Mutation - COSMIC |
Sample Name | Mutation ID | Mutation CDS | Mutation AA | Mutation Description | Mutation Genome Position | Mutation Strand |
TCGA-AX-A0J0-01 | COSM975744 | c.1657C>T | p.R553* | Substitution - Nonsense | 17:15596561-15596561 | - |
TCGA-A5-A0GB-01 | COSM975772 | c.1111T>C | p.L371L | Substitution - coding silent | 17:15612712-15612712 | - |
TCGA-CM-6165-01 | COSM1381064 | c.386_389delCCCA | p.T129fs*26 | Deletion - Frameshift | 17:15619124-15619127 | - |
TCGA-DA-A1I7-06 | COSM3514506 | c.694C>T | p.R232W | Substitution - Missense | 17:15614010-15614010 | - |
TCGA-BR-8487-01 | COSM3771273 | c.44G>A | p.R15H | Substitution - Missense | 17:15619469-15619469 | - |
PDA_024 | COSM3755274 | c.1927T>C | p.F643L | Substitution - Missense | 17:15593416-15593416 | - |
TCGA-AM-5821-01 | COSM3755274 | c.1927T>C | p.F643L | Substitution - Missense | 17:15593416-15593416 | - |
WSU-HN13 | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
UM-SCC-4 | COSM3980253 | c.638C>T | p.A213V | Substitution - Missense | 17:15589096-15589096 | - |
C086 | COSM5528512 | c.1389G>A | p.E463E | Substitution - coding silent | 17:15605267-15605267 | - |
UD-SCC-2 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-BR-4362-01 | COSM4064103 | c.1004C>A | p.S335Y | Substitution - Missense | 17:15612819-15612819 | - |
BICR_22 | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
sysucc-875T | COSM3818868 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
TCGA-AG-A002-01 | COSM260041 | c.2068G>T | p.E690* | Substitution - Nonsense | 17:15589166-15589166 | - |
TCGA-14-0813-01 | COSM2154701 | c.810G>A | p.G270G | Substitution - coding silent | 17:15613894-15613894 | - |
T96 | COSM4671266 | c.1074C>T | p.D358D | Substitution - coding silent | 17:15612749-15612749 | - |
NOKSI | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-AP-A056-01 | COSM975784 | c.402G>A | p.A134A | Substitution - coding silent | 17:15619111-15619111 | - |
TCGA-AP-A051-01 | COSM975762 | c.1414A>G | p.S472G | Substitution - Missense | 17:15605242-15605242 | - |
UD-SCC-2 | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
UM-SCC-11B | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
8066443 | COSM3771273 | c.44G>A | p.R15H | Substitution - Missense | 17:15619469-15619469 | - |
TCGA-G3-A7M9-01 | COSM4922677 | c.33C>T | p.A11A | Substitution - coding silent | 17:15619480-15619480 | - |
CN-AML-CR-26-Dx | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
HCC123T | COSM1609862 | c.1705-15_1705-8delTATCTTTT | p.? | Unknown | 17:15594898-15594905 | - |
sysucc-1925T | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
CAL27 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
B81-2-Tumor | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
SCC-9 | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
TCGA-BR-8680-01 | COSM4064109 | c.32C>T | p.A11V | Substitution - Missense | 17:15619481-15619481 | - |
ORL-48 | COSM3980251 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
SCC-15 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-AX-A05Z-01 | COSM975740 | c.1793C>T | p.A598V | Substitution - Missense | 17:15594802-15594802 | - |
WSU-HN6 | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
TCGA-BH-A0HF-01 | COSM3818867 | c.613C>T | p.L205F | Substitution - Missense | 17:15615702-15615702 | - |
CAL33 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
Pat_26_B | COSM4494813 | c.43C>T | p.R15C | Substitution - Missense | 17:15619470-15619470 | - |
PTC-14C | COSM4129591 | c.2139A>G | p.A713A | Substitution - coding silent | 17:15589095-15589095 | - |
sysucc-1465T | COSM3818869 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
TCGA-22-5471-01 | COSM704937 | c.1106G>A | p.W369* | Substitution - Nonsense | 17:15612717-15612717 | - |
B109-Tumor | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
PTC-73C | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
UPCI:SCC090 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-B5-A11N-01 | COSM975777 | c.903C>T | p.C301C | Substitution - coding silent | 17:15613711-15613711 | - |
TCGA-CM-6676-01 | COSM1381048 | c.1819C>T | p.R607C | Substitution - Missense | 17:15594776-15594776 | - |
TCGA-AP-A051-01 | COSM975761 | c.1414A>G | p.S472G | Substitution - Missense | 17:15605242-15605242 | - |
TCGA-AP-A0LI-01 | COSM975749 | c.1638C>T | p.Y546Y | Substitution - coding silent | 17:15596580-15596580 | - |
CN-AML-CR-16-Dx | COSM5427983 | c.228T>C | p.A76A | Substitution - coding silent | 17:15594867-15594867 | - |
UM-SCC-4 | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
SCC-9 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-D8-A27V-01 | COSM3514505 | c.711G>A | p.M237I | Substitution - Missense | 17:15613993-15613993 | - |
TCGA-AY-6197-01 | COSM1381059 | c.1003T>C | p.S335P | Substitution - Missense | 17:15612820-15612820 | - |
UM-SCC-11B | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
526LT | COSM975746 | c.157C>T | p.R53* | Substitution - Nonsense | 17:15596561-15596561 | - |
SNUH_G45_S1 | COSM3755273 | c.1927T>C | p.F643L | Substitution - Missense | 17:15593416-15593416 | - |
TCGA-D8-A27V-01 | COSM3514504 | c.711G>A | p.M237I | Substitution - Missense | 17:15613993-15613993 | - |
CSCC-4-T | COSM4551339 | c.526G>A | p.D176N | Substitution - Missense | 17:15615789-15615789 | - |
07-P8041 | COSM4579459 | c.366C>A | p.S122S | Substitution - coding silent | 17:15593477-15593477 | - |
TCGA-DU-7298-01 | COSM3969833 | c.1123-1G>T | p.? | Unknown | 17:15607684-15607684 | - |
UD-SCC-2 | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
CN-AML-CR-44-Dx | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
WSU-HN13 | COSM4601983 | c.1272T>A | p.D424E | Substitution - Missense | 17:15605384-15605384 | - |
sysucc-966T | COSM3818869 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
TCGA-14-0813-01 | COSM2154702 | c.810G>A | p.G270G | Substitution - coding silent | 17:15613894-15613894 | - |
TCGA-D5-6540-01 | COSM1381056 | c.1427G>C | p.S476T | Substitution - Missense | 17:15605229-15605229 | - |
I2L-P7-Tumor-Organoid | COSM5367918 | c.1268_1269insG | p.D424fs*8 | Insertion - Frameshift | 17:15605387-15605388 | - |
PTC-50C | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
UM-SCC-47 | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
TCGA-EW-A1PB-01 | COSM1479257 | c.244G>A | p.G82R | Substitution - Missense | 17:15619269-15619269 | - |
ML_67_T_01 | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
S32_pre | COSM5574485 | c.391G>A | p.A131T | Substitution - Missense | 17:15593452-15593452 | - |
TCGA-B0-5116-01 | COSM472333 | c.1086G>A | p.M362I | Substitution - Missense | 17:15612737-15612737 | - |
CLL094 | COSM260043 | c.2068G>T | p.E690* | Substitution - Nonsense | 17:15589166-15589166 | - |
Pat_28_B | COSM5851869 | c.670+1G>A | p.? | Unknown | 17:15615644-15615644 | - |
BHY | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
TCGA-D5-6540-01 | COSM1381057 | c.1427G>C | p.S476T | Substitution - Missense | 17:15605229-15605229 | - |
HCC159T | COSM3717189 | c.2006+4G>A | p.? | Unknown | 17:15593333-15593333 | - |
CHC301T | COSM3667950 | c.566C>G | p.S189C | Substitution - Missense | 17:15615749-15615749 | - |
sysucc-774T | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
ATL065 | COSM5706300 | c.1729G>C | p.V577L | Substitution - Missense | 17:15594866-15594866 | - |
TCGA-CA-6717-01 | COSM1381047 | c.534T>C | p.F178F | Substitution - coding silent | 17:15589200-15589200 | - |
TCGA-61-2610-02 | COSM1324151 | c.578C>T | p.A193V | Substitution - Missense | 17:15589156-15589156 | - |
TCGA-GN-A266-06 | COSM3514511 | c.539C>T | p.S180F | Substitution - Missense | 17:15615776-15615776 | - |
TCGA-20-1687-01 | COSM1324145 | c.704C>T | p.S235F | Substitution - Missense | 17:15614000-15614000 | - |
WSU-HN6 | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
PCSI_0083_Pa_P_526 | COSM3787273 | c.1433+7A>G | p.? | Unknown | 17:15605216-15605216 | - |
TCGA-61-2610-02 | COSM1324148 | c.2078C>T | p.A693V | Substitution - Missense | 17:15589156-15589156 | - |
TCGA-BS-A0UV-01 | COSM975766 | c.1295G>A | p.R432Q | Substitution - Missense | 17:15605361-15605361 | - |
Pat_28_B | COSM5851870 | c.70C>T | p.P24S | Substitution - Missense | 17:15619443-15619443 | - |
8066443 | COSM3771272 | c.44G>A | p.R15H | Substitution - Missense | 17:15619469-15619469 | - |
UD-SCC-2 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
CHEWS019 | COSM4579460 | c.152_158delTATCACA | p.I51fs*5 | Deletion - Frameshift | 17:15619355-15619361 | - |
sysucc-783T | COSM3818868 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
TCGA-AP-A059-01 | COSM975764 | c.1411G>A | p.G471R | Substitution - Missense | 17:15605245-15605245 | - |
BICR_22 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
B59-3-Tumor | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
TCGA-AP-A051-01 | COSM975781 | c.441A>T | p.K147N | Substitution - Missense | 17:15619072-15619072 | - |
CHC892T | COSM4796759 | c.1712G>A | p.S571N | Substitution - Missense | 17:15594883-15594883 | - |
TCGA-AG-A002-01 | COSM260043 | c.2068G>T | p.E690* | Substitution - Nonsense | 17:15589166-15589166 | - |
TCGA-D1-A167-01 | COSM975733 | c.413G>A | p.R138Q | Substitution - Missense | 17:15593430-15593430 | - |
WSU-HN13 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-EE-A3J5-06 | COSM3514496 | c.1180G>A | p.E394K | Substitution - Missense | 17:15607626-15607626 | - |
sysucc-826T | COSM4263502 | c.1000-10G>T | p.? | Unknown | 17:15612833-15612833 | - |
sysucc-1171T | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
WSU-HN13 | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
UPCI:SCC090 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-CA-6717-01 | COSM1381044 | c.2034T>C | p.F678F | Substitution - coding silent | 17:15589200-15589200 | - |
WSU-HN30 | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
WSU-HN8 | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
WSU-HN13 | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
526LT | COSM975745 | c.1657C>T | p.R553* | Substitution - Nonsense | 17:15596561-15596561 | - |
TCGA-BG-A0YV-01 | COSM975754 | c.89C>T | p.T30M | Substitution - Missense | 17:15596629-15596629 | - |
C086 | COSM975765 | c.1295G>A | p.R432Q | Substitution - Missense | 17:15605361-15605361 | - |
sysucc-1465T | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
PDA_074 | COSM4999241 | c.430A>C | p.N144H | Substitution - Missense | 17:15593413-15593413 | - |
PDA_024 | COSM3755273 | c.1927T>C | p.F643L | Substitution - Missense | 17:15593416-15593416 | - |
TCGA-AZ-4315-01 | COSM1381052 | c.1524C>T | p.L508L | Substitution - coding silent | 17:15598563-15598563 | - |
TCGA-AP-A059-01 | COSM975763 | c.1411G>A | p.G471R | Substitution - Missense | 17:15605245-15605245 | - |
PTC-14C | COSM4129593 | c.639A>G | p.A213A | Substitution - coding silent | 17:15589095-15589095 | - |
CSCC-16-T | COSM4522617 | c.1170G>A | p.Q390Q | Substitution - coding silent | 17:15607636-15607636 | - |
CN-AML-CR-10-Dx | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
1_RESISTANT | COSM1720766 | c.1152G>A | p.Q384Q | Substitution - coding silent | 17:15607654-15607654 | - |
TCGA-EE-A2MR-06 | COSM3514502 | c.777T>A | p.V259V | Substitution - coding silent | 17:15613927-15613927 | - |
UD-SCC-2 | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
GC8_T | COSM150865 | c.205-15_205-8delTATCTTTT | p.? | Unknown | 17:15594898-15594905 | - |
SC_9058 | COSM5560108 | c.1709T>A | p.L570H | Substitution - Missense | 17:15594886-15594886 | - |
PTC-50C | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
TCGA-F5-6814-01 | COSM3749391 | c.706G>A | p.E236K | Substitution - Missense | 17:15613998-15613998 | - |
S02256 | COSM5681244 | c.1454G>A | p.G485E | Substitution - Missense | 17:15598633-15598633 | - |
BHY | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
UM-SCC-17B | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
1287_T | COSM3958045 | c.1147T>C | p.Y383H | Substitution - Missense | 17:15607659-15607659 | - |
TCGA-F5-6814-01 | COSM3749392 | c.706G>A | p.E236K | Substitution - Missense | 17:15613998-15613998 | - |
PTC-7C | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
UM-SCC-4 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-D7-5577-01 | COSM4064105 | c.269C>T | p.S90F | Substitution - Missense | 17:15619244-15619244 | - |
TCGA-DU-7298-01 | COSM3969834 | c.1123-1G>T | p.? | Unknown | 17:15607684-15607684 | - |
6115242 | COSM5555872 | c.471C>T | p.G157G | Substitution - coding silent | 17:15593372-15593372 | - |
PTC-53C | COSM3818869 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
UM-SCC-47 | COSM2738586 | c.1438T>C | p.W480R | Substitution - Missense | 17:15598649-15598649 | - |
UM-SCC-11B | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
TCGA-AZ-4315-01 | COSM1381053 | c.1524C>T | p.L508L | Substitution - coding silent | 17:15598563-15598563 | - |
TCGA-AA-3672-01 | COSM266220 | c.1972G>A | p.D658N | Substitution - Missense | 17:15593371-15593371 | - |
CN-AML-CR-44-Dx | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
TCGA-AP-A051-01 | COSM975776 | c.904G>A | p.A302T | Substitution - Missense | 17:15613710-15613710 | - |
T55 | COSM4671270 | c.2T>C | p.M1T | Substitution - Missense | 17:15619511-15619511 | - |
CSCC-49-T | COSM4528958 | c.1575G>A | p.G525G | Substitution - coding silent | 17:15596643-15596643 | - |
TCGA-BR-4362-01 | COSM4064104 | c.1004C>A | p.S335Y | Substitution - Missense | 17:15612819-15612819 | - |
TCGA-AX-A05Z-01 | COSM975742 | c.293C>T | p.A98V | Substitution - Missense | 17:15594802-15594802 | - |
sysucc-826T | COSM4263503 | c.1000-10G>T | p.? | Unknown | 17:15612833-15612833 | - |
TCGA-AG-A002-01 | COSM260040 | c.568G>T | p.E190* | Substitution - Nonsense | 17:15589166-15589166 | - |
TCGA-A5-A0VP-01 | COSM975735 | c.1858G>A | p.D620N | Substitution - Missense | 17:15593485-15593485 | - |
TCGA-AX-A0J0-01 | COSM975745 | c.1657C>T | p.R553* | Substitution - Nonsense | 17:15596561-15596561 | - |
TCGA-36-2530-01 | COSM1324147 | c.1212T>C | p.N404N | Substitution - coding silent | 17:15607594-15607594 | - |
sysucc-1465T | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
TCGA-AP-A051-01 | COSM975727 | c.2156C>T | p.S719L | Substitution - Missense | 17:15589078-15589078 | - |
NOKSI | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
6115242 | COSM5555870 | c.1971C>T | p.G657G | Substitution - coding silent | 17:15593372-15593372 | - |
Detroit_562 | COSM3980250 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
CSCC-56-T | COSM4473809 | c.1875C>T | p.F625F | Substitution - coding silent | 17:15593468-15593468 | - |
TCGA-CA-6717-01 | COSM1381045 | c.2034T>C | p.F678F | Substitution - coding silent | 17:15589200-15589200 | - |
CN-AML-CR-26-Dx | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
PTC-46C | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-CM-6165-01 | COSM1381065 | c.386_389delCCCA | p.T129fs*26 | Deletion - Frameshift | 17:15619124-15619127 | - |
SNUH_G73_S1 | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
TCGA-36-2530-01 | COSM1324146 | c.1212T>C | p.N404N | Substitution - coding silent | 17:15607594-15607594 | - |
TCGA-14-0813 | COSM2154702 | c.810G>A | p.G270G | Substitution - coding silent | 17:15613894-15613894 | - |
CN-AML-CR-16-Dx | COSM5427982 | c.1728T>C | p.A576A | Substitution - coding silent | 17:15594867-15594867 | - |
TCGA-B5-A0K2-01 | COSM975770 | c.1118C>T | p.T373M | Substitution - Missense | 17:15612705-15612705 | - |
sysucc-1484T | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
CSCC-4-T | COSM4551340 | c.526G>A | p.D176N | Substitution - Missense | 17:15615789-15615789 | - |
TCGA-DA-A1I7-06 | COSM3514507 | c.694C>T | p.R232W | Substitution - Missense | 17:15614010-15614010 | - |
0031_CRUK_PC_0031_T1_DNA | COSM5422962 | c.1890C>T | p.S630S | Substitution - coding silent | 17:15593453-15593453 | - |
QC2-39-T2 | COSM5655814 | c.54A>C | p.K18N | Substitution - Missense | 17:15598533-15598533 | - |
TCGA-GN-A26C-01 | COSM3749391 | c.706G>A | p.E236K | Substitution - Missense | 17:15613998-15613998 | - |
TCGA-22-5471-01 | COSM704936 | c.1106G>A | p.W369* | Substitution - Nonsense | 17:15612717-15612717 | - |
NOKSI | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-BR-8680-01 | COSM4064110 | c.32C>T | p.A11V | Substitution - Missense | 17:15619481-15619481 | - |
TCGA-A8-A06X-01 | COSM436070 | c.1296A>T | p.R432R | Substitution - coding silent | 17:15605360-15605360 | - |
CSCC-49-T | COSM4528957 | c.1575G>A | p.G525G | Substitution - coding silent | 17:15596643-15596643 | - |
Sample_1 | COSM4129598 | c.1132A>G | p.N378D | Substitution - Missense | 17:15607674-15607674 | - |
T3202 | COSM4671268 | c.705C>T | p.S235S | Substitution - coding silent | 17:15613999-15613999 | - |
WSU-HN30 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
C086 | COSM975766 | c.1295G>A | p.R432Q | Substitution - Missense | 17:15605361-15605361 | - |
PD11398a | COSM5779784 | c.1555+9G>C | p.? | Unknown | 17:15598523-15598523 | - |
1_PRE-TREATMENT | COSM1720766 | c.1152G>A | p.Q384Q | Substitution - coding silent | 17:15607654-15607654 | - |
TCGA-DK-A3IN-01 | COSM3795285 | c.17C>G | p.S6* | Substitution - Nonsense | 17:15619496-15619496 | - |
TCGA-D1-A167-01 | COSM975731 | c.1913G>A | p.R638Q | Substitution - Missense | 17:15593430-15593430 | - |
HCC159 | COSM3717191 | c.506+4G>A | p.? | Unknown | 17:15593333-15593333 | - |
TCGA-D1-A167-01 | COSM975732 | c.1913G>A | p.R638Q | Substitution - Missense | 17:15593430-15593430 | - |
CSCC-35-T | COSM4494812 | c.43C>T | p.R15C | Substitution - Missense | 17:15619470-15619470 | - |
TCGA-AA-3492-01 | COSM1290636 | c.538delT | p.S180fs*58 | Deletion - Frameshift | 17:15615777-15615777 | - |
PTC-73C | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
ORL-48 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
DN1307F | COSM5962415 | c.2049C>T | p.N683N | Substitution - coding silent | 17:15589185-15589185 | - |
sysucc-875T | COSM3818869 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
UPCI:SCC090 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-AP-A051-01 | COSM975729 | c.656C>T | p.S219L | Substitution - Missense | 17:15589078-15589078 | - |
TCGA-D3-A3MV-06 | COSM3514508 | c.616C>T | p.P206S | Substitution - Missense | 17:15615699-15615699 | - |
QC2-39-T2 | COSM5655812 | c.1554A>C | p.K518N | Substitution - Missense | 17:15598533-15598533 | - |
SC_9058 | COSM5560109 | c.209T>A | p.L70H | Substitution - Missense | 17:15594886-15594886 | - |
UM-SCC-47 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
pfg122T | COSM1290636 | c.538delT | p.S180fs*58 | Deletion - Frameshift | 17:15615777-15615777 | - |
TCGA-A5-A0VP-01 | COSM975737 | c.358G>A | p.D120N | Substitution - Missense | 17:15593485-15593485 | - |
TCGA-A5-A0GB-01 | COSM975771 | c.1111T>C | p.L371L | Substitution - coding silent | 17:15612712-15612712 | - |
1_RESISTANT | COSM1720765 | c.1152G>A | p.Q384Q | Substitution - coding silent | 17:15607654-15607654 | - |
S0080 | COSM5882813 | c.279C>A | p.D93E | Substitution - Missense | 17:15619234-15619234 | - |
PTC-7C | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
Detroit_562 | COSM3980253 | c.638C>T | p.A213V | Substitution - Missense | 17:15589096-15589096 | - |
sysucc-1925T | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
TCGA-13-0924-01 | COSM4947298 | c.1482C>G | p.H494Q | Substitution - Missense | 17:15598605-15598605 | - |
TCGA-B5-A11N-01 | COSM975778 | c.903C>T | p.C301C | Substitution - coding silent | 17:15613711-15613711 | - |
TCGA-B5-A0JY-01 | COSM975773 | c.1067T>C | p.V356A | Substitution - Missense | 17:15612756-15612756 | - |
CLL107 | COSM1290637 | c.538delT | p.S180fs*58 | Deletion - Frameshift | 17:15615777-15615777 | - |
LUAD-S01315 | COSM344483 | c.1130_1131AC>TT | p.Y377>? | Complex | 17:15607675-15607676 | - |
TCGA-FW-A5DY-06 | COSM3514505 | c.711G>A | p.M237I | Substitution - Missense | 17:15613993-15613993 | - |
CHC892T | COSM4796759 | c.1712G>A | p.S571N | Substitution - Missense | 17:15594883-15594883 | - |
WSU-HN30 | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
UM-SCC-11B | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-A5-A0GA-01 | COSM975772 | c.1111T>C | p.L371L | Substitution - coding silent | 17:15612712-15612712 | - |
WSU-HN30 | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
SCC-15 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
PTC-73C | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
PDA_074 | COSM4999240 | c.1930A>C | p.N644H | Substitution - Missense | 17:15593413-15593413 | - |
WSU-HN8 | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
1287_T | COSM3958046 | c.1147T>C | p.Y383H | Substitution - Missense | 17:15607659-15607659 | - |
SS6003117 | COSM3980251 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
UM-SCC-11B | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
SS6003117 | COSM3980253 | c.638C>T | p.A213V | Substitution - Missense | 17:15589096-15589096 | - |
TCGA-AA-3492-01 | COSM1290637 | c.538delT | p.S180fs*58 | Deletion - Frameshift | 17:15615777-15615777 | - |
HCC159 | COSM3717189 | c.2006+4G>A | p.? | Unknown | 17:15593333-15593333 | - |
07-P8041 | COSM4579457 | c.1866C>A | p.S622S | Substitution - coding silent | 17:15593477-15593477 | - |
Au3 | COSM4473811 | c.375C>T | p.F125F | Substitution - coding silent | 17:15593468-15593468 | - |
PDA_005 | COSM3818869 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
SS6003117 | COSM3980250 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
PTC-73C | COSM4129598 | c.1132A>G | p.N378D | Substitution - Missense | 17:15607674-15607674 | - |
UM-SCC-17B | COSM3980251 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
WSU-HN30 | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
PD11398a | COSM5779786 | c.55+9G>C | p.? | Unknown | 17:15598523-15598523 | - |
TCGA-AA-A00O-01 | COSM298938 | c.281G>A | p.G94D | Substitution - Missense | 17:15594814-15594814 | - |
UM-SCC-17B | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
UM-SCC-4 | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
TCGA-AA-3672-01 | COSM266219 | c.472G>A | p.D158N | Substitution - Missense | 17:15593371-15593371 | - |
TCGA-AP-A056-01 | COSM975757 | c.1466G>A | p.R489Q | Substitution - Missense | 17:15598621-15598621 | - |
Detroit_562 | COSM4129590 | c.2139A>G | p.A713A | Substitution - coding silent | 17:15589095-15589095 | - |
TCGA-AP-A0LI-01 | COSM975750 | c.138C>T | p.Y46Y | Substitution - coding silent | 17:15596580-15596580 | - |
SNUH_G45_S1 | COSM3755276 | c.427T>C | p.F143L | Substitution - Missense | 17:15593416-15593416 | - |
WSU-HN12 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-AX-A05Z-01 | COSM975741 | c.1793C>T | p.A598V | Substitution - Missense | 17:15594802-15594802 | - |
PDA_027 | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
TCGA-G3-A7M9-01 | COSM4922678 | c.33C>T | p.A11A | Substitution - coding silent | 17:15619480-15619480 | - |
ORL-48 | COSM3980250 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
HCC159T | COSM3717190 | c.2006+4G>A | p.? | Unknown | 17:15593333-15593333 | - |
TCGA-AA-3672-01 | COSM266222 | c.1972G>A | p.D658N | Substitution - Missense | 17:15593371-15593371 | - |
TCGA-IR-A3LK-01 | COSM4817386 | c.601C>G | p.Q201E | Substitution - Missense | 17:15615714-15615714 | - |
WSU-HN8 | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
P06-3939 | COSM247978 | c.592G>A | p.A198T | Substitution - Missense | 17:15615723-15615723 | - |
sysucc-1512T | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
HCC159T | COSM3717191 | c.506+4G>A | p.? | Unknown | 17:15593333-15593333 | - |
SCC-15 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
PDA_024 | COSM4999241 | c.430A>C | p.N144H | Substitution - Missense | 17:15593413-15593413 | - |
Detroit_562 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
PT24_2 | COSM5943096 | c.1000-4_1000-3insT | p.? | Unknown | 17:15612826-15612827 | - |
WSU-HN12 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-AP-A056-01 | COSM975783 | c.402G>A | p.A134A | Substitution - coding silent | 17:15619111-15619111 | - |
UM-SCC-4 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
UM-SCC-47 | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
NOKSI | COSM3980253 | c.638C>T | p.A213V | Substitution - Missense | 17:15589096-15589096 | - |
TCGA-AY-6197-01 | COSM1381058 | c.1003T>C | p.S335P | Substitution - Missense | 17:15612820-15612820 | - |
CN-AML-CR-16-Dx | COSM5427981 | c.1728T>C | p.A576A | Substitution - coding silent | 17:15594867-15594867 | - |
sysucc-1421T | COSM3818869 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
PTC-1C | COSM3818869 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
TCGA-D8-A27H-01 | COSM1479256 | c.1082G>C | p.S361T | Substitution - Missense | 17:15612741-15612741 | - |
PTC-53C | COSM3818868 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
PT24_2 | COSM5943097 | c.1000-4_1000-3insT | p.? | Unknown | 17:15612826-15612827 | - |
TCGA-BS-A0UV-01 | COSM975765 | c.1295G>A | p.R432Q | Substitution - Missense | 17:15605361-15605361 | - |
S0080 | COSM5882812 | c.279C>A | p.D93E | Substitution - Missense | 17:15619234-15619234 | - |
sysucc-880T | COSM2738610 | c.1087C>T | p.R363C | Substitution - Missense | 17:15612736-15612736 | - |
TCGA-CJ-5678-01 | COSM472330 | c.231G>A | p.V77V | Substitution - coding silent | 17:15594864-15594864 | - |
DN1307F | COSM5962414 | c.2049C>T | p.N683N | Substitution - coding silent | 17:15589185-15589185 | - |
SCC-25 | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
TCGA-FW-A5DY-06 | COSM3514504 | c.711G>A | p.M237I | Substitution - Missense | 17:15613993-15613993 | - |
TCGA-FS-A4FC-06 | COSM3514498 | c.1027A>G | p.N343D | Substitution - Missense | 17:15612796-15612796 | - |
sysucc-1925T | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
sysucc-1484T | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-AQ-A0Y5-01 | COSM3818868 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
TCGA-A6-5661-01 | COSM1381063 | c.574T>C | p.S192P | Substitution - Missense | 17:15615741-15615741 | - |
93VU147T | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-AP-A0LI-01 | COSM975748 | c.1638C>T | p.Y546Y | Substitution - coding silent | 17:15596580-15596580 | - |
CLL094 | COSM260041 | c.2068G>T | p.E690* | Substitution - Nonsense | 17:15589166-15589166 | - |
sysucc-1484T | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
TCGA-D8-A27H-01 | COSM1479255 | c.1082G>C | p.S361T | Substitution - Missense | 17:15612741-15612741 | - |
pfg122T | COSM4750316 | c.631C>A | p.P211T | Substitution - Missense | 17:15615684-15615684 | - |
PT42 | COSM5943875 | c.872-5delT | p.? | Unknown | 17:15613747-15613747 | - |
ESCC_BICR_052T | COSM5434664 | c.1080G>C | p.K360N | Substitution - Missense | 17:15612743-15612743 | - |
Pat_28_B | COSM5851871 | c.70C>T | p.P24S | Substitution - Missense | 17:15619443-15619443 | - |
BICR_22 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
93VU147T | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
ESCC_BICR_052T | COSM5434663 | c.1080G>C | p.K360N | Substitution - Missense | 17:15612743-15612743 | - |
NOKSI | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
UM-SCC-4 | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
sysucc-1925T | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
T96 | COSM4671267 | c.1074C>T | p.D358D | Substitution - coding silent | 17:15612749-15612749 | - |
sysucc-966T | COSM3818868 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
UM-SCC-47 | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
SNUH_G73_S1 | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
PCSI_0083_Pa_P_526 | COSM3787272 | c.1433+7A>G | p.? | Unknown | 17:15605216-15605216 | - |
UM-SCC-47 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
Au3 | COSM4473809 | c.1875C>T | p.F625F | Substitution - coding silent | 17:15593468-15593468 | - |
Detroit_562 | COSM4129593 | c.639A>G | p.A213A | Substitution - coding silent | 17:15589095-15589095 | - |
sysucc-1512T | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
WSU-HN13 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
S02256 | COSM5681243 | c.1454G>A | p.G485E | Substitution - Missense | 17:15598633-15598633 | - |
CSCC-11-T | COSM4445626 | c.872-7T>A | p.? | Unknown | 17:15613749-15613749 | - |
Pat_26_B | COSM4494812 | c.43C>T | p.R15C | Substitution - Missense | 17:15619470-15619470 | - |
HCC159 | COSM3717190 | c.2006+4G>A | p.? | Unknown | 17:15593333-15593333 | - |
SCC-25 | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
TCGA-AA-A022-01 | COSM5124525 | c.1083C>T | p.S361S | Substitution - coding silent | 17:15612740-15612740 | - |
DN1307F | COSM5962417 | c.549C>T | p.N183N | Substitution - coding silent | 17:15589185-15589185 | - |
0031_CRUK_PC_0031_T1_DNA | COSM5422963 | c.390C>T | p.S130S | Substitution - coding silent | 17:15593453-15593453 | - |
CSCC-56-T | COSM4473808 | c.1875C>T | p.F625F | Substitution - coding silent | 17:15593468-15593468 | - |
B81-2-Tumor | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
TCGA-AP-A0LT-01 | COSM975772 | c.1111T>C | p.L371L | Substitution - coding silent | 17:15612712-15612712 | - |
sysucc-1484T | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
ATL065 | COSM5706299 | c.1729G>C | p.V577L | Substitution - Missense | 17:15594866-15594866 | - |
Pat_28_B | COSM5851868 | c.670+1G>A | p.? | Unknown | 17:15615644-15615644 | - |
ORL-48 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
CLL094 | COSM260040 | c.568G>T | p.E190* | Substitution - Nonsense | 17:15589166-15589166 | - |
HCC123T | COSM1609861 | c.1705-15_1705-8delTATCTTTT | p.? | Unknown | 17:15594898-15594905 | - |
SC_9058 | COSM5560107 | c.1709T>A | p.L570H | Substitution - Missense | 17:15594886-15594886 | - |
TCGA-13-0924-01 | COSM86209 | c.1482C>G | p.H494Q | Substitution - Missense | 17:15598605-15598605 | - |
TCGA-AP-A051-01 | COSM975782 | c.441A>T | p.K147N | Substitution - Missense | 17:15619072-15619072 | - |
TCGA-B0-5116-01 | COSM472332 | c.1086G>A | p.M362I | Substitution - Missense | 17:15612737-15612737 | - |
T55 | COSM4671271 | c.2T>C | p.M1T | Substitution - Missense | 17:15619511-15619511 | - |
PD18031a | COSM5793799 | c.824G>T | p.R275L | Substitution - Missense | 17:15613880-15613880 | - |
CN-AML-CR-10-Dx | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
UM-SCC-11B | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
T3202 | COSM4671269 | c.705C>T | p.S235S | Substitution - coding silent | 17:15613999-15613999 | - |
PTC-7C | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-CM-6676-01 | COSM1381051 | c.319C>T | p.R107C | Substitution - Missense | 17:15594776-15594776 | - |
TCGA-BG-A0YV-01 | COSM975752 | c.1589C>T | p.T530M | Substitution - Missense | 17:15596629-15596629 | - |
CHC892T | COSM4796758 | c.1712G>A | p.S571N | Substitution - Missense | 17:15594883-15594883 | - |
TCGA-AQ-A0Y5-01 | COSM3818869 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
TCGA-BR-8591-01 | COSM4064108 | c.61G>A | p.D21N | Substitution - Missense | 17:15619452-15619452 | - |
TCGA-GN-A269-01 | COSM3514499 | c.1021G>A | p.D341N | Substitution - Missense | 17:15612802-15612802 | - |
TCGA-IR-A3LK-01 | COSM4817385 | c.601C>G | p.Q201E | Substitution - Missense | 17:15615714-15615714 | - |
TCGA-FS-A4FC-06 | COSM3514497 | c.1027A>G | p.N343D | Substitution - Missense | 17:15612796-15612796 | - |
SCC-25 | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
CAL33 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
LUAD-S01345 | COSM396961 | c.728G>A | p.G243E | Substitution - Missense | 17:15613976-15613976 | - |
CHC892T | COSM4796761 | c.212G>A | p.S71N | Substitution - Missense | 17:15594883-15594883 | - |
ESCC_BICR_071T | COSM5433484 | c.399G>A | p.K133K | Substitution - coding silent | 17:15619114-15619114 | - |
PDA_024 | COSM4999239 | c.1930A>C | p.N644H | Substitution - Missense | 17:15593413-15593413 | - |
TCGA-B5-A0JY-01 | COSM975768 | c.1164G>A | p.T388T | Substitution - coding silent | 17:15607642-15607642 | - |
EGC3 | COSM5055233 | c.28A>G | p.N10D | Substitution - Missense | 17:15619485-15619485 | - |
TCGA-AA-3977-01 | COSM5118365 | c.1131C>T | p.Y377Y | Substitution - coding silent | 17:15607675-15607675 | - |
UD-SCC-2 | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
CSCC-20-T | COSM4452964 | c.235A>T | p.T79S | Substitution - Missense | 17:15619278-15619278 | - |
TCGA-AZ-4315-01 | COSM1381055 | c.24C>T | p.L8L | Substitution - coding silent | 17:15598563-15598563 | - |
PTC-73C | COSM4129599 | c.1132A>G | p.N378D | Substitution - Missense | 17:15607674-15607674 | - |
pfg122T | COSM4750315 | c.631C>A | p.P211T | Substitution - Missense | 17:15615684-15615684 | - |
CSCC-49-T | COSM4528960 | c.75G>A | p.G25G | Substitution - coding silent | 17:15596643-15596643 | - |
TCGA-AP-A051-01 | COSM975775 | c.904G>A | p.A302T | Substitution - Missense | 17:15613710-15613710 | - |
PTC-73C | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-CK-6746-01 | COSM298939 | c.1781G>A | p.G594D | Substitution - Missense | 17:15594814-15594814 | - |
TCGA-B5-A0JR-01 | COSM975772 | c.1111T>C | p.L371L | Substitution - coding silent | 17:15612712-15612712 | - |
0031_CRUK_PC_0031_T1_DNA | COSM5422961 | c.1890C>T | p.S630S | Substitution - coding silent | 17:15593453-15593453 | - |
TCGA-AP-A0LM-01 | COSM975779 | c.642A>G | p.E214E | Substitution - coding silent | 17:15615673-15615673 | - |
sysucc-1171T | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
SNUH_G16_S1 | COSM4000021 | c.781C>A | p.L261M | Substitution - Missense | 17:15613923-15613923 | - |
SCC-9 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-AP-A0LM-01 | COSM975780 | c.642A>G | p.E214E | Substitution - coding silent | 17:15615673-15615673 | - |
WSU-HN30 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
BHY | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
EGC3 | COSM5055234 | c.28A>G | p.N10D | Substitution - Missense | 17:15619485-15619485 | - |
UD-SCC-2 | COSM3980250 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
93VU147T | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-A6-5661-01 | COSM5088880 | c.2022C>T | p.H674H | Substitution - coding silent | 17:15589212-15589212 | - |
CSCC-56-T | COSM4473811 | c.375C>T | p.F125F | Substitution - coding silent | 17:15593468-15593468 | - |
Pat_26_A | COSM4494812 | c.43C>T | p.R15C | Substitution - Missense | 17:15619470-15619470 | - |
CHC892T | COSM4796761 | c.212G>A | p.S71N | Substitution - Missense | 17:15594883-15594883 | - |
ML_67_T_01 | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
ATL065 | COSM5706302 | c.229G>C | p.V77L | Substitution - Missense | 17:15594866-15594866 | - |
TCGA-B5-A0K2-01 | COSM975769 | c.1118C>T | p.T373M | Substitution - Missense | 17:15612705-15612705 | - |
TCGA-AM-5821-01 | COSM3755276 | c.427T>C | p.F143L | Substitution - Missense | 17:15593416-15593416 | - |
PTC-77C | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
UD-SCC-2 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
SCC-25 | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
UD-SCC-2 | COSM3980253 | c.638C>T | p.A213V | Substitution - Missense | 17:15589096-15589096 | - |
SCC-9 | COSM3980253 | c.638C>T | p.A213V | Substitution - Missense | 17:15589096-15589096 | - |
PTC-1C | COSM3818868 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
CAL27 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
CLL107 | COSM1290636 | c.538delT | p.S180fs*58 | Deletion - Frameshift | 17:15615777-15615777 | - |
sysucc-1421T | COSM3818868 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
TCGA-CJ-5678-01 | COSM472328 | c.1731G>A | p.V577V | Substitution - coding silent | 17:15594864-15594864 | - |
TCGA-A5-A0GA-01 | COSM975771 | c.1111T>C | p.L371L | Substitution - coding silent | 17:15612712-15612712 | - |
SNUH_G16_S1 | COSM4000022 | c.781C>A | p.L261M | Substitution - Missense | 17:15613923-15613923 | - |
Detroit_562 | COSM3980251 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
BICR_22 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
PT42 | COSM5943876 | c.872-5delT | p.? | Unknown | 17:15613747-15613747 | - |
UM-SCC-2 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
sysucc-1484T | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
NOKSI | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
ESCC_BICR_061T | COSM5430766 | c.160G>A | p.G54R | Substitution - Missense | 17:15596558-15596558 | - |
B109-Tumor | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
SNUH_G45_S1 | COSM3755274 | c.1927T>C | p.F643L | Substitution - Missense | 17:15593416-15593416 | - |
TCGA-AP-A051-01 | COSM975728 | c.2156C>T | p.S719L | Substitution - Missense | 17:15589078-15589078 | - |
sysucc-880T | COSM2738609 | c.1087C>T | p.R363C | Substitution - Missense | 17:15612736-15612736 | - |
D28 | COSM5544673 | c.951G>A | p.M317I | Substitution - Missense | 17:15613663-15613663 | - |
sysucc-1465T | COSM3818868 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
TCGA-20-1687-01 | COSM1324144 | c.704C>T | p.S235F | Substitution - Missense | 17:15614000-15614000 | - |
T2269 | COSM4671262 | c.1859A>T | p.D620V | Substitution - Missense | 17:15593484-15593484 | - |
Detroit_562 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
CSCC-35-T | COSM4494813 | c.43C>T | p.R15C | Substitution - Missense | 17:15619470-15619470 | - |
UM-SCC-4 | COSM3980250 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
UM-SCC-47 | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
07-P8041 | COSM4579456 | c.1866C>A | p.S622S | Substitution - coding silent | 17:15593477-15593477 | - |
UM-SCC-4 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
CSCC-11-T | COSM4445625 | c.872-7T>A | p.? | Unknown | 17:15613749-15613749 | - |
sysucc-1171T | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
CHC301T | COSM3667950 | c.566C>G | p.S189C | Substitution - Missense | 17:15615749-15615749 | - |
TCGA-GN-A26C-01 | COSM3749392 | c.706G>A | p.E236K | Substitution - Missense | 17:15613998-15613998 | - |
WSU-HN30 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
PDA_024 | COSM4999240 | c.1930A>C | p.N644H | Substitution - Missense | 17:15593413-15593413 | - |
NOKSI | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
BICR_22 | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
TCGA-BR-8591-01 | COSM4064107 | c.61G>A | p.D21N | Substitution - Missense | 17:15619452-15619452 | - |
TCGA-AP-A056-01 | COSM975756 | c.1466G>A | p.R489Q | Substitution - Missense | 17:15598621-15598621 | - |
TCGA-AA-3977-01 | COSM5118362 | c.2068G>A | p.E690K | Substitution - Missense | 17:15589166-15589166 | - |
LUAD-F00368 | COSM341085 | c.1860C>A | p.D620E | Substitution - Missense | 17:15593483-15593483 | - |
TCGA-GN-A269-01 | COSM3514500 | c.1021G>A | p.D341N | Substitution - Missense | 17:15612802-15612802 | - |
CHEWS019 | COSM4579461 | c.152_158delTATCACA | p.I51fs*5 | Deletion - Frameshift | 17:15619355-15619361 | - |
ORL-48 | COSM3980253 | c.638C>T | p.A213V | Substitution - Missense | 17:15589096-15589096 | - |
TCGA-BG-A0YV-01 | COSM975753 | c.1589C>T | p.T530M | Substitution - Missense | 17:15596629-15596629 | - |
ESCC_BICR_061T | COSM5430765 | c.1660G>A | p.G554R | Substitution - Missense | 17:15596558-15596558 | - |
TCGA-BH-A0HF-01 | COSM3818866 | c.613C>T | p.L205F | Substitution - Missense | 17:15615702-15615702 | - |
TCGA-AX-A0J0-01 | COSM975746 | c.157C>T | p.R53* | Substitution - Nonsense | 17:15596561-15596561 | - |
WSU-HN6 | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
LUAD-F00368 | COSM341086 | c.360C>A | p.D120E | Substitution - Missense | 17:15593483-15593483 | - |
SCC-9 | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
UM-SCC-2 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-AA-A00O-01 | COSM298941 | c.1781G>A | p.G594D | Substitution - Missense | 17:15594814-15594814 | - |
TCGA-A5-A0VP-01 | COSM975736 | c.1858G>A | p.D620N | Substitution - Missense | 17:15593485-15593485 | - |
TCGA-A8-A06X-01 | COSM436071 | c.1296A>T | p.R432R | Substitution - coding silent | 17:15605360-15605360 | - |
I2L-P7-Tumor-Organoid | COSM5367917 | c.1268_1269insG | p.D424fs*8 | Insertion - Frameshift | 17:15605387-15605388 | - |
HN_62426 | COSM126995 | c.266C>G | p.S89* | Substitution - Nonsense | 17:15594829-15594829 | - |
TCGA-14-0813 | COSM2154701 | c.810G>A | p.G270G | Substitution - coding silent | 17:15613894-15613894 | - |
T2269 | COSM4671263 | c.1859A>T | p.D620V | Substitution - Missense | 17:15593484-15593484 | - |
TCGA-CM-6676-01 | COSM1381049 | c.1819C>T | p.R607C | Substitution - Missense | 17:15594776-15594776 | - |
UM-SCC-4 | COSM3980251 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
PTC-46C | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
CSCC-20-T | COSM4452965 | c.235A>T | p.T79S | Substitution - Missense | 17:15619278-15619278 | - |
pfg122T | COSM1290637 | c.538delT | p.S180fs*58 | Deletion - Frameshift | 17:15615777-15615777 | - |
BHY | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
CHC892T | COSM4796758 | c.1712G>A | p.S571N | Substitution - Missense | 17:15594883-15594883 | - |
TCGA-CJ-5678-01 | COSM472329 | c.1731G>A | p.V577V | Substitution - coding silent | 17:15594864-15594864 | - |
D28 | COSM5544672 | c.951G>A | p.M317I | Substitution - Missense | 17:15613663-15613663 | - |
TCGA-61-2610-02 | COSM1324149 | c.2078C>T | p.A693V | Substitution - Missense | 17:15589156-15589156 | - |
T2269 | COSM4671264 | c.359A>T | p.D120V | Substitution - Missense | 17:15593484-15593484 | - |
Sample_1 | COSM3755277 | c.1232C>T | p.T411M | Substitution - Missense | 17:15607574-15607574 | - |
216 | COSM4424651 | c.1100C>T | p.P367L | Substitution - Missense | 17:15612723-15612723 | - |
UM-SCC-11B | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
UM-SCC-17B | COSM3980250 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
TCGA-B5-A0JR-01 | COSM975771 | c.1111T>C | p.L371L | Substitution - coding silent | 17:15612712-15612712 | - |
sysucc-1315T | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
sysucc-783T | COSM3818869 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
LUAD-S01315 | COSM344484 | c.1130_1131AC>TT | p.Y377>? | Complex | 17:15607675-15607676 | - |
WSU-HN13 | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
PTC-77C | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
PDA_027 | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
sysucc-1484T | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
WSU-HN12 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-D3-A3MV-06 | COSM3514509 | c.616C>T | p.P206S | Substitution - Missense | 17:15615699-15615699 | - |
CSCC-16-T | COSM4522616 | c.1170G>A | p.Q390Q | Substitution - coding silent | 17:15607636-15607636 | - |
UD-SCC-2 | COSM3980251 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
TCGA-CM-4744-01 | COSM5156594 | c.2126G>T | p.R709I | Substitution - Missense | 17:15589108-15589108 | - |
CRC-24T | COSM5482697 | c.652G>A | p.G218R | Substitution - Missense | 17:15615663-15615663 | - |
TCGA-B5-A0JY-01 | COSM975774 | c.1067T>C | p.V356A | Substitution - Missense | 17:15612756-15612756 | - |
UM-SCC-47 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
NOKSI | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
Pat_26_A | COSM4494813 | c.43C>T | p.R15C | Substitution - Missense | 17:15619470-15619470 | - |
Detroit_562 | COSM4129591 | c.2139A>G | p.A713A | Substitution - coding silent | 17:15589095-15589095 | - |
NOKSI | COSM3980250 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
TCGA-AM-5821-01 | COSM3755277 | c.1232C>T | p.T411M | Substitution - Missense | 17:15607574-15607574 | - |
TCGA-FV-A2QQ-01 | COSM4910806 | c.1232+2T>A | p.? | Unknown | 17:15607572-15607572 | - |
TCGA-D7-5577-01 | COSM4064106 | c.269C>T | p.S90F | Substitution - Missense | 17:15619244-15619244 | - |
UM-SCC-4 | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
ESCC_BICR_061T | COSM5430764 | c.1660G>A | p.G554R | Substitution - Missense | 17:15596558-15596558 | - |
TCGA-EE-A2MR-06 | COSM3514501 | c.777T>A | p.V259V | Substitution - coding silent | 17:15613927-15613927 | - |
SCC-9 | COSM3980251 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
QC2-39-T2 | COSM5655811 | c.1554A>C | p.K518N | Substitution - Missense | 17:15598533-15598533 | - |
WSU-HN6 | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
LUAD-F00368 | COSM341084 | c.1860C>A | p.D620E | Substitution - Missense | 17:15593483-15593483 | - |
BHY | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
Sample_1 | COSM3755278 | c.1232C>T | p.T411M | Substitution - Missense | 17:15607574-15607574 | - |
216 | COSM4424650 | c.1100C>T | p.P367L | Substitution - Missense | 17:15612723-15612723 | - |
CAL33 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
PD18031a | COSM5793798 | c.824G>T | p.R275L | Substitution - Missense | 17:15613880-15613880 | - |
Sample_1 | COSM4129599 | c.1132A>G | p.N378D | Substitution - Missense | 17:15607674-15607674 | - |
PTC-46C | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
CHC301T | COSM3667951 | c.566C>G | p.S189C | Substitution - Missense | 17:15615749-15615749 | - |
TCGA-AM-5821-01 | COSM3755278 | c.1232C>T | p.T411M | Substitution - Missense | 17:15607574-15607574 | - |
PDA_005 | COSM3818868 | c.68T>A | p.I23N | Substitution - Missense | 17:15619445-15619445 | - |
PD11398a | COSM5779783 | c.1555+9G>C | p.? | Unknown | 17:15598523-15598523 | - |
SCC-9 | COSM3980250 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
TCGA-B5-A0JY-01 | COSM975767 | c.1164G>A | p.T388T | Substitution - coding silent | 17:15607642-15607642 | - |
Detroit_562 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
ORL-48 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
WSU-HN13 | COSM4601984 | c.1272T>A | p.D424E | Substitution - Missense | 17:15605384-15605384 | - |
WSU-HN13 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
HN_62426 | COSM126993 | c.1766C>G | p.S589* | Substitution - Nonsense | 17:15594829-15594829 | - |
HCC123T | COSM150865 | c.205-15_205-8delTATCTTTT | p.? | Unknown | 17:15594898-15594905 | - |
B59-3-Tumor | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
TCGA-EE-A3J5-06 | COSM3514495 | c.1180G>A | p.E394K | Substitution - Missense | 17:15607626-15607626 | - |
Au3 | COSM4473808 | c.1875C>T | p.F625F | Substitution - coding silent | 17:15593468-15593468 | - |
UM-SCC-2 | COSM4129594 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
PDA_074 | COSM4999239 | c.1930A>C | p.N644H | Substitution - Missense | 17:15593413-15593413 | - |
CRC-24T | COSM5482698 | c.652G>A | p.G218R | Substitution - Missense | 17:15615663-15615663 | - |
6115242 | COSM5555871 | c.1971C>T | p.G657G | Substitution - coding silent | 17:15593372-15593372 | - |
UM-SCC-47 | COSM2738585 | c.1438T>C | p.W480R | Substitution - Missense | 17:15598649-15598649 | - |
UM-SCC-17B | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
C086 | COSM5528511 | c.1389G>A | p.E463E | Substitution - coding silent | 17:15605267-15605267 | - |
P06-3939 | COSM247979 | c.592G>A | p.A198T | Substitution - Missense | 17:15615723-15615723 | - |
TCGA-BR-8487-01 | COSM3771272 | c.44G>A | p.R15H | Substitution - Missense | 17:15619469-15619469 | - |
PTC-73C | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-AM-5821-01 | COSM3755273 | c.1927T>C | p.F643L | Substitution - Missense | 17:15593416-15593416 | - |
WSU-HN8 | COSM3932485 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
PDA_024 | COSM3755276 | c.427T>C | p.F143L | Substitution - Missense | 17:15593416-15593416 | - |
sysucc-1171T | COSM4129600 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
S32_pre | COSM5574484 | c.1891G>A | p.A631T | Substitution - Missense | 17:15593452-15593452 | - |
UM-SCC-17B | COSM3980253 | c.638C>T | p.A213V | Substitution - Missense | 17:15589096-15589096 | - |
SCC-9 | COSM4129597 | c.622G>A | p.V208M | Substitution - Missense | 17:15589112-15589112 | - |
TCGA-GN-A266-06 | COSM3514510 | c.539C>T | p.S180F | Substitution - Missense | 17:15615776-15615776 | - |
TCGA-EW-A1PB-01 | COSM1479258 | c.244G>A | p.G82R | Substitution - Missense | 17:15619269-15619269 | - |
sysucc-1484T | COSM4129601 | c.781C>G | p.L261V | Substitution - Missense | 17:15613923-15613923 | - |
sysucc-774T | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
TCGA-AP-A0LT-01 | COSM975771 | c.1111T>C | p.L371L | Substitution - coding silent | 17:15612712-15612712 | - |
CAL27 | COSM4129595 | c.2122G>A | p.V708M | Substitution - Missense | 17:15589112-15589112 | - |
sysucc-1315T | COSM3932486 | c.734C>G | p.A245G | Substitution - Missense | 17:15613970-15613970 | - |
PTC-14C | COSM4129590 | c.2139A>G | p.A713A | Substitution - coding silent | 17:15589095-15589095 | - |
TCGA-DK-A3IN-01 | COSM3795286 | c.17C>G | p.S6* | Substitution - Nonsense | 17:15619496-15619496 | - |
S32_pre | COSM5574483 | c.1891G>A | p.A631T | Substitution - Missense | 17:15593452-15593452 | - |
ESCC_BICR_071T | COSM5433485 | c.399G>A | p.K133K | Substitution - coding silent | 17:15619114-15619114 | - |
TCGA-AA-A00O-01 | COSM298939 | c.1781G>A | p.G594D | Substitution - Missense | 17:15594814-15594814 | - |
LUAD-S01345 | COSM396960 | c.728G>A | p.G243E | Substitution - Missense | 17:15613976-15613976 | - |
526LT | COSM975744 | c.1657C>T | p.R553* | Substitution - Nonsense | 17:15596561-15596561 | - |
1_PRE-TREATMENT | COSM1720765 | c.1152G>A | p.Q384Q | Substitution - coding silent | 17:15607654-15607654 | - |
NOKSI | COSM3980251 | c.2138C>T | p.A713V | Substitution - Missense | 17:15589096-15589096 | - |
TCGA-FV-A2QQ-01 | COSM4910807 | c.1232+2T>A | p.? | Unknown | 17:15607572-15607572 | - |
CHC301T | COSM3667951 | c.566C>G | p.S189C | Substitution - Missense | 17:15615749-15615749 | - |