## ENSEMBL VARIANT EFFECT PREDICTOR v84 ## Output produced at 2016-09-22 08:53:44 ## Using cache in /home/input1//homo_sapiens/84_GRCh37 ## Using API version 84, DB version ? ## polyphen version 2.2.2 ## sift version sift5.2.2 ## COSMIC version 71 ## ESP version 20141103 ## gencode version GENCODE 19 ## HGMD-PUBLIC version 20152 ## genebuild version 2011-04 ## regbuild version 13 ## assembly version GRCh37.p13 ## dbSNP version 144 ## ClinVar version 201507 ## Extra column keys: ## IMPACT : Subjective impact classification of consequence type ## DISTANCE : Shortest distance from variant to transcript ## STRAND : Strand of the feature (1/-1) ## FLAGS : Transcript quality flags ## SYMBOL : Gene symbol (e.g. HGNC) ## SYMBOL_SOURCE : Source of gene symbol ## HGNC_ID : Stable identifer of HGNC gene symbol ## ENSP : Protein identifer ## SWISSPROT : UniProtKB/Swiss-Prot identifier ## TREMBL : UniProtKB/TrEMBL identifier ## UNIPARC : UniParc identifier #Uploaded_variation Location Allele Gene Feature Feature_type Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation Extra TCGA-AA-1111 1:1325663 T ENSG00000221978 ENST00000400809 Transcript missense_variant 959 953 318 G/E gGg/gAg - IMPACT=MODERATE;STRAND=-1;SYMBOL=CCNL2;SYMBOL_SOURCE=HGNC;HGNC_ID=20570;ENSP=ENSP00000383611;SWISSPROT=CCNL2_HUMAN;TREMBL=J3QSH2_HUMAN,B4DE38_HUMAN;UNIPARC=UPI00000713F5 TCGA-AA-1111 1:2435841 G ENSG00000149527 ENST00000378486 Transcript missense_variant 3714 3440 1147 S/C tCc/tGc - IMPACT=MODERATE;STRAND=1;SYMBOL=PLCH2;SYMBOL_SOURCE=HGNC;HGNC_ID=29037;ENSP=ENSP00000367747;SWISSPROT=PLCH2_HUMAN;UNIPARC=UPI00005B72F8 TCGA-AA-1111 1:12364770 C ENSG00000048707 ENST00000358136 Transcript missense_variant 6554 6424 2142 E/Q Gag/Cag - IMPACT=MODERATE;STRAND=1;SYMBOL=VPS13D;SYMBOL_SOURCE=HGNC;HGNC_ID=23595;ENSP=ENSP00000350854;TREMBL=M0QXS2_HUMAN,J3KP14_HUMAN;UNIPARC=UPI0000451CA9 TCGA-AA-1111 1:16260296 A ENSG00000065526 ENST00000375759 Transcript missense_variant 7765 7561 2521 D/N Gac/Aac - IMPACT=MODERATE;STRAND=1;SYMBOL=SPEN;SYMBOL_SOURCE=HGNC;HGNC_ID=17575;ENSP=ENSP00000364912;SWISSPROT=MINT_HUMAN;UNIPARC=UPI000006FF0C TCGA-AA-1111 1:16262749 A ENSG00000065526 ENST00000375759 Transcript synonymous_variant 10218 10014 3338 K aaG/aaA - IMPACT=LOW;STRAND=1;SYMBOL=SPEN;SYMBOL_SOURCE=HGNC;HGNC_ID=17575;ENSP=ENSP00000364912;SWISSPROT=MINT_HUMAN;UNIPARC=UPI000006FF0C TCGA-AA-1111 1:18021748 T ENSG00000074964 ENST00000361221 Transcript missense_variant 3439 3280 1094 R/W Cgg/Tgg - IMPACT=MODERATE;STRAND=1;SYMBOL=ARHGEF10L;SYMBOL_SOURCE=HGNC;HGNC_ID=25540;ENSP=ENSP00000355060;SWISSPROT=ARGAL_HUMAN;UNIPARC=UPI00003664EA TCGA-AA-1111 1:19436596 A ENSG00000127481 ENST00000375254 Transcript missense_variant 12127 12099 4033 K/N aaG/aaT - IMPACT=MODERATE;STRAND=-1;SYMBOL=UBR4;SYMBOL_SOURCE=HGNC;HGNC_ID=30313;ENSP=ENSP00000364403;SWISSPROT=UBR4_HUMAN;TREMBL=Q96HY5_HUMAN;UNIPARC=UPI000021276F TCGA-AA-1111 10:7786827 G ENSG00000151655 ENST00000358415 Transcript missense_variant 2648 2482 828 L/V Ctt/Gtt - IMPACT=MODERATE;STRAND=1;SYMBOL=ITIH2;SYMBOL_SOURCE=HGNC;HGNC_ID=6167;ENSP=ENSP00000351190;SWISSPROT=ITIH2_HUMAN;UNIPARC=UPI000036665E TCGA-AA-1111 10:11047353 T ENSG00000048740 ENST00000379261 Transcript start_lost 95 3 1 M/I atG/atT - IMPACT=HIGH;STRAND=1;SYMBOL=CELF2;SYMBOL_SOURCE=HGNC;HGNC_ID=2550;ENSP=ENSP00000368563;SWISSPROT=CELF2_HUMAN;TREMBL=B4DZ01_HUMAN,B4DT00_HUMAN;UNIPARC=UPI0000072DD8 TCGA-AA-1111 10:13698952 C ENSG00000151474 ENST00000357447 Transcript missense_variant 3006 2637 879 F/L ttC/ttG - IMPACT=MODERATE;STRAND=-1;SYMBOL=FRMD4A;SYMBOL_SOURCE=HGNC;HGNC_ID=25491;ENSP=ENSP00000350032;SWISSPROT=FRM4A_HUMAN;TREMBL=F8WAN4_HUMAN;UNIPARC=UPI0000366665 TCGA-AA-1111 10:14909867 C ENSG00000187522 ENST00000378372 Transcript missense_variant 1578 1339 447 D/H Gat/Cat - IMPACT=MODERATE;STRAND=1;SYMBOL=HSPA14;SYMBOL_SOURCE=HGNC;HGNC_ID=29526;ENSP=ENSP00000367623;SWISSPROT=HSP7E_HUMAN;TREMBL=B4DYI5_HUMAN;UNIPARC=UPI000013D6A8 TCGA-AA-1111 11:3680949 A ENSG00000129744 ENST00000250693 Transcript missense_variant 301 200 67 T/K aCg/aAg - IMPACT=MODERATE;STRAND=1;SYMBOL=ART1;SYMBOL_SOURCE=HGNC;HGNC_ID=723;ENSP=ENSP00000250693;SWISSPROT=NAR1_HUMAN;UNIPARC=UPI000013CCC8 TCGA-AA-1111 11:4389102 C ENSG00000221996 ENST00000408920 Transcript missense_variant 515 424 142 L/V Ctg/Gtg - IMPACT=MODERATE;STRAND=-1;SYMBOL=OR52B4;SYMBOL_SOURCE=HGNC;HGNC_ID=15209;ENSP=ENSP00000386160;SWISSPROT=O52B4_HUMAN;UNIPARC=UPI000013F0A2 TCGA-AA-1111 11:8120357 T ENSG00000166402 ENST00000305253 Transcript stop_gained 1457 1216 406 Q/* Cag/Tag - IMPACT=HIGH;STRAND=1;SYMBOL=TUB;SYMBOL_SOURCE=HGNC;HGNC_ID=12406;ENSP=ENSP00000305426;SWISSPROT=TUB_HUMAN;TREMBL=Q9H4D2_HUMAN;UNIPARC=UPI000013EA27 TCGA-AA-1111 11:9450610 A ENSG00000205339 ENST00000379719 Transcript synonymous_variant 1600 1458 486 V gtG/gtA - IMPACT=LOW;STRAND=1;SYMBOL=IPO7;SYMBOL_SOURCE=HGNC;HGNC_ID=9852;ENSP=ENSP00000369042;SWISSPROT=IPO7_HUMAN;TREMBL=E9PLB2_HUMAN,B3KQG6_HUMAN,B3KNG9_HUMAN;UNIPARC=UPI0000072C06 TCGA-AA-1111 11:18555896 A ENSG00000151116 ENST00000396197 Transcript missense_variant 1258 1229 410 S/F tCt/tTt - IMPACT=MODERATE;STRAND=-1;SYMBOL=UEVLD;SYMBOL_SOURCE=HGNC;HGNC_ID=30866;ENSP=ENSP00000379500;SWISSPROT=UEVLD_HUMAN;TREMBL=B4DWH4_HUMAN,B4DIA9_HUMAN;UNIPARC=UPI00001AF2D2 TCGA-AA-1111 11:18637593 C ENSG00000179119 ENST00000336349 Transcript synonymous_variant 464 228 76 L ctC/ctG - IMPACT=LOW;STRAND=-1;SYMBOL=SPTY2D1;SYMBOL_SOURCE=HGNC;HGNC_ID=26818;ENSP=ENSP00000337991;SWISSPROT=SPT2_HUMAN;TREMBL=B4E223_HUMAN;UNIPARC=UPI00001607F0 TCGA-AA-1111 11:24998163 T ENSG00000187398 ENST00000336930 Transcript missense_variant 615 549 183 Q/H caA/caT - IMPACT=MODERATE;STRAND=1;SYMBOL=LUZP2;SYMBOL_SOURCE=HGNC;HGNC_ID=23206;ENSP=ENSP00000336817;SWISSPROT=LUZP2_HUMAN;UNIPARC=UPI000019816C TCGA-AA-1111 11:129999042 A ENSG00000084234 ENST00000263574 Transcript missense_variant 1468 1396 466 D/N Gac/Aac - IMPACT=MODERATE;STRAND=1;SYMBOL=APLP2;SYMBOL_SOURCE=HGNC;HGNC_ID=598;ENSP=ENSP00000263574;SWISSPROT=APLP2_HUMAN;TREMBL=Q9UED0_HUMAN;UNIPARC=UPI0000125CAE TCGA-AA-1111 12:442723 C ENSG00000073614 ENST00000399788 Transcript missense_variant 1946 1583 528 S/C tCc/tGc - IMPACT=MODERATE;STRAND=-1;SYMBOL=KDM5A;SYMBOL_SOURCE=HGNC;HGNC_ID=9886;ENSP=ENSP00000382688;SWISSPROT=KDM5A_HUMAN;UNIPARC=UPI0000DB2E73 TCGA-AA-1111 12:6672897 G ENSG00000111641 ENST00000382421 Transcript missense_variant 746 670 224 E/Q Gag/Cag - IMPACT=MODERATE;STRAND=-1;SYMBOL=NOP2;SYMBOL_SOURCE=HGNC;HGNC_ID=7867;ENSP=ENSP00000371858;SWISSPROT=NOP2_HUMAN;UNIPARC=UPI00005C3039 TCGA-AA-1111 12:6761554 C ENSG00000111653 ENST00000396807 Transcript synonymous_variant 570 531 177 T acC/acG - IMPACT=LOW;STRAND=-1;SYMBOL=ING4;SYMBOL_SOURCE=HGNC;HGNC_ID=19423;ENSP=ENSP00000380024;SWISSPROT=ING4_HUMAN;TREMBL=R4GNG1_HUMAN,E9PNE3_HUMAN;UNIPARC=UPI000006EFE0 TCGA-AA-1111 12:9229519 T ENSG00000175899 ENST00000318602 Transcript missense_variant 3673 3365 1122 R/H cGc/cAc - IMPACT=MODERATE;STRAND=-1;SYMBOL=A2M;SYMBOL_SOURCE=HGNC;HGNC_ID=7;ENSP=ENSP00000323929;SWISSPROT=A2MG_HUMAN;TREMBL=Q9BQ22_HUMAN,F8W7L3_HUMAN,F5H1E8_HUMAN;UNIPARC=UPI000014038F TCGA-AA-1111 12:9305844 T ENSG00000126838 ENST00000261336 Transcript synonymous_variant 3899 3870 1290 Q caG/caA - IMPACT=LOW;STRAND=-1;SYMBOL=PZP;SYMBOL_SOURCE=HGNC;HGNC_ID=9750;ENSP=ENSP00000261336;SWISSPROT=PZP_HUMAN;UNIPARC=UPI000013D168 TCGA-AA-1111 12:12588569 C ENSG00000165714 ENST00000314565 Transcript missense_variant 541 210 70 L/F ttG/ttC - IMPACT=MODERATE;STRAND=1;SYMBOL=LOH12CR1;SYMBOL_SOURCE=HGNC;HGNC_ID=17950;ENSP=ENSP00000321546;SWISSPROT=L12R1_HUMAN;UNIPARC=UPI000006E3BA TCGA-AA-1111 12:25260856 C ENSG00000118308 ENST00000354454 Transcript missense_variant 2191 1362 454 L/F ttG/ttC - IMPACT=MODERATE;STRAND=1;SYMBOL=LRMP;SYMBOL_SOURCE=HGNC;HGNC_ID=6690;ENSP=ENSP00000346442;SWISSPROT=LRMP_HUMAN;TREMBL=G3V513_HUMAN,G3V2F6_HUMAN,F8W9L6_HUMAN,F8VRE4_HUMAN,F5H006_HUMAN;UNIPARC=UPI000034ECC4 TCGA-AA-1111 12:26217937 C ENSG00000123094 ENST00000405154 Transcript missense_variant 809 610 204 E/Q Gag/Cag - IMPACT=MODERATE;STRAND=1;SYMBOL=RASSF8;SYMBOL_SOURCE=HGNC;HGNC_ID=13232;ENSP=ENSP00000384491;SWISSPROT=RASF8_HUMAN;TREMBL=H0YG85_HUMAN,F5H8C5_HUMAN,F5H8B9_HUMAN,F5H7J1_HUMAN,F5H343_HUMAN,F5H0S5_HUMAN,F5GYP8_HUMAN;UNIPARC=UPI00001FB7C1 TCGA-AA-1111 12:125284769 T ENSG00000073060 ENST00000261693 Transcript synonymous_variant 1156 1029 343 S tcC/tcA - IMPACT=LOW;STRAND=-1;SYMBOL=SCARB1;SYMBOL_SOURCE=HGNC;HGNC_ID=1664;ENSP=ENSP00000261693;SWISSPROT=SCRB1_HUMAN;UNIPARC=UPI000014CE1C TCGA-AA-1111 13:20006667 C ENSG00000132958 ENST00000400230 Transcript missense_variant 1213 1168 390 L/V Ctc/Gtc - IMPACT=MODERATE;STRAND=-1;SYMBOL=TPTE2;SYMBOL_SOURCE=HGNC;HGNC_ID=17299;ENSP=ENSP00000383089;SWISSPROT=TPTE2_HUMAN;UNIPARC=UPI000040738D TCGA-AA-1111 13:23930039 C ENSG00000151835 ENST00000382298 Transcript missense_variant 1301 712 238 K/E Aaa/Gaa - IMPACT=MODERATE;STRAND=-1;SYMBOL=SACS;SYMBOL_SOURCE=HGNC;HGNC_ID=10519;ENSP=ENSP00000371735;SWISSPROT=SACS_HUMAN;UNIPARC=UPI000047039D TCGA-AA-1111 13:102051408 A ENSG00000102452 ENST00000251127 Transcript synonymous_variant 152 70 24 L Ctg/Ttg - IMPACT=LOW;STRAND=-1;SYMBOL=NALCN;SYMBOL_SOURCE=HGNC;HGNC_ID=19082;ENSP=ENSP00000251127;SWISSPROT=NALCN_HUMAN;TREMBL=B3KX53_HUMAN,B3KMK1_HUMAN;UNIPARC=UPI000004EBBD TCGA-AA-1111 13:103718286 T ENSG00000125255 ENST00000245312 Transcript missense_variant 911 314 105 C/Y tGc/tAc - IMPACT=MODERATE;STRAND=-1;SYMBOL=SLC10A2;SYMBOL_SOURCE=HGNC;HGNC_ID=10906;ENSP=ENSP00000245312;SWISSPROT=NTCP2_HUMAN;UNIPARC=UPI000013CB9B TCGA-AA-1111 13:110434606 G ENSG00000185950 ENST00000375856 Transcript synonymous_variant 4310 3795 1265 P ccA/ccC - IMPACT=LOW;STRAND=-1;SYMBOL=IRS2;SYMBOL_SOURCE=HGNC;HGNC_ID=6126;ENSP=ENSP00000365016;SWISSPROT=IRS2_HUMAN;TREMBL=Q9UP29_HUMAN,Q8TF73_HUMAN;UNIPARC=UPI000006E4A8 TCGA-AA-1111 14:20856168 C ENSG00000129566 ENST00000262715 Transcript missense_variant 2621 2580 860 D/E gaC/gaG - IMPACT=MODERATE;STRAND=-1;SYMBOL=TEP1;SYMBOL_SOURCE=HGNC;HGNC_ID=11726;ENSP=ENSP00000262715;SWISSPROT=TEP1_HUMAN;TREMBL=G3V591_HUMAN;UNIPARC=UPI000013D30B TCGA-AA-1111 14:24617000-24617001 AA ENSG00000092098 ENST00000324103 Transcript missense_variant 413-414 93-94 31-32 LE/LK ctGGag/ctAAag - IMPACT=MODERATE;STRAND=1;SYMBOL=RNF31;SYMBOL_SOURCE=HGNC;HGNC_ID=16031;ENSP=ENSP00000315112;SWISSPROT=RNF31_HUMAN;TREMBL=H0YNK5_HUMAN,H0YNJ0_HUMAN,H0YNC1_HUMAN,H0YMK6_HUMAN,H0YM83_HUMAN,H0YM57_HUMAN,H0YM13_HUMAN;UNIPARC=UPI0000072F93 TCGA-AA-1111 14:105954549 A ENSG00000213145 ENST00000330233 Transcript synonymous_variant 1030 87 29 L ctG/ctA - IMPACT=LOW;STRAND=1;SYMBOL=CRIP1;SYMBOL_SOURCE=HGNC;HGNC_ID=2360;ENSP=ENSP00000332449;SWISSPROT=CRIP1_HUMAN;UNIPARC=UPI0000044940 TCGA-AA-1111 15:22993125 T ENSG00000068793 ENST00000313077 Transcript synonymous_variant 3137 3012 1004 I atC/atT - IMPACT=LOW;STRAND=1;SYMBOL=CYFIP1;SYMBOL_SOURCE=HGNC;HGNC_ID=13759;ENSP=ENSP00000324549;SWISSPROT=CYFP1_HUMAN;TREMBL=H0YLJ5_HUMAN,H0YL39_HUMAN;UNIPARC=UPI0000163A89 TCGA-AA-1111 15:90784743 T ENSG00000183208 ENST00000558017 Transcript synonymous_variant 1023 603 201 F ttC/ttT - IMPACT=LOW;STRAND=1;SYMBOL=GDPGP1;SYMBOL_SOURCE=HGNC;HGNC_ID=34360;ENSP=ENSP00000452793;SWISSPROT=GDPP1_HUMAN;TREMBL=H0YN11_HUMAN,H0YL31_HUMAN;UNIPARC=UPI00002378F3 TCGA-AA-1111 15:101872078 A ENSG00000140479 ENST00000348070 Transcript stop_gained 2014 2014 672 E/* Gaa/Taa - IMPACT=HIGH;STRAND=-1;SYMBOL=PCSK6;SYMBOL_SOURCE=HGNC;HGNC_ID=8569;ENSP=ENSP00000305056;SWISSPROT=PCSK6_HUMAN;TREMBL=A2RQD9_HUMAN;UNIPARC=UPI00001AE92B TCGA-AA-1111 16:111597 T ENSG00000007384 ENST00000262316 Transcript missense_variant 1449 1306 436 E/K Gag/Aag - IMPACT=MODERATE;STRAND=-1;SYMBOL=RHBDF1;SYMBOL_SOURCE=HGNC;HGNC_ID=20561;ENSP=ENSP00000262316;SWISSPROT=RHDF1_HUMAN;TREMBL=A2IDA2_HUMAN;UNIPARC=UPI00001A5206 TCGA-AA-1111 16:230775-230776 AA ENSG00000086506 ENST00000199708 Transcript missense_variant 240-241 206-207 69 L/Q cTC/cAA - IMPACT=MODERATE;STRAND=1;SYMBOL=HBQ1;SYMBOL_SOURCE=HGNC;HGNC_ID=4833;ENSP=ENSP00000199708;SWISSPROT=HBAT_HUMAN;UNIPARC=UPI000013C621 TCGA-AA-1111 16:632999 T ENSG00000007541 ENST00000026218 Transcript synonymous_variant 1736 1648 550 L Cta/Tta - IMPACT=LOW;STRAND=1;SYMBOL=PIGQ;SYMBOL_SOURCE=HGNC;HGNC_ID=14135;ENSP=ENSP00000026218;SWISSPROT=PIGQ_HUMAN;TREMBL=J3QTH6_HUMAN,B8ZZC7_HUMAN,B8ZZ31_HUMAN,B8ZZ29_HUMAN;UNIPARC=UPI000006CC88 TCGA-AA-1111 16:89348054 G ENSG00000167522 ENST00000301030 Transcript missense_variant 5357 4896 1632 K/N aaG/aaC - IMPACT=MODERATE;STRAND=-1;SYMBOL=ANKRD11;SYMBOL_SOURCE=HGNC;HGNC_ID=21316;ENSP=ENSP00000301030;SWISSPROT=ANR11_HUMAN;UNIPARC=UPI00004569E1 TCGA-AA-1111 16:89838145 T ENSG00000187741 ENST00000389301 Transcript missense_variant 2123 2092 698 E/K Gag/Aag - IMPACT=MODERATE;STRAND=-1;SYMBOL=FANCA;SYMBOL_SOURCE=HGNC;HGNC_ID=3582;ENSP=ENSP00000373952;SWISSPROT=FANCA_HUMAN;TREMBL=H3BT53_HUMAN;UNIPARC=UPI0000520A1A TCGA-AA-1111 17:1564436 A ENSG00000174231 ENST00000572621 Transcript synonymous_variant 4625 4359 1453 F ttC/ttT - IMPACT=LOW;STRAND=-1;SYMBOL=PRPF8;SYMBOL_SOURCE=HGNC;HGNC_ID=17340;ENSP=ENSP00000460348;SWISSPROT=PRP8_HUMAN;UNIPARC=UPI000006F2DD TCGA-AA-1111 17:1564447 C ENSG00000174231 ENST00000572621 Transcript missense_variant 4614 4348 1450 Q/E Cag/Gag - IMPACT=MODERATE;STRAND=-1;SYMBOL=PRPF8;SYMBOL_SOURCE=HGNC;HGNC_ID=17340;ENSP=ENSP00000460348;SWISSPROT=PRP8_HUMAN;UNIPARC=UPI000006F2DD TCGA-AA-1111 17:78111251 C ENSG00000141543 ENST00000269349 Transcript stop_gained 1139 917 306 S/* tCa/tGa - IMPACT=HIGH;STRAND=-1;SYMBOL=EIF4A3;SYMBOL_SOURCE=HGNC;HGNC_ID=18683;ENSP=ENSP00000269349;SWISSPROT=IF4A3_HUMAN;UNIPARC=UPI000012D374 TCGA-AA-1111 17:79893381 T ENSG00000183010 ENST00000329875 Transcript synonymous_variant 215 150 50 V gtG/gtA - IMPACT=LOW;STRAND=-1;SYMBOL=PYCR1;SYMBOL_SOURCE=HGNC;HGNC_ID=9721;ENSP=ENSP00000328858;SWISSPROT=P5CR1_HUMAN;TREMBL=Q8TBX0_HUMAN,J3QRZ0_HUMAN,J3QLK9_HUMAN,J3QL24_HUMAN,J3QKT4_HUMAN,J3QKT3_HUMAN,J3KTA8_HUMAN,J3KSA9_HUMAN,J3KQ22_HUMAN;UNIPARC=UPI0000163C1F TCGA-AA-1111 18:641518 C ENSG00000079101 ENST00000400606 Transcript missense_variant 1331 1186 396 E/Q Gag/Cag - IMPACT=MODERATE;STRAND=1;SYMBOL=CLUL1;SYMBOL_SOURCE=HGNC;HGNC_ID=2096;ENSP=ENSP00000383449;SWISSPROT=CLUL1_HUMAN;UNIPARC=UPI00000499ED TCGA-AA-1111 18:3129355 A ENSG00000101605 ENST00000356443 Transcript missense_variant 3003 2669 890 N/I aAc/aTc - IMPACT=MODERATE;STRAND=-1;SYMBOL=MYOM1;SYMBOL_SOURCE=HGNC;HGNC_ID=7613;ENSP=ENSP00000348821;SWISSPROT=MYOM1_HUMAN;UNIPARC=UPI000022A657 TCGA-AA-1111 18:72345042 A ENSG00000215421 ENST00000299687 Transcript synonymous_variant 2067 2067 689 S tcC/tcA - IMPACT=LOW;STRAND=1;SYMBOL=ZNF407;SYMBOL_SOURCE=HGNC;HGNC_ID=19904;ENSP=ENSP00000299687;SWISSPROT=ZN407_HUMAN;UNIPARC=UPI0000F58ED1 TCGA-AA-1111 19:804643 A ENSG00000011304 ENST00000356948 Transcript missense_variant 970 547 183 V/M Gtg/Atg - IMPACT=MODERATE;STRAND=1;SYMBOL=PTBP1;SYMBOL_SOURCE=HGNC;HGNC_ID=9583;ENSP=ENSP00000349428;SWISSPROT=PTBP1_HUMAN;UNIPARC=UPI00000720B7 TCGA-AA-1111 19:1863162 C ENSG00000129911 ENST00000250916 Transcript missense_variant 406 335 112 S/W tCg/tGg - IMPACT=MODERATE;STRAND=-1;SYMBOL=KLF16;SYMBOL_SOURCE=HGNC;HGNC_ID=16857;ENSP=ENSP00000250916;SWISSPROT=KLF16_HUMAN;UNIPARC=UPI0000126B0D TCGA-AA-1111 19:10476364 G ENSG00000105397 ENST00000525621 Transcript synonymous_variant 1322 840 280 L ctG/ctC - IMPACT=LOW;STRAND=-1;SYMBOL=TYK2;SYMBOL_SOURCE=HGNC;HGNC_ID=12440;ENSP=ENSP00000431885;SWISSPROT=TYK2_HUMAN;TREMBL=E9PQM4_HUMAN,E9PQL2_HUMAN,E9PM19_HUMAN;UNIPARC=UPI000013D573 TCGA-AA-1111 19:10478979 A ENSG00000105397 ENST00000525621 Transcript synonymous_variant 791 309 103 F ttC/ttT - IMPACT=LOW;STRAND=-1;SYMBOL=TYK2;SYMBOL_SOURCE=HGNC;HGNC_ID=12440;ENSP=ENSP00000431885;SWISSPROT=TYK2_HUMAN;TREMBL=E9PQM4_HUMAN,E9PQL2_HUMAN,E9PM19_HUMAN;UNIPARC=UPI000013D573