Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error ENSG00000210112 0 genome.wustl.edu 36 MT 4419 4419 + RNA SNP T C C novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 MT 4419 4419 T C SNP ENSG00000210112 ENST00000387377 human ensembl 54_36p +1 novel rna NULL NULL NULL - - - no_errors MT-ND3 4537 genome.wustl.edu 36 MT 10174 10174 + Missense_Mutation SNP T T C novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 MT 10174 10174 T C SNP MT-ND3 ENST00000361227 human ensembl 54_36p +1 known missense c.115 p.C39R NULL HMMPfam_Oxidored_q4 HMMPfam_Oxidored_q4 - no_stop_codon:bad_bp_length_for_coding_region MT-ND4 4538 genome.wustl.edu 36 MT 11149 11149 + Missense_Mutation SNP T T G novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 MT 11149 11149 T G SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known missense c.389 p.L130W NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region C9orf66 157983 genome.wustl.edu 36 9 204675 204675 + Missense_Mutation SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 9 204675 204675 C T SNP C9orf66 NM_152569 human genbank 54_36p -1 validated missense c.722 p.G241E 0.258 NULL NULL - no_errors MMEL1 79258 genome.wustl.edu 36 1 2515216 2515216 + Silent SNP G A A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 1 2515216 2515216 G A SNP MMEL1 NM_033467 human genbank 54_36p -1 reviewed silent c.1737 p.I579 1.000 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13" "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" - no_errors TRPV3 162514 genome.wustl.edu 36 17 3376921 3376921 + Silent SNP C T T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 17 3376921 3376921 C T SNP TRPV3 NM_145068 human genbank 54_36p -1 reviewed silent c.1554 p.S518 0.956 HMMPfam_Ion_trans superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans - no_errors TP53 7157 genome.wustl.edu 36 17 7519167 7519167 + Missense_Mutation SNP T C C novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 17 7519167 7519167 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.488 p.Y163C 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors PFAS 5198 genome.wustl.edu 36 17 8110924 8110924 + Missense_Mutation SNP G G T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 17 8110924 8110924 G T SNP PFAS NM_012393 human genbank 54_36p +1 reviewed missense c.2950 p.A984S 0.000 superfamily_PurM C-terminal domain-like,HMMPfam_AIRS_C superfamily_PurS-like,superfamily_FGAM synthase PurL linker domain,superfamily_PurM N-terminal domain-like,HMMPfam_AIRS,superfamily_PurM C-terminal domain-like,HMMPfam_AIRS_C,superfamily_Class I glutamine amidotransferase-like - no_errors ARHGEF15 22899 genome.wustl.edu 36 17 8156289 8156289 + Silent SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 17 8156289 8156289 C T SNP ARHGEF15 NM_173728 human genbank 54_36p +1 reviewed silent c.207 p.S69 0.811 NULL PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729 - no_errors ZNF439 90594 genome.wustl.edu 36 19 11838141 11838141 + Missense_Mutation SNP C C G novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 19 11838141 11838141 C G SNP ZNF439 NM_152262 human genbank 54_36p +1 provisional missense c.170 p.S57C 0.250 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors HIRA 7290 genome.wustl.edu 36 22 17721597 17721597 + Missense_Mutation SNP T T A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 22 17721597 17721597 T A SNP HIRA NM_003325 human genbank 54_36p -1 reviewed missense c.2606 p.D869V 1.000 HMMPfam_Hira HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_HIRA_B,HMMPfam_Hira - no_errors RPGRIP1 57096 genome.wustl.edu 36 14 20862739 20862739 + Missense_Mutation SNP G G C novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 14 20862739 20862739 G C SNP RPGRIP1 NM_020366 human genbank 54_36p +1 reviewed missense c.1885 p.E629Q 1.000 NULL superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2 - no_errors PRKCB 5579 genome.wustl.edu 36 16 23756222 23756222 + Missense_Mutation SNP T T A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 16 23756222 23756222 T A SNP PRKCB NM_002738 human genbank 54_36p +1 reviewed missense c.199 p.C67S 1.000 superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1 superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C - no_errors ASXL1 171023 genome.wustl.edu 36 20 30480885 30480885 + Silent SNP A A G novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 20 30480885 30480885 A G SNP ASXL1 NM_015338 human genbank 54_36p +1 reviewed silent c.555 p.E185 1.000 NULL NULL - no_errors ZEB1 6935 genome.wustl.edu 36 10 31850585 31850585 + Silent SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 10 31850585 31850585 C T SNP ZEB1 NM_030751 human genbank 54_36p +1 validated silent c.2316 p.C772 0.999 NULL PatternScan_HOMEOBOX_1,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_HOX - no_errors LOC647211 647211 genome.wustl.edu 36 16 33287505 33287505 + RNA SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 16 33287505 33287505 G A SNP LOC647211 XR_017499 human genbank 54_36p +1 model rna NULL NULL 0.971 - - - pseudogene LOC100132267 0 genome.wustl.edu 36 16 33844298 33844298 + Missense_Mutation SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 16 33844298 33844298 G A SNP LOC100132267 XM_001718197 human genbank 54_36p -1 model missense c.257 p.P86L 0.072 NULL NULL - no_errors LOC158381 158381 genome.wustl.edu 36 9 35439788 35439788 + RNA SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 9 35439788 35439788 C T SNP LOC158381 NR_003582 human genbank 54_36p +1 provisional rna NULL NULL 1.000 - - - pseudogene AOC3 8639 genome.wustl.edu 36 17 38257871 38257871 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 17 38257871 38257871 C T SNP AOC3 NM_003734 human genbank 54_36p +1 reviewed nonsense c.985 p.R329* 0.534 superfamily_CuNH_oxidase,HMMPfam_Cu_amine_oxid superfamily_Cu_amine_oxidase_N-reg,HMMPfam_Cu_amine_oxidN2,HMMPfam_Cu_amine_oxidN3,superfamily_CuNH_oxidase,HMMPfam_Cu_amine_oxid,PatternScan_COPPER_AMINE_OXID_1,PatternScan_COPPER_AMINE_OXID_2 - no_errors SFRS7 6432 genome.wustl.edu 36 2 38830758 38830758 + Missense_Mutation SNP T T G novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 2 38830758 38830758 T G SNP SFRS7 NM_001031684 human genbank 54_36p -1 validated missense c.111 p.L37F 0.983 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_zf-CCHC - no_errors KIF18B 146909 genome.wustl.edu 36 17 40364523 40364523 + Missense_Mutation SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 17 40364523 40364523 C T SNP KIF18B NM_001080443 human genbank 54_36p -1 provisional missense c.1526 p.R509Q 0.004 NULL HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1 - no_errors CEP27 55142 genome.wustl.edu 36 15 40643344 40643344 + Missense_Mutation SNP A A T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 15 40643344 40643344 A T SNP CEP27 NM_018097 human genbank 54_36p +1 validated missense c.495 p.K165N 1.000 NULL NULL - no_errors ANK1 286 genome.wustl.edu 36 8 41690849 41690849 + Silent SNP G T T rs61753679 unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 8 41690849 41690849 G T SNP ANK1 NM_020476 human genbank 54_36p -1 reviewed silent c.1782 p.S594 1.000 superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00005,superfamily_DEATH domain,HMMPfam_Death - no_errors LOC342892 342892 genome.wustl.edu 36 19 41930702 41930702 + Missense_Mutation SNP T T A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 19 41930702 41930702 T A SNP LOC342892 XM_001720258 human genbank 54_36p -1 model missense c.3074 p.H1025L 0.043 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - pseudogene CDC20 991 genome.wustl.edu 36 1 43601299 43601299 + Missense_Mutation SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 1 43601299 43601299 G A SNP CDC20 NM_001255 human genbank 54_36p +1 reviewed missense c.1412 p.R471H 1.000 superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors ABCA13 154664 genome.wustl.edu 36 7 48420721 48420721 + Missense_Mutation SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 7 48420721 48420721 C T SNP ABCA13 NM_152701 human genbank 54_36p +1 reviewed missense c.11966 p.A3989V 0.271 NULL PatternScan_SERPIN - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EMB 133418 genome.wustl.edu 36 5 49742549 49742549 + Missense_Mutation SNP T T C novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 5 49742549 49742549 T C SNP EMB NM_198449 human genbank 54_36p -1 reviewed missense c.391 p.I131V 0.000 superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409 - no_errors AGAP6 0 genome.wustl.edu 36 10 51418563 51418563 + Missense_Mutation SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 10 51418563 51418563 G A SNP AGAP6 ENST00000374056 human ensembl 54_36p +1 known missense c.82 p.E28K 0.099 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors PFDN5 5204 genome.wustl.edu 36 12 51978097 51978097 + Missense_Mutation SNP C C G novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 12 51978097 51978097 C G SNP PFDN5 NM_002624 human genbank 54_36p +1 reviewed missense c.284 p.T95R 1.000 superfamily_Prefoldin,HMMPfam_Prefoldin superfamily_Prefoldin,HMMPfam_Prefoldin - no_errors KIT 3815 genome.wustl.edu 36 4 55256513 55256513 + Missense_Mutation SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 4 55256513 55256513 G A SNP KIT NM_000222 human genbank 54_36p +1 reviewed missense c.146 p.R49H 0.000 superfamily_SSF48726 superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR - no_errors PCK1 5105 genome.wustl.edu 36 20 55572821 55572821 + Silent SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 20 55572821 55572821 G A SNP PCK1 NM_002591 human genbank 54_36p +1 reviewed silent c.1152 p.T384 0.295 HMMPfam_PEPCK,superfamily_SSF53795 superfamily_PEP_carboxykinase_N,HMMPfam_PEPCK,superfamily_SSF53795,PatternScan_PEPCK_GTP - no_errors TH1L 51497 genome.wustl.edu 36 20 56999762 56999762 + Missense_Mutation SNP A A G novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 20 56999762 56999762 A G SNP TH1L NM_198976 human genbank 54_36p +1 reviewed missense c.982 p.I328V 1.000 HMMPfam_TH1 HMMPfam_TH1 - no_errors SRP72 6731 genome.wustl.edu 36 4 57052412 57052412 + Missense_Mutation SNP C C A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 4 57052412 57052412 C A SNP SRP72 NM_006947 human genbank 54_36p +1 validated missense c.1561 p.L521I 1.000 NULL superfamily_SSF48452,HMMPfam_TPR_1,HMMPfam_SRP72 - no_errors RNF111 54778 genome.wustl.edu 36 15 57174275 57174275 + Missense_Mutation SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 15 57174275 57174275 C T SNP RNF111 NM_017610 human genbank 54_36p +1 reviewed missense c.2845 p.R949C 1.000 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors ZNF479 90827 genome.wustl.edu 36 7 57192761 57192761 + Silent SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 7 57192761 57192761 C T SNP ZNF479 NM_033273 human genbank 54_36p -1 provisional silent c.303 p.Q101 0.000 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors SLCO4A1 28231 genome.wustl.edu 36 20 60773709 60773709 + Silent SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 20 60773709 60773709 C T SNP SLCO4A1 ENST00000342674 human ensembl 54_36p +1 known silent c.1650 p.P550 0.014 NULL HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2 - no_errors HTR1A 3350 genome.wustl.edu 36 5 63292912 63292912 + Missense_Mutation SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 5 63292912 63292912 C T SNP HTR1A NM_000524 human genbank 54_36p -1 validated missense c.391 p.A131T 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors B3GNT1 10678 genome.wustl.edu 36 11 65870605 65870605 + Missense_Mutation SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 11 65870605 65870605 C T SNP B3GNT1 NM_006876 human genbank 54_36p -1 reviewed missense c.988 p.V330M 1.000 NULL NULL - no_errors TMPRSS11F 389208 genome.wustl.edu 36 4 68620634 68620634 + Splice_Site SNP A A C novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 4 68620634 68620634 A C SNP TMPRSS11F NM_207407 human genbank 54_36p -1 validated splice_site c.514+2 e5+2 0.997 - - - no_errors SHANK2 22941 genome.wustl.edu 36 11 70010206 70010206 + Silent SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 11 70010206 70010206 G A SNP SHANK2 NM_012309 human genbank 54_36p -1 reviewed silent c.2055 p.N685 1.000 NULL superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1 - no_errors MUC7 4589 genome.wustl.edu 36 4 71381870 71381870 + Missense_Mutation SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 4 71381870 71381870 G A SNP MUC7 NM_152291 human genbank 54_36p +1 reviewed missense c.820 p.A274T 0.000 NULL NULL - no_errors LOC401074 401074 genome.wustl.edu 36 3 75802830 75802830 + Missense_Mutation SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 3 75802830 75802830 G A SNP LOC401074 XM_001714392 human genbank 54_36p +1 model missense c.115 p.V39M 0.000 NULL NULL - no_errors SH3GL3 6457 genome.wustl.edu 36 15 82028363 82028363 + Missense_Mutation SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 15 82028363 82028363 C T SNP SH3GL3 NM_003027 human genbank 54_36p +1 validated missense c.290 p.T97M 0.997 HMMSmart_BAR,HMMPfam_BAR HMMSmart_BAR,HMMPfam_BAR,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors WDR21C 138009 genome.wustl.edu 36 8 88955205 88955205 + Silent SNP G A A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 8 88955205 88955205 G A SNP WDR21C NM_152418 human genbank 54_36p -1 validated silent c.111 p.L37 0.032 superfamily_WD40_like PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 - no_errors AMOTL1 154810 genome.wustl.edu 36 11 94172257 94172257 + Missense_Mutation SNP G G T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 11 94172257 94172257 G T SNP AMOTL1 NM_130847 human genbank 54_36p +1 reviewed missense c.253 p.V85L 1.000 NULL NULL - no_errors UNG 7374 genome.wustl.edu 36 12 108021451 108021451 + Silent SNP C C G novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 12 108021451 108021451 C G SNP UNG NM_080911 human genbank 54_36p +1 reviewed silent c.414 p.T138 0.991 superfamily_DNA glycosylase superfamily_DNA glycosylase,HMMPfam_UDG,PatternScan_U_DNA_GLYCOSYLASE - no_errors MVK 4598 genome.wustl.edu 36 12 108498254 108498254 + Silent SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 12 108498254 108498254 G A SNP MVK NM_000431 human genbank 54_36p +1 reviewed silent c.147 p.V49 0.070 superfamily_Ribosomal protein S5 domain 2-like superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_GHMP_kinases_N,PatternScan_GHMP_KINASES_ATP,superfamily_GHMP Kinase C-terminal domain,HMMPfam_GHMP_kinases_C - no_errors SH3RF3 344558 genome.wustl.edu 36 2 109432349 109432349 + Missense_Mutation SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 2 109432349 109432349 G A SNP SH3RF3 NM_001099289 human genbank 54_36p +1 provisional missense c.2120 p.C707Y 0.099 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_stop_codon GNAI3 2773 genome.wustl.edu 36 1 109926612 109926612 + Missense_Mutation SNP G G T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 1 109926612 109926612 G T SNP GNAI3 NM_006496 human genbank 54_36p +1 validated missense c.492 p.Q164H 0.995 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_Transducin (alpha subunit) insertion domain superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_Transducin (alpha subunit) insertion domain - no_errors ENSG00000208615 0 genome.wustl.edu 36 2 114755191 114755191 + RNA SNP C C A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 2 114755191 114755191 C A SNP ENSG00000208615 ENST00000385880 human ensembl 54_36p -1 novel rna NULL NULL 0.014 - - - pseudogene HMBS 3145 genome.wustl.edu 36 11 118465912 118465912 + Missense_Mutation SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 11 118465912 118465912 G A SNP HMBS NM_000190 human genbank 54_36p +1 reviewed missense c.347 p.R116Q 1.000 superfamily_Periplasmic binding protein-like II,HMMPfam_Porphobil_deam superfamily_Periplasmic binding protein-like II,HMMPfam_Porphobil_deam,superfamily_Porphobilinogen deaminase (hydroxymethylbilane synthase) C-terminal domain,HMMPfam_Porphobil_deamC,PatternScan_PORPHOBILINOGEN_DEAM - no_errors VNN2 8875 genome.wustl.edu 36 6 133114280 133114280 + Silent SNP A A G novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 6 133114280 133114280 A G SNP VNN2 NM_004665 human genbank 54_36p -1 reviewed silent c.897 p.L299 0.011 superfamily_Ntlse/CNhydtse superfamily_Ntlse/CNhydtse,HMMPfam_CN_hydrolase - no_errors TMEM71 137835 genome.wustl.edu 36 8 133833383 133833383 + Silent SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 8 133833383 133833383 G A SNP TMEM71 NM_144649 human genbank 54_36p -1 validated silent c.144 p.C48 0.997 NULL NULL - no_errors COL5A1 1289 genome.wustl.edu 36 9 136866782 136866782 + Missense_Mutation SNP G G T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 9 136866782 136866782 G T SNP COL5A1 NM_000093 human genbank 54_36p +1 reviewed missense c.5281 p.D1761Y 1.000 HMMSmart_COLFI,HMMPfam_COLFI HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI - no_errors PCDHA4 56144 genome.wustl.edu 36 5 140167687 140167687 + Missense_Mutation SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 5 140167687 140167687 G A SNP PCDHA4 NM_018907 human genbank 54_36p +1 reviewed missense c.731 p.R244K 0.107 superfamily_Cadherin-like superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors PCDHB17 54661 genome.wustl.edu 36 5 140518069 140518069 + RNA SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 5 140518069 140518069 G A SNP PCDHB17 NR_001280 human genbank 54_36p +1 provisional rna NULL NULL 0.000 - - - pseudogene LOC100128176 100128176 genome.wustl.edu 36 6 149327528 149327528 + Missense_Mutation SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 6 149327528 149327528 C T SNP LOC100128176 XM_001718081 human genbank 54_36p -1 model missense c.644 p.R215Q 0.000 NULL NULL - no_errors OPN1LW 5956 genome.wustl.edu 36 X 153075070 153075070 + Nonsense_Mutation SNP C C A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 X 153075070 153075070 C A SNP OPN1LW NM_020061 human genbank 54_36p +1 reviewed nonsense c.852 p.Y284* 0.983 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN - no_errors DPM3 54344 genome.wustl.edu 36 1 153379116 153379116 + Silent SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 1 153379116 153379116 C T SNP DPM3 NM_018973 human genbank 54_36p -1 reviewed silent c.315 p.Q105 0.860 HMMPfam_DPM3 HMMPfam_DPM3 - no_errors P2RY1 5028 genome.wustl.edu 36 3 154037241 154037241 + Missense_Mutation SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 3 154037241 154037241 C T SNP P2RY1 NM_002563 human genbank 54_36p +1 reviewed missense c.980 p.A327V 0.999 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR6K6 128371 genome.wustl.edu 36 1 156991517 156991517 + Silent SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 1 156991517 156991517 C T SNP OR6K6 NM_001005184 human genbank 54_36p +1 provisional silent c.288 p.F96 0.898 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PLG 5340 genome.wustl.edu 36 6 161059748 161059748 + Missense_Mutation SNP C C A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 6 161059748 161059748 C A SNP PLG NM_000301 human genbank 54_36p +1 validated missense c.984 p.D328E 1.000 HMMSmart_KR,superfamily_Kringle-like,HMMPfam_Kringle,PatternScan_KRINGLE_1 HMMPfam_PAN_1,superfamily_SSF57414,HMMSmart_PAN_AP,superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Pept_Ser_Cys,HMMSmart_Tryp_SPc,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors NUF2 83540 genome.wustl.edu 36 1 161584228 161584228 + Silent SNP T T C novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 1 161584228 161584228 T C SNP NUF2 NM_031423 human genbank 54_36p +1 reviewed silent c.1000 p.L334 0.945 NULL HMMPfam_Nuf2 - no_errors ADAM29 11086 genome.wustl.edu 36 4 176135658 176135658 + Missense_Mutation SNP C C A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 4 176135658 176135658 C A SNP ADAM29 NM_014269 human genbank 54_36p +1 reviewed missense c.2407 p.Q803K 0.036 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR" - no_errors FAM149A 25854 genome.wustl.edu 36 4 187323534 187323534 + Missense_Mutation SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 4 187323534 187323534 G A SNP FAM149A ENST00000356371 human ensembl 54_36p +1 known missense c.1087 p.V363I 0.000 NULL NULL - no_errors LOC728615 728615 genome.wustl.edu 36 1 220709304 220709304 + RNA SNP C C T novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 1 220709304 220709304 C T SNP LOC728615 XR_042338 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene TARBP1 6894 genome.wustl.edu 36 1 232631922 232631922 + Missense_Mutation SNP T T A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 1 232631922 232631922 T A SNP TARBP1 NM_005646 human genbank 54_36p -1 reviewed missense c.2734 p.S912C 0.000 NULL superfamily_ARM-type_fold,superfamily_SSF75217,HMMPfam_SpoU_methylase - no_errors SH3BP4 23677 genome.wustl.edu 36 2 235626052 235626052 + Silent SNP G G A novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 2 235626052 235626052 G A SNP SH3BP4 NM_014521 human genbank 54_36p +1 reviewed silent c.2586 p.E862 1.000 NULL superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2 - no_errors STXBP2 6813 genome.wustl.edu 36 19 7611300 7611301 + Frame_Shift_Ins INS - - TG novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 19 7611300 7611301 - TG INS STXBP2 ENST00000320400 human ensembl 54_36p +1 known frame_shift_ins c.492_493 p.C165fs 0.011:0.022 PatternScan_VWFC_1 PatternScan_VWFC_1,HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins,PatternScan_ZINC_FINGER_C2H2_1 - no_start_codon SLC34A2 10568 genome.wustl.edu 36 4 25287246 25287251 + In_Frame_Del DEL GCTGCT GCTGCT - novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 GCTGCT GCTGCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 4 25287246 25287251 GCTGCT - DEL SLC34A2 NM_006424 human genbank 54_36p +1 validated in_frame_del c.1850_1855 p.CC621in_frame_del 0.453:0.606:0.986:1.000:1.000:1.000 NULL HMMPfam_Na_Pi_cotrans (deletion:cds_exon[25286855,25287469]) no_errors SERINC2 347735 genome.wustl.edu 36 1 31678476 31678477 + In_Frame_Ins INS - - CAG novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 1 31678476 31678477 - CAG INS SERINC2 NM_178865 human genbank 54_36p +1 validated in_frame_ins c.1089_1090 p.367in_frame_insQ 0.300:0.539 HMMPfam_Serinc HMMPfam_Serinc - no_errors KIAA1219 57148 genome.wustl.edu 36 20 36601885 36601886 + Frame_Shift_Del DEL GC GC - novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 GC GC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 20 36601885 36601886 GC - DEL KIAA1219 NM_020336 human genbank 54_36p +1 validated frame_shift_del c.2432_2433 p.C811fs 1.000:1.000 NULL superfamily_Rap/Ran-GAP (Pfam 02145) (deletion:cds_exon[36601833,36602015]) no_errors FGD1 2245 genome.wustl.edu 36 X 54492335 54492354 + Frame_Shift_Del DEL GTGATAGAATTGAAGGGCTC GTGATAGAATTGAAGGGCTC - novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 GTGATAGAATTGAAGGGCTC GTGATAGAATTGAAGGGCTC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 X 54492335 54492354 GTGATAGAATTGAAGGGCTC - DEL FGD1 NM_004463 human genbank 54_36p -1 reviewed frame_shift_del c.2240_2221 p.E741fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE (deletion:cds_exon[54492301,54492426]) no_errors FAM13AOS 285512 genome.wustl.edu 36 4 89868434 89868435 + RNA DEL TG TG - novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 TG TG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 4 89868434 89868435 TG - DEL FAM13AOS NR_002806 human genbank 54_36p +1 validated rna NULL NULL 0.000:0.000 - - (deletion:rna[89868009,89870277]) no_errors STAG3 10734 genome.wustl.edu 36 7 99659775 99659780 + Frame_Shift_Del DEL TTTTTT TTTTTT - novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 TTTTTT TTTTTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 7 99659775 99659780 TTTTTT - DEL STAG3 ENST00000394018 human ensembl 54_36p +1 known frame_shift_del c.3672_3675 p.D1224fs 0.113:0.101:0.089:0.076 NULL superfamily_ARM repeat,HMMPfam_STAG (deletion:cds_exon[99659773,99659778], flank[99659779,99709778]) no_stop_codon CASP6 839 genome.wustl.edu 36 4 110835165 110835166 + Frame_Shift_Del DEL TG TG - novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 TG TG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 4 110835165 110835166 TG - DEL CASP6 NM_001226 human genbank 54_36p -1 reviewed frame_shift_del c.448_447 p.H149fs 1.000:0.995 superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14 superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS (deletion:cds_exon[110835130,110835305]) no_errors C9orf91 203197 genome.wustl.edu 36 9 116430344 116430346 + In_Frame_Del DEL AGA AGA - novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 AGA AGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 9 116430344 116430346 AGA - DEL C9orf91 NM_153045 human genbank 54_36p +1 validated in_frame_del c.467_469 p.K158in_frame_del 1.000:1.000:1.000 NULL NULL (deletion:cds_exon[116430202,116430351]) no_errors LOC100128411 0 genome.wustl.edu 36 2 128110715 128110726 + In_Frame_Del DEL CAGGGACCTGTG CAGGGACCTGTG - novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 CAGGGACCTGTG CAGGGACCTGTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 2 128110715 128110726 CAGGGACCTGTG - DEL LOC100128411 XM_001717246 human genbank 54_36p -1 model in_frame_del c.31_20 p.AQVP7in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000:0.011:0.000:0.000:0.000:0.000:0.000 NULL NULL (deletion:cds_exon[128110611,128110745]) no_errors LOC729374 729374 genome.wustl.edu 36 1 149796474 149796481 + RNA DEL AATCATCA AATCATCA - novel unknown TCGA-29-1702-01A-01W-0633-09 TCGA-29-1702-10A-01W-0633-09 AATCATCA AATCATCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx dc477882-35a0-48b5-adae-bef3daa66a7e 32415507-e658-47c9-aa9e-bc901ed7d972 1 149796474 149796481 AATCATCA - DEL LOC729374 XR_015991 human genbank 54_36p +1 model rna NULL NULL 0.034:0.023:0.010:0.007:0.005:0.009:0.013:0.033 - - (deletion:rna[149795934,149797102]) pseudogene