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 TRIB3 57761 genome.wustl.edu 36 20 324869 324869 + Silent SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 20 324869 324869 G A SNP TRIB3 NM_021158 human genbank 54_36p +1 reviewed silent c.612 p.E204 0.972 superfamily_Kinase_like superfamily_Kinase_like,HMMPfam_Pkinase - no_errors DIP2C 22982 genome.wustl.edu 36 10 405516 405516 + Silent SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 10 405516 405516 C T SNP DIP2C NM_014974 human genbank 54_36p -1 reviewed silent c.2049 p.L683 0.997 superfamily_SSF56801 PatternScan_AMP_BINDING,HMMPfam_DMAP_binding,superfamily_SSF56801,HMMPfam_AMP-binding - no_errors MUC5B 727897 genome.wustl.edu 36 11 1222214 1222214 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 11 1222214 1222214 G A SNP MUC5B NM_002458 human genbank 54_36p +1 validated missense c.7537 p.A2513T 0.000 NULL HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors,PatternScan_VWFC_1,HMMPfam_VWC,HMMSmart_SM00041,HMMPfam_Cys_knot,PatternScan_CTCK_1 - no_errors NCRNA00168 0 genome.wustl.edu 36 10 1558842 1558842 + RNA SNP G T T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 10 1558842 1558842 G T SNP NCRNA00168 NM_001098830 human genbank 54_36p +1 provisional rna NULL NULL 0.000 - - - rna_with_coding_region TMC2 117532 genome.wustl.edu 36 20 2490553 2490553 + Missense_Mutation SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 20 2490553 2490553 G C SNP TMC2 NM_080751 human genbank 54_36p +1 validated missense c.451 p.E151Q 1.000 NULL HMMPfam_TMC - no_errors SRRM2 23524 genome.wustl.edu 36 16 2757698 2757698 + Missense_Mutation SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 16 2757698 2757698 T C SNP SRRM2 NM_016333 human genbank 54_36p +1 validated missense c.7168 p.Y2390H 0.914 NULL HMMPfam_cwf21 - no_errors CSMD1 64478 genome.wustl.edu 36 8 2863406 2863406 + Missense_Mutation SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 8 2863406 2863406 C A SNP CSMD1 NM_033225 human genbank 54_36p -1 validated missense c.8033 p.G2678V 1.000 NULL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region HTT 3064 genome.wustl.edu 36 4 3206898 3206898 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 4 3206898 3206898 C T SNP HTT NM_002111 human genbank 54_36p +1 reviewed missense c.8546 p.P2849L 0.717 NULL superfamily_ARM repeat,HMMPfam_HEAT - no_errors ZNF434 54925 genome.wustl.edu 36 16 3373208 3373208 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 16 3373208 3373208 C T SNP ZNF434 NM_017810 human genbank 54_36p -1 provisional missense c.1103 p.G368E 0.000 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LOC100128423 0 genome.wustl.edu 36 11 3537624 3537624 + RNA SNP T G G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 11 3537624 3537624 T G SNP LOC100128423 XR_038258 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene LYAR 55646 genome.wustl.edu 36 4 4336347 4336347 + Silent SNP T T G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 4 4336347 4336347 T G SNP LYAR NM_017816 human genbank 54_36p -1 validated silent c.24 p.A8 0.923 NULL HMMPfam_zf-LYAR - no_errors SEC14L5 9717 genome.wustl.edu 36 16 4949297 4949297 + Missense_Mutation SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 16 4949297 4949297 G C SNP SEC14L5 ENST00000251170 human ensembl 54_36p +1 known missense c.152 p.G51A 0.001 NULL HMMPfam_PRELI,superfamily_CRAL/TRIO N-terminal domain,HMMPfam_CRAL_TRIO_N,HMMSmart_SM00516,superfamily_CRAL/TRIO domain,HMMPfam_CRAL_TRIO,superfamily_Supernatant protein factor (SPF) C-terminal domain - no_start_codon MUC16 94025 genome.wustl.edu 36 19 8927621 8927621 + Missense_Mutation SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 19 8927621 8927621 T C SNP MUC16 NM_024690 human genbank 54_36p -1 validated missense c.20825 p.K6942R 0.000 NULL PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors TAS2R1 50834 genome.wustl.edu 36 5 9682406 9682406 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 5 9682406 9682406 G T SNP TAS2R1 NM_019599 human genbank 54_36p -1 reviewed missense c.739 p.L247I 0.000 HMMPfam_TAS2R,superfamily_SSF81321 HMMPfam_TAS2R,superfamily_SSF81321 - no_errors COL5A3 50509 genome.wustl.edu 36 19 9973511 9973511 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 19 9973511 9973511 G A SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed missense c.896 p.P299L 0.000 NULL HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI - no_errors UNQ9391 203074 genome.wustl.edu 36 8 10426425 10426425 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 8 10426425 10426425 G T SNP UNQ9391 NM_198464 human genbank 54_36p +1 validated missense c.558 p.W186C 0.916 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors ODC1 4953 genome.wustl.edu 36 2 10501370 10501370 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 10501370 10501370 G A SNP ODC1 NM_002539 human genbank 54_36p -1 reviewed missense c.493 p.R165C 1.000 HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel HMMPfam_Orn_Arg_deC_N,superfamily_PLP-binding barrel,PatternScan_ODR_DC_2_1,PatternScan_ODR_DC_2_2,superfamily_Alanine racemase C-terminal domain-like,HMMPfam_Orn_DAP_Arg_deC - no_errors EMP2 2013 genome.wustl.edu 36 16 10534269 10534269 + Silent SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 16 10534269 10534269 G C SNP EMP2 NM_001424 human genbank 54_36p -1 validated silent c.498 p.R166 1.000 NULL HMMPfam_PMP22_Claudin,PatternScan_PMP22_1,PatternScan_PMP22_2 - no_errors LOC100132755 0 genome.wustl.edu 36 Y 10647825 10647825 + Missense_Mutation SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 Y 10647825 10647825 T C SNP LOC100132755 XM_001713806 human genbank 54_36p +1 model missense c.20 p.I7T 1.000 NULL NULL - no_errors CTR9 9646 genome.wustl.edu 36 11 10750656 10750656 + Missense_Mutation SNP T T G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 11 10750656 10750656 T G SNP CTR9 NM_014633 human genbank 54_36p +1 provisional missense c.2458 p.L820V 1.000 NULL superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR - no_errors TAS2R9 50835 genome.wustl.edu 36 12 10853411 10853411 + Silent SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 12 10853411 10853411 A G SNP TAS2R9 NM_023917 human genbank 54_36p -1 reviewed silent c.531 p.T177 0.003 HMMPfam_TAS2R,superfamily_SSF81321 HMMPfam_TAS2R,superfamily_SSF81321 - no_errors PHF14 9678 genome.wustl.edu 36 7 10988950 10988950 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 7 10988950 10988950 C T SNP PHF14 NM_001007157 human genbank 54_36p +1 validated missense c.539 p.P180L 1.000 NULL superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_RING - no_errors MASP2 10747 genome.wustl.edu 36 1 11029253 11029253 + Missense_Mutation SNP T T C rs72550870 unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 11029253 11029253 T C SNP MASP2 NM_006610 human genbank 54_36p -1 reviewed missense c.359 p.D120G 1.000 superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,HMMPfam_CUB superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,HMMPfam_CUB,superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_SER - no_errors EXOSC10 5394 genome.wustl.edu 36 1 11052282 11052282 + Silent SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 11052282 11052282 C T SNP EXOSC10 NM_001001998 human genbank 54_36p -1 validated silent c.2409 p.K803 0.899 NULL HMMPfam_PMC2NT,HMMPfam_3_5_exonuc,HMMSmart_SM00474,superfamily_Ribonuclease H-like,HMMSmart_SM00341,HMMPfam_HRDC - no_errors FRAP1 2475 genome.wustl.edu 36 1 11216857 11216857 + Missense_Mutation SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 11216857 11216857 G C SNP FRAP1 NM_004958 human genbank 54_36p -1 reviewed missense c.2261 p.A754G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_SSF48452,HMMPfam_FAT,HMMPfam_Rapamycin_bind,superfamily_FRAP_FKBP12_bind,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC - no_errors MCM10 55388 genome.wustl.edu 36 10 13262471 13262471 + Missense_Mutation SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 10 13262471 13262471 A G SNP MCM10 NM_182751 human genbank 54_36p +1 reviewed missense c.791 p.E264G 1.000 NULL HMMPfam_zf-primase,HMMPfam_Mcm10 - no_errors TCEANC 170082 genome.wustl.edu 36 X 13590674 13590674 + Silent SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 X 13590674 13590674 T C SNP TCEANC NM_152634 human genbank 54_36p +1 validated silent c.216 p.H72 0.348 HMMPfam_TFIIS,superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70 HMMPfam_TFIIS,superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70,superfamily_Elongation factor TFIIS domain 2,HMMSmart_SM00510,HMMPfam_TFIIS_M,superfamily_Zinc beta-ribbon - no_errors ZFYVE20 64145 genome.wustl.edu 36 3 15090829 15090829 + Missense_Mutation SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 3 15090829 15090829 C G SNP ZFYVE20 NM_022340 human genbank 54_36p -1 validated missense c.1819 p.G607R 0.008 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_FYVE,HMMPfam_FYVE,superfamily_FYVE_PHD_ZnF - no_errors IGSF21 84966 genome.wustl.edu 36 1 18564625 18564625 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 18564625 18564625 C T SNP IGSF21 NM_032880 human genbank 54_36p +1 provisional missense c.862 p.R288C 1.000 superfamily_SSF48726 superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG - no_errors PSD3 23362 genome.wustl.edu 36 8 18769748 18769748 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 8 18769748 18769748 G T SNP PSD3 NM_015310 human genbank 54_36p -1 validated missense c.1350 p.D450E 1.000 NULL HMMSmart_Sec7,HMMPfam_Sec7,superfamily_Sec7,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors HAPLN4 404037 genome.wustl.edu 36 19 19232771 19232771 + Missense_Mutation SNP T T G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 19 19232771 19232771 T G SNP HAPLN4 NM_023002 human genbank 54_36p -1 validated missense c.335 p.Y112S 0.998 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like,PatternScan_LINK_1 - no_errors LOC648980 648980 genome.wustl.edu 36 22 19383111 19383111 + Silent SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 22 19383111 19383111 G A SNP LOC648980 XM_941280 human genbank 54_36p -1 model silent c.84 p.P28 1.000 NULL HMMPfam_RhoGAP - pseudogene OR11H4 390442 genome.wustl.edu 36 14 19781740 19781740 + Missense_Mutation SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 14 19781740 19781740 G C SNP OR11H4 NM_001004479 human genbank 54_36p +1 provisional missense c.950 p.G317A 0.015 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SLCO1C1 53919 genome.wustl.edu 36 12 20761393 20761393 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 12 20761393 20761393 G A SNP SLCO1C1 NM_017435 human genbank 54_36p +1 reviewed missense c.737 p.C246Y 1.000 superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2 - no_errors EIF4G3 8672 genome.wustl.edu 36 1 21063759 21063759 + Nonsense_Mutation SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 21063759 21063759 C A SNP EIF4G3 NM_003760 human genbank 54_36p -1 validated nonsense c.2635 p.E879* 1.000 superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543 superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,superfamily_PH domain-like,HMMSmart_SM00515,HMMPfam_W2 - no_errors DNAH11 8701 genome.wustl.edu 36 7 21551275 21551275 + Missense_Mutation SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 7 21551275 21551275 T C SNP DNAH11 ENST00000328843 human ensembl 54_36p +1 known missense c.478 p.S160P 0.890 NULL HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,PatternScan_WD_REPEATS_1,HMMPfam_Dynein_heavy - no_errors JPH4 84502 genome.wustl.edu 36 14 23110421 23110421 + Silent SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 14 23110421 23110421 G A SNP JPH4 NM_032452 human genbank 54_36p -1 reviewed silent c.1359 p.P453 0.971 NULL superfamily_SSF82185,HMMSmart_MORN,HMMPfam_MORN - no_errors RP11-45B20.2 387911 genome.wustl.edu 36 13 23368988 23368988 + Silent SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 13 23368988 23368988 G A SNP RP11-45B20.2 NM_001007537 human genbank 54_36p -1 provisional silent c.138 p.D46 0.990 HMMPfam_Collagen HMMPfam_Collagen,HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q - no_errors C1QTNF9 338872 genome.wustl.edu 36 13 23788279 23788279 + Silent SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 13 23788279 23788279 C T SNP C1QTNF9 NM_178540 human genbank 54_36p +1 validated silent c.138 p.D46 1.000 HMMPfam_Collagen HMMPfam_Collagen,HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q - no_errors GALE 2582 genome.wustl.edu 36 1 23996921 23996921 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 23996921 23996921 G T SNP GALE NM_000403 human genbank 54_36p -1 reviewed missense c.379 p.L127M 0.998 superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Epimerase superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Epimerase - no_errors PHF12 57649 genome.wustl.edu 36 17 24258750 24258750 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 17 24258750 24258750 C T SNP PHF12 NM_001033561 human genbank 54_36p -1 validated missense c.2525 p.C842Y 1.000 superfamily_SMAD/FHA domain superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SMAD/FHA domain - no_errors NFE2L3 9603 genome.wustl.edu 36 7 26191218 26191218 + Missense_Mutation SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 7 26191218 26191218 C G SNP NFE2L3 NM_004289 human genbank 54_36p +1 reviewed missense c.1375 p.H459D 0.004 NULL superfamily_Euk_transcr_DNA,HMMPfam_bZIP_1,HMMSmart_BRLZ,PatternScan_BZIP_BASIC - no_errors LOC100130112 0 genome.wustl.edu 36 17 26926735 26926735 + Silent SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 17 26926735 26926735 C T SNP LOC100130112 XM_001724608 human genbank 54_36p +1 model silent c.273 p.V91 0.000 NULL NULL - no_errors AGBL5 60509 genome.wustl.edu 36 2 27146555 27146555 + Missense_Mutation SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 27146555 27146555 T C SNP AGBL5 NM_021831 human genbank 54_36p +1 validated missense c.2581 p.Y861H 1.000 NULL superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14 - no_errors SLC5A6 8884 genome.wustl.edu 36 2 27283978 27283978 + Silent SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 27283978 27283978 C T SNP SLC5A6 NM_021095 human genbank 54_36p -1 provisional silent c.45 p.S15 0.000 NULL PatternScan_NA_SOLUT_SYMP_2,HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1 - no_errors C2orf28 51374 genome.wustl.edu 36 2 27292908 27292908 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 27292908 27292908 G T SNP C2orf28 NM_080592 human genbank 54_36p +1 reviewed missense c.666 p.E222D 1.000 HMMSmart_EGF HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2 - no_errors RNF160 26046 genome.wustl.edu 36 21 29265564 29265564 + Missense_Mutation SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 21 29265564 29265564 G C SNP RNF160 NM_015565 human genbank 54_36p -1 validated missense c.884 p.S295C 1.000 superfamily_ARM repeat superfamily_ARM repeat,superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4 - no_errors ITGAL 3683 genome.wustl.edu 36 16 30436475 30436475 + Missense_Mutation SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 16 30436475 30436475 C G SNP ITGAL NM_002209 human genbank 54_36p +1 reviewed missense c.2981 p.P994R 0.429 HMMPfam_Integrin_alpha2 superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors C17orf66 256957 genome.wustl.edu 36 17 31217850 31217850 + Silent SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 17 31217850 31217850 G A SNP C17orf66 NM_152781 human genbank 54_36p -1 validated silent c.129 p.S43 0.973 NULL superfamily_ARM repeat - no_errors ZSCAN20 7579 genome.wustl.edu 36 1 33733485 33733485 + Missense_Mutation SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 33733485 33733485 A G SNP ZSCAN20 NM_145238 human genbank 54_36p +1 validated missense c.2954 p.K985R 1.000 superfamily_C2H2 and C2HC zinc fingers HMMPfam_SCAN,HMMSmart_SM00431,HMMSmart_SM00717,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ANKS1A 23294 genome.wustl.edu 36 6 35070156 35070156 + Missense_Mutation SNP T T G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 6 35070156 35070156 T G SNP ANKS1A NM_015245 human genbank 54_36p +1 validated missense c.1402 p.L468V 0.004 NULL HMMPfam_Ank,superfamily_ANK,HMMSmart_ANK,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1,superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID - no_errors TSHZ3 57616 genome.wustl.edu 36 19 36459619 36459619 + Missense_Mutation SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 19 36459619 36459619 G C SNP TSHZ3 NM_020856 human genbank 54_36p -1 validated missense c.2920 p.P974A 1.000 NULL PatternScan_HOMEOBOX_1,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox - no_errors LOC391777 391777 genome.wustl.edu 36 5 37121343 37121343 + RNA SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 5 37121343 37121343 T C SNP LOC391777 XR_016978 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene DNALI1 7802 genome.wustl.edu 36 1 37795136 37795136 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 37795136 37795136 C T SNP DNALI1 NM_003462 human genbank 54_36p +1 reviewed missense c.20 p.A7V 0.675 NULL HMMPfam_Ax_dynein_light - no_errors DISP2 85455 genome.wustl.edu 36 15 38447072 38447072 + Silent SNP G T T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 15 38447072 38447072 G T SNP DISP2 NM_033510 human genbank 54_36p +1 reviewed silent c.1467 p.T489 0.711 superfamily_SSF82866 superfamily_SSF82866 - no_errors MPP3 4356 genome.wustl.edu 36 17 39241893 39241893 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 17 39241893 39241893 G A SNP MPP3 NM_001932 human genbank 54_36p -1 reviewed missense c.1538 p.T513M 0.854 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072 HMMSmart_SM00569,HMMPfam_L27,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin - no_errors MYRIP 25924 genome.wustl.edu 36 3 39917345 39917345 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 3 39917345 39917345 G A SNP MYRIP NM_015460 human genbank 54_36p +1 validated missense c.34 p.D12N 0.965 superfamily_FYVE_PHD_ZnF superfamily_FYVE_PHD_ZnF,HMMPfam_MOBP - no_errors ELL3 80237 genome.wustl.edu 36 15 41855592 41855592 + Missense_Mutation SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 15 41855592 41855592 A G SNP ELL3 NM_025165 human genbank 54_36p -1 validated missense c.218 p.V73A 0.999 HMMPfam_ELL HMMPfam_ELL,HMMPfam_Occludin_ELL - no_errors VDAC3 7419 genome.wustl.edu 36 8 42380048 42380048 + Missense_Mutation SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 8 42380048 42380048 C A SNP VDAC3 NM_005662 human genbank 54_36p +1 validated missense c.614 p.S205Y 0.987 HMMPfam_Porin_3 HMMPfam_Porin_3,PatternScan_EUKARYOTIC_PORIN - no_errors PIAS2 9063 genome.wustl.edu 36 18 42689551 42689551 + Missense_Mutation SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 18 42689551 42689551 C A SNP PIAS2 NM_004671 human genbank 54_36p -1 validated missense c.610 p.D204Y 1.000 NULL HMMPfam_SAP,HMMSmart_SM00513,superfamily_RING/U-box,HMMPfam_zf-MIZ - no_errors C5orf28 64417 genome.wustl.edu 36 5 43489557 43489557 + Missense_Mutation SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 5 43489557 43489557 T C SNP C5orf28 NM_022483 human genbank 54_36p -1 validated missense c.272 p.D91G 1.000 NULL NULL - no_errors CELSR1 9620 genome.wustl.edu 36 22 45171287 45171287 + Missense_Mutation SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 22 45171287 45171287 C G SNP CELSR1 NM_014246 human genbank 54_36p -1 reviewed missense c.5722 p.V1908L 0.948 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_2 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2 - no_errors NASP 4678 genome.wustl.edu 36 1 45855768 45855768 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 45855768 45855768 C T SNP NASP NM_172164 human genbank 54_36p +1 reviewed missense c.2210 p.A737V 1.000 NULL HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,HMMPfam_SHNi-TPR - no_errors IPP 3652 genome.wustl.edu 36 1 45984642 45984642 + Missense_Mutation SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 45984642 45984642 G C SNP IPP NM_005897 human genbank 54_36p -1 reviewed missense c.29 p.A10G 0.003 NULL superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612 - no_errors C18orf24 220134 genome.wustl.edu 36 18 46156252 46156252 + Silent SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 18 46156252 46156252 C T SNP C18orf24 NM_001039535 human genbank 54_36p +1 validated silent c.54 p.G18 0.386 HMMPfam_DUF1395 HMMPfam_DUF1395 - no_errors MAST2 23139 genome.wustl.edu 36 1 46262049 46262049 + Silent SNP G T T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 46262049 46262049 G T SNP MAST2 NM_015112 human genbank 54_36p +1 validated silent c.1590 p.R530 0.998 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase HMMPfam_DUF1908,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ - no_errors HTR2A 3356 genome.wustl.edu 36 13 46307024 46307024 + Missense_Mutation SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 13 46307024 46307024 C G SNP HTR2A NM_000621 human genbank 54_36p -1 validated missense c.1365 p.E455D 0.000 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors AXL 558 genome.wustl.edu 36 19 46441421 46441421 + Missense_Mutation SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 19 46441421 46441421 G C SNP AXL NM_021913 human genbank 54_36p +1 reviewed missense c.1506 p.K502N 0.998 NULL HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors RAD54L 8438 genome.wustl.edu 36 1 46499558 46499558 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 46499558 46499558 C T SNP RAD54L NM_003579 human genbank 54_36p +1 reviewed missense c.805 p.P269S 1.000 HMMSmart_DEXDc,superfamily_SSF52540,HMMPfam_SNF2_N HMMSmart_DEXDc,superfamily_SSF52540,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C - no_errors RB1 5925 genome.wustl.edu 36 13 47925157 47925157 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 13 47925157 47925157 C T SNP RB1 NM_000321 human genbank 54_36p +1 reviewed nonsense c.1723 p.Q575* 1.000 superfamily_Cyclin-like HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385,HMMPfam_Rb_C - no_errors HUS1 3364 genome.wustl.edu 36 7 47984641 47984641 + Silent SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 7 47984641 47984641 C T SNP HUS1 NM_004507 human genbank 54_36p -1 reviewed silent c.255 p.S85 0.857 HMMPfam_Hus1 HMMPfam_Hus1 - no_errors C6orf138 442213 genome.wustl.edu 36 6 48144152 48144152 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 6 48144152 48144152 C T SNP C6orf138 NM_001013732 human genbank 54_36p -1 validated missense c.148 p.E50K 1.000 HMMPfam_Patched HMMPfam_Patched,superfamily_SSF82866 - no_errors EBP 10682 genome.wustl.edu 36 X 48267233 48267233 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 X 48267233 48267233 G A SNP EBP NM_006579 human genbank 54_36p +1 reviewed missense c.130 p.V44M 0.538 HMMPfam_EBP HMMPfam_EBP - no_errors AP4E1 23431 genome.wustl.edu 36 15 49021199 49021199 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 15 49021199 49021199 G T SNP AP4E1 NM_007347 human genbank 54_36p +1 validated missense c.1111 p.A371S 1.000 superfamily_ARM-type_fold,HMMPfam_Adaptin_N superfamily_ARM-type_fold,HMMPfam_Adaptin_N,HMMPfam_Coatamer_beta_C - no_errors MIOX 55586 genome.wustl.edu 36 22 49273317 49273317 + Missense_Mutation SNP G A A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 22 49273317 49273317 G A SNP MIOX NM_017584 human genbank 54_36p +1 validated missense c.314 p.G105D 1.000 HMMPfam_DUF706 HMMPfam_DUF706 - no_errors ZNF233 353355 genome.wustl.edu 36 19 49470523 49470523 + Missense_Mutation SNP A A T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 19 49470523 49470523 A T SNP ZNF233 NM_181756 human genbank 54_36p +1 provisional missense c.1870 p.M624L 0.000 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,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LOC728522 728522 genome.wustl.edu 36 12 50393180 50393180 + RNA SNP C G G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 12 50393180 50393180 C G SNP LOC728522 XR_015716 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene AGAP7 0 genome.wustl.edu 36 10 51153202 51153202 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 10 51153202 51153202 G T SNP AGAP7 NM_001077685 human genbank 54_36p -1 provisional missense c.270 p.F90L 0.996 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_ArfGAP,HMMPfam_ArfGap,HMMSmart_ArfGap,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors CSAD 51380 genome.wustl.edu 36 12 51840304 51840304 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 12 51840304 51840304 C T SNP CSAD NM_015989 human genbank 54_36p -1 validated missense c.1033 p.V345M 0.142 superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC - no_errors EHD2 30846 genome.wustl.edu 36 19 52920913 52920913 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 19 52920913 52920913 G T SNP EHD2 NM_014601 human genbank 54_36p +1 reviewed missense c.535 p.A179S 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,superfamily_EF-hand,HMMSmart_SM00027,PatternScan_EF_HAND_1 - no_errors HUWE1 10075 genome.wustl.edu 36 X 53638915 53638915 + Silent SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 X 53638915 53638915 A G SNP HUWE1 NM_031407 human genbank 54_36p -1 validated silent c.3337 p.L1113 1.000 NULL HMMPfam_DUF908,superfamily_ARM repeat,HMMPfam_DUF913,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,HMMPfam_WWE,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors TRPM4 54795 genome.wustl.edu 36 19 54377857 54377857 + Missense_Mutation SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 19 54377857 54377857 A G SNP TRPM4 NM_017636 human genbank 54_36p +1 provisional missense c.1474 p.K492E 0.006 NULL HMMPfam_Ion_trans - no_errors ENSG00000166007 0 genome.wustl.edu 36 11 54816310 54816310 + Missense_Mutation SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 11 54816310 54816310 G C SNP ENSG00000166007 ENST00000309470 human ensembl 54_36p -1 known missense c.1179 p.H393Q 0.001 HMMPfam_SPRY superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,HMMPfam_zf-B_box,HMMPfam_SPRY - no_start_codon:no_stop_codon OR4A15 81328 genome.wustl.edu 36 11 54892429 54892429 + Missense_Mutation SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 11 54892429 54892429 A G SNP OR4A15 NM_001005275 human genbank 54_36p +1 provisional missense c.494 p.N165S 0.203 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors STX16 8675 genome.wustl.edu 36 20 56676461 56676461 + Missense_Mutation SNP G A A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 20 56676461 56676461 G A SNP STX16 NM_001001433 human genbank 54_36p +1 reviewed missense c.265 p.V89I 0.999 superfamily_t-snare proteins,HMMPfam_Syntaxin superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN - no_errors PRG2 5553 genome.wustl.edu 36 11 56913204 56913204 + Missense_Mutation SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 11 56913204 56913204 A G SNP PRG2 NM_002728 human genbank 54_36p -1 reviewed missense c.221 p.V74A 0.000 NULL HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors SLC43A3 29015 genome.wustl.edu 36 11 56939132 56939132 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 11 56939132 56939132 G A SNP SLC43A3 NM_014096 human genbank 54_36p -1 validated nonsense c.793 p.Q265* 0.280 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter - no_errors ZNF766 90321 genome.wustl.edu 36 19 57477241 57477241 + Silent SNP T T A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 19 57477241 57477241 T A SNP ZNF766 NM_001010851 human genbank 54_36p +1 validated silent c.84 p.P28 0.705 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors MRC2 9902 genome.wustl.edu 36 17 58121791 58121791 + Missense_Mutation SNP C A A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 17 58121791 58121791 C A SNP MRC2 NM_006039 human genbank 54_36p +1 validated missense c.3949 p.H1317N 1.000 superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,PatternScan_LIPOCALIN - no_errors LILRB2 10288 genome.wustl.edu 36 19 59474707 59474707 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 19 59474707 59474707 G A SNP LILRB2 NM_005874 human genbank 54_36p -1 reviewed missense c.727 p.L243F 0.450 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors SERPINB3 6317 genome.wustl.edu 36 18 59475201 59475201 + Splice_Site SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 18 59475201 59475201 C A SNP SERPINB3 NM_006919 human genbank 54_36p -1 validated splice_site c.613-1 e6-1 0.717 - - - no_errors SERPINB2 5055 genome.wustl.edu 36 18 59720095 59720095 + Missense_Mutation SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 18 59720095 59720095 C G SNP SERPINB2 NM_002575 human genbank 54_36p +1 validated missense c.677 p.S226W 0.667 HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN - no_errors CDH8 1006 genome.wustl.edu 36 16 60612573 60612573 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 16 60612573 60612573 G A SNP CDH8 NM_001796 human genbank 54_36p -1 reviewed missense c.236 p.P79L 1.000 superfamily_Cadherin,HMMPfam_Cadherin superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors DAGLA 747 genome.wustl.edu 36 11 61267622 61267622 + Silent SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 11 61267622 61267622 G A SNP DAGLA NM_006133 human genbank 54_36p +1 validated silent c.2214 p.E738 0.997 NULL superfamily_SSF53474,HMMPfam_Lipase_3,PatternScan_LIPASE_SER - no_errors ZNF773 374928 genome.wustl.edu 36 19 62707919 62707919 + Missense_Mutation SNP T C C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 19 62707919 62707919 T C SNP ZNF773 NM_198542 human genbank 54_36p +1 provisional missense c.116 p.L39P 0.261 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349 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 - no_errors SYNE2 23224 genome.wustl.edu 36 14 63701868 63701868 + Missense_Mutation SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 14 63701868 63701868 C A SNP SYNE2 NM_182914 human genbank 54_36p +1 validated missense c.16592 p.P5531H 0.755 NULL superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH - no_errors LOC283867 283867 genome.wustl.edu 36 16 63902858 63902858 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 16 63902858 63902858 C T SNP LOC283867 NM_001101346 human genbank 54_36p -1 inferred missense c.220 p.E74K 0.000 NULL NULL - no_errors NRBF2 29982 genome.wustl.edu 36 10 64583845 64583845 + Missense_Mutation SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 10 64583845 64583845 C A SNP NRBF2 NM_030759 human genbank 54_36p +1 validated missense c.725 p.T242N 0.499 HMMPfam_DUF1875 HMMPfam_DUF1875 - no_errors CD248 57124 genome.wustl.edu 36 11 65839717 65839717 + Missense_Mutation SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 11 65839717 65839717 A G SNP CD248 NM_020404 human genbank 54_36p -1 validated missense c.1358 p.V453A 0.000 NULL superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,HMMSmart_SM00179,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL - no_errors TRIM55 84675 genome.wustl.edu 36 8 67203193 67203193 + Missense_Mutation SNP A A C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 8 67203193 67203193 A C SNP TRIM55 NM_184085 human genbank 54_36p +1 reviewed missense c.269 p.H90P 1.000 superfamily_RING/U-box superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336 - no_errors SDK2 54549 genome.wustl.edu 36 17 68895746 68895746 + Silent SNP C T T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 17 68895746 68895746 C T SNP SDK2 ENST00000334543 human ensembl 54_36p -1 known silent c.3255 p.P1085 0.058 superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_errors MARVELD3 91862 genome.wustl.edu 36 16 70232337 70232337 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 16 70232337 70232337 G A SNP MARVELD3 NM_001017967 human genbank 54_36p +1 validated missense c.1139 p.R380H 0.976 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors NLGN3 54413 genome.wustl.edu 36 X 70303979 70303979 + Missense_Mutation SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 X 70303979 70303979 T C SNP NLGN3 NM_018977 human genbank 54_36p +1 validated missense c.1247 p.F416S 1.000 HMMPfam_COesterase,superfamily_SSF53474 HMMPfam_COesterase,superfamily_SSF53474,PatternScan_CARBOXYLESTERASE_B_2 - no_errors COL9A1 1297 genome.wustl.edu 36 6 71068427 71068427 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 6 71068427 71068427 G T SNP COL9A1 NM_001851 human genbank 54_36p -1 reviewed missense c.86 p.P29H 0.996 NULL HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Collagen - no_errors SIPA1L1 26037 genome.wustl.edu 36 14 71208068 71208068 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 14 71208068 71208068 C T SNP SIPA1L1 NM_015556 human genbank 54_36p +1 provisional missense c.2735 p.T912I 1.000 NULL superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors NCOA2 10499 genome.wustl.edu 36 8 71231824 71231824 + Missense_Mutation SNP A A T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 8 71231824 71231824 A T SNP NCOA2 NM_006540 human genbank 54_36p -1 validated missense c.1330 p.S444T 1.000 NULL superfamily_HLH_basic,HMMSmart_HLH,HMMPfam_PAS,HMMSmart_PAS,superfamily_SSF55785,HMMSmart_PAC,HMMPfam_SRC-1,superfamily_Nuc_recept_coact,HMMPfam_Nuc_rec_co-act,HMMPfam_DUF1518 - no_errors RNF121 55298 genome.wustl.edu 36 11 71371604 71371604 + Silent SNP C G G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 11 71371604 71371604 C G SNP RNF121 NM_018320 human genbank 54_36p +1 reviewed silent c.393 p.T131 0.788 NULL PatternScan_ZF_RING_1,superfamily_SSF57850,HMMSmart_RING - no_errors RLIM 51132 genome.wustl.edu 36 X 73732511 73732511 + Silent SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 X 73732511 73732511 T C SNP RLIM NM_016120 human genbank 54_36p -1 reviewed silent c.27 p.K9 1.000 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors YLPM1 56252 genome.wustl.edu 36 14 74357587 74357587 + Silent SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 14 74357587 74357587 C T SNP YLPM1 NM_019589 human genbank 54_36p +1 validated silent c.6105 p.S2035 1.000 NULL HMMPfam_YLP,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors IL8 3576 genome.wustl.edu 36 4 74826174 74826174 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 4 74826174 74826174 C T SNP IL8 NM_000584 human genbank 54_36p +1 reviewed missense c.116 p.T39I 0.245 HMMPfam_IL8,superfamily_Interleukin 8-like chemokines,HMMSmart_SM00199,PatternScan_SMALL_CYTOKINES_CXC HMMPfam_IL8,superfamily_Interleukin 8-like chemokines,HMMSmart_SM00199,PatternScan_SMALL_CYTOKINES_CXC - no_errors HIP1 3092 genome.wustl.edu 36 7 75030470 75030470 + Silent SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 7 75030470 75030470 C T SNP HIP1 NM_005338 human genbank 54_36p -1 reviewed silent c.837 p.L279 0.854 HMMPfam_ANTH,superfamily_ARM repeat HMMPfam_ANTH,superfamily_ENTH/VHS domain,HMMSmart_SM00273,superfamily_ARM repeat,superfamily_I/LWEQ domain (Pfam 01608),HMMSmart_SM00307,HMMPfam_I_LWEQ - no_errors NDST2 8509 genome.wustl.edu 36 10 75235519 75235519 + Missense_Mutation SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 10 75235519 75235519 C A SNP NDST2 NM_003635 human genbank 54_36p -1 reviewed missense c.1578 p.M526I 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1 - no_errors LOC401074 401074 genome.wustl.edu 36 3 75802771 75802771 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 3 75802771 75802771 C T SNP LOC401074 XM_001714392 human genbank 54_36p +1 model missense c.56 p.T19M 0.000 NULL NULL - no_errors SH2D7 0 genome.wustl.edu 36 15 76180473 76180473 + Missense_Mutation SNP T T A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 15 76180473 76180473 T A SNP SH2D7 NM_001101404 human genbank 54_36p +1 provisional missense c.823 p.S275T 0.027 NULL HMMSmart_SH2,superfamily_SSF55550,HMMPfam_SH2 - no_errors RASGRF1 5923 genome.wustl.edu 36 15 77077591 77077591 + Missense_Mutation SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 15 77077591 77077591 G C SNP RASGRF1 NM_002891 human genbank 54_36p -1 reviewed missense c.2916 p.N972K 0.217 superfamily_Ras GEF,HMMPfam_RasGEF_N,HMMSmart_SM00229 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF - no_errors BRWD3 254065 genome.wustl.edu 36 X 79833976 79833976 + Splice_Site SNP A A T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 X 79833976 79833976 A T SNP BRWD3 NM_153252 human genbank 54_36p -1 validated splice_site c.3481+2 e30+2 1.000 - - - no_errors PPFIA2 8499 genome.wustl.edu 36 12 80243700 80243700 + Nonsense_Mutation SNP T T A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 12 80243700 80243700 T A SNP PPFIA2 NM_003625 human genbank 54_36p -1 reviewed nonsense c.2629 p.R877* 0.998 NULL superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2 - no_errors ACOT12 134526 genome.wustl.edu 36 5 80695399 80695399 + Silent SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 5 80695399 80695399 G A SNP ACOT12 NM_130767 human genbank 54_36p -1 validated silent c.324 p.F108 1.000 superfamily_Thioesterase/thiol ester dehydrase-isomerase superfamily_Thioesterase/thiol ester dehydrase-isomerase,HMMPfam_4HBT,superfamily_Bet v1-like,HMMPfam_START - no_errors HDX 139324 genome.wustl.edu 36 X 83610555 83610555 + Silent SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 X 83610555 83610555 G A SNP HDX NM_144657 human genbank 54_36p -1 provisional silent c.832 p.L278 1.000 NULL HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox - no_errors WDR63 126820 genome.wustl.edu 36 1 85334223 85334223 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 85334223 85334223 G A SNP WDR63 NM_145172 human genbank 54_36p +1 validated missense c.1195 p.D399N 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors ENSG00000211623 0 genome.wustl.edu 36 2 89662590 89662590 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 89662590 89662590 G T SNP ENSG00000211623 ENST00000390268 human ensembl 54_36p +1 known missense c.137 p.S46I 0.834 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv - no_stop_codon:bad_bp_length_for_coding_region TIGD2 166815 genome.wustl.edu 36 4 90254355 90254355 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 4 90254355 90254355 G A SNP TIGD2 NM_145715 human genbank 54_36p +1 reviewed missense c.1207 p.G403R 1.000 NULL HMMPfam_CENP-B_N,superfamily_Homeodomain_like,HMMPfam_CenpB-DNA-bind,HMMSmart_CENPB,HMMPfam_DDE - no_errors LOC100132116 0 genome.wustl.edu 36 10 90684641 90684641 + Missense_Mutation SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 10 90684641 90684641 A G SNP LOC100132116 XM_001724437 human genbank 54_36p +1 model missense c.376 p.S126G 0.001 NULL NULL - no_errors ALG2 85365 genome.wustl.edu 36 9 101020155 101020155 + Missense_Mutation SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 9 101020155 101020155 C G SNP ALG2 NM_033087 human genbank 54_36p -1 reviewed missense c.1133 p.R378P 0.067 superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_Glycos_transf_1 superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_Glycos_transf_1 - no_errors C9orf30 91283 genome.wustl.edu 36 9 102252866 102252866 + Missense_Mutation SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 9 102252866 102252866 C A SNP C9orf30 NM_080655 human genbank 54_36p +1 predicted missense c.625 p.Q209K 1.000 NULL NULL - no_errors SORCS3 22986 genome.wustl.edu 36 10 106665583 106665583 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 10 106665583 106665583 C T SNP SORCS3 NM_014978 human genbank 54_36p +1 reviewed missense c.698 p.S233L 1.000 superfamily_SSF110296,HMMSmart_VPS10 superfamily_SSF110296,HMMSmart_VPS10,HMMPfam_PKD,superfamily_PKD - no_errors SLC44A1 23446 genome.wustl.edu 36 9 107167671 107167671 + Missense_Mutation SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 9 107167671 107167671 C G SNP SLC44A1 NM_080546 human genbank 54_36p +1 validated missense c.1340 p.S447C 1.000 HMMPfam_DUF580 HMMPfam_DUF580 - no_errors TMEM119 338773 genome.wustl.edu 36 12 107510098 107510098 + Missense_Mutation SNP G A A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 12 107510098 107510098 G A SNP TMEM119 NM_181724 human genbank 54_36p -1 validated missense c.191 p.P64L 0.998 NULL NULL - no_errors RANBP2 5903 genome.wustl.edu 36 2 108736359 108736359 + Missense_Mutation SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 108736359 108736359 G C SNP RANBP2 NM_006267 human genbank 54_36p +1 reviewed missense c.1963 p.A655P 1.000 NULL superfamily_SSF48452,HMMPfam_TPR_1,superfamily_SSF50729,HMMSmart_RanBD,HMMPfam_Ran_BP1,HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ,PatternScan_ZF_RANBP2_1,superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1 - no_errors RGAG1 57529 genome.wustl.edu 36 X 109583200 109583200 + Missense_Mutation SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 X 109583200 109583200 C A SNP RGAG1 NM_020769 human genbank 54_36p +1 provisional missense c.2699 p.P900Q 0.049 NULL HMMPfam_Retrotrans_gag - no_errors KCNC4 3749 genome.wustl.edu 36 1 110567907 110567907 + Missense_Mutation SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 110567907 110567907 A G SNP KCNC4 NM_004978 human genbank 54_36p +1 reviewed missense c.1477 p.K493E 1.000 superfamily_Voltage-gated potassium channels superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors KCNV1 27012 genome.wustl.edu 36 8 111054028 111054028 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 8 111054028 111054028 G A SNP KCNV1 NM_014379 human genbank 54_36p -1 reviewed missense c.626 p.A209V 1.000 superfamily_Voltage-gated potassium channels superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors XPNPEP1 7511 genome.wustl.edu 36 10 111615023 111615023 + Missense_Mutation SNP T T G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 10 111615023 111615023 T G SNP XPNPEP1 NM_020383 human genbank 54_36p -1 provisional missense c.1781 p.D594A 0.995 NULL HMMPfam_Creatinase_N,superfamily_Creatinase/aminopeptidase,HMMPfam_Peptidase_M24,PatternScan_PROLINE_PEPTIDASE - no_errors OAS3 4940 genome.wustl.edu 36 12 111868937 111868937 + Missense_Mutation SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 12 111868937 111868937 C G SNP OAS3 NM_006187 human genbank 54_36p +1 reviewed missense c.643 p.L215V 0.001 HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain,PatternScan_25A_SYNTH_2,HMMPfam_NTP_transf_2 - no_errors APC 324 genome.wustl.edu 36 5 112202368 112202368 + Missense_Mutation SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 5 112202368 112202368 A G SNP APC NM_000038 human genbank 54_36p +1 reviewed missense c.3178 p.I1060V 1.000 NULL superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding - no_errors CDC16 8881 genome.wustl.edu 36 13 114029588 114029588 + Missense_Mutation SNP C G G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 13 114029588 114029588 C G SNP CDC16 NM_001078645 human genbank 54_36p +1 reviewed missense c.859 p.L287V 1.000 superfamily_TPR-like superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028 - no_errors HABP2 3026 genome.wustl.edu 36 10 115333106 115333106 + Silent SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 10 115333106 115333106 T C SNP HABP2 NM_004132 human genbank 54_36p +1 reviewed silent c.1236 p.I412 0.966 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors CXCR5 643 genome.wustl.edu 36 11 118270072 118270072 + Silent SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 11 118270072 118270072 C G SNP CXCR5 NM_032966 human genbank 54_36p +1 reviewed silent c.474 p.T158 0.003 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors WDR3 10885 genome.wustl.edu 36 1 118285959 118285959 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 118285959 118285959 G A SNP WDR3 NM_006784 human genbank 54_36p +1 reviewed missense c.955 p.D319N 1.000 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_Utp12 - no_errors ADAM30 11085 genome.wustl.edu 36 1 120239303 120239303 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 120239303 120239303 C T SNP ADAM30 NM_021794 human genbank 54_36p -1 reviewed missense c.1180 p.G394R 0.373 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,PatternScan_EGF_2" - no_errors CD80 941 genome.wustl.edu 36 3 120738761 120738761 + Missense_Mutation SNP C A A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 3 120738761 120738761 C A SNP CD80 NM_005191 human genbank 54_36p -1 validated missense c.613 p.D205Y 0.763 superfamily_Immunoglobulin,HMMPfam_C2-set_2 HMMSmart_SM00409,superfamily_Immunoglobulin,HMMPfam_V-set,HMMPfam_C2-set_2 - no_errors DNAH10 196385 genome.wustl.edu 36 12 122943900 122943900 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 12 122943900 122943900 G A SNP DNAH10 ENST00000409039 human ensembl 54_36p +1 known missense c.8809 p.G2937R 1.000 NULL HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors KIAA1109 84162 genome.wustl.edu 36 4 123445403 123445403 + Missense_Mutation SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 4 123445403 123445403 G C SNP KIAA1109 NM_015312 human genbank 54_36p +1 validated missense c.9487 p.G3163R 1.000 NULL PatternScan_ASP_PROTEASE,HMMPfam_FSA_C - no_errors SEMA5B 54437 genome.wustl.edu 36 3 124123921 124123921 + Nonsense_Mutation SNP G A A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 3 124123921 124123921 G A SNP SEMA5B NM_001031702 human genbank 54_36p -1 validated nonsense c.1336 p.Q446* 1.000 superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630 superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 - no_errors WDR40C 340578 genome.wustl.edu 36 X 125127268 125127268 + Silent SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 X 125127268 125127268 G A SNP WDR40C NM_001013628 human genbank 54_36p -1 provisional silent c.321 p.N107 1.000 superfamily_WD40_like PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 - no_errors PLXNA4 91584 genome.wustl.edu 36 7 131561470 131561470 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 7 131561470 131561470 C T SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated missense c.1972 p.V658I 1.000 HMMPfam_PSI,HMMSmart_SM00423 superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP - no_errors EBF3 253738 genome.wustl.edu 36 10 131651251 131651251 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 10 131651251 131651251 G T SNP EBF3 NM_001005463 human genbank 54_36p -1 validated missense c.300 p.N100K 1.000 NULL PatternScan_COE,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG - no_errors OC90 729330 genome.wustl.edu 36 8 133123109 133123109 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 8 133123109 133123109 G T SNP OC90 NM_001080399 human genbank 54_36p -1 validated missense c.141 p.F47L 1.000 NULL HMMSmart_SM00085,superfamily_Phospholipase A2 PLA2,HMMPfam_Phospholip_A2_1,PatternScan_PA2_HIS,PatternScan_PA2_ASP - no_errors ANKRD34A 284615 genome.wustl.edu 36 1 144185390 144185390 + Silent SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 144185390 144185390 A G SNP ANKRD34A NM_001039888 human genbank 54_36p +1 validated silent c.705 p.P235 0.825 NULL HMMSmart_SM00248,HMMPfam_Ank,superfamily_Ankyrin repeat - no_errors ZNF827 152485 genome.wustl.edu 36 4 147078987 147078987 + Missense_Mutation SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 4 147078987 147078987 T C SNP ZNF827 NM_178835 human genbank 54_36p -1 validated missense c.23 p.Q8R 1.000 NULL superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors PRPF3 9129 genome.wustl.edu 36 1 148583561 148583561 + Silent SNP A A T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 148583561 148583561 A T SNP PRPF3 NM_004698 human genbank 54_36p +1 reviewed silent c.1554 p.R518 0.999 HMMPfam_PRP3 superfamily_PWI domain,HMMSmart_SM00311,HMMPfam_PWI,HMMPfam_PRP3 - no_errors PDE6A 5145 genome.wustl.edu 36 5 149225928 149225928 + Missense_Mutation SNP T C C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 5 149225928 149225928 T C SNP PDE6A NM_000440 human genbank 54_36p -1 reviewed missense c.2356 p.K786E 1.000 superfamily_SSF109604,HMMPfam_PDEase_I superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors PI4KB 5298 genome.wustl.edu 36 1 149555505 149555505 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 149555505 149555505 C T SNP PI4KB NM_002651 human genbank 54_36p -1 provisional missense c.113 p.G38E 0.986 NULL superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2 - no_errors RPTN 126638 genome.wustl.edu 36 1 150395543 150395543 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 150395543 150395543 G T SNP RPTN ENST00000316073 human ensembl 54_36p -1 known missense c.656 p.A219D 0.000 NULL superfamily_EF-hand,HMMPfam_S_100,HMMPfam_efhand,PatternScan_S100_CABP,PatternScan_EF_HAND_1 - no_errors FLG 2312 genome.wustl.edu 36 1 150550370 150550370 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 150550370 150550370 C T SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.3616 p.A1206T 0.001 NULL superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin - no_errors MLL3 58508 genome.wustl.edu 36 7 151491133 151491133 + Missense_Mutation SNP T T A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 7 151491133 151491133 T A SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed missense c.10462 p.I3488L 0.140 NULL PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,HMMSmart_SM00184,PatternScan_ZF_PHD_1,PatternScan_ATPASE_ALPHA_BETA,HMMSmart_SM00398,HMMPfam_HMG_box,HMMPfam_FYRN,HMMSmart_SM00541,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors SYNE1 23345 genome.wustl.edu 36 6 152868068 152868068 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 6 152868068 152868068 C T SNP SYNE1 NM_182961 human genbank 54_36p -1 reviewed missense c.739 p.E247K 0.984 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,HMMPfam_KASH - no_errors OR6N1 128372 genome.wustl.edu 36 1 157002983 157002983 + Silent SNP A A G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 157002983 157002983 A G SNP OR6N1 NM_001005185 human genbank 54_36p -1 provisional silent c.114 p.T38 0.000 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors NR1I3 9970 genome.wustl.edu 36 1 159466340 159466340 + Silent SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 159466340 159466340 C A SNP NR1I3 NM_001077482 human genbank 54_36p -1 reviewed silent c.945 p.R315 1.000 superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep - no_errors HMMR 3161 genome.wustl.edu 36 5 162842858 162842858 + Silent SNP T T A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 5 162842858 162842858 T A SNP HMMR NM_012484 human genbank 54_36p +1 reviewed silent c.1689 p.A563 0.913 NULL NULL - no_errors SCN3A 6328 genome.wustl.edu 36 2 165692584 165692584 + Missense_Mutation SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 165692584 165692584 C G SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed missense c.3196 p.D1066H 1.000 HMMPfam_Na_trans_assoc superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ - no_errors TTC21B 79809 genome.wustl.edu 36 2 166507974 166507974 + Splice_Site SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 166507974 166507974 C A SNP TTC21B NM_024753 human genbank 54_36p -1 validated splice_site c.552+1 e5+1 1.000 - - - no_errors DNM3 26052 genome.wustl.edu 36 1 170268980 170268980 + Missense_Mutation SNP T T G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 170268980 170268980 T G SNP DNM3 NM_015569 human genbank 54_36p +1 validated missense c.801 p.H267Q 1.000 superfamily_SSF52540,HMMPfam_Dynamin_M HMMSmart_DYNc,superfamily_SSF52540,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_GED,HMMSmart_GED - no_errors GORASP2 26003 genome.wustl.edu 36 2 171519405 171519405 + Splice_Site SNP G G C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 171519405 171519405 G C SNP GORASP2 NM_015530 human genbank 54_36p +1 reviewed splice_site c.567-1 e6-1 1.000 - - - no_errors GPRIN1 114787 genome.wustl.edu 36 5 175959148 175959148 + Silent SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 5 175959148 175959148 G A SNP GPRIN1 NM_052899 human genbank 54_36p -1 validated silent c.294 p.C98 0.034 NULL NULL - no_errors TSPAN17 26262 genome.wustl.edu 36 5 176016486 176016486 + Silent SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 5 176016486 176016486 G A SNP TSPAN17 ENST00000298564 human ensembl 54_36p +1 known silent c.486 p.L162 0.139 NULL HMMPfam_Tetraspannin - no_errors NSD1 64324 genome.wustl.edu 36 5 176648424 176648424 + Splice_Site SNP A A C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 5 176648424 176648424 A C SNP NSD1 NM_022455 human genbank 54_36p +1 reviewed splice_site c.6152-2 e20-2 1.000 - - - no_errors DBN1 1627 genome.wustl.edu 36 5 176831752 176831752 + Silent SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 5 176831752 176831752 G A SNP DBN1 NM_080881 human genbank 54_36p -1 reviewed silent c.66 p.R22 0.797 HMMSmart_ADF,HMMPfam_Cofilin_ADF HMMSmart_ADF,HMMPfam_Cofilin_ADF,superfamily_SSF55753 - no_errors COL23A1 91522 genome.wustl.edu 36 5 177614610 177614610 + Missense_Mutation SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 5 177614610 177614610 C A SNP COL23A1 NM_173465 human genbank 54_36p -1 validated missense c.906 p.E302D 0.997 HMMPfam_Collagen HMMPfam_Collagen - no_errors NR5A2 2494 genome.wustl.edu 36 1 198284074 198284074 + Silent SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 198284074 198284074 T C SNP NR5A2 NM_205860 human genbank 54_36p +1 validated silent c.615 p.S205 0.962 superfamily_Nuclear receptor ligand-binding domain HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep - no_errors KIF21B 23046 genome.wustl.edu 36 1 199216743 199216743 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 199216743 199216743 G A SNP KIF21B NM_017596 human genbank 54_36p -1 provisional missense c.3908 p.A1303V 1.000 superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 HMMSmart_KISc,superfamily_SSF52540,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40_like,superfamily_Prefoldin,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors SATB2 23314 genome.wustl.edu 36 2 199845564 199845564 + Missense_Mutation SNP G G A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 199845564 199845564 G A SNP SATB2 NM_015265 human genbank 54_36p -1 validated missense c.1817 p.P606L 0.942 NULL HMMPfam_CUT,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox - no_errors AOX1 316 genome.wustl.edu 36 2 201200367 201200367 + Missense_Mutation SNP A A T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 201200367 201200367 A T SNP AOX1 NM_001159 human genbank 54_36p +1 reviewed missense c.2171 p.E724V 0.998 superfamily_Molybdenum cofactor-binding domain,HMMPfam_Ald_Xan_dh_C2 superfamily_2Fe-2S ferredoxin-like,HMMPfam_Fer2,PatternScan_2FE2S_FER_1,HMMPfam_Fer2_2,superfamily_CO dehydrogenase ISP C-domain like,superfamily_FAD-binding domain,HMMPfam_FAD_binding_5,superfamily_CO dehydrogenase flavoprotein C-terminal domain-like,HMMPfam_CO_deh_flav_C,superfamily_CO dehydrogenase molybdoprotein N-domain-like,HMMPfam_Ald_Xan_dh_C,superfamily_Molybdenum cofactor-binding domain,HMMPfam_Ald_Xan_dh_C2,PatternScan_MOLYBDOPTERIN_EUK - no_errors CYP20A1 57404 genome.wustl.edu 36 2 203812052 203812052 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 203812052 203812052 G T SNP CYP20A1 NM_177538 human genbank 54_36p +1 reviewed missense c.22 p.A8S 1.000 NULL superfamily_Cytochrome_P450,HMMPfam_p450 - no_errors FCAMR 83953 genome.wustl.edu 36 1 205199661 205199661 + Nonsense_Mutation SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 205199661 205199661 C A SNP FCAMR ENST00000400962 human ensembl 54_36p -1 known nonsense c.757 p.G253* 0.000 NULL HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409 - no_errors LOC643454 643454 genome.wustl.edu 36 1 212722979 212722979 + RNA SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 212722979 212722979 C G SNP LOC643454 XR_042294 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene USP37 57695 genome.wustl.edu 36 2 219027910 219027910 + Missense_Mutation SNP C C T rs61752208 unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 219027910 219027910 C T SNP USP37 NM_020935 human genbank 54_36p -1 validated missense c.2927 p.R976H 0.004 NULL superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,HMMSmart_SM00726,HMMPfam_UIM,PatternScan_UCH_2_2 - no_errors DOCK10 55619 genome.wustl.edu 36 2 225343266 225343266 + Missense_Mutation SNP C C T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 225343266 225343266 C T SNP DOCK10 NM_014689 human genbank 54_36p -1 validated missense c.6350 p.R2117H 1.000 HMMPfam_Ded_cyto superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto - no_errors GNPAT 8443 genome.wustl.edu 36 1 229468521 229468521 + Missense_Mutation SNP A A T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 229468521 229468521 A T SNP GNPAT NM_014236 human genbank 54_36p +1 reviewed missense c.911 p.K304I 1.000 superfamily_SSF69593 HMMPfam_Acyltransferase,superfamily_SSF69593,HMMSmart_PlsC - no_errors SIPA1L2 57568 genome.wustl.edu 36 1 230643701 230643701 + Missense_Mutation SNP T T C novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 230643701 230643701 T C SNP SIPA1L2 NM_020808 human genbank 54_36p -1 validated missense c.3601 p.K1201E 1.000 NULL superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors USP40 55230 genome.wustl.edu 36 2 234097915 234097915 + Missense_Mutation SNP C C A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 234097915 234097915 C A SNP USP40 NM_018218 human genbank 54_36p -1 validated missense c.1635 p.L545F 0.017 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HEATR1 55127 genome.wustl.edu 36 1 234816167 234816167 + Missense_Mutation SNP C C G novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 234816167 234816167 C G SNP HEATR1 NM_018072 human genbank 54_36p -1 validated missense c.1924 p.E642Q 1.000 NULL superfamily_ARM-type_fold,HMMPfam_HEAT,HMMPfam_BP28CT - no_errors LOC643905 643905 genome.wustl.edu 36 2 240630799 240630799 + Missense_Mutation SNP G G T novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 2 240630799 240630799 G T SNP LOC643905 NM_001080835 human genbank 54_36p -1 predicted missense c.274 p.L92I 0.000 NULL NULL - no_errors TP53 7157 genome.wustl.edu 36 17 7518324 7518325 + Frame_Shift_Ins INS - - A novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 17 7518324 7518325 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.682_681 p.D227fs 0.998:0.801 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 KCNJ11 3767 genome.wustl.edu 36 11 17365565 17365565 + Frame_Shift_Del DEL A A - novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 11 17365565 17365565 A - DEL KCNJ11 NM_000525 human genbank 54_36p -1 reviewed frame_shift_del c.650 p.M217fs 1.000 HMMPfam_IRK,superfamily_Ig_E-set HMMPfam_IRK,superfamily_SSF81324,superfamily_Ig_E-set (deletion:cds_exon[17365042,17366214]) no_errors KRT13 3860 genome.wustl.edu 36 17 36912825 36912851 + In_Frame_Del DEL CCATCTCCACGTTGACCTGGCCGACCA CCATCTCCACGTTGACCTGGCCGACCA - novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 CCATCTCCACGTTGACCTGGCCGACCA CCATCTCCACGTTGACCTGGCCGACCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 17 36912825 36912851 CCATCTCCACGTTGACCTGGCCGACCA - DEL KRT13 NM_153490 human genbank 54_36p -1 reviewed in_frame_del c.787_761 p.VVGQVNVEM254in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.968:0.969:0.918:0.932:0.993:0.988:0.002:0.003:0.026:0.020:0.022 HMMPfam_Filament,superfamily_Prefoldin HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF (deletion:cds_exon[36912715,36912876]) no_errors SHROOM4 57477 genome.wustl.edu 36 X 50367848 50367878 + Frame_Shift_Del DEL AGTCCAGTGCTGGGTTCTCAAGGCAAGGATG AGTCCAGTGCTGGGTTCTCAAGGCAAGGATG - novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 AGTCCAGTGCTGGGTTCTCAAGGCAAGGATG AGTCCAGTGCTGGGTTCTCAAGGCAAGGATG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 X 50367848 50367878 AGTCCAGTGCTGGGTTCTCAAGGCAAGGATG - DEL SHROOM4 NM_020717 human genbank 54_36p -1 reviewed frame_shift_del c.3034_3004 p.H1002fs 0.998:0.988:0.989:0.986:0.978:0.981:0.995:0.993:0.994:0.998:0.998:0.999:0.997:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.953:0.935:0.929:0.924:0.913:0.854:0.864:0.798:0.746:0.827:0.886 NULL superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2 (deletion:cds_exon[50367121,50367924]) no_errors PHF8 23133 genome.wustl.edu 36 X 54059895 54059914 + Splice_Site DEL CTGGAGTAAAGAGATAGGTT CTGGAGTAAAGAGATAGGTT - novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 CTGGAGTAAAGAGATAGGTT CTGGAGTAAAGAGATAGGTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 X 54059895 54059914 CTGGAGTAAAGAGATAGGTT - DEL PHF8 NM_015107 human genbank 54_36p -1 validated splice_site_del c.455-20_455-1 e5-1 1.000:0.999:0.888:0.005:0.002:0.000:0.001:0.051:0.037:0.032:0.005:0.000:0.001:0.005:0.002:0.000:0.000:0.001:0.001:0.003 - - (deletion:intron[54059895,54060818]) no_errors TSNAXIP1 55815 genome.wustl.edu 36 16 66415030 66415055 + Frame_Shift_Del DEL CCTTACAGAGAGATCTTTGAGTTCTT CCTTACAGAGAGATCTTTGAGTTCTT - novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 CCTTACAGAGAGATCTTTGAGTTCTT CCTTACAGAGAGATCTTTGAGTTCTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 16 66415030 66415055 CCTTACAGAGAGATCTTTGAGTTCTT - DEL TSNAXIP1 NM_018430 human genbank 54_36p +1 validated frame_shift_del c.226_251 p.P76fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL NULL (deletion:cds_exon[66415030,66415123]) no_errors TMEM132B 114795 genome.wustl.edu 36 12 124400307 124400323 + Frame_Shift_Del DEL CAGACCTTGTTTTATGT CAGACCTTGTTTTATGT - novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 CAGACCTTGTTTTATGT CAGACCTTGTTTTATGT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 12 124400307 124400323 CAGACCTTGTTTTATGT - DEL TMEM132B NM_052907 human genbank 54_36p +1 provisional frame_shift_del c.409_425 p.Q137fs 1.000:1.000:1.000:0.998:0.974:0.027:0.079:0.991:1.000:1.000:1.000:0.976:0.995:0.990:0.153:0.089:0.113 NULL NULL (deletion:cds_exon[124399951,124400842]) no_errors ITGA10 8515 genome.wustl.edu 36 1 144242341 144242341 + Frame_Shift_Del DEL A A - novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 144242341 144242341 A - DEL ITGA10 NM_003637 human genbank 54_36p +1 reviewed frame_shift_del c.716 p.E239fs 1.000 superfamily_Integrin alpha N-terminal domain,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains (deletion:cds_exon[144242235,144242383]) no_errors IL10 3586 genome.wustl.edu 36 1 205008666 205008699 + Frame_Shift_Del DEL TCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG TCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG - novel unknown TCGA-29-1691-01A-01W-0633-09 TCGA-29-1691-10A-01W-0633-09 TCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG TCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 65926e04-6720-4ac9-a5dd-06b0109b4d8d a2bf02d4-c423-47a0-bd6b-7aef7bf12c88 1 205008666 205008699 TCATGGCTTTGTAGATGCCTTTCTCTTGGAGCTG - DEL IL10 NM_000572 human genbank 54_36p -1 reviewed frame_shift_del c.475_445 p.L149fs 1.000:1.000:1.000:1.000:0.998:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.998:0.994:0.941:0.905:0.994:1.000:1.000:1.000:0.998:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 HMMPfam_IL10,superfamily_4-helical cytokines,HMMSmart_SM00188 HMMPfam_IL10,superfamily_4-helical cytokines,HMMSmart_SM00188,PatternScan_INTERLEUKIN_10 (deletion:cds_exon[205008604,205008696], intron[205008697,205009796]) no_errors