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 MT-CO3 4514 genome.wustl.edu 36 MT 8507 8507 + Silent SNP T T C novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 MT 8507 8507 T C SNP MT-CO3 ENST00000361851 human ensembl 54_36p +1 known silent c.141 p.Y47 NULL HMMPfam_ATP-synt_8 HMMPfam_ATP-synt_8 - no_errors uc010djz.1 0 genome.wustl.edu 36 18 38209 38209 + Silent SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 18 38209 38209 C T SNP uc010djz.1 ENST00000308911 human ensembl 54_36p -1 known silent c.516 p.S172 1.000 superfamily_Tubulin_FtsZ,HMMPfam_Tubulin PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C - no_errors CRIPAK 285464 genome.wustl.edu 36 4 1378429 1378429 + Missense_Mutation SNP G A A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 4 1378429 1378429 G A SNP CRIPAK NM_175918 human genbank 54_36p +1 validated missense c.130 p.A44T 0.002 HMMSmart_PostSET HMMSmart_PostSET - no_errors RSPH10B 222967 genome.wustl.edu 36 7 5971849 5971849 + Missense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 7 5971849 5971849 C T SNP RSPH10B NM_173565 human genbank 54_36p -1 validated missense c.275 p.R92H 0.739 HMMPfam_MORN,superfamily_SSF82185 HMMPfam_MORN,superfamily_SSF82185,HMMSmart_MORN - no_errors RSPH10B2 728194 genome.wustl.edu 36 7 6765260 6765260 + Missense_Mutation SNP G G A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 7 6765260 6765260 G A SNP RSPH10B2 NM_001099697 human genbank 54_36p +1 provisional missense c.275 p.R92H 0.623 HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698 - no_errors DNAH2 146754 genome.wustl.edu 36 17 7581119 7581119 + Missense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 17 7581119 7581119 C T SNP DNAH2 NM_020877 human genbank 54_36p +1 validated missense c.988 p.R330C 0.000 HMMPfam_DHC_N1 HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors OR2Z1 284383 genome.wustl.edu 36 19 8702588 8702588 + Silent SNP C C G novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 19 8702588 8702588 C G SNP OR2Z1 NM_001004699 human genbank 54_36p +1 provisional silent c.198 p.L66 0.981 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors RP1L1 94137 genome.wustl.edu 36 8 10505014 10505014 + Missense_Mutation SNP C C A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 8 10505014 10505014 C A SNP RP1L1 NM_178857 human genbank 54_36p -1 validated missense c.4004 p.G1335V 0.003 NULL superfamily_SSF89837,HMMPfam_DCX,HMMPfam_S-antigen - no_errors SPIRE1 56907 genome.wustl.edu 36 18 12502507 12502507 + Missense_Mutation SNP C C A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 18 12502507 12502507 C A SNP SPIRE1 NM_020148 human genbank 54_36p -1 validated missense c.276 p.M92I 1.000 NULL superfamily_FYVE_PHD_ZnF - no_errors NBPF1 55672 genome.wustl.edu 36 1 16775443 16775443 + Silent SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 16775443 16775443 C T SNP NBPF1 ENST00000287968 human ensembl 54_36p -1 known silent c.192 p.P64 0.002 NULL HMMPfam_DUF1220 - no_errors ENSG00000212455 0 genome.wustl.edu 36 2 18085396 18085396 + RNA SNP G A A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 2 18085396 18085396 G A SNP ENSG00000212455 ENST00000391153 human ensembl 54_36p -1 novel rna NULL NULL 0.988 - - - no_errors ELA3A 10136 genome.wustl.edu 36 1 22208870 22208870 + Missense_Mutation SNP G T T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 22208870 22208870 G T SNP ELA3A NM_005747 human genbank 54_36p +1 reviewed missense c.728 p.G243V 1.000 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 LOC100133627 0 genome.wustl.edu 36 8 23172136 23172136 + RNA SNP A A G novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 8 23172136 23172136 A G SNP LOC100133627 XR_037285 human genbank 54_36p +1 model rna NULL NULL 0.000 - - - pseudogene TAOK1 57551 genome.wustl.edu 36 17 24862050 24862050 + Missense_Mutation SNP A A G novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 17 24862050 24862050 A G SNP TAOK1 NM_020791 human genbank 54_36p +1 validated missense c.1618 p.I540V 1.000 superfamily_Protein kinase-like (PK-like) superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors GPR113 165082 genome.wustl.edu 36 2 26387958 26387958 + Silent SNP G G A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 2 26387958 26387958 G A SNP GPR113 NM_153835 human genbank 54_36p -1 validated silent c.1545 p.H515 0.502 HMMPfam_GPS,HMMSmart_GPS HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors C1orf172 126695 genome.wustl.edu 36 1 27150530 27150530 + Missense_Mutation SNP C T T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 27150530 27150530 C T SNP C1orf172 NM_152365 human genbank 54_36p -1 predicted missense c.929 p.R310H 0.905 NULL NULL - no_errors LOC728888 728888 genome.wustl.edu 36 16 29302053 29302053 + RNA SNP G G T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 16 29302053 29302053 G T SNP LOC728888 XR_015889 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - no_errors DEFB118 117285 genome.wustl.edu 36 20 29424452 29424452 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 20 29424452 29424452 C T SNP DEFB118 NM_054112 human genbank 54_36p +1 provisional nonsense c.190 p.R64* 0.000 NULL NULL - no_errors SEZ6L2 26470 genome.wustl.edu 36 16 29806522 29806522 + Missense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 16 29806522 29806522 C T SNP SEZ6L2 NM_201575 human genbank 54_36p -1 validated missense c.1157 p.R386H 1.000 superfamily_Spermadhesin CUB domain,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB - no_errors STRN3 29966 genome.wustl.edu 36 14 30486178 30486178 + Silent SNP T T C novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 14 30486178 30486178 T C SNP STRN3 NM_001083893 human genbank 54_36p -1 validated silent c.585 p.V195 0.996 HMMPfam_Striatin HMMPfam_Striatin,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors ASXL1 171023 genome.wustl.edu 36 20 30488111 30488111 + Missense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 20 30488111 30488111 C T SNP ASXL1 NM_015338 human genbank 54_36p +1 reviewed missense c.3935 p.A1312V 0.001 NULL NULL - no_errors TUBB 203068 genome.wustl.edu 36 6 30799265 30799265 + Silent SNP T T A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 6 30799265 30799265 T A SNP TUBB NM_178014 human genbank 54_36p +1 provisional silent c.447 p.T149 1.000 superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C - no_errors MRM1 79922 genome.wustl.edu 36 17 32032711 32032711 + Missense_Mutation SNP G C C novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 17 32032711 32032711 G C SNP MRM1 NM_024864 human genbank 54_36p +1 validated missense c.359 p.C120S 1.000 superfamily_L30e-like,HMMPfam_SpoU_sub_bind,superfamily_alpha/beta knot superfamily_L30e-like,HMMPfam_SpoU_sub_bind,superfamily_alpha/beta knot,HMMPfam_SpoU_methylase - no_errors GJD4 219770 genome.wustl.edu 36 10 35936706 35936706 + Missense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 10 35936706 35936706 C T SNP GJD4 NM_153368 human genbank 54_36p +1 validated missense c.259 p.L87F 0.374 HMMPfam_Connexin HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2 - no_errors SOS1 6654 genome.wustl.edu 36 2 39066644 39066644 + Missense_Mutation SNP G G A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 2 39066644 39066644 G A SNP SOS1 NM_005633 human genbank 54_36p -1 reviewed missense c.3827 p.P1276L 1.000 NULL superfamily_Histone-fold,HMMPfam_Histone,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF - no_errors IPO13 9670 genome.wustl.edu 36 1 44199443 44199443 + Missense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 44199443 44199443 C T SNP IPO13 NM_014652 human genbank 54_36p +1 reviewed missense c.2266 p.H756Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_IBN_N,HMMPfam_Xpo1 - no_errors CROP 51747 genome.wustl.edu 36 17 46178167 46178167 + Missense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 17 46178167 46178167 C T SNP CROP NM_006107 human genbank 54_36p +1 reviewed missense c.781 p.R261W 0.980 HMMPfam_LUC7 HMMPfam_LUC7 - no_errors LOC387924 387924 genome.wustl.edu 36 13 48682556 48682556 + RNA SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 13 48682556 48682556 C T SNP LOC387924 XR_017443 human genbank 54_36p -1 model rna NULL NULL 0.951 - - - pseudogene NICN1 84276 genome.wustl.edu 36 3 49438704 49438704 + Silent SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 3 49438704 49438704 C T SNP NICN1 NM_032316 human genbank 54_36p -1 reviewed silent c.294 p.S98 0.968 NULL NULL - no_errors LOC220433 220433 genome.wustl.edu 36 13 50933431 50933431 + RNA SNP C C A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 13 50933431 50933431 C A SNP LOC220433 XR_041057 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene STAB1 23166 genome.wustl.edu 36 3 52526050 52526050 + Silent SNP C T T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 3 52526050 52526050 C T SNP STAB1 NM_015136 human genbank 54_36p +1 reviewed silent c.4374 p.P1458 0.991 superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181 superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,HMMSmart_SM00180,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_FAS1 domain,HMMSmart_SM00554,HMMPfam_Fasciclin,PatternScan_CYTOCHROME_P450,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_LAM_1,HMMPfam_Laminin_EGF,superfamily_Growth factor receptor domain,HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like,PatternScan_LINK_1 - no_errors NUP62 23636 genome.wustl.edu 36 19 55104029 55104029 + Missense_Mutation SNP C G G novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 19 55104029 55104029 C G SNP NUP62 NM_012346 human genbank 54_36p -1 reviewed missense c.848 p.S283T 0.018 NULL HMMPfam_Nsp1_C - no_errors LOC728115 728115 genome.wustl.edu 36 18 55834779 55834779 + RNA SNP G A A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 18 55834779 55834779 G A SNP LOC728115 XR_038858 human genbank 54_36p -1 model rna NULL NULL 0.072 - - - pseudogene PSMC5 5705 genome.wustl.edu 36 17 59261906 59261906 + Silent SNP G G A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 17 59261906 59261906 G A SNP PSMC5 NM_002805 human genbank 54_36p +1 reviewed silent c.558 p.V186 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA - no_errors NLRP4 147945 genome.wustl.edu 36 19 61064619 61064619 + Missense_Mutation SNP G G A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 19 61064619 61064619 G A SNP NLRP4 NM_134444 human genbank 54_36p +1 validated missense c.1912 p.G638R 0.000 superfamily_RNI-like,HMMSmart_SM00368 superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368 - no_errors SYNE2 23224 genome.wustl.edu 36 14 63750876 63750876 + Missense_Mutation SNP G G C novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 14 63750876 63750876 G C SNP SYNE2 NM_182914 human genbank 54_36p +1 validated missense c.19268 p.G6423A 0.487 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 CLEC18A 348174 genome.wustl.edu 36 16 68542884 68542884 + Silent SNP G G A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 16 68542884 68542884 G A SNP CLEC18A NM_182619 human genbank 54_36p +1 validated silent c.114 p.P38 0.003 superfamily_PR-1-like superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors TTC9 23508 genome.wustl.edu 36 14 70204132 70204132 + Missense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 14 70204132 70204132 C T SNP TTC9 NM_015351 human genbank 54_36p +1 reviewed missense c.505 p.R169W 1.000 superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028 HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1 - no_errors ANKRD13C 81573 genome.wustl.edu 36 1 70515061 70515061 + Missense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 70515061 70515061 C T SNP ANKRD13C NM_030816 human genbank 54_36p -1 validated missense c.1270 p.E424K 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors NAP1L3 4675 genome.wustl.edu 36 X 92814037 92814037 + Missense_Mutation SNP G G A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 X 92814037 92814037 G A SNP NAP1L3 NM_004538 human genbank 54_36p -1 reviewed missense c.923 p.P308L 1.000 HMMPfam_NAP HMMPfam_NAP - no_errors LOC400061 400061 genome.wustl.edu 36 12 93439080 93439080 + RNA SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 12 93439080 93439080 C T SNP LOC400061 XR_016608 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene FILIP1L 11259 genome.wustl.edu 36 3 101050919 101050919 + Missense_Mutation SNP A A G novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 3 101050919 101050919 A G SNP FILIP1L NM_182909 human genbank 54_36p -1 validated missense c.2291 p.I764T 1.000 superfamily_Prefoldin HMMPfam_CortBP2,superfamily_Prefoldin - no_errors GBF1 8729 genome.wustl.edu 36 10 104126539 104126539 + Missense_Mutation SNP T T C novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 10 104126539 104126539 T C SNP GBF1 NM_004193 human genbank 54_36p +1 provisional missense c.4277 p.L1426P 1.000 NULL superfamily_Sec7,HMMPfam_Sec7,HMMSmart_Sec7 - no_errors SFXN2 118980 genome.wustl.edu 36 10 104476503 104476503 + Silent SNP G G A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 10 104476503 104476503 G A SNP SFXN2 NM_178858 human genbank 54_36p +1 validated silent c.120 p.E40 1.000 HMMPfam_Mtc HMMPfam_Mtc - no_errors FRMPD3 84443 genome.wustl.edu 36 X 106731942 106731942 + Silent SNP A A G novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 X 106731942 106731942 A G SNP FRMPD3 XM_042978 human genbank 54_36p +1 model silent c.4116 p.P1372 0.003 NULL PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M - no_errors LOC389787 0 genome.wustl.edu 36 9 119885295 119885295 + Missense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 9 119885295 119885295 C T SNP LOC389787 XM_001725747 human genbank 54_36p -1 model missense c.85 p.E29K 0.100 HMMPfam_TCTP,superfamily_Mss4-like HMMPfam_TCTP,superfamily_Mss4-like,PatternScan_TCTP_2 - no_errors CDK5RAP2 55755 genome.wustl.edu 36 9 122273866 122273866 + Silent SNP G G A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 9 122273866 122273866 G A SNP CDK5RAP2 NM_018249 human genbank 54_36p -1 reviewed silent c.1839 p.S613 0.807 NULL HMMPfam_Microtub_assoc - no_errors LOC646255 646255 genome.wustl.edu 36 10 122882546 122882546 + RNA SNP G G T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 10 122882546 122882546 G T SNP LOC646255 XR_017113 human genbank 54_36p -1 model rna NULL NULL 0.021 - - - pseudogene LOC729012 729012 genome.wustl.edu 36 9 124564331 124564331 + Nonstop_Mutation SNP T T C novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 9 124564331 124564331 T C SNP LOC729012 XM_001130187 human genbank 54_36p +1 model nonstop c.364 p.*122R 0.438 NULL NULL - no_errors IRF5 3663 genome.wustl.edu 36 7 128374610 128374610 + Nonsense_Mutation SNP G A A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 7 128374610 128374610 G A SNP IRF5 NM_002200 human genbank 54_36p +1 reviewed nonsense c.542 p.W181* 0.391 NULL HMMSmart_IRF,HMMPfam_IRF,superfamily_SSF46785,PatternScan_IRF,superfamily_SMAD_FHA,HMMPfam_IRF-3 - no_errors LOC100128116 0 genome.wustl.edu 36 5 146066114 146066114 + RNA SNP C C G novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 5 146066114 146066114 C G SNP LOC100128116 XR_039194 human genbank 54_36p -1 model rna NULL NULL 0.001 - - - pseudogene HRNR 388697 genome.wustl.edu 36 1 150453900 150453900 + Missense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 150453900 150453900 C T SNP HRNR NM_001009931 human genbank 54_36p -1 validated missense c.6829 p.G2277S 0.000 NULL superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK - no_errors FLG 2312 genome.wustl.edu 36 1 150545179 150545179 + Missense_Mutation SNP T T C novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 150545179 150545179 T C SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.8807 p.D2936G 0.000 NULL superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin - no_errors FLG 2312 genome.wustl.edu 36 1 150545643 150545643 + Silent SNP G G A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 150545643 150545643 G A SNP FLG NM_002016 human genbank 54_36p -1 provisional silent c.8343 p.D2781 0.000 NULL PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473 - no_errors LPA 4018 genome.wustl.edu 36 6 160888899 160888899 + Missense_Mutation SNP G G A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 6 160888899 160888899 G A SNP LPA NM_005577 human genbank 54_36p -1 validated missense c.5216 p.T1739M 0.000 HMMSmart_SM00130,superfamily_Kringle-like,HMMPfam_Kringle 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 GPR1 2825 genome.wustl.edu 36 2 206750042 206750042 + Missense_Mutation SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 2 206750042 206750042 C T SNP GPR1 NM_001098199 human genbank 54_36p -1 validated missense c.175 p.V59I 0.995 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors COG2 22796 genome.wustl.edu 36 1 228887584 228887584 + Silent SNP A A G novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 228887584 228887584 A G SNP COG2 NM_007357 human genbank 54_36p +1 reviewed silent c.1359 p.R453 0.860 NULL HMMPfam_COG2 - no_errors NCL 4691 genome.wustl.edu 36 2 232035517 232035517 + Silent SNP G G A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 2 232035517 232035517 G A SNP NCL ENST00000392033 human ensembl 54_36p -1 known silent c.147 p.D49 0.030 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMSmart_SM00361 - no_errors OR2T2 401992 genome.wustl.edu 36 1 246683387 246683387 + Silent SNP C C T novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 246683387 246683387 C T SNP OR2T2 NM_001004136 human genbank 54_36p +1 provisional silent c.666 p.I222 0.011 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC727833 727833 genome.wustl.edu 36 16 10113351 10113352 + RNA INS - - AAGA novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 16 10113351 10113352 - AAGA INS LOC727833 XR_015181 human genbank 54_36p +1 model rna NULL NULL 1.000:1.000 - - - pseudogene ENSG00000184669 0 genome.wustl.edu 36 11 17030390 17030390 + Splice_Site DEL C C - novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 11 17030390 17030390 C - DEL ENSG00000184669 ENST00000333752 human ensembl 54_36p +1 novel splice_site_del c.NULL NULL 0.179 - - (deletion:intron[17030388,17030391]) no_coding_region:pseudogene ZNF683 257101 genome.wustl.edu 36 1 26563874 26563897 + In_Frame_Del DEL CCACCGAGCGCTGGGGTGCCCCAG CCACCGAGCGCTGGGGTGCCCCAG - novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 CCACCGAGCGCTGGGGTGCCCCAG CCACCGAGCGCTGGGGTGCCCCAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 26563874 26563897 CCACCGAGCGCTGGGGTGCCCCAG - DEL ZNF683 NM_173574 human genbank 54_36p -1 validated in_frame_del c.750_727 p.LGHPSARW243in_frame_del 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.032:0.013:0.002:0.003:0.001:0.000:0.001:0.000:0.002:0.000 NULL superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 (deletion:cds_exon[26563610,26564304]) no_errors MCART2 147407 genome.wustl.edu 36 18 27593966 27593967 + Frame_Shift_Ins INS - - C novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 18 27593966 27593967 - C INS MCART2 NM_001034172 human genbank 54_36p -1 validated frame_shift_ins c.657_656 p.L220fs 0.995:0.999 superfamily_Mitochondrial carrier,HMMPfam_Mito_carr superfamily_Mitochondrial carrier,HMMPfam_Mito_carr - no_errors BAT2 7916 genome.wustl.edu 36 6 31703752 31703763 + In_Frame_Del DEL CCTGCTGCCCCA CCTGCTGCCCCA - novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 CCTGCTGCCCCA CCTGCTGCCCCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 6 31703752 31703763 CCTGCTGCCCCA - DEL BAT2 NM_080686 human genbank 54_36p +1 reviewed in_frame_del c.1522_1533 p.PPAA511in_frame_del 0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.999:0.993:0.773 NULL HMMPfam_BAT2_N (deletion:cds_exon[31703521,31703995]) no_errors NLRC5 84166 genome.wustl.edu 36 16 55653344 55653347 + Frame_Shift_Del DEL AAAG AAAG - novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 AAAG AAAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 16 55653344 55653347 AAAG - DEL NLRC5 ENST00000327982 human ensembl 54_36p +1 known frame_shift_del c.3278_3281 p.K1096fs 0.005:0.001:0.000:0.000 NULL HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368 (deletion:cds_exon[55653273,55653357]) no_stop_codon SPTB 6710 genome.wustl.edu 36 14 64286576 64286578 + In_Frame_Del DEL AGA AGA - novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 AGA AGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 14 64286576 64286578 AGA - DEL SPTB NM_001024858 human genbank 54_36p -1 validated in_frame_del c.6652_6650 p.F2217in_frame_del 1.000:1.000:1.000 HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH (deletion:cds_exon[64286452,64286625]) no_errors DENND4B 9909 genome.wustl.edu 36 1 152173903 152173911 + In_Frame_Del DEL CTGCTGCTG CTGCTGCTG - novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 CTGCTGCTG CTGCTGCTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 152173903 152173911 CTGCTGCTG - DEL DENND4B NM_014856 human genbank 54_36p -1 validated in_frame_del c.2730_2722 p.QQQ908in_frame_del 0.852:0.853:0.853:0.867:0.882:0.897:0.913:0.962:0.976 NULL HMMSmart_uDENN,HMMPfam_uDENN,HMMPfam_DENN,HMMSmart_DENN,HMMPfam_dDENN,HMMSmart_dDENN,HMMPfam_PPR (deletion:cds_exon[152173860,152174064]) no_errors TOR1AIP1 26092 genome.wustl.edu 36 1 178137103 178137104 + Frame_Shift_Ins INS - - A novel unknown TCGA-29-1690-01A-01W-0633-09 TCGA-29-1690-10A-01W-0633-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 33e066de-5376-4149-97fa-bc4897a13c16 8a75c82b-7afe-4adc-94e5-6a1cd277a420 1 178137103 178137104 - A INS TOR1AIP1 NM_015602 human genbank 54_36p +1 validated frame_shift_ins c.696_697 p.T232fs 0.008:0.008 HMMPfam_LAP1C HMMPfam_LAP1C - no_errors