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 default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val TUBB8 0 genome.wustl.edu 37 10 93505 93505 + Missense_Mutation SNP C C T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 10 93505 93505 C T SNP TUBB8 ENST00000309812 human ensembl 74_37 -1 known missense c.827 p.R276Q 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB8 HGNC ENSG00000173876 tier1 rs147114528 - 81 0 0.00 32 6 15.00 DCHS2 0 genome.wustl.edu 37 4 155298547 155298547 + Missense_Mutation SNP G G A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 4 155298547 155298547 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.284 p.S95F 0.861 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_D-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 43 0 0.00 22 21 48.84 USH2A 0 genome.wustl.edu 37 1 216246484 216246484 + Missense_Mutation SNP C C T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 1 216246484 216246484 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.5731 p.G1911R 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 24 0 0.00 9 8 47.06 LIPF 0 genome.wustl.edu 37 10 90438361 90438361 + Missense_Mutation SNP G G C TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 10 90438361 90438361 G C SNP LIPF ENST00000394375 human ensembl 74_37 +1 known missense c.1150 p.D384H 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPF HGNC ENSG00000182333 tier1 rs150812830 - 68 0 0.00 48 41 45.56 LOC100996351 0 genome.wustl.edu 37 19 3148865 3148866 + R INS - - CAGGG TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 19 3148865 3148866 - CAGGG INS LOC100996351 ENST00000587587 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors AC005264.2 Clone_based_vega_gene ENSG00000267551 tier1 SETD2 0 genome.wustl.edu 37 3 47164759 47164759 + Missense_Mutation SNP C C T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 3 47164759 47164759 C T SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.1367 p.R456Q 0.990 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 tier1 - - 88 0 0.00 56 26 31.33 MLLT3 0 genome.wustl.edu 37 9 20622417 20622417 + R SNP G G A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 9 20622417 20622417 G A SNP MLLT3 ENST00000475957 human ensembl 74_37 -1 known rna NULL NULL 0.983 - - - no_errors MLLT3 HGNC ENSG00000171843 tier1 - - 58 0 0.00 31 27 46.55 NPIPA1 0 genome.wustl.edu 37 16 15045631 15045631 + Missense_Mutation SNP G G A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 16 15045631 15045631 G A SNP NPIPA1 ENST00000328085 human ensembl 74_37 +1 novel missense c.802 p.E268K 0.032 NULL NULL - no_errors NPIPA1 HGNC ENSG00000183426 tier1 rs201805072 - 43 0 0.00 38 5 11.63 FAM230B 0 genome.wustl.edu 37 22 21537762 21537762 + R SNP C C T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 22 21537762 21537762 C T SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 - - 58 0 0.00 46 55 53.92 TUBGCP3 0 genome.wustl.edu 37 13 113170867 113170867 + Missense_Mutation SNP C C T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 13 113170867 113170867 C T SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known missense c.1973 p.S658N 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 tier1 - - 42 0 0.00 20 19 48.72 MTUS2 0 genome.wustl.edu 37 13 29675048 29675048 + Missense_Mutation SNP C C T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 13 29675048 29675048 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2615 p.S872L 0.999 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 75 0 0.00 40 27 40.30 GPR179 0 genome.wustl.edu 37 17 36482852 36482852 + Silent SNP C C A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 17 36482852 36482852 C A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known silent c.6600 p.L2200 0.004 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 45 0 0.00 36 4 10.00 HMP19 0 genome.wustl.edu 37 5 173534646 173534646 + R SNP C C T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 5 173534646 173534646 C T SNP HMP19 ENST00000521146 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors NSG2 Uniprot_gn ENSG00000170091 tier1 - - 15 0 0.00 6 6 50.00 FAM138D 0 genome.wustl.edu 37 12 148078 148078 + R SNP G G A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 12 148078 148078 G A SNP FAM138D ENST00000320165 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM138D HGNC ENSG00000206114 tier1 rs8181620 - 11 0 0.00 4 5 55.56 ALAS2 0 genome.wustl.edu 37 X 55051216 55051216 + Missense_Mutation SNP C C G TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a X 55051216 55051216 C G SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.239 p.G80A 1.000 pfam_5aminolev_synth_preseq pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 tier1 - - 79 0 0.00 79 28 26.17 SDHAF2 0 genome.wustl.edu 37 11 61249257 61249257 + Missense_Mutation SNP C C A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 11 61249257 61249257 C A SNP SDHAF2 ENST00000538594 human ensembl 74_37 +1 known missense c.374 p.P125H 0.085 NULL pfam_SDH,superfamily_SDH - no_errors RP11-286N22.8 Clone_based_vega_gene ENSG00000256591 tier1 - - 26 0 0.00 17 15 46.88 LCN 0 genome.wustl.edu 37 13 101717809 101717809 + Silent SNP G G A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 13 101717809 101717809 G A SNP LCN ENST00000251127 human ensembl 74_37 -1 known silent c.4551 p.Y1517 0.943 NULL pfam_Ion_trans_dom - no_errors LCN HGNC ENSG00000102452 tier1 - - 51 0 0.00 20 19 48.72 MTUS2 0 genome.wustl.edu 37 13 29674957 29674957 + Missense_Mutation SNP C C T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 13 29674957 29674957 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2524 p.P842S 0.182 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 61 0 0.00 35 27 43.55 KIAA0753 0 genome.wustl.edu 37 17 6531919 6531920 + Frame_Shift_Ins INS - - CT TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 17 6531919 6531920 - CT INS KIAA0753 ENST00000361413 human ensembl 74_37 -1 known frame_shift_ins c.236_235 p.V79fs 0.000:0.001 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 tier1 51 0 0.00 17 2 10.53 MTUS2 0 genome.wustl.edu 37 13 29675028 29675028 + Silent SNP C C G TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 13 29675028 29675028 C G SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known silent c.2595 p.V865 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 76 0 0.00 43 30 41.10 FKBP4 0 genome.wustl.edu 37 12 2907947 2907947 + Missense_Mutation SNP C C T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 12 2907947 2907947 C T SNP FKBP4 ENST00000001008 human ensembl 74_37 +1 known missense c.469 p.R157C 0.975 NULL pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP4 HGNC ENSG00000004478 tier1 - - 62 0 0.00 31 29 48.33 GNN 0 genome.wustl.edu 37 12 104308806 104308806 + R SNP A A T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 12 104308806 104308806 A T SNP GNN ENST00000388789 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors RP11-642P15.1 Clone_based_vega_gene ENSG00000214198 tier1 - - 16 0 0.00 5 5 50.00 RAB6A 0 genome.wustl.edu 37 11 73429869 73429869 + Missense_Mutation SNP G G A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 11 73429869 73429869 G A SNP RAB6A ENST00000310653 human ensembl 74_37 -1 known missense c.250 p.R84C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB6A HGNC ENSG00000175582 tier1 - - 71 0 0.00 31 32 50.79 DCAF16 0 genome.wustl.edu 37 4 17805189 17805189 + Silent SNP A A G TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 4 17805189 17805189 A G SNP DCAF16 ENST00000382247 human ensembl 74_37 -1 known silent c.576 p.T192 0.702 NULL NULL - no_errors DCAF16 HGNC ENSG00000163257 tier1 - - 148 0 0.00 99 22 18.03 DIP2B 0 genome.wustl.edu 37 12 51125291 51125291 + Missense_Mutation SNP G G T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 12 51125291 51125291 G T SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.3781 p.G1261C 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 tier1 - - 22 0 0.00 12 16 57.14 TUBBP5 0 genome.wustl.edu 37 9 141070741 141070741 + R SNP C C G TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 9 141070741 141070741 C G SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors TUBBP5 HGNC ENSG00000159247 tier1 rs199744699 - 23 0 0.00 21 6 22.22 PPFIBP2 0 genome.wustl.edu 37 11 7669673 7669673 + Nonsense_Mutation SNP G G T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 11 7669673 7669673 G T SNP PPFIBP2 ENST00000299492 human ensembl 74_37 +1 known nonsense c.1702 p.E568* 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_D-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 tier1 - - 54 0 0.00 32 16 33.33 TSC2 0 genome.wustl.edu 37 16 2107142 2107143 + Frame_Shift_Del DEL AG AG - TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 16 2107142 2107143 AG - DEL TSC2 ENST00000219476 human ensembl 74_37 +1 known frame_shift_del c.811_812 p.S271fs 1.000:1.000 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 tier1 72 0 0.00 55 30 35.29 C1orf210 0 genome.wustl.edu 37 1 43748630 43748630 + Silent SNP G G T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 1 43748630 43748630 G T SNP C1orf210 ENST00000423420 human ensembl 74_37 -1 known silent c.168 p.L56 1.000 NULL NULL - no_errors C1orf210 HGNC ENSG00000253313 tier1 - - 35 0 0.00 26 29 52.73 SUCNR1 0 genome.wustl.edu 37 3 151598364 151598364 + Missense_Mutation SNP C C G TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 3 151598364 151598364 C G SNP SUCNR1 ENST00000362032 human ensembl 74_37 +1 known missense c.33 p.C11W 0.015 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors SUCNR1 HGNC ENSG00000198829 tier1 - - 71 0 0.00 76 7 8.43 ATP6AP1 0 genome.wustl.edu 37 X 153660771 153660771 + Missense_Mutation SNP G G T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a X 153660771 153660771 G T SNP ATP6AP1 ENST00000369762 human ensembl 74_37 +1 known missense c.523 p.A175S 0.742 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 tier1 - - 43 0 0.00 34 26 43.33 XPNPEP2 0 genome.wustl.edu 37 X 128894541 128894541 + Missense_Mutation SNP T T G TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a X 128894541 128894541 T G SNP XPNPEP2 ENST00000371106 human ensembl 74_37 +1 known missense c.1482 p.F494L 0.998 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 tier1 - - 42 0 0.00 22 20 47.62 ARRDC1 0 genome.wustl.edu 37 9 140508122 140508122 + Silent SNP G G A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 9 140508122 140508122 G A SNP ARRDC1 ENST00000371421 human ensembl 74_37 +1 known silent c.336 p.R112 0.999 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC1 HGNC ENSG00000197070 tier1 - - 65 0 0.00 39 40 50.63 TMTC3 0 genome.wustl.edu 37 12 88566467 88566467 + Missense_Mutation SNP A A T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 12 88566467 88566467 A T SNP TMTC3 ENST00000266712 human ensembl 74_37 +1 known missense c.1144 p.S382C 1.000 NULL pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 tier1 - - 34 0 0.00 20 18 47.37 TP53 0 genome.wustl.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 17 7578395 7578395 G T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.535 p.H179N 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 35 0 0.00 3 18 85.71 DJB2 0 genome.wustl.edu 37 2 220147939 220147939 + Missense_Mutation SNP G G T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 2 220147939 220147939 G T SNP DJB2 ENST00000336576 human ensembl 74_37 +1 known missense c.530 p.R177L 0.121 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DJB2 HGNC ENSG00000135924 tier1 - - 71 0 0.00 19 33 63.46 TRPM5 0 genome.wustl.edu 37 11 2443469 2443469 + Missense_Mutation SNP A A T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 11 2443469 2443469 A T SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known missense c.200 p.L67Q 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 tier1 - - 37 0 0.00 20 22 52.38 ZBTB16 0 genome.wustl.edu 37 11 113934249 113934249 + Missense_Mutation SNP C C T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 11 113934249 113934249 C T SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.227 p.S76L 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 tier1 - - 40 0 0.00 36 15 29.41 TEKT4 0 genome.wustl.edu 37 2 95539831 95539831 + Missense_Mutation SNP T T C TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 2 95539831 95539831 T C SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.691 p.Y231H 0.907 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 tier1 rs199573327 - 31 0 0.00 35 8 18.60 CHRD 0 genome.wustl.edu 37 3 184099338 184099339 + Frame_Shift_Ins INS - - C TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 3 184099338 184099339 - C INS CHRD ENST00000204604 human ensembl 74_37 +1 known frame_shift_ins c.437_438 p.E148fs 1.000:0.988 pirsf_Chordin pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 tier1 21 0 0.00 19 11 36.67 RLIM 0 genome.wustl.edu 37 X 73812716 73812716 + Missense_Mutation SNP C C A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a X 73812716 73812716 C A SNP RLIM ENST00000332687 human ensembl 74_37 -1 known missense c.434 p.R145L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 tier1 - - 76 0 0.00 39 53 57.61 BCAP31 0 genome.wustl.edu 37 X 152981004 152981004 + Silent SNP G G A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a X 152981004 152981004 G A SNP BCAP31 ENST00000458587 human ensembl 74_37 -1 known silent c.535 p.L179 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP31 HGNC ENSG00000185825 tier1 - - 100 0 0.00 59 26 30.23 LOC440157 0 genome.wustl.edu 37 14 19686793 19686793 + R SNP T T C TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 14 19686793 19686793 T C SNP LOC440157 ENST00000418499 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors AL589743.1 Clone_based_vega_gene ENSG00000225210 tier1 - - 12 0 0.00 4 4 50.00 ENSG00000221474 0 genome.wustl.edu 37 3 122000728 122000729 + R DEL TG TG - TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 3 122000728 122000729 TG - DEL ENSG00000221474 ENST00000408547 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.001 - - - no_errors AC068754.1 Clone_based_ensembl_gene ENSG00000221474 tier1 29 0 0.00 20 6 23.08 IGSF9 0 genome.wustl.edu 37 1 159896888 159896895 + R DEL AGAGAGAG AGAGAGAG - TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 AGAGAGAG AGAGAGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 1 159896888 159896895 AGAGAGAG - DEL IGSF9 ENST00000476102 human ensembl 74_37 -1 known rna NULL NULL 0.745:0.529:0.496:0.454:0.373:0.271:0.214:0.033 - - - no_errors IGSF9 HGNC ENSG00000085552 tier1 ENSG00000215933 0 genome.wustl.edu 37 X 71372202 71372209 + R DEL CGCGCGCA CGCGCGCA - TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 CGCGCGCA CGCGCGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a X 71372202 71372209 CGCGCGCA - DEL ENSG00000215933 ENST00000401114 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.001:0.015:0.009 - - - no_errors BX119917.1 Clone_based_ensembl_gene ENSG00000215933 tier1 TPRXL 0 genome.wustl.edu 37 3 14106367 14106367 + Missense_Mutation SNP T T A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 3 14106367 14106367 T A SNP TPRXL ENST00000326972 human ensembl 74_37 +1 known missense c.691 p.C231S 0.007 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 tier1 - - 30 0 0.00 53 9 14.52 SRSF4 0 genome.wustl.edu 37 1 29475424 29475424 + Missense_Mutation SNP C C T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 1 29475424 29475424 C T SNP SRSF4 ENST00000373795 human ensembl 74_37 -1 known missense c.983 p.R328H 0.011 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF4 HGNC ENSG00000116350 tier1 - - 50 0 0.00 25 24 48.98 PPFIBP2 0 genome.wustl.edu 37 11 7669672 7669672 + Silent SNP G G T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 11 7669672 7669672 G T SNP PPFIBP2 ENST00000299492 human ensembl 74_37 +1 known silent c.1701 p.L567 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_D-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 tier1 - - 54 0 0.00 32 15 31.91 JARID2 0 genome.wustl.edu 37 6 15496913 15496913 + Missense_Mutation SNP A A G TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 6 15496913 15496913 A G SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.1457 p.K486R 0.620 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_D-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_D-bd,smart_TF_JmjN,smart_ARID/BRIGHT_D-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_D-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 - - 37 0 0.00 2 27 93.10 URB2 0 genome.wustl.edu 37 1 229773350 229773352 + In_Frame_Del DEL TCC TCC - TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 1 229773350 229773352 TCC - DEL URB2 ENST00000258243 human ensembl 74_37 +1 known in_frame_del c.2990_2992 p.L998in_frame_del 0.539:0.527:0.923 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 tier1 65 0 0.00 37 33 47.14 SERHL 0 genome.wustl.edu 37 22 42905075 42905075 + R SNP G G A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 22 42905075 42905075 G A SNP SERHL ENST00000359906 human ensembl 74_37 +1 known rna NULL NULL 0.051 - - - no_errors SERHL HGNC ENSG00000172250 tier1 rs139392843 - 81 0 0.00 46 4 8.00 LRP1B 0 genome.wustl.edu 37 2 141202013 141202013 + Missense_Mutation SNP G G T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 2 141202013 141202013 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10180 p.H3394N 1.000 superfamily_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 70 0 0.00 3 30 90.91 ENSG00000222001 0 genome.wustl.edu 37 2 233877660 233877660 + Silent SNP C C T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 2 233877660 233877660 C T SNP ENSG00000222001 ENST00000409905 human ensembl 74_37 +1 putative silent c.99 p.L33 0.000 NULL NULL - no_errors AC106876.2 Clone_based_vega_gene ENSG00000222001 tier1 - - 63 0 0.00 54 35 39.33 LILRB4 0 genome.wustl.edu 37 19 55179128 55179128 + Nonsense_Mutation SNP A A T TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 19 55179128 55179128 A T SNP LILRB4 ENST00000270452 human ensembl 74_37 +1 known nonsense c.1084 p.K362* 0.000 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors LILRB4 HGNC ENSG00000186818 tier1 - - 127 0 0.00 50 38 41.76 DOK7 0 genome.wustl.edu 37 4 3475303 3475303 + Missense_Mutation SNP T T A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a 4 3475303 3475303 T A SNP DOK7 ENST00000389653 human ensembl 74_37 +1 known missense c.271 p.F91I 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK7 HGNC ENSG00000175920 tier1 - - 69 0 0.00 41 38 48.10 FAM122B 0 genome.wustl.edu 37 X 133930160 133930160 + Missense_Mutation SNP C C A TCGA-KD-A5QT-01A-11D-A27P-09 TCGA-KD-A5QT-10A-01D-A27P-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 b10488d2-fee5-4732-9162-299bcbdc6b5c 41bf2742-b039-42a5-a300-014f3714424a X 133930160 133930160 C A SNP FAM122B ENST00000343004 human ensembl 74_37 -1 known missense c.76 p.A26S 1.000 NULL NULL - no_errors FAM122B HGNC ENSG00000156504 tier1 - - 35 0 0.00 22 21 48.84