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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA2 0 genome.wustl.edu 37 9 139913367 139913367 + Missense_Mutation SNP C C G TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 9 139913367 139913367 C G SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.1710 p.Q570H 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 73 0 0.00 54 4 6.90 ACTBL2 0 genome.wustl.edu 37 5 56777862 56777862 + Nonsense_Mutation SNP C C A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 5 56777862 56777862 C A SNP ACTBL2 ENST00000423391 human ensembl 74_37 -1 known nonsense c.673 p.E225* 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 tier1 - - 50 0 0.00 55 7 11.29 ADAMTS14 0 genome.wustl.edu 37 10 72517774 72517774 + Silent SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 10 72517774 72517774 C T SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known silent c.3003 p.N1001 0.056 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 tier1 - - 65 0 0.00 70 7 9.09 ADCY8 0 genome.wustl.edu 37 8 131955666 131955666 + Silent SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 8 131955666 131955666 C T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.1284 p.T428 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 25 0 0.00 51 7 12.07 ALG1 0 genome.wustl.edu 37 16 5122072 5122073 + Frame_Shift_Ins INS - - GTCT TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 16 5122072 5122073 - GTCT INS ALG1 ENST00000591822 human ensembl 74_37 +1 known frame_shift_ins c.222_223 p.W75fs 0.000:0.000 NULL NULL - no_errors ALG1 HGNC ENSG00000033011 tier1 12 0 0.00 5 3 37.50 ANKRA2 0 genome.wustl.edu 37 5 72850780 72850780 + Missense_Mutation SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 5 72850780 72850780 C T SNP ANKRA2 ENST00000296785 human ensembl 74_37 -1 known missense c.644 p.R215Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRA2 HGNC ENSG00000164331 tier1 - - 108 0 0.00 111 14 11.20 ARID1A 0 genome.wustl.edu 37 1 27089594 27089594 + Nonsense_Mutation SNP T T G TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 1 27089594 27089594 T G SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.2550 p.Y850* 0.965 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 53 0 0.00 43 22 33.85 ARPC5L 0 genome.wustl.edu 37 9 127639218 127639218 + Frame_Shift_Del DEL A A - TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 9 127639218 127639218 A - DEL ARPC5L ENST00000259477 human ensembl 74_37 +1 known frame_shift_del c.461 p.*154fs 1.000 NULL pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc - no_errors ARPC5L HGNC ENSG00000136950 tier1 31 0 0.00 38 2 5.00 BAIAP3 0 genome.wustl.edu 37 16 1398101 1398101 + Missense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 16 1398101 1398101 G A SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known missense c.3259 p.V1087M 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 19 0 0.00 31 5 13.89 BBS9 0 genome.wustl.edu 37 7 33312730 33312730 + Missense_Mutation SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 7 33312730 33312730 G T SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.809 p.C270F 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 tier1 - - 188 0 0.00 183 32 14.88 CACNA1B 0 genome.wustl.edu 37 9 140773613 140773613 + Splice_Site SNP T T A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 9 140773613 140773613 T A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known splice_site c.390+2 e2+2 1.000 - - - no_errors CACNA1B HGNC ENSG00000148408 23 0 0.00 18 4 18.18 CD1E 0 genome.wustl.edu 37 1 158325181 158325181 + Missense_Mutation SNP T T G TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 1 158325181 158325181 T G SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.447 p.S149R 1.000 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 tier1 - - 100 0 0.00 93 26 21.85 CDH1 0 genome.wustl.edu 37 16 68846050 68846050 + Missense_Mutation SNP T T G TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 16 68846050 68846050 T G SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.1021 p.Y341D 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 tier1 - - 86 0 0.00 49 20 28.99 CDK5RAP2 0 genome.wustl.edu 37 9 123201862 123201862 + Silent SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 9 123201862 123201862 G A SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known silent c.3537 p.Y1179 0.708 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 - - 54 0 0.00 44 16 26.67 CHD4 0 genome.wustl.edu 37 12 6696982 6696982 + Missense_Mutation SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 12 6696982 6696982 C T SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.3599 p.R1200Q 1.000 pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 tier1 - - 74 0 0.00 83 11 11.70 CLEC9A 0 genome.wustl.edu 37 12 10205420 10205421 + RNA INS - - T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 12 10205420 10205421 - T INS CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CLEC9A HGNC ENSG00000197992 tier1 15 0 0.00 17 2 10.53 COL5A2 0 genome.wustl.edu 37 2 189948711 189948711 + Missense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 2 189948711 189948711 G A SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.851 p.P284L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 tier1 - - 85 0 0.00 78 8 9.30 CRADD 0 genome.wustl.edu 37 12 94072587 94072587 + Missense_Mutation SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 12 94072587 94072587 C T SNP CRADD ENST00000332896 human ensembl 74_37 +1 known missense c.37 p.R13C 1.000 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD pfam_CARD,pfam_Death_domain,superfamily_DEATH-like_dom,smart_CARD,smart_Death_domain,pfscan_CARD,pfscan_Death_domain - no_errors CRADD HGNC ENSG00000169372 tier1 - - 67 0 0.00 51 5 8.93 CROCCP2 0 genome.wustl.edu 37 1 16945358 16945358 + RNA SNP G G C TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 1 16945358 16945358 G C SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.110 - - - no_errors CROCCP2 HGNC ENSG00000215908 tier1 rs945905 - 10 0 0.00 6 4 40.00 CTSE 0 genome.wustl.edu 37 1 206331081 206331081 + Missense_Mutation SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 1 206331081 206331081 C T SNP CTSE ENST00000361052 human ensembl 74_37 +1 known missense c.1102 p.P368S 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSE HGNC ENSG00000196188 tier1 - - 129 0 0.00 120 19 13.67 DEFB112 0 genome.wustl.edu 37 6 50011401 50011401 + Silent SNP T T G TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 6 50011401 50011401 T G SNP DEFB112 ENST00000322246 human ensembl 74_37 -1 known silent c.229 p.R77 0.000 NULL NULL - no_errors DEFB112 HGNC ENSG00000180872 tier1 - - 90 0 0.00 95 16 14.41 DNAH5 0 genome.wustl.edu 37 5 13769140 13769140 + Missense_Mutation SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 5 13769140 13769140 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9826 p.D3276N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 - - 206 0 0.00 190 17 8.21 DNAH5 0 genome.wustl.edu 37 5 13769135 13769135 + Frame_Shift_Del DEL T T - TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 5 13769135 13769135 T 0 DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.9831 p.A3278fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 194 0 0.00 182 14 7.14 DUOX1 0 genome.wustl.edu 37 15 45443390 45443390 + Silent SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 15 45443390 45443390 G T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known silent c.2958 p.L986 0.946 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 tier1 - - 77 0 0.00 68 5 6.85 EBF2 0 genome.wustl.edu 37 8 25898456 25898456 + Silent SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 8 25898456 25898456 G A SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known silent c.351 p.N117 0.787 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 tier1 - - 86 0 0.00 88 8 8.33 EFCAB4B 0 genome.wustl.edu 37 12 3788223 3788223 + Missense_Mutation SNP C C A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 12 3788223 3788223 C A SNP EFCAB4B ENST00000440314 human ensembl 74_37 -1 known missense c.382 p.A128S 0.014 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 tier1 - - 67 0 0.00 108 6 5.26 EFCAB6 0 genome.wustl.edu 37 22 43933363 43933363 + Silent SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 22 43933363 43933363 C T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known silent c.3942 p.E1314 0.763 pfam_EF_hand_Ca-bd_contain_6 pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 tier1 - - 67 0 0.00 79 12 13.19 ENSG00000212884 0 genome.wustl.edu 37 GL000205.1 117481 117481 + Missense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce GL000205.1 117481 117481 G A SNP ENSG00000212884 ENST00000391571 human ensembl 74_37 +1 known missense c.112 p.V38M NULL pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_cat_dom - no_errors AC011841.1 Clone_based_ensembl_gene ENSG00000212884 tier1 - - 33 0 0.00 44 5 10.20 ENSG00000267601 0 genome.wustl.edu 37 17 76851711 76851711 + RNA DEL T T - TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 17 76851711 76851711 T - DEL ENSG00000267601 ENST00000587434 human ensembl 74_37 +1 known rna NULL NULL 0.655 - - - no_errors RP11-323N12.5 Clone_based_vega_gene ENSG00000267601 tier1 18 0 0.00 17 2 10.53 ERC2 0 genome.wustl.edu 37 3 56044587 56044587 + Nonsense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 3 56044587 56044587 G A SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known nonsense c.1810 p.R604* 0.995 pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 132 0 0.00 129 20 13.42 ETV4 0 genome.wustl.edu 37 17 41610701 41610701 + Frame_Shift_Del DEL G G - TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 17 41610701 41610701 G - DEL ETV4 ENST00000319349 human ensembl 74_37 -1 known frame_shift_del c.399 p.R134fs 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 tier1 29 0 0.00 31 2 6.06 EYA1 0 genome.wustl.edu 37 8 72128979 72128979 + Silent SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 8 72128979 72128979 G A SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known silent c.1308 p.F436 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 tier1 - - 113 0 0.00 84 23 21.50 FLG 0 genome.wustl.edu 37 1 152286834 152286834 + Missense_Mutation SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 1 152286834 152286834 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.528 p.N176K 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 74 0 0.00 45 8 15.09 FPR3 0 genome.wustl.edu 37 19 52327880 52327880 + Missense_Mutation SNP T T A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 19 52327880 52327880 T A SNP FPR3 ENST00000339223 human ensembl 74_37 +1 known missense c.879 p.F293L 0.974 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR3 HGNC ENSG00000187474 tier1 - - 194 0 0.00 155 35 18.42 GLYATL1 0 genome.wustl.edu 37 11 58711100 58711100 + Missense_Mutation SNP A A G TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 11 58711100 58711100 A G SNP GLYATL1 ENST00000300079 human ensembl 74_37 +1 known missense c.109 p.I37V 0.012 NULL pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC ENSG00000166840 tier1 rs145329553 - 81 0 0.00 67 5 6.94 H2AFY2 0 genome.wustl.edu 37 10 71868928 71868929 + Frame_Shift_Del DEL AA AA - TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 10 71868928 71868929 AA - DEL H2AFY2 ENST00000373255 human ensembl 74_37 +1 known frame_shift_del c.918_919 p.K307fs 0.004:0.997 pfam_Macro_dom,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 tier1 76 0 0.00 80 8 9.09 HEATR6 0 genome.wustl.edu 37 17 58147200 58147200 + Missense_Mutation SNP A A T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 17 58147200 58147200 A T SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known missense c.811 p.F271I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 tier1 - - 95 0 0.00 93 7 7.00 HEPH 0 genome.wustl.edu 37 X 65392220 65392220 + Missense_Mutation SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce X 65392220 65392220 C T SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.353 p.S118F 0.180 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 tier1 - - 31 0 0.00 27 13 32.50 HTR5A 0 genome.wustl.edu 37 7 154862726 154862726 + Silent SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 7 154862726 154862726 C T SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known silent c.117 p.F39 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 tier1 - - 69 0 0.00 49 6 10.91 KMT2D 0 genome.wustl.edu 37 12 49425038 49425038 + Nonsense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 12 49425038 49425038 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.13450 p.R4484* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 96 0 0.00 90 20 18.18 KPNB1 0 genome.wustl.edu 37 17 45750505 45750505 + Nonsense_Mutation SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 17 45750505 45750505 C T SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known nonsense c.1669 p.R557* 0.998 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 tier1 - - 63 0 0.00 53 12 18.18 KRT77 0 genome.wustl.edu 37 12 53091600 53091600 + Missense_Mutation SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 12 53091600 53091600 G T SNP KRT77 ENST00000553168 human ensembl 74_37 -1 known missense c.709 p.Q237K 0.253 NULL NULL - no_errors KRT77 HGNC ENSG00000189182 tier1 - - 332 0 0.00 262 67 20.36 LAMA1 0 genome.wustl.edu 37 18 7080031 7080031 + Silent SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 18 7080031 7080031 G T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.288 p.P96 0.993 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 67 0 0.00 67 12 15.19 LCA5 0 genome.wustl.edu 37 6 80203350 80203350 + Nonsense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 6 80203350 80203350 G A SNP LCA5 ENST00000369846 human ensembl 74_37 -1 known nonsense c.838 p.R280* 0.005 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 tier1 - - 54 0 0.00 47 12 20.34 LHX3 0 genome.wustl.edu 37 9 139092476 139092476 + Missense_Mutation SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 9 139092476 139092476 C T SNP LHX3 ENST00000371746 human ensembl 74_37 -1 known missense c.218 p.R73H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX3 HGNC ENSG00000107187 tier1 - - 38 0 0.00 24 6 20.00 LRRN3 0 genome.wustl.edu 37 7 110763639 110763639 + Missense_Mutation SNP C C A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 7 110763639 110763639 C A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.811 p.P271T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 tier1 - - 71 0 0.00 72 13 15.29 LTBP4 0 genome.wustl.edu 37 19 41128550 41128550 + Missense_Mutation SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 19 41128550 41128550 G T SNP LTBP4 ENST00000308370 human ensembl 74_37 +1 known missense c.3660 p.Q1220H 1.000 pfam_TB_dom,superfamily_TB_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 tier1 - - 32 0 0.00 25 4 13.79 MBD6 0 genome.wustl.edu 37 12 57922320 57922320 + Missense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 12 57922320 57922320 G A SNP MBD6 ENST00000355673 human ensembl 74_37 +1 known missense c.2797 p.G933R 0.958 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 tier1 - - 69 0 0.00 62 5 7.46 MEOX1 0 genome.wustl.edu 37 17 41738558 41738558 + Missense_Mutation SNP T T A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 17 41738558 41738558 T A SNP MEOX1 ENST00000318579 human ensembl 74_37 -1 known missense c.345 p.E115D 0.955 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX1 HGNC ENSG00000005102 tier1 - - 82 0 0.00 85 12 12.24 MLLT3 0 genome.wustl.edu 37 9 20414331 20414331 + Silent SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 9 20414331 20414331 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.513 p.S171 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 tier1 rs10964556 - 58 0 0.00 67 6 8.22 MMRN1 0 genome.wustl.edu 37 4 90816173 90816173 + Silent SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 4 90816173 90816173 C T SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known silent c.51 p.G17 0.089 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 tier1 - - 65 0 0.00 121 11 8.27 MRGPRX4 0 genome.wustl.edu 37 11 18195433 18195433 + Silent SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 11 18195433 18195433 G A SNP MRGPRX4 ENST00000314254 human ensembl 74_37 +1 known silent c.630 p.P210 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 tier1 - - 64 0 0.00 54 14 20.59 MST1L 0 genome.wustl.edu 37 1 17083778 17083778 + RNA SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 1 17083778 17083778 C T SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MST1L HGNC ENSG00000186715 tier1 rs28455793 - 18 0 0.00 13 5 27.78 MYH2 0 genome.wustl.edu 37 17 10440988 10440988 + Silent SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 17 10440988 10440988 G A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known silent c.1581 p.I527 0.151 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 141 0 0.00 134 23 14.65 NDNF 0 genome.wustl.edu 37 4 121957512 121957512 + Silent SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 4 121957512 121957512 G T SNP NDNF ENST00000379692 human ensembl 74_37 -1 known silent c.1614 p.G538 0.922 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 tier1 - - 135 0 0.00 134 10 6.94 NOC2L 0 genome.wustl.edu 37 1 891584 891584 + Silent SNP A A C TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 1 891584 891584 A C SNP NOC2L ENST00000327044 human ensembl 74_37 -1 known silent c.498 p.T166 0.086 NULL pfam_Noc2,superfamily_ARM-type_fold - no_errors NOC2L HGNC ENSG00000188976 tier1 - - 35 0 0.00 16 10 38.46 NRXN3 0 genome.wustl.edu 37 14 79423633 79423633 + Missense_Mutation SNP A A G TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 14 79423633 79423633 A G SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.2291 p.E764G 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 105 0 0.00 70 15 17.65 OR5F1 0 genome.wustl.edu 37 11 55761365 55761365 + Missense_Mutation SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 11 55761365 55761365 G T SNP OR5F1 ENST00000278409 human ensembl 74_37 -1 known missense c.737 p.T246K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5F1 HGNC ENSG00000149133 tier1 - - 56 0 0.00 65 6 8.45 OSR1 0 genome.wustl.edu 37 2 19552930 19552930 + Missense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 2 19552930 19552930 G A SNP OSR1 ENST00000272223 human ensembl 74_37 -1 known missense c.637 p.R213W 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR1 HGNC ENSG00000143867 tier1 - - 61 0 0.00 41 6 12.77 PCDH11X 0 genome.wustl.edu 37 X 91132451 91132451 + Silent SNP C C A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce X 91132451 91132451 C A SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known silent c.1212 p.I404 0.934 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 tier1 - - 74 0 0.00 63 14 18.18 PCF11 0 genome.wustl.edu 37 11 82880538 82880538 + Missense_Mutation SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 11 82880538 82880538 G T SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.3161 p.G1054V 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 33 0 0.00 41 4 8.89 PCNX 0 genome.wustl.edu 37 14 71568858 71568858 + Missense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 14 71568858 71568858 G A SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.5741 p.R1914Q 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 tier1 - - 101 0 0.00 116 19 14.07 PDIA4 0 genome.wustl.edu 37 7 148716290 148716291 + Splice_Site INS - - T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 7 148716290 148716291 - T INS PDIA4 ENST00000286091 human ensembl 74_37 -1 known splice_site_ins c.270-2_270-1 e3-1 1.000:1.000 - - - no_errors PDIA4 HGNC ENSG00000155660 tier1 68 0 0.00 82 9 9.89 PIGR 0 genome.wustl.edu 37 1 207105025 207105025 + Nonsense_Mutation SNP C C A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 1 207105025 207105025 C A SNP PIGR ENST00000356495 human ensembl 74_37 -1 known nonsense c.2131 p.G711* 0.431 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 tier1 - - 44 0 0.00 50 11 18.03 PKHD1 0 genome.wustl.edu 37 6 51914991 51914991 + Missense_Mutation SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 6 51914991 51914991 G T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.2243 p.A748E 0.150 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 37 0 0.00 43 6 12.24 PPIG 0 genome.wustl.edu 37 2 170493029 170493029 + Missense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 2 170493029 170493029 G A SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.1261 p.E421K 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 tier1 - - 55 0 0.00 33 21 38.89 PRAMEF10 0 genome.wustl.edu 37 1 12954984 12954984 + Missense_Mutation SNP A A C TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 1 12954984 12954984 A C SNP PRAMEF10 ENST00000235347 human ensembl 74_37 -1 known missense c.299 p.L100R 0.067 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 tier1 - - 154 0 0.00 124 17 12.06 PRRT2 0 genome.wustl.edu 37 16 29825190 29825190 + Missense_Mutation SNP C C A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 16 29825190 29825190 C A SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known missense c.815 p.A272D 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 tier1 - - 77 0 0.00 48 9 15.79 PTPN11 0 genome.wustl.edu 37 12 112926888 112926888 + Missense_Mutation SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 12 112926888 112926888 G T SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.1508 p.G503V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 tier1 - - 166 0 0.00 125 19 13.10 PTPRZ1 0 genome.wustl.edu 37 7 121608131 121608131 + Missense_Mutation SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 7 121608131 121608131 G T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.251 p.G84V 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 111 0 0.00 126 14 10.00 PXDN 0 genome.wustl.edu 37 2 1670168 1670168 + Missense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 2 1670168 1670168 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1109 p.P370L 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 55 0 0.00 35 7 16.67 RHO 0 genome.wustl.edu 37 3 129251504 129251504 + Missense_Mutation SNP C C G TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 3 129251504 129251504 C G SNP RHO ENST00000296271 human ensembl 74_37 +1 known missense c.825 p.I275M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin - no_errors RHO HGNC ENSG00000163914 tier1 - - 69 0 0.00 35 10 22.22 RHOA 0 genome.wustl.edu 37 3 49413009 49413009 + Missense_Mutation SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 3 49413009 49413009 C T SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.14 p.R5Q 1.000 superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 tier1 rs11552758 - 136 0 0.00 80 16 16.67 RPS6KA6 0 genome.wustl.edu 37 X 83319382 83319382 + Missense_Mutation SNP A A G TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce X 83319382 83319382 A G SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.2141 p.L714P 1.000 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 tier1 - - 26 0 0.00 13 10 43.48 SACS 0 genome.wustl.edu 37 13 23912386 23912386 + Nonsense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 13 23912386 23912386 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known nonsense c.5629 p.R1877* 0.504 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 78 0 0.00 119 10 7.75 SART1 0 genome.wustl.edu 37 11 65732638 65732638 + Missense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 11 65732638 65732638 G A SNP SART1 ENST00000312397 human ensembl 74_37 +1 known missense c.503 p.R168Q 0.970 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 33 0 0.00 18 2 10.00 SETBP1 0 genome.wustl.edu 37 18 42281519 42281519 + Missense_Mutation SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 18 42281519 42281519 G T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.208 p.D70Y 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 60 0 0.00 72 14 16.28 SETD3 0 genome.wustl.edu 37 14 99927670 99927670 + Silent SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 14 99927670 99927670 G A SNP SETD3 ENST00000331768 human ensembl 74_37 -1 known silent c.204 p.S68 0.958 NULL pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 tier1 - - 114 0 0.00 90 11 10.89 SIRPB1 0 genome.wustl.edu 37 20 1552398 1552398 + Missense_Mutation SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 20 1552398 1552398 C T SNP SIRPB1 ENST00000381605 human ensembl 74_37 -1 known missense c.719 p.R240H 0.887 pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPB1 HGNC ENSG00000101307 tier1 - - 60 0 0.00 47 14 22.95 SLIT3 0 genome.wustl.edu 37 5 168233469 168233469 + Missense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 5 168233469 168233469 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.917 p.P306L 1.000 pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 76 0 0.00 54 8 12.90 SNORD116-8 0 genome.wustl.edu 37 15 25315642 25315642 + RNA SNP T T C TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 15 25315642 25315642 T C SNP SNORD116-8 ENST00000384365 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-8 HGNC ENSG00000207093 tier1 - - 231 0 0.00 187 36 16.14 STK31 0 genome.wustl.edu 37 7 23821101 23821101 + Missense_Mutation SNP A A G TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 7 23821101 23821101 A G SNP STK31 ENST00000355870 human ensembl 74_37 +1 known missense c.2029 p.N677D 0.021 NULL pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom - no_errors STK31 HGNC ENSG00000196335 tier1 - - 48 0 0.00 51 8 13.56 TGFBR2 0 genome.wustl.edu 37 3 30713816 30713816 + Missense_Mutation SNP A A G TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 3 30713816 30713816 A G SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1216 p.K406E 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 - - 170 0 0.00 132 64 32.49 TPTE 0 genome.wustl.edu 37 21 10907033 10907033 + Missense_Mutation SNP G G T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 21 10907033 10907033 G T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.1528 p.L510I 0.998 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 66 0 0.00 77 5 6.10 TRMT61B 0 genome.wustl.edu 37 2 29092561 29092562 + Frame_Shift_Ins INS - - C TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 2 29092561 29092562 - C INS TRMT61B ENST00000306108 human ensembl 74_37 -1 known frame_shift_ins c.583_582 p.K194fs 0.069:0.045 pfam_tRNA_MeTrfase_GCD14 pfam_tRNA_MeTrfase_GCD14,pfam_PCMT - no_errors TRMT61B HGNC ENSG00000171103 tier1 115 0 0.00 81 17 17.35 TTN 0 genome.wustl.edu 37 2 179596487 179596487 + Silent SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 2 179596487 179596487 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.13383 p.G4461 0.002 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 103 0 0.00 72 31 30.10 TTPAL 0 genome.wustl.edu 37 20 43108870 43108870 + Silent SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 20 43108870 43108870 C T SNP TTPAL ENST00000262605 human ensembl 74_37 +1 known silent c.231 p.D77 0.674 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPAL HGNC ENSG00000124120 tier1 - - 23 0 0.00 16 6 27.27 TUBA4A 0 genome.wustl.edu 37 2 220116796 220116798 + In_Frame_Del DEL AGA AGA - TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 2 220116796 220116798 AGA - DEL TUBA4A ENST00000248437 human ensembl 74_37 -1 known in_frame_del c.160_158 p.F53in_frame_del 1.000:1.000:1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA4A HGNC ENSG00000127824 tier1 40 0 0.00 19 8 29.63 TYR 0 genome.wustl.edu 37 11 88924507 88924507 + Missense_Mutation SNP A A C TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 11 88924507 88924507 A C SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.957 p.E319D 0.998 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 tier1 - - 128 0 0.00 136 25 15.53 UBE4A 0 genome.wustl.edu 37 11 118243366 118243366 + Missense_Mutation SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 11 118243366 118243366 G A SNP UBE4A ENST00000431736 human ensembl 74_37 +1 known missense c.706 p.A236T 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 tier1 - - 172 0 0.00 156 16 9.30 USP6 0 genome.wustl.edu 37 17 5040981 5040981 + Silent SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 17 5040981 5040981 G A SNP USP6 ENST00000250066 human ensembl 74_37 +1 known silent c.861 p.V287 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 tier1 - - 215 0 0.00 178 28 13.46 ZFAT 0 genome.wustl.edu 37 8 135524778 135524778 + Missense_Mutation SNP C C T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 8 135524778 135524778 C T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.3301 p.V1101I 0.260 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 - - 155 0 0.00 183 25 12.02 ZFAT 0 genome.wustl.edu 37 8 135669961 135669961 + Missense_Mutation SNP C C A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 8 135669961 135669961 C A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.39 p.M13I 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 - - 67 0 0.00 66 7 9.59 ZFP42 0 genome.wustl.edu 37 4 188924767 188924767 + Missense_Mutation SNP A A T TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 4 188924767 188924767 A T SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.806 p.H269L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 tier1 - - 41 0 0.00 45 11 19.64 ZNF425 0 genome.wustl.edu 37 7 148801757 148801757 + Silent SNP G G A TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 7 148801757 148801757 G A SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known silent c.1206 p.D402 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 tier1 - - 110 0 0.00 96 9 8.57 ZNF461 0 genome.wustl.edu 37 19 37129850 37129850 + Missense_Mutation SNP T T C TCGA-R5-A804-01A-11D-A364-08 TCGA-R5-A804-10A-01D-A362-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d8e93fce-5fad-4311-be4c-9b739b109ce4 a52c9c5b-86a3-4d4b-bd43-ed8d6f9d56ce 19 37129850 37129850 T C SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known missense c.1397 p.E466G 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF461 HGNC ENSG00000197808 tier1 - - 46 0 0.00 44 4 8.33