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 ABCA13 0 genome.wustl.edu 37 7 48308594 48308594 + Missense_Mutation SNP C C A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 7 48308594 48308594 C A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.2023 p.P675T 0.993 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 56 0 0.00 30 12 28.57 ACAP2 0 genome.wustl.edu 37 3 195013077 195013077 + Missense_Mutation SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 3 195013077 195013077 C T SNP ACAP2 ENST00000326793 human ensembl 74_37 -1 known missense c.1870 p.E624K 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 tier1 - - 39 0 0.00 40 7 14.89 ADCK1 0 genome.wustl.edu 37 14 78392246 78392246 + Missense_Mutation SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 14 78392246 78392246 C T SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known missense c.1148 p.A383V 1.000 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 tier1 - - 60 0 0.00 48 4 7.69 AGBL5 0 genome.wustl.edu 37 2 27280243 27280243 + Silent SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 27280243 27280243 G A SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known silent c.1608 p.G536 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 tier1 - - 46 0 0.00 30 7 18.92 AMER3 0 genome.wustl.edu 37 2 131520725 131520725 + Silent SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 131520725 131520725 C T SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known silent c.1080 p.S360 0.043 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 30 0 0.00 20 3 13.04 ANKFN1 0 genome.wustl.edu 37 17 54450102 54450102 + Missense_Mutation SNP G G C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 17 54450102 54450102 G C SNP ANKFN1 ENST00000318698 human ensembl 74_37 +1 known missense c.706 p.G236R 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 tier1 - - 57 0 0.00 26 15 36.59 ANKRD26P1 0 genome.wustl.edu 37 16 46534659 46534659 + RNA SNP T T A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 16 46534659 46534659 T A SNP ANKRD26P1 ENST00000566201 human ensembl 74_37 -1 known rna NULL NULL 0.970 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 tier1 - - 76 0 0.00 28 7 20.00 ANKRD32 0 genome.wustl.edu 37 5 94022349 94022349 + Missense_Mutation SNP G G C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 5 94022349 94022349 G C SNP ANKRD32 ENST00000265140 human ensembl 74_37 +1 known missense c.2047 p.E683Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 tier1 - - 39 0 0.00 28 4 12.50 ARAF 0 genome.wustl.edu 37 X 47424691 47424691 + Missense_Mutation SNP C C A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e X 47424691 47424691 C A SNP ARAF ENST00000377045 human ensembl 74_37 +1 known missense c.499 p.Q167K 0.958 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 tier1 - - 48 0 0.00 24 5 17.24 ARL6IP4 0 genome.wustl.edu 37 12 123466182 123466184 + In_Frame_Del DEL CTC CTC - TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 12 123466182 123466184 CTC - DEL ARL6IP4 ENST00000315580 human ensembl 74_37 +1 known in_frame_del c.594_596 p.S202in_frame_del 0.985:0.990:1.000 pfam_Nucl_RNA-splicing_assoc_SR-25 pfam_Nucl_RNA-splicing_assoc_SR-25 - no_errors ARL6IP4 HGNC ENSG00000182196 tier1 21 0 0.00 6 2 25.00 ARMC8 0 genome.wustl.edu 37 3 137991875 137991875 + Silent SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 3 137991875 137991875 C T SNP ARMC8 ENST00000469044 human ensembl 74_37 +1 known silent c.1546 p.L516 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 tier1 - - 45 0 0.00 26 8 23.53 ASTE1 0 genome.wustl.edu 37 3 130732925 130732925 + Silent SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 3 130732925 130732925 A G SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known silent c.2016 p.H672 0.000 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 17 0 0.00 11 5 31.25 ATP4A 0 genome.wustl.edu 37 19 36053377 36053377 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 19 36053377 36053377 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.380 p.A127V 0.997 smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 62 0 0.00 72 4 5.26 BHMT 0 genome.wustl.edu 37 5 78426767 78426767 + Missense_Mutation SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 5 78426767 78426767 A G SNP BHMT ENST00000274353 human ensembl 74_37 +1 known missense c.1049 p.E350G 1.000 superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 tier1 - - 42 0 0.00 30 4 11.76 BMP3 0 genome.wustl.edu 37 4 81967471 81967471 + Missense_Mutation SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 4 81967471 81967471 A G SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known missense c.896 p.N299S 1.000 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 24 0 0.00 26 3 10.34 BMPR1B 0 genome.wustl.edu 37 4 96070005 96070005 + Missense_Mutation SNP T T G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 4 96070005 96070005 T G SNP BMPR1B ENST00000440890 human ensembl 74_37 +1 known missense c.1273 p.Y425D 0.999 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 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 tier1 - - 99 0 0.00 65 9 12.16 C11orf24 0 genome.wustl.edu 37 11 68030003 68030003 + Missense_Mutation SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 11 68030003 68030003 T C SNP C11orf24 ENST00000304271 human ensembl 74_37 -1 known missense c.460 p.M154V 0.003 NULL NULL - no_errors C11orf24 HGNC ENSG00000171067 tier1 - - 146 0 0.00 72 23 24.21 C12orf50 0 genome.wustl.edu 37 12 88380170 88380170 + Missense_Mutation SNP T T G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 12 88380170 88380170 T G SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known missense c.841 p.K281Q 1.000 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 tier1 - - 74 0 0.00 47 4 7.84 C12orf55 0 genome.wustl.edu 37 12 97051988 97051988 + Splice_Site SNP G G C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 12 97051988 97051988 G C SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative splice_site c.5325-1 e38-1 1.000 - - - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 32 0 0.00 23 11 32.35 C16orf71 0 genome.wustl.edu 37 16 4793092 4793093 + Frame_Shift_Ins INS - - A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 16 4793092 4793093 - A INS C16orf71 ENST00000299320 human ensembl 74_37 +1 known frame_shift_ins c.832_833 p.E279fs 0.002:0.000 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 tier1 30 0 0.00 29 11 27.50 C5orf24 0 genome.wustl.edu 37 5 134190864 134190864 + Missense_Mutation SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 5 134190864 134190864 C T SNP C5orf24 ENST00000338051 human ensembl 74_37 +1 known missense c.274 p.R92W 1.000 NULL NULL - no_errors C5orf24 HGNC ENSG00000181904 tier1 - - 35 0 0.00 16 4 20.00 C6orf106 0 genome.wustl.edu 37 6 34574629 34574629 + Silent SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 6 34574629 34574629 C T SNP C6orf106 ENST00000374023 human ensembl 74_37 -1 known silent c.564 p.T188 0.999 NULL superfamily_UBA-like - no_errors C6orf106 HGNC ENSG00000196821 79 0 0.00 45 3 6.25 CABIN1 0 genome.wustl.edu 37 22 24483514 24483514 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 22 24483514 24483514 G A SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.3373 p.V1125I 0.996 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 tier1 rs148592192 - 51 0 0.00 15 5 25.00 CACNA1C 0 genome.wustl.edu 37 12 2676738 2676738 + Missense_Mutation SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 12 2676738 2676738 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.1673 p.T558M 0.990 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 22 0 0.00 10 6 37.50 CAPN3 0 genome.wustl.edu 37 15 42703106 42703106 + Missense_Mutation SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 15 42703106 42703106 A G SNP CAPN3 ENST00000397163 human ensembl 74_37 +1 known missense c.2288 p.Y763C 0.999 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 tier1 - - 54 0 0.00 43 13 23.21 CBR3-AS1 0 genome.wustl.edu 37 21 37504209 37504210 + RNA INS - - AAAT TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 21 37504209 37504210 0 AAAT INS CBR3-AS1 ENST00000413862 human ensembl 74_37 -1 known rna NULL NULL 0.997:0.993 - - - no_errors CBR3-AS1 HGNC ENSG00000236830 8 0 0.00 5 2 28.57 CCDC47 0 genome.wustl.edu 37 17 61831840 61831840 + Silent SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 17 61831840 61831840 T C SNP CCDC47 ENST00000225726 human ensembl 74_37 -1 known silent c.987 p.E329 1.000 pfam_DUF1682 pfam_DUF1682 - no_errors CCDC47 HGNC ENSG00000108588 14 0 0.00 6 3 33.33 CCDC6 0 genome.wustl.edu 37 10 61552831 61552831 + Missense_Mutation SNP G G C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 10 61552831 61552831 G C SNP CCDC6 ENST00000263102 human ensembl 74_37 -1 known missense c.1269 p.F423L 1.000 NULL pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 tier1 - - 106 0 0.00 102 7 6.42 CCDC80 0 genome.wustl.edu 37 3 112349104 112349104 + Missense_Mutation SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 3 112349104 112349104 G T SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.1891 p.P631T 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 51 0 0.00 42 3 6.67 CDH11 0 genome.wustl.edu 37 16 64981513 64981513 + Missense_Mutation SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 16 64981513 64981513 T C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.2384 p.D795G 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 59 0 0.00 31 11 26.19 CEP128 0 genome.wustl.edu 37 14 81362115 81362115 + Missense_Mutation SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 14 81362115 81362115 T C SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.592 p.R198G 1.000 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 tier1 - - 79 0 0.00 58 4 6.45 CEP192 0 genome.wustl.edu 37 18 13030462 13030462 + Splice_Site SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 18 13030462 13030462 A G SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known splice_site c.1391-2 e10-2 1.000 - - - no_errors CEP192 HGNC ENSG00000101639 tier1 - - 42 0 0.00 33 6 15.38 CIB4 0 genome.wustl.edu 37 2 26846333 26846333 + RNA SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 26846333 26846333 C T SNP CIB4 ENST00000405346 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CIB4 HGNC ENSG00000157884 tier1 - - 35 0 0.00 23 4 14.81 CLCA3P 0 genome.wustl.edu 37 1 87101709 87101709 + RNA SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 87101709 87101709 G T SNP CLCA3P ENST00000284054 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CLCA3P HGNC ENSG00000153923 tier1 - - 62 0 0.00 17 3 15.00 CNTN2 0 genome.wustl.edu 37 1 205042860 205042860 + Silent SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 205042860 205042860 G T SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known silent c.3090 p.A1030 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 tier1 - - 28 0 0.00 21 9 30.00 CNTNAP5 0 genome.wustl.edu 37 2 125192188 125192188 + Missense_Mutation SNP C C A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 125192188 125192188 C A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.657 p.F219L 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 39 0 0.00 25 6 19.35 CREBBP 0 genome.wustl.edu 37 16 3820633 3820633 + Missense_Mutation SNP C C A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 16 3820633 3820633 C A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.2818 p.A940S 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 41 0 0.00 27 2 6.90 CROCCP2 0 genome.wustl.edu 37 1 16952971 16952971 + RNA SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 16952971 16952971 G A SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.805 - - - no_errors CROCCP2 HGNC ENSG00000215908 tier1 - - 119 0 0.00 111 7 5.93 CTAGE5 0 genome.wustl.edu 37 14 39777653 39777653 + Missense_Mutation SNP A A T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 14 39777653 39777653 A T SNP CTAGE5 ENST00000396158 human ensembl 74_37 +1 known missense c.1070 p.E357V 0.589 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 tier1 - - 60 0 0.00 23 13 36.11 CXXC4 0 genome.wustl.edu 37 4 105412091 105412091 + Missense_Mutation SNP G G C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 4 105412091 105412091 G C SNP CXXC4 ENST00000394767 human ensembl 74_37 -1 known missense c.869 p.S290C 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC4 HGNC ENSG00000168772 tier1 - - 67 0 0.00 50 4 7.41 DET1 0 genome.wustl.edu 37 15 89074239 89074239 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 15 89074239 89074239 G A SNP DET1 ENST00000444300 human ensembl 74_37 -1 known missense c.731 p.S244F 1.000 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 tier1 - - 93 0 0.00 54 27 33.33 DLG2 0 genome.wustl.edu 37 11 83962299 83962299 + Silent SNP A A T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 11 83962299 83962299 A T SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known silent c.555 p.T185 0.999 pfam_MAGUK_PEST_N,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 tier1 - - 20 0 0.00 0 5 100.00 DPYD 0 genome.wustl.edu 37 1 97658623 97658623 + Splice_Site SNP A A C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 97658623 97658623 A C SNP DPYD ENST00000370192 human ensembl 74_37 -1 known splice_site c.2622+2 e20+2 1.000 - - - no_errors DPYD HGNC ENSG00000188641 tier1 - - 66 0 0.00 71 9 11.25 E2F5 0 genome.wustl.edu 37 8 86126557 86126557 + RNA SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 8 86126557 86126557 T C SNP E2F5 ENST00000519128 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors E2F5 HGNC ENSG00000133740 tier1 - - 46 0 0.00 26 17 39.53 EGFR 0 genome.wustl.edu 37 7 55273092 55273092 + Missense_Mutation SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 7 55273092 55273092 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.3415 p.L1139F 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 tier1 - - 25 0 0.00 22 7 24.14 ENSG00000267075 0 genome.wustl.edu 37 17 20451635 20451635 + RNA SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 17 20451635 20451635 G A SNP ENSG00000267075 ENST00000591705 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors RP11-434D2.3 Clone_based_vega_gene ENSG00000267075 tier1 - - 28 0 0.00 30 5 14.29 F5 0 genome.wustl.edu 37 1 169497273 169497273 + Missense_Mutation SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 169497273 169497273 T C SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.5479 p.R1827G 1.000 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 40 0 0.00 34 3 8.11 FAM186A 0 genome.wustl.edu 37 12 50745671 50745671 + Silent SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 12 50745671 50745671 T C SNP FAM186A ENST00000327337 human ensembl 74_37 -1 known silent c.4944 p.G1648 0.000 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 107 0 0.00 89 6 6.32 FAM208A 0 genome.wustl.edu 37 3 56703801 56703801 + Missense_Mutation SNP T T A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 3 56703801 56703801 T A SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.662 p.Y221F 1.000 pfam_DUF3715 pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 tier1 - - 54 0 0.00 23 15 39.47 FBXL4 0 genome.wustl.edu 37 6 99374651 99374651 + Missense_Mutation SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 6 99374651 99374651 A G SNP FBXL4 ENST00000229971 human ensembl 74_37 -1 known missense c.214 p.S72P 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL4 HGNC ENSG00000112234 tier1 - - 49 0 0.00 29 5 14.71 FLT1 0 genome.wustl.edu 37 13 28942717 28942719 + In_Frame_Del DEL ATG ATG - TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 13 28942717 28942719 ATG - DEL FLT1 ENST00000541932 human ensembl 74_37 -1 known in_frame_del c.2200_2198 p.S733in_frame_del 0.078:0.077:0.076 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 tier1 33 0 0.00 13 3 18.75 FMN2 0 genome.wustl.edu 37 1 240255581 240255581 + Missense_Mutation SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 240255581 240255581 G T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.172 p.G58C 0.962 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 22 0 0.00 19 9 32.14 FNIP1 0 genome.wustl.edu 37 5 131008447 131008447 + Missense_Mutation SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 5 131008447 131008447 T C SNP FNIP1 ENST00000510461 human ensembl 74_37 -1 known missense c.1690 p.M564V 1.000 NULL NULL - no_errors FNIP1 HGNC ENSG00000217128 tier1 - - 103 0 0.00 76 28 26.92 HDAC4 0 genome.wustl.edu 37 2 240036937 240036937 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 240036937 240036937 G A SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.1588 p.R530C 0.966 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 39 0 0.00 27 4 12.90 HERC2P3 0 genome.wustl.edu 37 15 20644266 20644266 + RNA SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 15 20644266 20644266 T C SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.972 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 - - 220 0 0.00 170 16 8.56 HIST4H4 0 genome.wustl.edu 37 12 14923843 14923844 + Frame_Shift_Ins INS - - G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 12 14923843 14923844 - G INS HIST4H4 ENST00000358064 human ensembl 74_37 -1 known frame_shift_ins c.176_175 p.L59fs 1.000:1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST4H4 HGNC ENSG00000197837 tier1 63 0 0.00 45 5 10.00 HOXB7 0 genome.wustl.edu 37 17 46688090 46688090 + Frame_Shift_Del DEL C C - TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 17 46688090 46688090 C - DEL HOXB7 ENST00000239165 human ensembl 74_37 -1 known frame_shift_del c.191 p.G64fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB7 HGNC ENSG00000260027 tier1 26 0 0.00 11 3 21.43 HRNR 0 genome.wustl.edu 37 1 152187118 152187118 + Silent SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 152187118 152187118 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.6987 p.G2329 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 50 0 0.00 62 13 17.33 ICAM5 0 genome.wustl.edu 37 19 10403909 10403909 + Silent SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 19 10403909 10403909 G A SNP ICAM5 ENST00000221980 human ensembl 74_37 +1 known silent c.1452 p.T484 0.487 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM5 HGNC ENSG00000105376 tier1 - - 45 0 0.00 31 5 13.89 IKBKAP 0 genome.wustl.edu 37 9 111659307 111659307 + Missense_Mutation SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 9 111659307 111659307 G T SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.2513 p.S838Y 0.192 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 93 0 0.00 46 3 6.12 INF2 0 genome.wustl.edu 37 14 105173657 105173657 + Frame_Shift_Del DEL C C - TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 14 105173657 105173657 C - DEL INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_del c.1053 p.L353fs 0.004 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 tier1 50 0 0.00 31 2 6.06 IPO11 0 genome.wustl.edu 37 5 61826585 61826585 + Missense_Mutation SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 5 61826585 61826585 A G SNP IPO11 ENST00000409296 human ensembl 74_37 +1 known missense c.2182 p.I728V 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 tier1 - - 80 0 0.00 30 16 34.78 IREB2 0 genome.wustl.edu 37 15 78730685 78730685 + Silent SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 15 78730685 78730685 C T SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known silent c.6 p.D2 1.000 NULL pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 82 0 0.00 62 4 6.06 ITGB1BP1 0 genome.wustl.edu 37 2 9548313 9548313 + Missense_Mutation SNP C C A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 9548313 9548313 C A SNP ITGB1BP1 ENST00000355346 human ensembl 74_37 -1 known missense c.310 p.V104F 1.000 pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom pfam_Integrin-bd_ICAP-1,smart_PTB/PI_dom - no_errors ITGB1BP1 HGNC ENSG00000119185 tier1 - - 50 0 0.00 40 4 9.09 ITGB6 0 genome.wustl.edu 37 2 161030646 161030646 + Missense_Mutation SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 161030646 161030646 T C SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known missense c.598 p.I200V 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 tier1 - - 27 0 0.00 31 9 22.50 IVNS1ABP 0 genome.wustl.edu 37 1 185267261 185267261 + Missense_Mutation SNP C C A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 185267261 185267261 C A SNP IVNS1ABP ENST00000367498 human ensembl 74_37 -1 known missense c.1835 p.G612V 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IVNS1ABP HGNC ENSG00000116679 44 0 0.00 30 2 6.25 KCNB2 0 genome.wustl.edu 37 8 73849588 73849588 + Silent SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 8 73849588 73849588 G A SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known silent c.1998 p.T666 0.000 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 tier1 - - 24 0 0.00 7 4 36.36 KCNH1 0 genome.wustl.edu 37 1 211093142 211093142 + Silent SNP C C G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 211093142 211093142 C G SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known silent c.1302 p.G434 0.990 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 tier1 - - 98 0 0.00 65 10 13.33 KCNS2 0 genome.wustl.edu 37 8 99441485 99441485 + Silent SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 8 99441485 99441485 C T SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known silent c.1278 p.A426 0.993 NULL pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 12 0 0.00 7 3 30.00 KIAA0125 0 genome.wustl.edu 37 14 106391060 106391060 + RNA SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 14 106391060 106391060 G A SNP KIAA0125 ENST00000482999 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors KIAA0125 HGNC ENSG00000226777 tier1 - - 113 0 0.00 61 32 34.41 KIAA1210 0 genome.wustl.edu 37 X 118257580 118257580 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e X 118257580 118257580 G A SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.446 p.S149F 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 tier1 - - 22 0 0.00 17 5 22.73 KLC2 0 genome.wustl.edu 37 11 66033477 66033477 + Missense_Mutation SNP G G C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 11 66033477 66033477 G C SNP KLC2 ENST00000316924 human ensembl 74_37 +1 known missense c.1596 p.W532C 1.000 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 30 0 0.00 20 2 9.09 KRT6A 0 genome.wustl.edu 37 12 52882150 52882150 + Silent SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 12 52882150 52882150 G T SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known silent c.1386 p.I462 0.647 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 tier1 - - 84 0 0.00 73 13 15.12 LAMA3 0 genome.wustl.edu 37 18 21329508 21329508 + Nonsense_Mutation SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 18 21329508 21329508 G T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known nonsense c.682 p.E228* 1.000 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,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 LAMA3 HGNC ENSG00000053747 tier1 - - 118 0 0.00 59 4 6.35 LCT 0 genome.wustl.edu 37 2 136566569 136566569 + Silent SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 136566569 136566569 C T SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.3348 p.Q1116 0.999 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 tier1 - - 53 0 0.00 22 6 21.43 LGI2 0 genome.wustl.edu 37 4 25019636 25019636 + Missense_Mutation SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 4 25019636 25019636 G T SNP LGI2 ENST00000382114 human ensembl 74_37 -1 known missense c.630 p.S210R 1.000 smart_Cys-rich_flank_reg_C pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC ENSG00000153012 tier1 - - 79 0 0.00 44 12 21.43 LMF2 0 genome.wustl.edu 37 22 50944766 50944766 + Silent SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 22 50944766 50944766 G T SNP LMF2 ENST00000474879 human ensembl 74_37 -1 known silent c.543 p.A181 1.000 pfam_LMF pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 tier1 - - 28 0 0.00 11 3 21.43 LOXHD1 0 genome.wustl.edu 37 18 44063558 44063558 + Silent SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 18 44063558 44063558 G A SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known silent c.6147 p.Y2049 0.057 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 112 0 0.00 73 19 20.65 LRRC34 0 genome.wustl.edu 37 3 169514046 169514046 + Missense_Mutation SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 3 169514046 169514046 G T SNP LRRC34 ENST00000446859 human ensembl 74_37 -1 known missense c.1020 p.N340K 0.007 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC34 HGNC ENSG00000171757 52 0 0.00 38 2 5.00 LRRC6 0 genome.wustl.edu 37 8 133595957 133595957 + Nonsense_Mutation SNP C C A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 8 133595957 133595957 C A SNP LRRC6 ENST00000250173 human ensembl 74_37 -1 known nonsense c.1210 p.E404* 0.040 NULL superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom - no_errors LRRC6 HGNC ENSG00000129295 tier1 - - 55 0 0.00 61 9 12.86 LSM14A 0 genome.wustl.edu 37 19 34710734 34710735 + Frame_Shift_Ins INS - - T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 19 34710734 34710735 - T INS LSM14A ENST00000433627 human ensembl 74_37 +1 known frame_shift_ins c.1088_1089 p.D364fs 1.000:1.000 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14A HGNC ENSG00000257103 tier1 60 0 0.00 41 6 12.77 MACF1 0 genome.wustl.edu 37 1 39951742 39951743 + RNA INS - - A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 39951742 39951743 - A INS MACF1 ENST00000496360 human ensembl 74_37 +1 known rna NULL NULL 0.986:0.084 - - - no_errors MACF1 HGNC ENSG00000127603 tier1 45 0 0.00 71 9 11.25 MDGA1 0 genome.wustl.edu 37 6 37614970 37614970 + Missense_Mutation SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 6 37614970 37614970 G T SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.2034 p.N678K 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 tier1 - - 42 0 0.00 40 4 9.09 MDN1 0 genome.wustl.edu 37 6 90504332 90504333 + Frame_Shift_Del DEL AC AC - TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 6 90504332 90504333 AC - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.518_517 p.V173fs 0.998:1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 31 0 0.00 24 2 7.69 METTL4 0 genome.wustl.edu 37 18 2554941 2554941 + Missense_Mutation SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 18 2554941 2554941 T C SNP METTL4 ENST00000574538 human ensembl 74_37 -1 known missense c.556 p.S186G 0.000 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 tier1 - - 40 0 0.00 37 4 9.76 MPPE1 0 genome.wustl.edu 37 18 11888683 11888683 + Missense_Mutation SNP G G C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 18 11888683 11888683 G C SNP MPPE1 ENST00000588072 human ensembl 74_37 -1 known missense c.554 p.S185C 1.000 NULL pfam_PEstase_dom - no_errors MPPE1 HGNC ENSG00000154889 tier1 - - 36 0 0.00 29 9 23.68 MTUS1 0 genome.wustl.edu 37 8 17532707 17532707 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 8 17532707 17532707 G A SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.2893 p.R965W 1.000 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 tier1 - - 60 0 0.00 51 5 8.93 MYCN 0 genome.wustl.edu 37 2 16085729 16085729 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 16085729 16085729 G A SNP MYCN ENST00000281043 human ensembl 74_37 +1 known missense c.905 p.R302H 0.998 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCN HGNC ENSG00000134323 tier1 rs140581169 - 59 0 0.00 24 8 25.00 MYO10 0 genome.wustl.edu 37 5 16670918 16670918 + Nonsense_Mutation SNP G G C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 5 16670918 16670918 G C SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known nonsense c.5600 p.S1867* 0.999 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 59 0 0.00 33 3 8.33 NBPF6 0 genome.wustl.edu 37 1 108993239 108993239 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 108993239 108993239 G A SNP NBPF6 ENST00000370040 human ensembl 74_37 +1 known missense c.16 p.D6N 0.000 NULL pfam_NBPF_dom - no_errors NBPF6 HGNC ENSG00000186086 tier1 - - 64 0 0.00 52 6 10.34 NCKAP5 0 genome.wustl.edu 37 2 133541313 133541313 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 133541313 133541313 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3071 p.A1024V 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 33 0 0.00 37 3 7.50 NCKIPSD 0 genome.wustl.edu 37 3 48719087 48719087 + Missense_Mutation SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 3 48719087 48719087 G T SNP NCKIPSD ENST00000294129 human ensembl 74_37 -1 known missense c.725 p.T242K 1.000 NULL pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NCKIPSD HGNC ENSG00000213672 44 0 0.00 38 4 9.52 NCOA6 0 genome.wustl.edu 37 20 33330205 33330205 + Silent SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 20 33330205 33330205 T C SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known silent c.3855 p.Q1285 1.000 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 tier1 - - 87 0 0.00 45 7 13.46 NLGN1 0 genome.wustl.edu 37 3 173997346 173997346 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 3 173997346 173997346 G A SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.1675 p.G559S 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 tier1 - - 69 0 0.00 36 14 28.00 NOP58 0 genome.wustl.edu 37 2 203152394 203152394 + Missense_Mutation SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 203152394 203152394 A G SNP NOP58 ENST00000264279 human ensembl 74_37 +1 known missense c.446 p.Y149C 1.000 NULL pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 tier1 - - 95 0 0.00 48 28 36.84 NOTCH2 0 genome.wustl.edu 37 1 120512369 120512369 + Splice_Site SNP T T A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 120512369 120512369 T A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known splice_site c.875-2 e6-2 1.000 - - - no_errors NOTCH2 HGNC ENSG00000134250 tier1 - - 32 0 0.00 97 10 9.35 NOV 0 genome.wustl.edu 37 8 120430329 120430329 + Silent SNP G G C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 8 120430329 120430329 G C SNP NOV ENST00000259526 human ensembl 74_37 +1 known silent c.342 p.G114 0.502 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_Cys_knot,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors NOV HGNC ENSG00000136999 tier1 - - 153 0 0.00 96 8 7.69 NPAS2 0 genome.wustl.edu 37 2 101565927 101565927 + Missense_Mutation SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 101565927 101565927 C T SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.778 p.R260C 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 tier1 - - 32 0 0.00 21 4 16.00 NRXN2 0 genome.wustl.edu 37 11 64435121 64435121 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 11 64435121 64435121 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.1399 p.R467C 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 tier1 rs142409712 - 50 0 0.00 38 8 17.39 NUP160 0 genome.wustl.edu 37 11 47809748 47809748 + Silent SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 11 47809748 47809748 T C SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known silent c.3732 p.E1244 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 35 0 0.00 21 3 12.50 OR4K13 0 genome.wustl.edu 37 14 20502224 20502224 + Nonsense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 14 20502224 20502224 G A SNP OR4K13 ENST00000315693 human ensembl 74_37 -1 known nonsense c.694 p.R232* 0.047 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K13 HGNC ENSG00000176253 tier1 - - 21 0 0.00 18 10 35.71 OSBPL9 0 genome.wustl.edu 37 1 52253066 52253066 + Missense_Mutation SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 52253066 52253066 T C SNP OSBPL9 ENST00000371710 human ensembl 74_37 +1 known missense c.2096 p.I699T 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 tier1 - - 31 0 0.00 14 8 36.36 PARP4 0 genome.wustl.edu 37 13 25021304 25021304 + Silent SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 13 25021304 25021304 C T SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known silent c.3135 p.R1045 0.093 pfscan_VWF_A pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 50 0 0.00 30 3 9.09 PCDH10 0 genome.wustl.edu 37 4 134073819 134073819 + Missense_Mutation SNP C C A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 4 134073819 134073819 C A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2524 p.P842T 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 tier1 - - 44 0 0.00 22 7 24.14 PCDH19 0 genome.wustl.edu 37 X 99662990 99662990 + Silent SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e X 99662990 99662990 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.606 p.S202 0.094 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 tier1 - - 26 0 0.00 27 8 22.86 PCDHB11 0 genome.wustl.edu 37 5 140580848 140580848 + Missense_Mutation SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 5 140580848 140580848 G T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.1501 p.A501S 0.782 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 tier1 - - 151 0 0.00 113 40 25.97 PCIF1 0 genome.wustl.edu 37 20 44573647 44573647 + Silent SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 20 44573647 44573647 C T SNP PCIF1 ENST00000372409 human ensembl 74_37 +1 known silent c.1146 p.I382 1.000 NULL pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PCIF1 HGNC ENSG00000100982 tier1 - - 39 0 0.00 40 8 16.67 PCK2 0 genome.wustl.edu 37 14 24572370 24572370 + Silent SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 14 24572370 24572370 G T SNP PCK2 ENST00000216780 human ensembl 74_37 +1 known silent c.1374 p.G458 0.953 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 tier1 - - 87 0 0.00 97 9 8.49 PDE1B 0 genome.wustl.edu 37 12 54963024 54963024 + Missense_Mutation SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 12 54963024 54963024 C T SNP PDE1B ENST00000243052 human ensembl 74_37 +1 known missense c.284 p.S95L 0.969 pfam_PDEase_N pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 tier1 - - 107 0 0.00 63 11 14.86 PHLDB2 0 genome.wustl.edu 37 3 111603832 111603832 + Missense_Mutation SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 3 111603832 111603832 A G SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.908 p.N303S 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 40 0 0.00 23 5 17.86 PITRM1 0 genome.wustl.edu 37 10 3185729 3185729 + RNA SNP G G C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 10 3185729 3185729 G C SNP PITRM1 ENST00000464395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PITRM1 HGNC ENSG00000107959 tier1 - - 30 0 0.00 7 7 50.00 PITRM1 0 genome.wustl.edu 37 10 3185733 3185733 + RNA SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 10 3185733 3185733 T C SNP PITRM1 ENST00000464395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PITRM1 HGNC ENSG00000107959 tier1 - - 29 0 0.00 8 7 46.67 PITRM1 0 genome.wustl.edu 37 10 3185763 3185764 + RNA INS - - T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 10 3185763 3185764 - T INS PITRM1 ENST00000464395 human ensembl 74_37 -1 known rna NULL NULL 0.013:0.011 - - - no_errors PITRM1 HGNC ENSG00000107959 tier1 26 0 0.00 10 3 23.08 PITRM1 0 genome.wustl.edu 37 10 3197875 3197875 + Missense_Mutation SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 10 3197875 3197875 T C SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known missense c.1529 p.Y510C 0.988 pfam_Peptidase_M16C_assoc,superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 tier1 - - 44 0 0.00 17 6 26.09 PLAGL2 0 genome.wustl.edu 37 20 30784583 30784583 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 20 30784583 30784583 G A SNP PLAGL2 ENST00000246229 human ensembl 74_37 -1 known missense c.1163 p.A388V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 tier1 - - 52 0 0.00 28 6 17.65 PLEKHA8P1 0 genome.wustl.edu 37 12 45568029 45568029 + RNA SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 12 45568029 45568029 T C SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 81 0 0.00 51 5 8.93 POLR2C 0 genome.wustl.edu 37 16 57504037 57504038 + Frame_Shift_Ins INS - - A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 16 57504037 57504038 - A INS POLR2C ENST00000219252 human ensembl 74_37 +1 known frame_shift_ins c.604_605 p.W203fs 1.000:1.000 pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR2C HGNC ENSG00000102978 tier1 92 0 0.00 70 24 25.53 PRAMEF10 0 genome.wustl.edu 37 1 12954510 12954510 + Missense_Mutation SNP T T A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 12954510 12954510 T A SNP PRAMEF10 ENST00000235347 human ensembl 74_37 -1 known missense c.773 p.D258V 0.001 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 tier1 - - 123 0 0.00 152 20 11.63 PRELP 0 genome.wustl.edu 37 1 203453189 203453189 + Missense_Mutation SNP C C A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 203453189 203453189 C A SNP PRELP ENST00000343110 human ensembl 74_37 +1 known missense c.877 p.L293M 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors PRELP HGNC ENSG00000188783 tier1 - - 25 0 0.00 15 12 44.44 PRKD3 0 genome.wustl.edu 37 2 37516571 37516571 + Silent SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 37516571 37516571 T C SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known silent c.645 p.V215 0.620 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 tier1 - - 70 0 0.00 41 8 16.33 PTPRF 0 genome.wustl.edu 37 1 44063676 44063676 + Missense_Mutation SNP G G C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 44063676 44063676 G C SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.2071 p.G691R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 tier1 - - 50 0 0.00 40 25 38.46 RAD21-AS1 0 genome.wustl.edu 37 8 117887052 117887052 + RNA SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 8 117887052 117887052 A G SNP RAD21-AS1 ENST00000521487 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RAD21-AS1 HGNC ENSG00000253327 tier1 - - 56 0 0.00 20 17 45.95 RASGEF1C 0 genome.wustl.edu 37 5 179545653 179545653 + Missense_Mutation SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 5 179545653 179545653 C T SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known missense c.1039 p.G347R 0.999 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 66 0 0.00 52 5 8.77 RBBP4 0 genome.wustl.edu 37 1 33138069 33138069 + Missense_Mutation SNP A A T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 33138069 33138069 A T SNP RBBP4 ENST00000373493 human ensembl 74_37 +1 known missense c.985 p.N329Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP4 HGNC ENSG00000162521 tier1 - - 60 0 0.00 24 6 20.00 RDH13 0 genome.wustl.edu 37 19 55559827 55559827 + Silent SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 19 55559827 55559827 G A SNP RDH13 ENST00000415061 human ensembl 74_37 -1 known silent c.528 p.A176 0.963 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH13 HGNC ENSG00000160439 44 0 0.00 31 2 6.06 RGL3 0 genome.wustl.edu 37 19 11527321 11527321 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 19 11527321 11527321 G A SNP RGL3 ENST00000393423 human ensembl 74_37 -1 known missense c.392 p.A131V 0.001 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 tier1 rs140982044 - 117 0 0.00 90 5 5.26 RGS12 0 genome.wustl.edu 37 4 3418649 3418649 + Missense_Mutation SNP C C A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 4 3418649 3418649 C A SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.2437 p.L813I 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 - - 38 0 0.00 28 5 15.15 RNF43 0 genome.wustl.edu 37 17 56434566 56434566 + Silent SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 17 56434566 56434566 T C SNP RNF43 ENST00000581868 human ensembl 74_37 -1 putative silent c.2190 p.K730 0.002 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 tier1 - - 30 0 0.00 14 6 30.00 RPH3A 0 genome.wustl.edu 37 12 113334573 113334573 + Silent SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 12 113334573 113334573 G A SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known silent c.2073 p.V691 0.679 NULL pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 tier1 - - 31 0 0.00 11 6 35.29 SAFB 0 genome.wustl.edu 37 19 5661536 5661536 + Missense_Mutation SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 19 5661536 5661536 C T SNP SAFB ENST00000588852 human ensembl 74_37 +1 known missense c.1870 p.R624C 0.778 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 tier1 - - 35 0 0.00 26 5 16.13 SCAND3 0 genome.wustl.edu 37 6 28547054 28547054 + Missense_Mutation SNP T T A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 6 28547054 28547054 T A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.563 p.D188V 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 tier1 - - 81 0 0.00 37 19 33.93 SCRN3 0 genome.wustl.edu 37 2 175263171 175263171 + Splice_Site SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 175263171 175263171 G T SNP SCRN3 ENST00000272732 human ensembl 74_37 +1 known splice_site c.159+1 e1+1 1.000 - - - no_errors SCRN3 HGNC ENSG00000144306 tier1 rs147792046 - 60 0 0.00 64 4 5.88 SETD2 0 genome.wustl.edu 37 3 47165570 47165570 + Missense_Mutation SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 3 47165570 47165570 G T SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.556 p.P186T 0.962 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 78 0 0.00 55 4 6.78 SMC5 0 genome.wustl.edu 37 9 72962880 72962880 + Missense_Mutation SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 9 72962880 72962880 A G SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known missense c.2815 p.I939V 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 tier1 - - 56 0 0.00 29 12 29.27 SMPDL3A 0 genome.wustl.edu 37 6 123116827 123116827 + Frame_Shift_Del DEL T T - TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 6 123116827 123116827 T - DEL SMPDL3A ENST00000368440 human ensembl 74_37 +1 known frame_shift_del c.118 p.W41fs 1.000 pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3A HGNC ENSG00000172594 tier1 66 0 0.00 32 2 5.88 SNX6 0 genome.wustl.edu 37 14 35073350 35073350 + Missense_Mutation SNP A A T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 14 35073350 35073350 A T SNP SNX6 ENST00000355110 human ensembl 74_37 -1 known missense c.47 p.L16Q 1.000 NULL pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox - no_errors SNX6 HGNC ENSG00000129515 tier1 - - 27 0 0.00 15 6 28.57 SPPL2B 0 genome.wustl.edu 37 19 2334616 2334616 + RNA SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 19 2334616 2334616 G T SNP SPPL2B ENST00000382189 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPPL2B HGNC ENSG00000005206 tier1 - - 120 0 0.00 51 19 27.14 ST8SIA4 0 genome.wustl.edu 37 5 100222259 100222259 + Silent SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 5 100222259 100222259 C T SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known silent c.291 p.V97 0.998 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 tier1 - - 21 0 0.00 16 5 23.81 TADA1 0 genome.wustl.edu 37 1 166833122 166833123 + Frame_Shift_Del DEL GC GC - TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 1 166833122 166833123 GC - DEL TADA1 ENST00000367874 human ensembl 74_37 -1 known frame_shift_del c.269_268 p.A90fs 1.000:1.000 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 tier1 35 0 0.00 32 2 5.88 TAS2R64P 0 genome.wustl.edu 37 12 11230333 11230333 + RNA SNP T T A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 12 11230333 11230333 T A SNP TAS2R64P ENST00000534866 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TAS2R64P HGNC ENSG00000256274 tier1 - - 96 0 0.00 72 9 11.11 TECPR1 0 genome.wustl.edu 37 7 97847085 97847085 + Silent SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 7 97847085 97847085 G A SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known silent c.3309 p.S1103 0.997 pfam_Beta-propeller_rpt_TECPR,smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 tier1 - - 105 0 0.00 56 4 6.67 TECPR1 0 genome.wustl.edu 37 7 97870204 97870204 + Missense_Mutation SNP C C A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 7 97870204 97870204 C A SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known missense c.892 p.V298L 0.994 smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 18 0 0.00 12 3 20.00 TG 0 genome.wustl.edu 37 8 133899059 133899059 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 8 133899059 133899059 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.1442 p.G481D 0.005 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 53 0 0.00 47 4 7.84 THRA 0 genome.wustl.edu 37 17 38245543 38245543 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 17 38245543 38245543 G A SNP THRA ENST00000264637 human ensembl 74_37 +1 known missense c.1067 p.R356H 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 33 0 0.00 34 3 8.11 TLL1 0 genome.wustl.edu 37 4 166924650 166924650 + Missense_Mutation SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 4 166924650 166924650 G T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.740 p.G247V 1.000 pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 82 0 0.00 50 10 16.67 TLR2 0 genome.wustl.edu 37 4 154625228 154625228 + Missense_Mutation SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 4 154625228 154625228 A G SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known missense c.1169 p.Q390R 0.311 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 41 0 0.00 16 2 11.11 TNKS 0 genome.wustl.edu 37 8 9592385 9592385 + Missense_Mutation SNP A A G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 8 9592385 9592385 A G SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.2324 p.D775G 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 tier1 - - 57 0 0.00 28 4 12.12 TOMM7 0 genome.wustl.edu 37 7 22857031 22857031 + Frame_Shift_Del DEL T T - TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 7 22857031 22857031 T - DEL TOMM7 ENST00000372879 human ensembl 74_37 -1 putative frame_shift_del c.289 p.T97fs 0.100 NULL pfam_Tom7 - no_errors TOMM7 HGNC ENSG00000196683 tier1 21 0 0.00 22 3 12.00 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121913343 - 332 0 0.00 194 103 34.68 TRDN 0 genome.wustl.edu 37 6 123576225 123576225 + Splice_Site SNP C C A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 6 123576225 123576225 C A SNP TRDN ENST00000398178 human ensembl 74_37 -1 known splice_site c.1951+1 e37+1 1.000 - - - no_errors TRDN HGNC ENSG00000186439 tier1 - - 65 0 0.00 29 5 14.71 TTC8 0 genome.wustl.edu 37 14 89291075 89291075 + Silent SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 14 89291075 89291075 G T SNP TTC8 ENST00000338104 human ensembl 74_37 +1 known silent c.24 p.L8 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 tier1 - - 10 0 0.00 2 7 77.78 TTN 0 genome.wustl.edu 37 2 179554284 179554284 + Missense_Mutation SNP T T C TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 179554284 179554284 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.28153 p.I9385V 0.902 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-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 - - 35 0 0.00 24 5 17.24 VPS41 0 genome.wustl.edu 37 7 38766586 38766586 + Missense_Mutation SNP C C G TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 7 38766586 38766586 C G SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known missense c.2407 p.A803P 1.000 pirsf_VPS41,pfscan_Znf_RING pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 23 0 0.00 26 7 21.21 XIRP2 0 genome.wustl.edu 37 2 168097247 168097247 + Splice_Site SNP G G T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 2 168097247 168097247 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known splice_site c.1042+1 e6+1 1.000 - - - no_errors XIRP2 HGNC ENSG00000163092 87 0 0.00 50 3 5.66 ZNF174 0 genome.wustl.edu 37 16 3452110 3452111 + Frame_Shift_Ins INS - - A TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 16 3452110 3452111 - A INS ZNF174 ENST00000268655 human ensembl 74_37 +1 known frame_shift_ins c.106_107 p.N38fs 0.037:0.000 superfamily_Retrov_capsid_C pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 tier1 36 0 0.00 24 4 14.29 ZNF23 0 genome.wustl.edu 37 16 71483126 71483126 + Frame_Shift_Del DEL T T - TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 16 71483126 71483126 T - DEL ZNF23 ENST00000357254 human ensembl 74_37 -1 known frame_shift_del c.802 p.S268fs 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF23 HGNC ENSG00000167377 tier1 76 0 0.00 19 2 9.52 ZNF570 0 genome.wustl.edu 37 19 37975902 37975902 + Missense_Mutation SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 19 37975902 37975902 C T SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known missense c.1378 p.H460Y 1.000 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 - no_errors ZNF570 HGNC ENSG00000171827 tier1 - - 44 0 0.00 38 6 13.64 ZNF646 0 genome.wustl.edu 37 16 31091561 31091561 + Missense_Mutation SNP C C T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ade64252-be4f-49a4-bb7a-6becd25e9660 c222ce91-3136-4f1b-8947-b4a83e4df95e 16 31091561 31091561 C T SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.3916 p.R1306W 0.846 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 16 0 0.00 11 2 15.38