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 ABCA9 0 genome.wustl.edu 37 17 67047198 67047199 + Frame_Shift_Ins INS - - T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 67047198 67047199 - T INS ABCA9 ENST00000340001 human ensembl 74_37 -1 known frame_shift_ins c.70_69 p.W23fs 0.999:0.987 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 tier1 63 0 0.00 55 10 15.38 ABL2 0 genome.wustl.edu 37 1 179077318 179077318 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 179077318 179077318 G A SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known silent c.3084 p.G1028 0.001 pfam_F-actin_binding pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 tier1 - - 122 0 0.00 67 28 29.47 ACOT7 0 genome.wustl.edu 37 1 6324709 6324709 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 6324709 6324709 C T SNP ACOT7 ENST00000377855 human ensembl 74_37 -1 known missense c.1091 p.R364Q 0.950 NULL pfam_Thioestr_supf - no_errors ACOT7 HGNC ENSG00000097021 tier1 - - 27 0 0.00 16 9 36.00 ACSS1 0 genome.wustl.edu 37 20 25002052 25002053 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 25002052 25002053 - A INS ACSS1 ENST00000323482 human ensembl 74_37 -1 known frame_shift_ins c.1081_1080 p.E360fs 1.000:1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 tier1 22 0 0.00 17 4 19.05 ACSS2 0 genome.wustl.edu 37 20 33508905 33508905 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 33508905 33508905 C T SNP ACSS2 ENST00000253382 human ensembl 74_37 +1 known missense c.1279 p.R427C 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 tier1 - - 165 0 0.00 103 43 29.45 ACTN2 0 genome.wustl.edu 37 1 236902765 236902765 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 236902765 236902765 C T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1040 p.T347M 1.000 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 tier1 - - 66 0 0.00 30 20 40.00 ACTN2 0 genome.wustl.edu 37 1 236908064 236908064 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 236908064 236908064 C T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1394 p.A465V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 tier1 - - 54 0 0.00 20 15 42.86 ACVR1B 0 genome.wustl.edu 37 12 52387834 52387834 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 52387834 52387834 G A SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known silent c.1458 p.T486 0.010 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 - no_errors ACVR1B HGNC ENSG00000135503 tier1 - - 77 0 0.00 79 35 30.70 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 tier1 111 0 0.00 90 11 10.89 ADAD2 0 genome.wustl.edu 37 16 84229204 84229204 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 84229204 84229204 C T SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known missense c.1199 p.A400V 0.997 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 tier1 - - 43 0 0.00 23 17 42.50 ADAM23 0 genome.wustl.edu 37 2 207460860 207460861 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 207460860 207460861 - C INS ADAM23 ENST00000264377 human ensembl 74_37 +1 known frame_shift_ins c.2333_2334 p.K781fs 0.005:0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 tier1 46 0 0.00 39 9 18.75 ADAM7 0 genome.wustl.edu 37 8 24358389 24358389 + Missense_Mutation SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 24358389 24358389 A C SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.2089 p.K697Q 0.128 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 tier1 - - 145 0 0.00 127 20 13.61 ADAMTS12 0 genome.wustl.edu 37 5 33616019 33616019 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 33616019 33616019 C T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.2302 p.A768T 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 120 0 0.00 83 31 27.19 ADAMTS16 0 genome.wustl.edu 37 5 5239336 5239336 + Missense_Mutation SNP T T A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 5239336 5239336 T A SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2227 p.S743T 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 tier1 - - 167 0 0.00 92 45 32.85 ADAMTS20 0 genome.wustl.edu 37 12 43886402 43886402 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 43886402 43886402 T C SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.982 p.T328A 0.988 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 26 0 0.00 20 4 16.67 ADARB2 0 genome.wustl.edu 37 10 1262905 1262905 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 1262905 1262905 C T SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known silent c.1668 p.T556 0.057 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 tier1 - - 26 0 0.00 22 5 18.52 ADCY2 0 genome.wustl.edu 37 5 7709336 7709336 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 7709336 7709336 A G SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.1414 p.S472G 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 tier1 - - 84 0 0.00 34 11 24.44 ADTRP 0 genome.wustl.edu 37 6 11714640 11714641 + RNA DEL AA AA - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 11714640 11714641 AA - DEL ADTRP ENST00000512139 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ADTRP HGNC ENSG00000111863 tier1 25 0 0.00 19 6 24.00 AFF1 0 genome.wustl.edu 37 4 87968676 87968676 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 87968676 87968676 A - DEL AFF1 ENST00000395146 human ensembl 74_37 +1 known frame_shift_del c.989 p.T332fs 0.967 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 tier1 85 0 0.00 78 31 28.44 AHNAK 0 genome.wustl.edu 37 11 62299320 62299320 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 62299320 62299320 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.2569 p.A857T 0.998 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 317 0 0.00 218 79 26.42 ALAS2 0 genome.wustl.edu 37 X 55042055 55042055 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 55042055 55042055 C T SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.1124 p.R375H 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 tier1 - - 85 0 0.00 57 20 25.97 ALMS1 0 genome.wustl.edu 37 2 73678745 73678745 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 73678745 73678745 A G SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.5088 p.P1696 0.001 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 128 0 0.00 100 41 29.08 ALX4 0 genome.wustl.edu 37 11 44296999 44296999 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 44296999 44296999 G A SNP ALX4 ENST00000329255 human ensembl 74_37 -1 known silent c.676 p.L226 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 tier1 - - 226 0 0.00 161 55 25.46 AMER1 0 genome.wustl.edu 37 X 63413009 63413009 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 63413009 63413009 T C SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.158 p.K53R 1.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 tier1 - - 131 0 0.00 61 35 36.46 ANAPC1 0 genome.wustl.edu 37 2 112614257 112614258 + Splice_Site INS - - T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 112614257 112614258 - T INS ANAPC1 ENST00000341068 human ensembl 74_37 -1 known splice_site_ins c.1450-2_1450-1 e12-1 0.994:0.992 - - - no_errors ANAPC1 HGNC ENSG00000153107 tier1 43 0 0.00 44 5 10.20 ANGPT1 0 genome.wustl.edu 37 8 108348406 108348406 + Nonsense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 108348406 108348406 C A SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known nonsense c.547 p.E183* 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 tier1 - - 69 0 0.00 51 19 27.14 ANKMY2 0 genome.wustl.edu 37 7 16685304 16685304 + RNA SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 16685304 16685304 G A SNP ANKMY2 ENST00000421746 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKMY2 HGNC ENSG00000106524 tier1 - - 18 0 0.00 12 6 33.33 ANKRD11 0 genome.wustl.edu 37 16 89351056 89351057 + Frame_Shift_Ins INS - - T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 89351056 89351057 - T INS ANKRD11 ENST00000301030 human ensembl 74_37 -1 known frame_shift_ins c.1894_1893 p.H631fs 1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 130 0 0.00 92 24 20.69 ANKRD12 0 genome.wustl.edu 37 18 9257340 9257340 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 9257340 9257340 C T SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.4075 p.L1359F 0.902 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 tier1 - - 100 0 0.00 76 28 26.92 ANKRD27 0 genome.wustl.edu 37 19 33140670 33140670 + Nonsense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 33140670 33140670 G T SNP ANKRD27 ENST00000306065 human ensembl 74_37 -1 known nonsense c.131 p.S44* 0.094 NULL pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 tier1 - - 213 0 0.00 131 74 36.10 ANKRD30BL 0 genome.wustl.edu 37 2 132911178 132911178 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 132911178 132911178 G A SNP ANKRD30BL ENST00000295181 human ensembl 74_37 -1 known missense c.704 p.T235I 0.001 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD30BL HGNC ENSG00000163046 tier1 - - 29 0 0.00 22 4 15.38 ANO3 0 genome.wustl.edu 37 11 26655759 26655759 + Missense_Mutation SNP C C G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 26655759 26655759 C G SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.1882 p.R628G 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 tier1 - - 31 0 0.00 20 11 35.48 ANO9 0 genome.wustl.edu 37 11 428597 428597 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 428597 428597 G A SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known missense c.1063 p.R355C 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 tier1 - - 54 0 0.00 43 14 24.14 AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 tier1 83 0 0.00 62 20 24.39 AP3B1 0 genome.wustl.edu 37 5 77424993 77424993 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 77424993 77424993 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.1789 p.I597fs 1.000 superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 tier1 71 0 0.00 44 23 34.33 APBA2 0 genome.wustl.edu 37 15 29346255 29346255 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 29346255 29346255 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known silent c.168 p.P56 0.831 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 tier1 - - 72 0 0.00 57 13 18.57 APBA2 0 genome.wustl.edu 37 15 29409285 29409285 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 29409285 29409285 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known silent c.2199 p.P733 0.852 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 tier1 - - 84 0 0.00 55 17 23.61 APCDD1 0 genome.wustl.edu 37 18 10487787 10487787 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 10487787 10487787 G T SNP APCDD1 ENST00000355285 human ensembl 74_37 +1 known missense c.1297 p.G433W 1.000 NULL NULL - no_errors APCDD1 HGNC ENSG00000154856 tier1 - - 59 0 0.00 46 23 33.33 AQP6 0 genome.wustl.edu 37 12 50367278 50367278 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 50367278 50367278 C T SNP AQP6 ENST00000315520 human ensembl 74_37 +1 known silent c.322 p.L108 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_6,tigrfam_MIP - no_errors AQP6 HGNC ENSG00000086159 tier1 - - 37 0 0.00 26 11 29.73 ARAF 0 genome.wustl.edu 37 X 47426415 47426415 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 47426415 47426415 C - DEL ARAF ENST00000377045 human ensembl 74_37 +1 known frame_shift_del c.758 p.R255fs 0.000 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 26 0 0.00 29 7 19.44 AREG 0 genome.wustl.edu 37 4 75312298 75312298 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 75312298 75312298 C T SNP AREG ENST00000264487 human ensembl 74_37 +1 known missense c.109 p.R37C 0.016 NULL pfscan_EG-like_dom - no_errors AREG HGNC ENSG00000109321 tier1 - - 8 0 0.00 4 6 60.00 AREGB 0 genome.wustl.edu 37 4 75482053 75482053 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 75482053 75482053 C T SNP AREGB ENST00000380846 human ensembl 74_37 +1 known missense c.109 p.R37C 0.128 NULL pfscan_EG-like_dom - no_errors AREGB HGNC ENSG00000205595 tier1 - - 144 0 0.00 99 50 33.56 ARFGAP2 0 genome.wustl.edu 37 11 47196853 47196853 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 47196853 47196853 A - DEL ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known frame_shift_del c.276 p.R93fs 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 tier1 126 0 0.00 49 58 54.21 ARHGAP29 0 genome.wustl.edu 37 1 94640231 94640231 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 94640231 94640231 G A SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known missense c.2980 p.P994S 0.001 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 tier1 - - 148 0 0.00 101 40 28.37 ARHGEF4 0 genome.wustl.edu 37 2 131797694 131797694 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 131797694 131797694 C T SNP ARHGEF4 ENST00000326016 human ensembl 74_37 +1 known missense c.853 p.R285W 1.000 superfamily_DH-domain,superfamily_SH3_domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF4 HGNC ENSG00000136002 tier1 - - 25 0 0.00 13 8 38.10 ARID1A 0 genome.wustl.edu 37 1 27059167 27059167 + Nonsense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 27059167 27059167 G T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.1804 p.E602* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 101 0 0.00 52 26 33.33 ARID4A 0 genome.wustl.edu 37 14 58818282 58818282 + RNA SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 58818282 58818282 G A SNP ARID4A ENST00000553355 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ARID4A HGNC ENSG00000032219 tier1 - - 14 0 0.00 7 5 41.67 ARL15 0 genome.wustl.edu 37 5 53606269 53606269 + Missense_Mutation SNP T T A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 53606269 53606269 T A SNP ARL15 ENST00000504924 human ensembl 74_37 -1 known missense c.41 p.D14V 1.000 smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR - no_errors ARL15 HGNC ENSG00000185305 tier1 - - 12 0 0.00 4 4 50.00 ARRDC2 0 genome.wustl.edu 37 19 18120717 18120717 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 18120717 18120717 G A SNP ARRDC2 ENST00000222250 human ensembl 74_37 +1 known missense c.718 p.V240M 1.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ENSG00000105643 tier1 - - 44 0 0.00 33 13 28.26 ARSD 0 genome.wustl.edu 37 X 2838724 2838724 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 2838724 2838724 G A SNP ARSD ENST00000381154 human ensembl 74_37 -1 known silent c.357 p.N119 0.060 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 tier1 rs201773531 - 53 0 0.00 51 15 22.73 ASH1L 0 genome.wustl.edu 37 1 155349914 155349915 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 155349914 155349915 - A INS ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_ins c.6112_6111 p.V2037fs 0.075:0.790 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 tier1 62 0 0.00 31 6 16.22 ASTE1 0 genome.wustl.edu 37 3 130733047 130733049 + In_Frame_Del DEL TTT TTT - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 130733047 130733049 TTT - DEL ASTE1 ENST00000264992 human ensembl 74_37 -1 known in_frame_del c.1894_1892 p.K631in_frame_del 0.014:0.001:0.000 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 tier1 78 0 0.00 46 19 29.23 ATG14 0 genome.wustl.edu 37 14 55847308 55847308 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 55847308 55847308 G A SNP ATG14 ENST00000247178 human ensembl 74_37 -1 known silent c.978 p.P326 1.000 pfam_UV_resistance/autophagy_Atg14 pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 tier1 - - 66 0 0.00 40 25 38.46 ATG2A 0 genome.wustl.edu 37 11 64662563 64662563 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 64662563 64662563 G A SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.5705 p.P1902L 0.999 pfam_Autophagy-rel_C pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 tier1 - - 72 0 0.00 69 13 15.85 ATP1A1 0 genome.wustl.edu 37 1 116936320 116936320 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 116936320 116936320 G - DEL ATP1A1 ENST00000295598 human ensembl 74_37 +1 known frame_shift_del c.1635 p.G547fs 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,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 ATP1A1 HGNC ENSG00000163399 tier1 42 0 0.00 29 10 25.64 ATP2B4 0 genome.wustl.edu 37 1 203669952 203669952 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 203669952 203669952 C T SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.802 p.R268W 0.993 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,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_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 tier1 - - 84 0 0.00 49 4 7.55 ATP8A2 0 genome.wustl.edu 37 13 26125597 26125597 + Nonsense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 13 26125597 26125597 G A SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known nonsense c.1013 p.W338* 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 tier1 - - 45 0 0.00 35 12 25.53 ATP8B2 0 genome.wustl.edu 37 1 154321529 154321529 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 154321529 154321529 C T SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.3607 p.R1203C 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 tier1 - - 39 0 0.00 23 16 41.03 ATP8B3 0 genome.wustl.edu 37 19 1788970 1788970 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 1788970 1788970 A G SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.3025 p.Y1009H 1.000 tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 tier1 - - 15 0 0.00 19 12 38.71 ATPAF1 0 genome.wustl.edu 37 1 47101516 47101516 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 47101516 47101516 T C SNP ATPAF1 ENST00000576409 human ensembl 74_37 -1 known missense c.988 p.I330V 1.000 pfam_ATP11 pfam_ATP11 - no_errors ATPAF1 HGNC ENSG00000123472 tier1 - - 246 0 0.00 156 79 33.62 ATRX 0 genome.wustl.edu 37 X 76776390 76776390 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 76776390 76776390 T C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.7076 p.K2359R 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 104 0 0.00 62 31 33.33 BAI3 0 genome.wustl.edu 37 6 70098781 70098782 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 70098781 70098782 - A INS BAI3 ENST00000370598 human ensembl 74_37 +1 known frame_shift_ins c.4567_4568 p.*1524fs 1.000:0.977 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 35 0 0.00 28 6 17.65 BATF2 0 genome.wustl.edu 37 11 64756881 64756881 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 64756881 64756881 C T SNP BATF2 ENST00000301887 human ensembl 74_37 -1 known missense c.545 p.G182D 0.006 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors BATF2 HGNC ENSG00000168062 tier1 - - 40 0 0.00 31 7 18.42 BATF2 0 genome.wustl.edu 37 11 64756969 64756969 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 64756969 64756969 G - DEL BATF2 ENST00000301887 human ensembl 74_37 -1 known frame_shift_del c.457 p.L153fs 0.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors BATF2 HGNC ENSG00000168062 tier1 17 0 0.00 11 7 38.89 BAZ2B 0 genome.wustl.edu 37 2 160304785 160304785 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 160304785 160304785 G A SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.470 p.S157L 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 tier1 - - 80 0 0.00 69 18 20.69 BCOR 0 genome.wustl.edu 37 X 39913253 39913253 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 39913253 39913253 G - DEL BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_del c.4862 p.P1621fs 0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 tier1 52 0 0.00 29 16 35.56 BDH1 0 genome.wustl.edu 37 3 197239113 197239113 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 197239113 197239113 G - DEL BDH1 ENST00000358186 human ensembl 74_37 -1 known frame_shift_del c.685 p.L229fs 0.995 prints_Glc/ribitol_DH,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors BDH1 HGNC ENSG00000161267 tier1 56 0 0.00 48 5 9.43 BEST3 0 genome.wustl.edu 37 12 70049361 70049362 + Frame_Shift_Ins INS - - G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 70049361 70049362 - G INS BEST3 ENST00000330891 human ensembl 74_37 -1 known frame_shift_ins c.1333_1332 p.R444fs 0.001:0.001 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 tier1 56 0 0.00 54 19 26.03 BMP1 0 genome.wustl.edu 37 8 22064992 22064992 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 22064992 22064992 G A SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known silent c.2538 p.S846 0.014 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,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,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 tier1 - - 47 0 0.00 71 20 21.98 BMP2K 0 genome.wustl.edu 37 4 79831985 79831987 + In_Frame_Del DEL GAA GAA - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 79831985 79831987 GAA - DEL BMP2K ENST00000335016 human ensembl 74_37 +1 known in_frame_del c.2284_2286 p.E763in_frame_del 1.000:1.000:0.944 NULL 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 - no_errors BMP2K HGNC ENSG00000138756 tier1 44 0 0.00 46 13 22.03 BNC1 0 genome.wustl.edu 37 15 83932760 83932760 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 83932760 83932760 T C SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.1243 p.M415V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 124 0 0.00 85 38 30.89 BNIP3P1 0 genome.wustl.edu 37 14 28733889 28733890 + RNA INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 28733889 28733890 - A INS BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.997:0.930 - - - no_errors BNIP3P1 HGNC ENSG00000197358 tier1 97 0 0.00 70 10 12.50 BOC 0 genome.wustl.edu 37 3 113002318 113002318 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 113002318 113002318 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.2495 p.P832L 0.219 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 BOC HGNC ENSG00000144857 tier1 - - 134 0 0.00 81 43 34.68 BRINP2 0 genome.wustl.edu 37 1 177242646 177242646 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 177242646 177242646 C A SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.692 p.P231H 1.000 smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 tier1 - - 67 0 0.00 26 12 31.58 BSCL2 0 genome.wustl.edu 37 11 62472899 62472899 + Missense_Mutation SNP A A T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 62472899 62472899 A T SNP BSCL2 ENST00000360796 human ensembl 74_37 -1 known missense c.278 p.L93Q 0.997 NULL pfam_Adipose-reg_protein_Seipin - no_errors BSCL2 HGNC ENSG00000168000 tier1 - - 20 0 0.00 21 7 25.00 BSN 0 genome.wustl.edu 37 3 49690300 49690300 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 49690300 49690300 C - DEL BSN ENST00000296452 human ensembl 74_37 +1 known frame_shift_del c.3311 p.P1105fs 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 109 0 0.00 77 38 33.04 BTBD11 0 genome.wustl.edu 37 12 108045467 108045467 + Missense_Mutation SNP A A T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 108045467 108045467 A T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.3008 p.K1003M 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 29 0 0.00 28 3 9.68 BTBD7 0 genome.wustl.edu 37 14 93760638 93760638 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 93760638 93760638 T C SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.728 p.Y243C 1.000 smart_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 tier1 - - 81 0 0.00 73 37 33.64 C10orf137 0 genome.wustl.edu 37 10 127452032 127452032 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 127452032 127452032 C T SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known silent c.3708 p.A1236 0.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 tier1 - - 34 0 0.00 29 10 25.64 C11orf63 0 genome.wustl.edu 37 11 122805598 122805598 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 122805598 122805598 G A SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known silent c.1449 p.Q483 0.957 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 tier1 - - 113 0 0.00 84 37 30.58 C11orf63 0 genome.wustl.edu 37 11 122827255 122827255 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 122827255 122827255 G A SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.1981 p.G661R 1.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 tier1 rs61748621 - 79 0 0.00 41 31 43.06 C11orf70 0 genome.wustl.edu 37 11 101937222 101937222 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 101937222 101937222 A G SNP C11orf70 ENST00000434758 human ensembl 74_37 +1 known missense c.275 p.E92G 1.000 NULL NULL - no_errors C11orf70 HGNC ENSG00000137691 tier1 - - 158 0 0.00 95 39 29.10 C12orf56 0 genome.wustl.edu 37 12 64784342 64784342 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 64784342 64784342 C T SNP C12orf56 ENST00000333722 human ensembl 74_37 -1 known missense c.4 p.A2T 1.000 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 tier1 - - 19 0 0.00 12 4 25.00 C16orf92 0 genome.wustl.edu 37 16 30035386 30035386 + Missense_Mutation SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 30035386 30035386 T G SNP C16orf92 ENST00000300575 human ensembl 74_37 +1 known missense c.356 p.L119R 0.674 NULL NULL - no_errors C16orf92 HGNC ENSG00000167194 tier1 - - 99 0 0.00 55 8 12.70 C19orf12 0 genome.wustl.edu 37 19 30193879 30193879 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 30193879 30193879 C - DEL C19orf12 ENST00000392278 human ensembl 74_37 -1 known frame_shift_del c.199 p.A67fs 0.813 NULL NULL - no_errors C19orf12 HGNC ENSG00000131943 tier1 101 0 0.00 68 33 32.67 C19orf25 0 genome.wustl.edu 37 19 1475044 1475044 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 1475044 1475044 G A SNP C19orf25 ENST00000436106 human ensembl 74_37 -1 known missense c.344 p.A115V 0.001 NULL NULL - no_errors C19orf25 HGNC ENSG00000119559 tier1 - - 13 0 0.00 2 4 66.67 C1QTNF5 0 genome.wustl.edu 37 11 119210189 119210190 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 119210189 119210190 - C INS C1QTNF5 ENST00000445041 human ensembl 74_37 -1 known frame_shift_ins c.584_583 p.A195fs 1.000:0.976 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF5 HGNC ENSG00000223953 tier1 55 0 0.00 44 8 15.38 C1orf177 0 genome.wustl.edu 37 1 55279566 55279566 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 55279566 55279566 T - DEL C1orf177 ENST00000371273 human ensembl 74_37 +1 known frame_shift_del c.842 p.S283fs 0.010 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 tier1 128 0 0.00 72 17 19.10 C3 0 genome.wustl.edu 37 19 6697423 6697423 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 6697423 6697423 C T SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2728 p.V910M 1.000 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 43 0 0.00 34 14 29.17 C6orf58 0 genome.wustl.edu 37 6 127898626 127898626 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 127898626 127898626 G T SNP C6orf58 ENST00000329722 human ensembl 74_37 +1 known missense c.296 p.R99M 0.000 pfam_DUF781 pfam_DUF781 - no_errors C6orf58 HGNC ENSG00000184530 tier1 - - 134 0 0.00 95 35 26.92 C6orf89 0 genome.wustl.edu 37 6 36867370 36867371 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 36867370 36867371 - C INS C6orf89 ENST00000355190 human ensembl 74_37 +1 known frame_shift_ins c.171_172 p.Q60fs 0.997:0.991 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 tier1 59 0 0.00 50 18 26.47 C7orf66 0 genome.wustl.edu 37 7 108524151 108524151 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 108524151 108524151 T C SNP C7orf66 ENST00000379007 human ensembl 74_37 -1 putative missense c.261 p.I87M 0.006 NULL NULL - no_errors C7orf66 HGNC ENSG00000205174 tier1 - - 130 0 0.00 85 38 30.89 C8A 0 genome.wustl.edu 37 1 57340751 57340751 + Nonsense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 57340751 57340751 C T SNP C8A ENST00000361249 human ensembl 74_37 +1 known nonsense c.301 p.Q101* 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_MAC_perforin pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8A HGNC ENSG00000157131 tier1 - - 38 0 0.00 17 7 29.17 C9orf129 0 genome.wustl.edu 37 9 96097671 96097671 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 96097671 96097671 C A SNP C9orf129 ENST00000375419 human ensembl 74_37 -1 known missense c.350 p.S117I 0.985 NULL NULL - no_errors C9orf129 HGNC ENSG00000204352 tier1 - - 15 0 0.00 11 5 31.25 CACNG3 0 genome.wustl.edu 37 16 24372788 24372788 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 24372788 24372788 C T SNP CACNG3 ENST00000005284 human ensembl 74_37 +1 known silent c.552 p.F184 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu - no_errors CACNG3 HGNC ENSG00000006116 tier1 - - 173 0 0.00 115 51 30.72 CAPN1 0 genome.wustl.edu 37 11 64973997 64973997 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 64973997 64973997 C T SNP CAPN1 ENST00000279247 human ensembl 74_37 +1 known missense c.1417 p.R473C 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 tier1 - - 124 0 0.00 99 32 24.06 CCAR2 0 genome.wustl.edu 37 8 22475212 22475212 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 22475212 22475212 G A SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known missense c.1994 p.G665E 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 tier1 rs201118681 - 114 0 0.00 109 36 24.83 CCDC103 0 genome.wustl.edu 37 17 42980014 42980015 + Frame_Shift_Del DEL AG AG - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 42980014 42980015 AG - DEL CCDC103 ENST00000410006 human ensembl 74_37 +1 known frame_shift_del c.558_559 p.S190fs 0.000:0.999 NULL NULL - no_errors CCDC103 HGNC ENSG00000167131 tier1 50 0 0.00 35 4 10.26 CCDC107 0 genome.wustl.edu 37 9 35660930 35660931 + Frame_Shift_Del DEL CA CA - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 35660930 35660931 CA - DEL CCDC107 ENST00000426546 human ensembl 74_37 +1 known frame_shift_del c.598_599 p.T201fs 0.000:0.004 NULL NULL - no_errors CCDC107 HGNC ENSG00000159884 tier1 112 0 0.00 84 25 22.94 CCDC108 0 genome.wustl.edu 37 2 219895874 219895874 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 219895874 219895874 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known silent c.969 p.Y323 0.479 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 tier1 - - 10 0 0.00 3 6 66.67 CCDC11 0 genome.wustl.edu 37 18 47769415 47769415 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 47769415 47769415 C A SNP CCDC11 ENST00000398545 human ensembl 74_37 -1 known missense c.1068 p.Q356H 0.933 NULL NULL - no_errors CCDC11 HGNC ENSG00000172361 tier1 - - 190 0 0.00 128 33 20.50 CCDC124 0 genome.wustl.edu 37 19 18054453 18054455 + In_Frame_Del DEL AAG AAG - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 18054453 18054455 AAG - DEL CCDC124 ENST00000445755 human ensembl 74_37 +1 known in_frame_del c.601_603 p.K202in_frame_del 1.000:1.000:1.000 pfam_DUF1014,superfamily_HMG_box_dom pfam_DUF1014,superfamily_HMG_box_dom - no_errors CCDC124 HGNC ENSG00000007080 tier1 23 0 0.00 19 5 20.83 CCDC39 0 genome.wustl.edu 37 3 180377345 180377345 + Silent SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 180377345 180377345 T C SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known silent c.633 p.Q211 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 tier1 - - 85 0 0.00 68 23 25.27 CCDC43 0 genome.wustl.edu 37 17 42756253 42756253 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 42756253 42756253 T - DEL CCDC43 ENST00000315286 human ensembl 74_37 -1 known frame_shift_del c.646 p.R216fs 1.000 NULL NULL - no_errors CCDC43 HGNC ENSG00000180329 tier1 24 0 0.00 16 8 33.33 CCDC74A 0 genome.wustl.edu 37 2 132290601 132290601 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 132290601 132290601 G A SNP CCDC74A ENST00000295171 human ensembl 74_37 +1 known silent c.966 p.T322 0.162 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 110 0 0.00 89 12 11.76 CCL20 0 genome.wustl.edu 37 2 228680154 228680156 + RNA DEL TTT TTT - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 228680154 228680156 TTT - DEL CCL20 ENST00000473642 human ensembl 74_37 +1 known rna NULL NULL 0.010:0.011:0.011 - - - no_errors CCL20 HGNC ENSG00000115009 tier1 101 0 0.00 62 19 23.46 CCSAP 0 genome.wustl.edu 37 1 229460857 229460857 + RNA DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 229460857 229460857 A - DEL CCSAP ENST00000483092 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CCSAP HGNC ENSG00000154429 tier1 20 0 0.00 8 8 50.00 CD248 0 genome.wustl.edu 37 11 66082679 66082679 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 66082679 66082679 G T SNP CD248 ENST00000311330 human ensembl 74_37 -1 known missense c.1820 p.S607Y 0.036 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 tier1 - - 83 0 0.00 111 7 5.93 CD2AP 0 genome.wustl.edu 37 6 47573986 47573986 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 47573986 47573986 G T SNP CD2AP ENST00000359314 human ensembl 74_37 +1 known missense c.1503 p.L501F 0.988 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors CD2AP HGNC ENSG00000198087 tier1 - - 67 0 0.00 46 20 30.30 CD300A 0 genome.wustl.edu 37 17 72477461 72477461 + Missense_Mutation SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 72477461 72477461 A C SNP CD300A ENST00000360141 human ensembl 74_37 +1 known missense c.662 p.K221T 0.010 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300A HGNC ENSG00000167851 tier1 - - 74 0 0.00 36 26 41.94 CD8BP 0 genome.wustl.edu 37 2 107107579 107107579 + RNA SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 107107579 107107579 G A SNP CD8BP ENST00000416057 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD8BP HGNC ENSG00000254126 tier1 - - 81 0 0.00 53 14 20.90 CDC42BPA 0 genome.wustl.edu 37 1 227222417 227222417 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 227222417 227222417 C T SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.3310 p.D1104N 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 tier1 - - 93 0 0.00 66 27 29.03 CDC42EP4 0 genome.wustl.edu 37 17 71281908 71281908 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 71281908 71281908 G A SNP CDC42EP4 ENST00000335793 human ensembl 74_37 -1 known silent c.732 p.G244 0.015 NULL pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP4 HGNC ENSG00000179604 tier1 - - 34 0 0.00 30 11 26.83 CDH3 0 genome.wustl.edu 37 16 68712089 68712089 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 68712089 68712089 G A SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known missense c.299 p.R100H 0.230 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 tier1 - - 70 0 0.00 57 17 22.97 CDK14 0 genome.wustl.edu 37 7 90741929 90741929 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 90741929 90741929 G A SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known silent c.1227 p.S409 0.021 pfam_Prot_kinase_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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK14 HGNC ENSG00000058091 tier1 rs151182341 - 90 0 0.00 58 33 36.26 CDK2AP2 0 genome.wustl.edu 37 11 67275092 67275092 + Missense_Mutation SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 67275092 67275092 A C SNP CDK2AP2 ENST00000301488 human ensembl 74_37 -1 known missense c.151 p.F51V 1.000 pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2 pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2 - no_errors CDK2AP2 HGNC ENSG00000167797 tier1 - - 36 0 0.00 47 14 22.95 CDKN2A 0 genome.wustl.edu 37 9 21971139 21971139 + Nonsense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 21971139 21971139 G A SNP CDKN2A ENST00000361570 human ensembl 74_37 -1 known nonsense c.385 p.R129* 0.000 NULL pfam_Cyclin_kinase-Inhib_2A - no_errors CDKN2A HGNC ENSG00000147889 13 0 0.00 11 4 26.67 CDYL2 0 genome.wustl.edu 37 16 80718955 80718955 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 80718955 80718955 G A SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known silent c.96 p.Y32 0.894 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 tier1 - - 148 0 0.00 75 46 38.02 CELP 0 genome.wustl.edu 37 9 135961815 135961815 + RNA SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 135961815 135961815 C T SNP CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors CELP HGNC ENSG00000170827 tier1 - - 15 0 0.00 6 8 57.14 CEP120 0 genome.wustl.edu 37 5 122725676 122725676 + Silent SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 122725676 122725676 T C SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known silent c.1197 p.A399 0.937 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 tier1 - - 134 0 0.00 63 40 38.83 CEP192 0 genome.wustl.edu 37 18 13055986 13055986 + Missense_Mutation SNP G G C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 13055986 13055986 G C SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.3397 p.D1133H 0.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 tier1 - - 41 0 0.00 38 14 26.92 CEP57 0 genome.wustl.edu 37 11 95555113 95555113 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 95555113 95555113 A - DEL CEP57 ENST00000325542 human ensembl 74_37 +1 known frame_shift_del c.778 p.K262fs 1.000 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 tier1 68 0 0.00 49 23 31.94 CEPT1 0 genome.wustl.edu 37 1 111690320 111690320 + RNA DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 111690320 111690320 A - DEL CEPT1 ENST00000460443 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CEPT1 HGNC ENSG00000134255 tier1 24 0 0.00 20 8 28.57 CETN2 0 genome.wustl.edu 37 X 151997585 151997585 + RNA SNP T T A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 151997585 151997585 T A SNP CETN2 ENST00000493482 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors CETN2 HGNC ENSG00000147400 tier1 - - 42 0 0.00 20 13 39.39 CFH 0 genome.wustl.edu 37 1 196712585 196712587 + In_Frame_Del DEL CCT CCT - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 196712585 196712587 CCT - DEL CFH ENST00000367429 human ensembl 74_37 +1 known in_frame_del c.3137_3139 p.S1047in_frame_del 0.034:0.141:0.833 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 109 0 0.00 57 22 27.85 CGRRF1 0 genome.wustl.edu 37 14 54996842 54996842 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 54996842 54996842 T C SNP CGRRF1 ENST00000216420 human ensembl 74_37 +1 known missense c.320 p.L107S 0.689 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors CGRRF1 HGNC ENSG00000100532 tier1 - - 57 0 0.00 38 16 29.63 CHD7 0 genome.wustl.edu 37 8 61765877 61765877 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 61765877 61765877 G T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.6593 p.G2198V 0.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 14 0 0.00 23 10 30.30 CHD9 0 genome.wustl.edu 37 16 53331043 53331043 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 53331043 53331043 A G SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.5686 p.R1896G 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 tier1 - - 96 0 0.00 58 30 34.09 CHRD 0 genome.wustl.edu 37 3 184102469 184102469 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 184102469 184102469 G A SNP CHRD ENST00000204604 human ensembl 74_37 +1 known missense c.1585 p.A529T 0.990 pirsf_Chordin pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 tier1 - - 45 0 0.00 21 7 18.92 CHRNA1 0 genome.wustl.edu 37 2 175618297 175618297 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 175618297 175618297 C T SNP CHRNA1 ENST00000261007 human ensembl 74_37 -1 known missense c.787 p.V263I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 tier1 - - 87 0 0.00 93 6 6.06 CHRNA6 0 genome.wustl.edu 37 8 42620254 42620254 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 42620254 42620254 G T SNP CHRNA6 ENST00000276410 human ensembl 74_37 -1 known missense c.173 p.P58H 0.996 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 tier1 - - 120 0 0.00 121 30 19.87 CHST3 0 genome.wustl.edu 37 10 73768065 73768065 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 73768065 73768065 G A SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known missense c.1276 p.E426K 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 tier1 - - 10 0 0.00 5 4 44.44 CIZ1 0 genome.wustl.edu 37 9 130941584 130941584 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 130941584 130941584 T C SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known missense c.902 p.E301G 0.751 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 tier1 - - 85 0 0.00 64 27 29.67 CLEC16A 0 genome.wustl.edu 37 16 11066812 11066812 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 11066812 11066812 C T SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known silent c.622 p.L208 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 tier1 - - 30 0 0.00 25 10 28.57 CLPP 0 genome.wustl.edu 37 19 6361916 6361916 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 6361916 6361916 C T SNP CLPP ENST00000245816 human ensembl 74_37 +1 known silent c.235 p.L79 1.000 pfam_ClpP/TepA,prints_ClpP pfam_ClpP/TepA,prints_ClpP - no_errors CLPP HGNC ENSG00000125656 tier1 - - 24 0 0.00 9 16 64.00 CLTCL1 0 genome.wustl.edu 37 22 19170946 19170946 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 19170946 19170946 G A SNP CLTCL1 ENST00000263200 human ensembl 74_37 -1 known missense c.4784 p.A1595V 1.000 pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 tier1 - - 39 0 0.00 21 13 38.24 CMYA5 0 genome.wustl.edu 37 5 79025124 79025124 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 79025124 79025124 C T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.536 p.T179M 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 - - 27 0 0.00 18 8 30.77 CNTLN 0 genome.wustl.edu 37 9 17226202 17226203 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 17226202 17226203 - A INS CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_ins c.451_452 p.Q153fs 1.000:1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 36 0 0.00 34 8 19.05 CNTN3 0 genome.wustl.edu 37 3 74344348 74344348 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 74344348 74344348 A G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.2441 p.L814P 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 CNTN3 HGNC ENSG00000113805 tier1 - - 94 0 0.00 68 24 26.09 CNTN6 0 genome.wustl.edu 37 3 1320162 1320162 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 1320162 1320162 C A SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.424 p.L142I 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 118 0 0.00 68 39 36.45 CNTN6 0 genome.wustl.edu 37 3 1363415 1363415 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 1363415 1363415 C T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.843 p.I281 0.953 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 123 0 0.00 77 45 36.89 CNTNAP4 0 genome.wustl.edu 37 16 76495985 76495985 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 76495985 76495985 G A SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.1463 p.G488D 0.308 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 CNTNAP4 HGNC ENSG00000152910 tier1 - - 28 0 0.00 18 12 40.00 CNTRL 0 genome.wustl.edu 37 9 123931890 123931890 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 123931890 123931890 A G SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known silent c.6072 p.K2024 0.904 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 tier1 - - 50 0 0.00 41 15 26.79 COBL 0 genome.wustl.edu 37 7 51095510 51095511 + Frame_Shift_Ins INS - - T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 51095510 51095511 - T INS COBL ENST00000395542 human ensembl 74_37 -1 known frame_shift_ins c.3529_3528 p.F1176fs 1.000:0.949 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 tier1 162 0 0.00 75 35 31.82 COL21A1 0 genome.wustl.edu 37 6 55923977 55923977 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 55923977 55923977 G T SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.2672 p.P891H 1.000 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 tier1 - - 44 0 0.00 22 11 33.33 COL4A3 0 genome.wustl.edu 37 2 228118841 228118841 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 228118841 228118841 A G SNP COL4A3 ENST00000396578 human ensembl 74_37 +1 known missense c.779 p.E260G 0.999 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 tier1 - - 29 0 0.00 29 7 19.44 COL4A5 0 genome.wustl.edu 37 X 107683365 107683365 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 107683365 107683365 C T SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.10 p.R4C 0.997 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 26 0 0.00 20 9 31.03 COL6A2 0 genome.wustl.edu 37 21 47552287 47552287 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 21 47552287 47552287 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.2881 p.A961T 0.169 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 tier1 - - 48 0 0.00 40 13 24.53 COPB2 0 genome.wustl.edu 37 3 139092617 139092617 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 139092617 139092617 C T SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.785 p.R262Q 1.000 pirsf_COPB2,superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 tier1 - - 70 0 0.00 34 19 35.85 COPS4 0 genome.wustl.edu 37 4 83989622 83989622 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 83989622 83989622 A - DEL COPS4 ENST00000264389 human ensembl 74_37 +1 known frame_shift_del c.1034 p.G346fs 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors COPS4 HGNC ENSG00000138663 tier1 93 0 0.00 61 27 30.68 COQ6 0 genome.wustl.edu 37 14 74422589 74422589 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 74422589 74422589 G A SNP COQ6 ENST00000334571 human ensembl 74_37 +1 known missense c.439 p.V147I 1.000 tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases - no_errors COQ6 HGNC ENSG00000119723 tier1 - - 133 0 0.00 85 37 30.08 CPLX3 0 genome.wustl.edu 37 15 75122526 75122526 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 75122526 75122526 G A SNP CPLX3 ENST00000395018 human ensembl 74_37 +1 known missense c.308 p.R103Q 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX3 HGNC ENSG00000213578 tier1 rs144213956 - 44 0 0.00 30 5 14.29 CPT1C 0 genome.wustl.edu 37 19 50215096 50215096 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 50215096 50215096 G A SNP CPT1C ENST00000323446 human ensembl 74_37 +1 known missense c.1897 p.A633T 0.998 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 tier1 - - 83 0 0.00 29 27 48.21 CRYGA 0 genome.wustl.edu 37 2 209028003 209028003 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 209028003 209028003 G A SNP CRYGA ENST00000304502 human ensembl 74_37 -1 known silent c.177 p.R59 0.013 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 tier1 - - 54 0 0.00 41 16 28.07 CSE1L 0 genome.wustl.edu 37 20 47700644 47700644 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 47700644 47700644 G A SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known missense c.1564 p.A522T 1.000 pfam_Cse1,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 tier1 - - 65 0 0.00 73 26 26.26 CSF1R 0 genome.wustl.edu 37 5 149447883 149447883 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 149447883 149447883 C T SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known silent c.1521 p.T507 0.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 tier1 - - 36 0 0.00 28 12 30.00 CSMD1 0 genome.wustl.edu 37 8 2976083 2976083 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 2976083 2976083 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.6271 p.P2091S 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 83 0 0.00 79 30 27.52 CSMD3 0 genome.wustl.edu 37 8 113697800 113697800 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 113697800 113697800 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2317 p.D773Y 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 106 0 0.00 72 21 22.58 CSPG4 0 genome.wustl.edu 37 15 75983101 75983101 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 75983101 75983101 G A SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.305 p.T102M 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 111 0 0.00 45 23 33.82 CSPP1 0 genome.wustl.edu 37 8 68076631 68076631 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 68076631 68076631 A - DEL CSPP1 ENST00000262210 human ensembl 74_37 +1 known frame_shift_del c.2701 p.N903fs 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 tier1 74 0 0.00 73 15 17.05 CSTF3 0 genome.wustl.edu 37 11 33106697 33106697 + Missense_Mutation SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 33106697 33106697 T G SNP CSTF3 ENST00000323959 human ensembl 74_37 -1 known missense c.2090 p.K697T 1.000 NULL pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 90 0 0.00 92 5 5.15 CTPS1 0 genome.wustl.edu 37 1 41463073 41463073 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 41463073 41463073 C T SNP CTPS1 ENST00000372616 human ensembl 74_37 +1 known missense c.880 p.R294C 0.987 tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS1 HGNC ENSG00000171793 tier1 - - 157 0 0.00 79 42 34.71 CUL2 0 genome.wustl.edu 37 10 35351915 35351916 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 35351915 35351916 - A INS CUL2 ENST00000537177 human ensembl 74_37 -1 known frame_shift_ins c.252_251 p.L84fs 1.000:1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL2 HGNC ENSG00000108094 tier1 46 0 0.00 47 13 21.67 CYP11B1 0 genome.wustl.edu 37 8 143957293 143957293 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 143957293 143957293 G A SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.956 p.T319M 0.992 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 tier1 rs104894068 - 118 0 0.00 124 39 23.93 CYP26A1 0 genome.wustl.edu 37 10 94834243 94834243 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 94834243 94834243 G A SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.368 p.G123D 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 tier1 - - 240 0 0.00 150 77 33.92 DCAF12L1 0 genome.wustl.edu 37 X 125686484 125686484 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 125686484 125686484 C T SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known silent c.108 p.P36 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 60 0 0.00 50 18 26.47 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 tier1 62 0 0.00 50 10 16.67 DCAF8L2 0 genome.wustl.edu 37 X 27766119 27766119 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 27766119 27766119 G A SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known silent c.1107 p.L369 0.966 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 tier1 - - 40 0 0.00 38 15 28.30 DCAKD 0 genome.wustl.edu 37 17 43102057 43102057 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 43102057 43102057 C T SNP DCAKD ENST00000342350 human ensembl 74_37 -1 known missense c.440 p.R147Q 1.000 pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase - no_errors DCAKD HGNC ENSG00000172992 tier1 - - 99 0 0.00 72 23 24.21 DCST2 0 genome.wustl.edu 37 1 154998825 154998825 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 154998825 154998825 G A SNP DCST2 ENST00000368424 human ensembl 74_37 -1 known missense c.1564 p.R522W 0.990 pfam_DC_STAMP-like pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 tier1 rs4845403 - 80 0 0.00 43 22 33.33 DCX 0 genome.wustl.edu 37 X 110555930 110555930 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 110555930 110555930 G - DEL DCX ENST00000338081 human ensembl 74_37 -1 known frame_shift_del c.1209 p.K404fs 1.000 pirsf_Doublecortin_chordata pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 tier1 53 0 0.00 42 13 23.64 DDC 0 genome.wustl.edu 37 7 50531075 50531075 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 50531075 50531075 T - DEL DDC ENST00000357936 human ensembl 74_37 -1 known frame_shift_del c.1297 p.I433fs 1.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 tier1 60 0 0.00 30 16 34.78 DDX52 0 genome.wustl.edu 37 17 36002277 36002278 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 36002277 36002278 - A INS DDX52 ENST00000349699 human ensembl 74_37 -1 known frame_shift_ins c.148_147 p.G49fs 1.000:1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX52 HGNC ENSG00000141141 tier1 89 0 0.00 66 22 25.00 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 tier1 107 0 0.00 96 33 25.58 DHRS3 0 genome.wustl.edu 37 1 12638830 12638830 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 12638830 12638830 C T SNP DHRS3 ENST00000376223 human ensembl 74_37 -1 known missense c.614 p.G205E 1.000 smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS3 HGNC ENSG00000162496 tier1 - - 26 0 0.00 26 13 33.33 DLC1 0 genome.wustl.edu 37 8 12957134 12957134 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 12957134 12957134 G A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.2712 p.P904 0.003 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 41 0 0.00 17 13 43.33 DLG5 0 genome.wustl.edu 37 10 79595502 79595502 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 79595502 79595502 C T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.1616 p.S539N 1.000 NULL pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 tier1 - - 27 0 0.00 20 10 33.33 DLX2 0 genome.wustl.edu 37 2 172966312 172966312 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 172966312 172966312 G T SNP DLX2 ENST00000234198 human ensembl 74_37 -1 known missense c.463 p.P155T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX2 HGNC ENSG00000115844 tier1 - - 48 0 0.00 33 20 37.74 DMWD 0 genome.wustl.edu 37 19 46289555 46289555 + Missense_Mutation SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 46289555 46289555 T G SNP DMWD ENST00000270223 human ensembl 74_37 -1 known missense c.1199 p.E400A 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 tier1 - - 63 0 0.00 48 11 18.64 DNA2 0 genome.wustl.edu 37 10 70182521 70182521 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 70182521 70182521 A - DEL DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_del c.2593 p.S865fs 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 tier1 29 0 0.00 31 12 27.91 DNAH11 0 genome.wustl.edu 37 7 21659621 21659621 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 21659621 21659621 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known silent c.4440 p.Y1480 0.983 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 tier1 - - 74 0 0.00 56 22 27.85 DNAH2 0 genome.wustl.edu 37 17 7689440 7689440 + Splice_Site SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 7689440 7689440 A G SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known splice_site c.6130-2 e39-2 1.000 - - - no_errors DNAH2 HGNC ENSG00000183914 tier1 - - 69 0 0.00 37 20 35.09 DNAH2 0 genome.wustl.edu 37 17 7707737 7707737 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 7707737 7707737 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known silent c.9136 p.L3046 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 tier1 - - 35 0 0.00 21 16 43.24 DNAH2 0 genome.wustl.edu 37 17 7722600 7722600 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 7722600 7722600 T C SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.10889 p.M3630T 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 tier1 - - 78 0 0.00 51 29 35.80 DNAH3 0 genome.wustl.edu 37 16 21156687 21156687 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 21156687 21156687 C T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.263 p.R88H 0.993 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 32 0 0.00 23 12 34.29 DNAJB3 0 genome.wustl.edu 37 2 234652187 234652188 + RNA INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 234652187 234652188 - C INS DNAJB3 ENST00000449667 human ensembl 74_37 -1 known rna NULL NULL 0.050:0.014 - - - no_errors DNAJB3 HGNC ENSG00000227802 tier1 59 0 0.00 40 12 23.08 DOCK3 0 genome.wustl.edu 37 3 51393542 51393542 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 51393542 51393542 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.4272 p.T1424 0.508 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 tier1 - - 116 0 0.00 77 33 30.00 DOT1L 0 genome.wustl.edu 37 19 2217874 2217874 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 2217874 2217874 T C SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known missense c.2648 p.I883T 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 tier1 - - 17 0 0.00 13 6 31.58 DPF2 0 genome.wustl.edu 37 11 65119171 65119171 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 65119171 65119171 C A SNP DPF2 ENST00000528416 human ensembl 74_37 +1 known missense c.1117 p.L373M 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF2 HGNC ENSG00000133884 tier1 - - 109 0 0.00 99 36 26.67 DPYD 0 genome.wustl.edu 37 1 97770821 97770821 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 97770821 97770821 C T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.2293 p.V765M 0.998 pfam_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 tier1 - - 85 0 0.00 45 28 38.36 DSCC1 0 genome.wustl.edu 37 8 120865356 120865357 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 120865356 120865357 - A INS DSCC1 ENST00000313655 human ensembl 74_37 -1 known frame_shift_ins c.282_281 p.I95fs 0.974:1.000 pfam_Sister_chromatid_cohesion_Dcc1 pfam_Sister_chromatid_cohesion_Dcc1 - no_errors DSCC1 HGNC ENSG00000136982 tier1 84 0 0.00 70 14 16.67 DUOXA1 0 genome.wustl.edu 37 15 45413369 45413369 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 45413369 45413369 A G SNP DUOXA1 ENST00000267803 human ensembl 74_37 -1 known missense c.256 p.S86P 0.019 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA1 HGNC ENSG00000140254 tier1 - - 69 0 0.00 33 17 34.00 DUSP10 0 genome.wustl.edu 37 1 221875662 221875662 + RNA DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 221875662 221875662 A - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 42 0 0.00 37 15 28.85 DUSP13 0 genome.wustl.edu 37 10 76861664 76861664 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 76861664 76861664 G A SNP DUSP13 ENST00000491677 human ensembl 74_37 -1 known missense c.347 p.P116L 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA - no_errors DUSP13 HGNC ENSG00000079393 tier1 - - 128 0 0.00 90 34 27.20 DYNC2H1 0 genome.wustl.edu 37 11 103059290 103059290 + Missense_Mutation SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 103059290 103059290 T G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.7205 p.I2402S 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 61 0 0.00 34 18 34.62 EBF1 0 genome.wustl.edu 37 5 158526597 158526597 + RNA DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 158526597 158526597 T - DEL EBF1 ENST00000518836 human ensembl 74_37 -1 known rna NULL NULL 0.941 - - - no_errors EBF1 HGNC ENSG00000164330 tier1 17 0 0.00 15 5 25.00 EEF1A1 0 genome.wustl.edu 37 6 74229174 74229174 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 74229174 74229174 A G SNP EEF1A1 ENST00000309268 human ensembl 74_37 -1 known silent c.210 p.G70 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 tier1 - - 127 0 0.00 91 34 27.20 EFHB 0 genome.wustl.edu 37 3 19956867 19956867 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 19956867 19956867 A G SNP EFHB ENST00000295824 human ensembl 74_37 -1 known missense c.1216 p.Y406H 0.978 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHB HGNC ENSG00000163576 tier1 - - 119 0 0.00 69 35 33.65 EFNA3 0 genome.wustl.edu 37 1 155059035 155059036 + RNA INS - - G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 155059035 155059036 - G INS EFNA3 ENST00000470294 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors EFNA3 HGNC ENSG00000143590 tier1 50 0 0.00 43 9 17.31 EGFLAM-AS1 0 genome.wustl.edu 37 5 38427389 38427389 + RNA DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 38427389 38427389 A - DEL EGFLAM-AS1 ENST00000508986 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EGFLAM-AS1 HGNC ENSG00000249491 tier1 81 0 0.00 63 22 25.88 EGR4 0 genome.wustl.edu 37 2 73518754 73518754 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 73518754 73518754 G A SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known missense c.1601 p.T534I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 tier1 - - 54 0 0.00 32 19 37.25 EHBP1 0 genome.wustl.edu 37 2 63169883 63169883 + Nonsense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 63169883 63169883 C T SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known nonsense c.1321 p.R441* 1.000 superfamily_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 tier1 - - 78 0 0.00 51 21 29.17 EHBP1L1 0 genome.wustl.edu 37 11 65350508 65350508 + Missense_Mutation SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 65350508 65350508 T G SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.2365 p.L789V 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 tier1 - - 29 0 0.00 22 7 24.14 EHMT1 0 genome.wustl.edu 37 9 140728844 140728844 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 140728844 140728844 T C SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.3584 p.V1195A 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 tier1 - - 59 0 0.00 45 8 15.09 EIF5B 0 genome.wustl.edu 37 2 100007095 100007095 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 100007095 100007095 G T SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known missense c.2675 p.G892V 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 tier1 - - 101 0 0.00 67 25 27.17 ELMO1 0 genome.wustl.edu 37 7 36901287 36901287 + Missense_Mutation SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 36901287 36901287 A C SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.1960 p.F654V 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 145 0 0.00 109 42 27.81 ELMOD3 0 genome.wustl.edu 37 2 85581643 85581643 + RNA DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 85581643 85581643 G - DEL ELMOD3 ENST00000462396 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ELMOD3 HGNC ENSG00000115459 tier1 75 0 0.00 44 14 24.14 ENSG00000174171 0 genome.wustl.edu 37 15 42185453 42185453 + RNA SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 42185453 42185453 C A SNP ENSG00000174171 ENST00000309874 human ensembl 74_37 +1 known rna NULL NULL 0.070 - - - no_errors RP11-23P13.6 Clone_based_vega_gene ENSG00000174171 tier1 - - 22 0 0.00 19 7 26.92 ENSG00000199405 0 genome.wustl.edu 37 8 56815414 56815415 + RNA DEL TT TT - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 56815414 56815415 TT - DEL ENSG00000199405 ENST00000362535 human ensembl 74_37 -1 novel rna NULL NULL 0.582:0.596 - - - no_errors SNORA1 RFAM ENSG00000199405 tier1 32 0 0.00 24 9 27.27 ENSG00000213971 0 genome.wustl.edu 37 19 23456919 23456919 + RNA SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 23456919 23456919 G A SNP ENSG00000213971 ENST00000593324 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-15H20.6 Clone_based_vega_gene ENSG00000213971 tier1 - - 14 0 0.00 14 12 46.15 ENSG00000226145 0 genome.wustl.edu 37 17 16725685 16725685 + RNA SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 16725685 16725685 C T SNP ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 0.210 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 tier1 - - 14 0 0.00 9 9 50.00 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263365 + RNA DEL AA AA - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 128263364 128263365 AA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 tier1 58 0 0.00 27 16 37.21 ENSG00000234864 0 genome.wustl.edu 37 10 43199560 43199560 + RNA SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 43199560 43199560 C T SNP ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.989 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 tier1 - - 79 0 0.00 64 32 33.33 ENSG00000239126 0 genome.wustl.edu 37 3 4920367 4920367 + RNA SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 4920367 4920367 C T SNP ENSG00000239126 ENST00000459040 human ensembl 74_37 -1 novel rna NULL NULL 0.003 - - - no_errors snoU13 RFAM ENSG00000239126 tier1 - - 30 0 0.00 26 7 21.21 ENSG00000239969 0 genome.wustl.edu 37 7 102021057 102021057 + RNA DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 102021057 102021057 A - DEL ENSG00000239969 ENST00000484974 human ensembl 74_37 +1 known rna NULL NULL 0.079 - - - no_errors RP11-163E9.2 Clone_based_vega_gene ENSG00000239969 tier1 78 0 0.00 57 20 25.97 ENSG00000252923 0 genome.wustl.edu 37 2 197550955 197550957 + RNA DEL CTC CTC - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 197550955 197550957 CTC - DEL ENSG00000252923 ENST00000517114 human ensembl 74_37 -1 novel rna NULL NULL 0.035:0.036:0.035 - - - no_errors SCARNA16 RFAM ENSG00000252923 tier1 14 0 0.00 12 4 25.00 ENSG00000254815 0 genome.wustl.edu 37 11 558069 558069 + RNA DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 558069 558069 G - DEL ENSG00000254815 ENST00000527620 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-496I9.1 Clone_based_vega_gene ENSG00000254815 tier1 43 0 0.00 38 13 25.49 ENSG00000257434 0 genome.wustl.edu 37 12 75435987 75435987 + RNA DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 75435987 75435987 T - DEL ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 10 0 0.00 9 4 30.77 ENSG00000258168 0 genome.wustl.edu 37 12 70932105 70932105 + RNA SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 70932105 70932105 C T SNP ENSG00000258168 ENST00000546836 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-588H23.3 Clone_based_vega_gene ENSG00000258168 tier1 - - 12 0 0.00 6 4 40.00 ENSG00000271976 0 genome.wustl.edu 37 3 53894308 53894308 + RNA DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 53894308 53894308 T - DEL ENSG00000271976 ENST00000607783 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-884K10.7 Clone_based_vega_gene ENSG00000271976 tier1 34 0 0.00 28 3 9.68 ENTPD6 0 genome.wustl.edu 37 20 25187923 25187924 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 25187923 25187924 - C INS ENTPD6 ENST00000376652 human ensembl 74_37 +1 known frame_shift_ins c.266_267 p.L91fs 0.000:0.000 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD6 HGNC ENSG00000197586 tier1 60 0 0.00 41 20 32.79 EP300 0 genome.wustl.edu 37 22 41568501 41568501 + Splice_Site SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 41568501 41568501 A G SNP EP300 ENST00000263253 human ensembl 74_37 +1 known splice_site c.4453-2 e28-2 0.999 - - - no_errors EP300 HGNC ENSG00000100393 tier1 - - 88 0 0.00 44 16 26.67 EPHA4 0 genome.wustl.edu 37 2 222428529 222428529 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 222428529 222428529 C T SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.745 p.A249T 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 tier1 - - 88 0 0.00 56 26 31.71 EPHA6 0 genome.wustl.edu 37 3 96706591 96706591 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 96706591 96706591 G A SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.868 p.A290T 1.000 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 219 0 0.00 127 60 32.09 EPHA7 0 genome.wustl.edu 37 6 93982014 93982014 + Splice_Site SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 93982014 93982014 A C SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known splice_site c.1449+2 e6+2 1.000 - - - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 115 0 0.00 47 35 42.68 EPX 0 genome.wustl.edu 37 17 56280560 56280560 + Silent SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 56280560 56280560 T C SNP EPX ENST00000225371 human ensembl 74_37 +1 known silent c.1827 p.P609 0.291 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 tier1 - - 170 0 0.00 127 12 8.63 ERBB3 0 genome.wustl.edu 37 12 56481806 56481806 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 56481806 56481806 C T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.734 p.A245V 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_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 ERBB3 HGNC ENSG00000065361 tier1 - - 80 0 0.00 64 19 22.89 ERC2 0 genome.wustl.edu 37 3 56468719 56468719 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 56468719 56468719 G A SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.317 p.S106F 1.000 NULL pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 130 0 0.00 74 37 33.33 ERCC6 0 genome.wustl.edu 37 10 50690757 50690758 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 50690757 50690758 - C INS ERCC6 ENST00000355832 human ensembl 74_37 -1 known frame_shift_ins c.2145_2144 p.Y716fs 0.736:1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 tier1 36 0 0.00 31 15 32.61 ERF 0 genome.wustl.edu 37 19 42753821 42753821 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 42753821 42753821 G A SNP ERF ENST00000222329 human ensembl 74_37 -1 known missense c.443 p.T148M 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 tier1 - - 46 0 0.00 31 18 36.73 ERLIN1 0 genome.wustl.edu 37 10 101945291 101945291 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 101945291 101945291 G A SNP ERLIN1 ENST00000407654 human ensembl 74_37 -1 known silent c.93 p.G31 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors ERLIN1 HGNC ENSG00000107566 tier1 - - 92 0 0.00 71 41 35.96 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 tier1 65 0 0.00 58 21 26.58 ESRP2 0 genome.wustl.edu 37 16 68264452 68264452 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 68264452 68264452 G - DEL ESRP2 ENST00000565858 human ensembl 74_37 -1 known frame_shift_del c.1934 p.P645fs 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 tier1 41 0 0.00 31 6 16.22 EXOC3L1 0 genome.wustl.edu 37 16 67221435 67221435 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 67221435 67221435 G A SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known missense c.733 p.R245C 1.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 tier1 - - 28 0 0.00 37 12 24.49 EXTL3 0 genome.wustl.edu 37 8 28574283 28574283 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 28574283 28574283 G A SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.707 p.C236Y 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 tier1 - - 74 0 0.00 74 27 26.73 EYS 0 genome.wustl.edu 37 6 66012860 66012860 + RNA SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 66012860 66012860 G T SNP EYS ENST00000370615 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors EYS HGNC ENSG00000188107 tier1 - - 28 0 0.00 16 10 38.46 F10 0 genome.wustl.edu 37 13 113803399 113803399 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 13 113803399 113803399 G T SNP F10 ENST00000375559 human ensembl 74_37 +1 known missense c.1035 p.E345D 0.004 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F10 HGNC ENSG00000126218 tier1 - - 76 0 0.00 60 23 27.71 F8A1 0 genome.wustl.edu 37 X 154115732 154115732 + Missense_Mutation SNP A A T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 154115732 154115732 A T SNP F8A1 ENST00000369446 human ensembl 74_37 +1 known missense c.1083 p.Q361H 0.980 NULL NULL - no_errors F8A1 HGNC ENSG00000197932 tier1 - - 110 0 0.00 61 21 25.61 FAM13C 0 genome.wustl.edu 37 10 61014202 61014202 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 61014202 61014202 A G SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.1238 p.V413A 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 tier1 - - 84 0 0.00 60 38 38.78 FAM155A 0 genome.wustl.edu 37 13 108518337 108518338 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 13 108518337 108518338 - C INS FAM155A ENST00000375915 human ensembl 74_37 -1 known frame_shift_ins c.608_607 p.D203fs 0.051:0.252 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 tier1 101 0 0.00 94 19 16.81 FAM196A 0 genome.wustl.edu 37 10 128973811 128973811 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 128973811 128973811 C T SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known silent c.849 p.P283 0.000 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 tier1 - - 33 0 0.00 14 6 30.00 FAM47C 0 genome.wustl.edu 37 X 37027002 37027002 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 37027002 37027002 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known silent c.519 p.D173 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 47 0 0.00 24 11 31.43 FAM9A 0 genome.wustl.edu 37 X 8764320 8764320 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 8764320 8764320 T - DEL FAM9A ENST00000381003 human ensembl 74_37 -1 known frame_shift_del c.477 p.K159fs 0.007 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 tier1 44 0 0.00 40 12 23.08 FANCM 0 genome.wustl.edu 37 14 45645955 45645955 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 45645955 45645955 A - DEL FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_del c.3998 p.V1336fs 0.008 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 55 0 0.00 48 7 12.73 FAR1 0 genome.wustl.edu 37 11 13716475 13716475 + Nonsense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 13716475 13716475 C T SNP FAR1 ENST00000354817 human ensembl 74_37 +1 known nonsense c.163 p.R55* 1.000 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase - no_errors FAR1 HGNC ENSG00000197601 tier1 - - 37 0 0.00 29 7 19.44 FAT1 0 genome.wustl.edu 37 4 187527353 187527353 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 187527353 187527353 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.10221 p.T3407 0.011 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 83 0 0.00 46 21 31.34 FAT4 0 genome.wustl.edu 37 4 126240315 126240315 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 126240315 126240315 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.2749 p.A917S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 64 0 0.00 43 28 39.44 FBXL7 0 genome.wustl.edu 37 5 15937263 15937263 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 15937263 15937263 G A SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known missense c.1444 p.V482I 0.997 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 tier1 - - 21 0 0.00 8 4 33.33 FBXO3 0 genome.wustl.edu 37 11 33777370 33777370 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 33777370 33777370 C T SNP FBXO3 ENST00000265651 human ensembl 74_37 -1 known missense c.625 p.A209T 1.000 smart_SMI1/KNR4_like_dom pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 tier1 - - 88 0 0.00 35 21 37.50 FBXO31 0 genome.wustl.edu 37 16 87364951 87364951 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 87364951 87364951 C T SNP FBXO31 ENST00000311635 human ensembl 74_37 -1 known silent c.1563 p.A521 0.730 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 tier1 - - 29 0 0.00 35 18 33.96 FBXO36 0 genome.wustl.edu 37 2 230787318 230787318 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 230787318 230787318 G T SNP FBXO36 ENST00000283946 human ensembl 74_37 +1 known missense c.89 p.R30L 0.954 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO36 HGNC ENSG00000153832 tier1 - - 50 0 0.00 23 14 37.84 FEN1 0 genome.wustl.edu 37 11 61563798 61563798 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 61563798 61563798 G A SNP FEN1 ENST00000305885 human ensembl 74_37 +1 known missense c.965 p.R322H 1.000 superfamily_5-3_exonuclease_C pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors FEN1 HGNC ENSG00000168496 tier1 - - 29 0 0.00 12 11 47.83 FER1L6 0 genome.wustl.edu 37 8 125072505 125072505 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 125072505 125072505 C T SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.2959 p.P987S 1.000 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 tier1 - - 101 0 0.00 71 19 21.11 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 34205516 34205516 C - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1000 p.S336fs 0.999 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 tier1 81 0 0.00 65 22 25.29 FIBP 0 genome.wustl.edu 37 11 65651889 65651889 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 65651889 65651889 C T SNP FIBP ENST00000533045 human ensembl 74_37 -1 putative missense c.955 p.V319I 0.254 NULL pfam_FIBP - no_errors FIBP HGNC ENSG00000172500 tier1 - - 37 0 0.00 25 4 13.79 FILIP1L 0 genome.wustl.edu 37 3 99568273 99568273 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 99568273 99568273 T - DEL FILIP1L ENST00000354552 human ensembl 74_37 -1 known frame_shift_del c.2247 p.K749fs 1.000 superfamily_Prefoldin pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 tier1 144 0 0.00 87 36 29.27 FIP1L1 0 genome.wustl.edu 37 4 54319188 54319189 + Frame_Shift_Del DEL AG AG - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 54319188 54319189 AG - DEL FIP1L1 ENST00000337488 human ensembl 74_37 +1 known frame_shift_del c.1387_1388 p.D466fs 0.091:0.951 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 tier1 43 0 0.00 32 12 27.27 FLNB-AS1 0 genome.wustl.edu 37 3 58156282 58156282 + RNA SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 58156282 58156282 A G SNP FLNB-AS1 ENST00000488720 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FLNB-AS1 HGNC ENSG00000244161 tier1 - - 16 0 0.00 13 4 23.53 FLNC 0 genome.wustl.edu 37 7 128485198 128485198 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 128485198 128485198 A G SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.3679 p.T1227A 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 tier1 - - 68 0 0.00 24 13 35.14 FMO3 0 genome.wustl.edu 37 1 171061921 171061921 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 171061921 171061921 G T SNP FMO3 ENST00000367755 human ensembl 74_37 +1 known missense c.122 p.W41L 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO3 HGNC ENSG00000007933 tier1 - - 54 0 0.00 31 21 40.38 FN1 0 genome.wustl.edu 37 2 216269246 216269246 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 216269246 216269246 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.3119 p.R1040K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 74 0 0.00 55 25 31.25 FOSL1 0 genome.wustl.edu 37 11 65660629 65660629 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 65660629 65660629 C - DEL FOSL1 ENST00000312562 human ensembl 74_37 -1 known frame_shift_del c.544 p.D182fs 0.008 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL1 HGNC ENSG00000175592 tier1 31 0 0.00 24 12 33.33 FOXG1 0 genome.wustl.edu 37 14 29237056 29237056 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 29237056 29237056 A G SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.571 p.M191V 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXG1 HGNC ENSG00000176165 tier1 - - 38 0 0.00 28 8 22.22 FRY 0 genome.wustl.edu 37 13 32868621 32868621 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 13 32868621 32868621 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.8697 p.T2899 0.939 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 62 0 0.00 36 16 30.77 FSCN3 0 genome.wustl.edu 37 7 127239580 127239580 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 127239580 127239580 C T SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known silent c.1266 p.C422 1.000 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 tier1 - - 83 0 0.00 55 24 30.38 FTSJ3 0 genome.wustl.edu 37 17 61901269 61901269 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 61901269 61901269 G A SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.1198 p.R400C 1.000 NULL pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 tier1 - - 54 0 0.00 42 19 30.16 FUS 0 genome.wustl.edu 37 16 31198124 31198124 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 31198124 31198124 G A SNP FUS ENST00000254108 human ensembl 74_37 +1 known missense c.766 p.G256R 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 tier1 - - 66 0 0.00 36 17 32.08 GABARAPL2 0 genome.wustl.edu 37 16 75611222 75611222 + Silent SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 75611222 75611222 A C SNP GABARAPL2 ENST00000037243 human ensembl 74_37 +1 known silent c.309 p.G103 1.000 pfam_Atg8_fam,pfam_Atg12 pfam_Atg8_fam,pfam_Atg12 - no_errors GABARAPL2 HGNC ENSG00000034713 tier1 - - 96 0 0.00 56 20 26.32 GABBR1 0 genome.wustl.edu 37 6 29591177 29591177 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 29591177 29591177 C T SNP GABBR1 ENST00000377034 human ensembl 74_37 -1 known missense c.868 p.A290T 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 tier1 - - 42 0 0.00 37 17 31.48 GAL3ST2 0 genome.wustl.edu 37 2 242742926 242742926 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 242742926 242742926 G A SNP GAL3ST2 ENST00000192314 human ensembl 74_37 +1 known missense c.542 p.S181N 0.000 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST2 HGNC ENSG00000154252 tier1 - - 36 0 0.00 20 7 25.93 GALE 0 genome.wustl.edu 37 1 24125135 24125135 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 24125135 24125135 G A SNP GALE ENST00000374497 human ensembl 74_37 -1 known silent c.207 p.D69 1.000 pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_Male_sterile_NAD-bd,pfam_PKS_KR,tigrfam_GalE pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_Male_sterile_NAD-bd,pfam_PKS_KR,prints_Nuc_sugar_epim,tigrfam_GalE - no_errors GALE HGNC ENSG00000117308 tier1 - - 29 0 0.00 25 9 26.47 GALNT2 0 genome.wustl.edu 37 1 230371813 230371813 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 230371813 230371813 C T SNP GALNT2 ENST00000366672 human ensembl 74_37 +1 known missense c.428 p.T143M 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT2 HGNC ENSG00000143641 tier1 - - 43 0 0.00 11 5 31.25 GAPVD1 0 genome.wustl.edu 37 9 128111708 128111708 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 128111708 128111708 G A SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known missense c.3290 p.R1097H 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 tier1 - - 101 0 0.00 55 28 33.73 GBF1 0 genome.wustl.edu 37 10 104120909 104120909 + RNA DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 104120909 104120909 A - DEL GBF1 ENST00000476019 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GBF1 HGNC ENSG00000107862 tier1 106 0 0.00 81 35 30.17 GBP1 0 genome.wustl.edu 37 1 89524773 89524773 + RNA SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 89524773 89524773 T C SNP GBP1 ENST00000493139 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors GBP1 HGNC ENSG00000117228 tier1 - - 26 0 0.00 23 20 46.51 GBP5 0 genome.wustl.edu 37 1 89732166 89732166 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 89732166 89732166 T - DEL GBP5 ENST00000343435 human ensembl 74_37 -1 known frame_shift_del c.731 p.K244fs 0.600 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP5 HGNC ENSG00000154451 tier1 127 0 0.00 105 38 26.57 GDF2 0 genome.wustl.edu 37 10 48413908 48413908 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 48413908 48413908 G A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known silent c.960 p.S320 0.002 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 tier1 - - 68 0 0.00 36 31 46.27 GFM1 0 genome.wustl.edu 37 3 158370031 158370031 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 158370031 158370031 T C SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known missense c.836 p.L279S 0.904 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFG/EF2 pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 tier1 - - 68 0 0.00 49 16 24.62 GGT5 0 genome.wustl.edu 37 22 24622164 24622165 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 24622164 24622165 - C INS GGT5 ENST00000398292 human ensembl 74_37 -1 known frame_shift_ins c.1109_1108 p.D370fs 1.000:0.992 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT5 HGNC ENSG00000099998 tier1 52 0 0.00 40 13 24.53 GJA5 0 genome.wustl.edu 37 1 147230644 147230644 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 147230644 147230644 T C SNP GJA5 ENST00000271348 human ensembl 74_37 -1 known missense c.703 p.R235G 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40 - no_errors GJA5 HGNC ENSG00000143140 tier1 - - 44 0 0.00 28 20 41.67 GLRX2 0 genome.wustl.edu 37 1 193065778 193065778 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 193065778 193065778 T - DEL GLRX2 ENST00000367440 human ensembl 74_37 -1 known frame_shift_del c.475 p.S159fs 0.039 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir - no_errors GLRX2 HGNC ENSG00000023572 tier1 65 0 0.00 41 16 28.07 GMIP 0 genome.wustl.edu 37 19 19753372 19753372 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 19753372 19753372 C A SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.76 p.D26Y 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 tier1 - - 103 0 0.00 75 38 33.63 GNAS 0 genome.wustl.edu 37 20 57415654 57415654 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 57415654 57415654 G A SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.493 p.A165T 0.064 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 tier1 - - 35 0 0.00 20 13 39.39 GNB3 0 genome.wustl.edu 37 12 6952826 6952828 + In_Frame_Del DEL ACA ACA - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 6952826 6952828 ACA - DEL GNB3 ENST00000229264 human ensembl 74_37 +1 known in_frame_del c.461_463 p.N156in_frame_del 1.000:1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep - no_errors GNB3 HGNC ENSG00000111664 tier1 47 0 0.00 43 13 23.21 GNG12 0 genome.wustl.edu 37 1 68171151 68171151 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 68171151 68171151 T - DEL GNG12 ENST00000370982 human ensembl 74_37 -1 known frame_shift_del c.202 p.T68fs 1.000 smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG12 HGNC ENSG00000172380 tier1 82 0 0.00 60 15 20.00 GNG2 0 genome.wustl.edu 37 14 52433395 52433395 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 52433395 52433395 C T SNP GNG2 ENST00000335281 human ensembl 74_37 +1 known missense c.206 p.A69V 1.000 smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG2 HGNC ENSG00000186469 tier1 - - 114 0 0.00 81 23 22.12 GNS 0 genome.wustl.edu 37 12 65141614 65141616 + In_Frame_Del DEL TGT TGT - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 65141614 65141616 TGT - DEL GNS ENST00000258145 human ensembl 74_37 -1 known in_frame_del c.337_335 p.N112in_frame_del 1.000:1.000:1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 tier1 141 0 0.00 126 43 25.44 GOLGA1 0 genome.wustl.edu 37 9 127662755 127662755 + Silent SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 127662755 127662755 G T SNP GOLGA1 ENST00000373555 human ensembl 74_37 -1 known silent c.1137 p.A379 0.005 superfamily_Prefoldin pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 tier1 - - 48 0 0.00 21 10 32.26 GOLGA2 0 genome.wustl.edu 37 9 131019932 131019932 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 131019932 131019932 C T SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.2585 p.R862Q 0.061 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 tier1 - - 156 0 0.00 91 55 37.67 GORASP1 0 genome.wustl.edu 37 3 39142120 39142120 + RNA SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 39142120 39142120 A G SNP GORASP1 ENST00000489587 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors GORASP1 HGNC ENSG00000114745 tier1 - - 20 0 0.00 21 12 36.36 GPR112 0 genome.wustl.edu 37 X 135482192 135482192 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 135482192 135482192 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.8492 p.A2831V 0.978 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 101 0 0.00 61 43 41.35 GPR115 0 genome.wustl.edu 37 6 47678561 47678561 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 47678561 47678561 A - DEL GPR115 ENST00000371220 human ensembl 74_37 +1 known frame_shift_del c.410 p.K139fs 0.923 prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 tier1 88 0 0.00 67 18 21.18 GPR115 0 genome.wustl.edu 37 6 47681947 47681947 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 47681947 47681947 A G SNP GPR115 ENST00000371220 human ensembl 74_37 +1 known silent c.1137 p.S379 0.841 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 tier1 - - 56 0 0.00 42 30 41.67 GPR137 0 genome.wustl.edu 37 11 64056555 64056555 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 64056555 64056555 C T SNP GPR137 ENST00000438980 human ensembl 74_37 +1 known missense c.1078 p.R360C 0.993 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 tier1 - - 8 0 0.00 8 6 42.86 GPR158 0 genome.wustl.edu 37 10 25464703 25464703 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 25464703 25464703 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.354 p.A118 0.994 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 tier1 - - 82 0 0.00 64 26 28.89 GPR17 0 genome.wustl.edu 37 2 128409083 128409083 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 128409083 128409083 C T SNP GPR17 ENST00000272644 human ensembl 74_37 +1 known silent c.858 p.Y286 1.000 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_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 tier1 - - 39 0 0.00 26 15 36.59 GPR179 0 genome.wustl.edu 37 17 36485569 36485569 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 36485569 36485569 C T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.3883 p.G1295R 0.046 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 52 0 0.00 28 10 26.32 GPR4 0 genome.wustl.edu 37 19 46094647 46094647 + Nonsense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 46094647 46094647 G A SNP GPR4 ENST00000323040 human ensembl 74_37 -1 known nonsense c.478 p.R160* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR4 HGNC ENSG00000177464 tier1 - - 118 0 0.00 93 33 26.19 GPR98 0 genome.wustl.edu 37 5 90124781 90124781 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 90124781 90124781 T - DEL GPR98 ENST00000405460 human ensembl 74_37 +1 known frame_shift_del c.16389 p.F5465fs 0.351 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 37 0 0.00 24 11 31.43 GPRC5C 0 genome.wustl.edu 37 17 72436022 72436023 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 72436022 72436023 - C INS GPRC5C ENST00000392627 human ensembl 74_37 +1 known frame_shift_ins c.242_243 p.L83fs 0.990:0.997 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPRC5C HGNC ENSG00000170412 tier1 60 0 0.00 37 22 37.29 GPRIN1 0 genome.wustl.edu 37 5 176026665 176026665 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 176026665 176026665 G - DEL GPRIN1 ENST00000303991 human ensembl 74_37 -1 known frame_shift_del c.171 p.R58fs 0.001 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 tier1 106 0 0.00 68 16 19.05 GRHL1 0 genome.wustl.edu 37 2 10105453 10105453 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 10105453 10105453 C T SNP GRHL1 ENST00000324907 human ensembl 74_37 +1 known silent c.1053 p.I351 0.951 pfam_CP2 pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 tier1 - - 101 0 0.00 61 17 21.79 GRID2 0 genome.wustl.edu 37 4 93225753 93225753 + RNA DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 93225753 93225753 A - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRID2 HGNC ENSG00000152208 tier1 10 0 0.00 10 12 54.55 GRIK3 0 genome.wustl.edu 37 1 37319219 37319219 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 37319219 37319219 C T SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known silent c.1209 p.E403 0.997 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 tier1 - - 49 0 0.00 35 11 23.91 GRIN2B 0 genome.wustl.edu 37 12 13720077 13720077 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 13720077 13720077 G T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.2480 p.A827E 1.000 pfam_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 tier1 - - 102 0 0.00 36 30 44.78 GRINA 0 genome.wustl.edu 37 8 145065456 145065457 + Frame_Shift_Ins INS - - G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 145065456 145065457 - G INS GRINA ENST00000313269 human ensembl 74_37 +1 known frame_shift_ins c.65_66 p.P25fs 1.000:0.997 NULL pfam_Bax_inhibitor_1-related - no_errors GRINA HGNC ENSG00000178719 tier1 32 0 0.00 31 7 18.42 GRK4 0 genome.wustl.edu 37 4 3040280 3040281 + RNA DEL AA AA - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 3040280 3040281 AA - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.003 - - - no_errors GRK4 HGNC ENSG00000125388 tier1 54 0 0.00 24 26 52.00 GSE1 0 genome.wustl.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 85682289 85682290 - C INS GSE1 ENST00000253458 human ensembl 74_37 +1 known frame_shift_ins c.358_359 p.V123fs 1.000:0.999 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 tier1 86 0 0.00 63 16 20.25 HDAC9 0 genome.wustl.edu 37 7 18631237 18631237 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 18631237 18631237 G A SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.514 p.V172M 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 tier1 - - 43 0 0.00 41 12 22.64 HDGFRP2 0 genome.wustl.edu 37 19 4491823 4491824 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 4491823 4491824 - A INS HDGFRP2 ENST00000301284 human ensembl 74_37 +1 known frame_shift_ins c.669_670 p.K226fs 0.954:0.997 NULL pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP2 Uniprot_gn ENSG00000167674 tier1 81 0 0.00 69 20 22.47 HEATR6 0 genome.wustl.edu 37 17 58149610 58149610 + Missense_Mutation SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 58149610 58149610 T G SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known missense c.665 p.K222T 0.984 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 tier1 - - 43 0 0.00 31 16 34.04 HECW2 0 genome.wustl.edu 37 2 197187274 197187274 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 197187274 197187274 C T SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.812 p.R271H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 tier1 - - 157 0 0.00 134 50 27.17 HERC1 0 genome.wustl.edu 37 15 63966705 63966705 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 63966705 63966705 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.7682 p.A2561V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 38 0 0.00 15 9 37.50 HERC2P9 0 genome.wustl.edu 37 15 28903788 28903788 + RNA SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 28903788 28903788 G A SNP HERC2P9 ENST00000528584 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HERC2P9 HGNC ENSG00000206149 tier1 - - 32 0 0.00 13 14 51.85 HERC4 0 genome.wustl.edu 37 10 69714239 69714239 + RNA SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 69714239 69714239 T G SNP HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors HERC4 HGNC ENSG00000148634 tier1 - - 30 0 0.00 29 6 17.14 HEXIM1 0 genome.wustl.edu 37 17 43227397 43227397 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 43227397 43227397 G A SNP HEXIM1 ENST00000332499 human ensembl 74_37 +1 known silent c.840 p.Q280 1.000 NULL NULL - no_errors HEXIM1 HGNC ENSG00000186834 tier1 - - 63 0 0.00 43 31 41.89 HGF 0 genome.wustl.edu 37 7 81358957 81358957 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 81358957 81358957 T C SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.1004 p.H335R 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 tier1 - - 90 0 0.00 61 33 35.11 HIST1H1B 0 genome.wustl.edu 37 6 27835034 27835034 + Missense_Mutation SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 27835034 27835034 T G SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.274 p.S92R 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 tier1 - - 231 0 0.00 139 53 27.60 HIVEP1 0 genome.wustl.edu 37 6 12122680 12122680 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 12122680 12122680 C T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known silent c.2652 p.N884 0.020 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 tier1 - - 111 0 0.00 80 37 31.62 HK3 0 genome.wustl.edu 37 5 176314514 176314514 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 176314514 176314514 C T SNP HK3 ENST00000292432 human ensembl 74_37 -1 known missense c.1538 p.R513Q 0.011 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 tier1 - - 35 0 0.00 21 11 34.38 HLA-B 0 genome.wustl.edu 37 6 31323363 31323363 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 31323363 31323363 G - DEL HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_del c.626 p.P209fs 0.142 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 tier1 150 0 0.00 114 34 22.97 HLA-L 0 genome.wustl.edu 37 6 30227677 30227677 + RNA SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 30227677 30227677 C T SNP HLA-L ENST00000482052 human ensembl 74_37 +1 known rna NULL NULL 0.421 - - - no_errors HLA-L HGNC ENSG00000243753 tier1 - - 26 0 0.00 22 7 24.14 HNRNPH3 0 genome.wustl.edu 37 10 70097823 70097824 + RNA INS - - G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 70097823 70097824 - G INS HNRNPH3 ENST00000469172 human ensembl 74_37 +1 known rna NULL NULL 0.959:1.000 - - - no_errors HNRNPH3 HGNC ENSG00000096746 tier1 18 0 0.00 18 4 18.18 HRAS 0 genome.wustl.edu 37 11 532607 532607 + RNA SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 532607 532607 G A SNP HRAS ENST00000478324 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HRAS HGNC ENSG00000174775 tier1 - - 10 0 0.00 8 4 33.33 HS6ST2 0 genome.wustl.edu 37 X 132092475 132092475 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 132092475 132092475 C T SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known silent c.156 p.A52 0.974 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 tier1 - - 17 0 0.00 8 7 46.67 HSP90AA4P 0 genome.wustl.edu 37 4 190394392 190394392 + RNA SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 190394392 190394392 G T SNP HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 tier1 - - 58 0 0.00 54 10 15.62 HUS1B 0 genome.wustl.edu 37 6 656426 656426 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 656426 656426 C T SNP HUS1B ENST00000380907 human ensembl 74_37 -1 known silent c.519 p.A173 0.000 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC ENSG00000188996 tier1 - - 174 0 0.00 101 63 38.41 HUWE1 0 genome.wustl.edu 37 X 53578325 53578326 + Frame_Shift_Ins INS - - G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 53578325 53578326 - G INS HUWE1 ENST00000262854 human ensembl 74_37 -1 known frame_shift_ins c.8998_8997 p.S2999fs 0.060:0.020 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 17 0 0.00 16 4 20.00 IARS2 0 genome.wustl.edu 37 1 220284281 220284281 + Splice_Site SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 220284281 220284281 T C SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known splice_site c.1479+2 e11+2 1.000 - - - no_errors IARS2 HGNC ENSG00000067704 tier1 - - 62 0 0.00 44 24 35.29 IDS 0 genome.wustl.edu 37 X 148586602 148586602 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 148586602 148586602 G A SNP IDS ENST00000340855 human ensembl 74_37 -1 known silent c.66 p.V22 0.000 NULL pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC ENSG00000010404 tier1 - - 62 0 0.00 61 15 19.48 IFT20 0 genome.wustl.edu 37 17 26656207 26656207 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 26656207 26656207 C T SNP IFT20 ENST00000357896 human ensembl 74_37 -1 known missense c.427 p.A143T 1.000 NULL NULL - no_errors IFT20 HGNC ENSG00000109083 tier1 - - 197 0 0.00 120 29 19.46 IGFBP1 0 genome.wustl.edu 37 7 45928286 45928286 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 45928286 45928286 T C SNP IGFBP1 ENST00000275525 human ensembl 74_37 +1 known missense c.35 p.V12A 0.010 NULL pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP1 - no_errors IGFBP1 HGNC ENSG00000146678 tier1 - - 12 0 0.00 11 5 31.25 IGSF11 0 genome.wustl.edu 37 3 118621797 118621797 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 118621797 118621797 A G SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known missense c.866 p.L289P 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 tier1 - - 57 0 0.00 44 23 34.33 IGSF3 0 genome.wustl.edu 37 1 117122237 117122237 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 117122237 117122237 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.3171 p.G1057 0.963 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 30 0 0.00 21 8 26.67 IGSF3 0 genome.wustl.edu 37 1 117156603 117156603 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 117156603 117156603 A G SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known missense c.616 p.S206P 0.997 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 56 0 0.00 41 15 26.79 IKBKB 0 genome.wustl.edu 37 8 42178258 42178258 + Nonsense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 42178258 42178258 C T SNP IKBKB ENST00000520655 human ensembl 74_37 +1 known nonsense c.1522 p.R508* 0.526 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 tier1 rs202131707 - 69 0 0.00 62 34 35.42 IL17RB 0 genome.wustl.edu 37 3 53889347 53889347 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 53889347 53889347 A - DEL IL17RB ENST00000288167 human ensembl 74_37 +1 known frame_shift_del c.508 p.K172fs 0.036 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 tier1 147 0 0.00 87 28 24.35 IMPG2 0 genome.wustl.edu 37 3 100951711 100951711 + Silent SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 100951711 100951711 G T SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known silent c.3147 p.P1049 0.999 pfscan_EG-like_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 tier1 - - 49 0 0.00 32 21 39.62 INMT 0 genome.wustl.edu 37 7 30795536 30795536 + RNA SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 30795536 30795536 G A SNP INMT ENST00000484180 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors INMT HGNC ENSG00000241644 tier1 - - 26 0 0.00 18 13 41.94 INPP5A 0 genome.wustl.edu 37 10 134540479 134540479 + RNA SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 134540479 134540479 C T SNP INPP5A ENST00000487614 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors INPP5A HGNC ENSG00000068383 tier1 - - 28 0 0.00 10 12 54.55 INSR 0 genome.wustl.edu 37 19 7117215 7117215 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 7117215 7117215 T C SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.4001 p.H1334R 0.996 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 tier1 - - 67 0 0.00 41 14 25.45 INSR 0 genome.wustl.edu 37 19 7166172 7166175 + Frame_Shift_Del DEL ATCT ATCT - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 ATCT ATCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 7166172 7166175 ATCT - DEL INSR ENST00000302850 human ensembl 74_37 -1 known frame_shift_del c.1854_1851 p.D618fs 0.997:1.000:1.000:1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 tier1 70 0 0.00 34 12 26.09 IQGAP1 0 genome.wustl.edu 37 15 91009534 91009534 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 91009534 91009534 T C SNP IQGAP1 ENST00000268182 human ensembl 74_37 +1 known missense c.1901 p.V634A 0.997 superfamily_P-loop_NTPase pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_WW_dom,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP1 HGNC ENSG00000140575 tier1 - - 104 0 0.00 56 31 35.63 IRX1 0 genome.wustl.edu 37 5 3596413 3596413 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 3596413 3596413 C T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.194 p.A65V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 tier1 - - 9 0 0.00 3 4 57.14 ITGA11 0 genome.wustl.edu 37 15 68624271 68624271 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 68624271 68624271 G - DEL ITGA11 ENST00000315757 human ensembl 74_37 -1 known frame_shift_del c.1696 p.L566fs 0.891 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 tier1 20 0 0.00 17 3 15.00 ITIH2 0 genome.wustl.edu 37 10 7786853 7786853 + Silent SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 7786853 7786853 C A SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known silent c.2508 p.P836 0.000 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 tier1 - - 71 0 0.00 48 30 37.97 ITIH6 0 genome.wustl.edu 37 X 54784866 54784866 + Silent SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 54784866 54784866 A C SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known silent c.1641 p.G547 1.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 tier1 - - 20 0 0.00 20 5 20.00 JARID2 0 genome.wustl.edu 37 6 15496722 15496722 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 15496722 15496722 G - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.1266 p.R425fs 0.963 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 45 0 0.00 43 17 28.33 JDP2 0 genome.wustl.edu 37 14 75904683 75904683 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 75904683 75904683 C - DEL JDP2 ENST00000267569 human ensembl 74_37 +1 known frame_shift_del c.93 p.L33fs 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors JDP2 HGNC ENSG00000140044 tier1 12 0 0.00 12 5 29.41 KAL1 0 genome.wustl.edu 37 X 8699940 8699940 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 8699940 8699940 G A SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known silent c.138 p.R46 0.999 NULL pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 tier1 - - 21 0 0.00 10 7 41.18 KANK1 0 genome.wustl.edu 37 9 732418 732418 + Missense_Mutation SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 732418 732418 A C SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.3046 p.S1016R 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 tier1 - - 80 0 0.00 56 22 28.21 KANK4 0 genome.wustl.edu 37 1 62740528 62740528 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 62740528 62740528 G - DEL KANK4 ENST00000371153 human ensembl 74_37 -1 known frame_shift_del c.248 p.P83fs 0.017 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 tier1 107 0 0.00 95 37 28.03 KAZN 0 genome.wustl.edu 37 1 14925622 14925622 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 14925622 14925622 C T SNP KAZN ENST00000376030 human ensembl 74_37 +1 known silent c.129 p.G43 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 tier1 - - 23 0 0.00 7 9 56.25 KCNAB1 0 genome.wustl.edu 37 3 156009837 156009837 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 156009837 156009837 G A SNP KCNAB1 ENST00000302490 human ensembl 74_37 +1 known silent c.141 p.A47 0.856 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 tier1 - - 66 0 0.00 37 15 28.85 KCNB1 0 genome.wustl.edu 37 20 47990120 47990120 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 47990120 47990120 A G SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known silent c.1977 p.S659 0.984 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_Kv2.1,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 KCNB1 HGNC ENSG00000158445 tier1 - - 59 0 0.00 43 24 35.82 KCNB2 0 genome.wustl.edu 37 8 73848914 73848914 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 73848914 73848914 C T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.1324 p.R442W 1.000 NULL 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 - - 101 0 0.00 110 14 11.29 KCNG2 0 genome.wustl.edu 37 18 77659467 77659467 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 77659467 77659467 G A SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known missense c.1052 p.R351H 0.995 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 tier1 - - 31 0 0.00 20 16 44.44 KCNH1 0 genome.wustl.edu 37 1 210857289 210857289 + Missense_Mutation SNP C C G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 210857289 210857289 C G SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known missense c.2304 p.K768N 1.000 NULL 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 - - 29 0 0.00 25 11 30.56 KCNH7 0 genome.wustl.edu 37 2 163253453 163253453 + Missense_Mutation SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 163253453 163253453 T G SNP KCNH7 ENST00000332142 human ensembl 74_37 -1 known missense c.2410 p.K804Q 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 tier1 - - 43 0 0.00 28 12 30.00 KCNJ2 0 genome.wustl.edu 37 17 68171653 68171653 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 68171653 68171653 T C SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known missense c.473 p.V158A 0.998 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 tier1 - - 95 0 0.00 68 36 34.62 KCNJ3 0 genome.wustl.edu 37 2 155555857 155555857 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 155555857 155555857 C T SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known silent c.570 p.R190 0.996 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 tier1 - - 48 0 0.00 39 12 23.53 KCNMA1 0 genome.wustl.edu 37 10 78771791 78771791 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 78771791 78771791 A - DEL KCNMA1 ENST00000406533 human ensembl 74_37 -1 known frame_shift_del c.2038 p.Y680fs 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 66 0 0.00 36 13 26.53 KCNQ3 0 genome.wustl.edu 37 8 133141789 133141789 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 133141789 133141789 C T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.2339 p.R780H 1.000 pfam_Ankyrin-G_BS pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 39 0 0.00 38 9 19.15 KCTD8 0 genome.wustl.edu 37 4 44450078 44450078 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 44450078 44450078 A G SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.463 p.S155P 1.000 superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 tier1 - - 22 0 0.00 24 14 36.84 KDELC1 0 genome.wustl.edu 37 13 103440189 103440189 + Missense_Mutation SNP A A T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 13 103440189 103440189 A T SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known missense c.1378 p.F460I 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 tier1 - - 77 0 0.00 47 19 28.36 KDM6A 0 genome.wustl.edu 37 X 44942753 44942754 + In_Frame_Ins INS - - GTC TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 44942753 44942754 - GTC INS KDM6A ENST00000382899 human ensembl 74_37 +1 known in_frame_ins c.3354_3355 p.1120in_frame_insV 0.983:1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 tier1 47 0 0.00 50 7 12.28 KGFLP2 0 genome.wustl.edu 37 9 41962645 41962645 + RNA SNP C C G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 41962645 41962645 C G SNP KGFLP2 ENST00000454645 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 tier1 - - 97 0 0.00 73 10 12.05 KHDC3L 0 genome.wustl.edu 37 6 74073496 74073496 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 74073496 74073496 G A SNP KHDC3L ENST00000370367 human ensembl 74_37 +1 known silent c.567 p.S189 0.000 NULL NULL - no_errors KHDC3L HGNC ENSG00000203908 tier1 - - 66 0 0.00 42 18 30.00 KIAA0319 0 genome.wustl.edu 37 6 24578460 24578460 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 24578460 24578460 A G SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known silent c.1383 p.D461 1.000 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 tier1 - - 59 0 0.00 45 14 23.73 KIAA0754 0 genome.wustl.edu 37 1 39876971 39876971 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 39876971 39876971 A - DEL KIAA0754 ENST00000530275 human ensembl 74_37 +1 known frame_shift_del c.626 p.K210fs 0.979 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 tier1 73 0 0.00 71 10 12.35 KIAA1109 0 genome.wustl.edu 37 4 123265671 123265671 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 123265671 123265671 A G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.12688 p.S4230G 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 128 0 0.00 68 46 40.35 KIAA1429 0 genome.wustl.edu 37 8 95539214 95539214 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 95539214 95539214 A G SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known silent c.1258 p.L420 0.701 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 tier1 - - 134 0 0.00 159 43 21.29 KIAA1549L 0 genome.wustl.edu 37 11 33564392 33564392 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 33564392 33564392 C T SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.392 p.A131V 0.016 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 44 0 0.00 28 16 36.36 KIAA1958 0 genome.wustl.edu 37 9 115337525 115337525 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 115337525 115337525 A G SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.1165 p.I389V 1.000 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 tier1 - - 46 0 0.00 21 16 43.24 KIAA2018 0 genome.wustl.edu 37 3 113376116 113376116 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 113376116 113376116 C T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known silent c.4413 p.Q1471 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 50 0 0.00 44 7 13.73 KIF16B 0 genome.wustl.edu 37 20 16348120 16348120 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 16348120 16348120 A - DEL KIF16B ENST00000408042 human ensembl 74_37 -1 known frame_shift_del c.3850 p.Y1284fs 0.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 tier1 105 0 0.00 94 19 16.81 KIF5B 0 genome.wustl.edu 37 10 32311796 32311796 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 32311796 32311796 A G SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known missense c.1894 p.C632R 0.985 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 tier1 - - 114 0 0.00 89 33 27.05 KIF6 0 genome.wustl.edu 37 6 39682520 39682520 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 39682520 39682520 C A SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.199 p.D67Y 0.810 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 tier1 - - 33 0 0.00 30 9 23.08 KIF7 0 genome.wustl.edu 37 15 90171922 90171922 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 90171922 90171922 G - DEL KIF7 ENST00000394412 human ensembl 74_37 -1 known frame_shift_del c.3760 p.L1254fs 0.001 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 tier1 65 0 0.00 42 20 32.26 KLHDC10 0 genome.wustl.edu 37 7 129756488 129756488 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 129756488 129756488 G A SNP KLHDC10 ENST00000335420 human ensembl 74_37 +1 known missense c.457 p.E153K 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 - no_errors KLHDC10 HGNC ENSG00000128607 tier1 - - 59 0 0.00 49 15 23.44 KLHDC2 0 genome.wustl.edu 37 14 50246976 50246976 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 50246976 50246976 A G SNP KLHDC2 ENST00000298307 human ensembl 74_37 +1 known silent c.819 p.L273 0.994 NULL pfam_Kelch_2 - no_errors KLHDC2 HGNC ENSG00000165516 tier1 - - 141 0 0.00 103 50 32.68 KLK12 0 genome.wustl.edu 37 19 51535064 51535064 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 51535064 51535064 G A SNP KLK12 ENST00000531374 human ensembl 74_37 -1 known silent c.525 p.V175 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK12 HGNC ENSG00000186474 tier1 - - 112 0 0.00 90 47 34.31 KMO 0 genome.wustl.edu 37 1 241753557 241753558 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 241753557 241753558 - A INS KMO ENST00000366559 human ensembl 74_37 +1 known frame_shift_ins c.1252_1253 p.V421fs 1.000:1.000 NULL pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 tier1 115 0 0.00 90 21 18.92 KMT2B 0 genome.wustl.edu 37 19 36219906 36219906 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 36219906 36219906 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.4708 p.A1570T 0.717 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 tier1 - - 87 0 0.00 33 29 46.77 KMT2C 0 genome.wustl.edu 37 7 152012386 152012386 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 152012386 152012386 T - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.427 p.S143fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 95 0 0.00 61 22 26.51 KPRP 0 genome.wustl.edu 37 1 152733155 152733155 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 152733155 152733155 G T SNP KPRP ENST00000368773 human ensembl 74_37 +1 known missense c.1091 p.G364V 0.940 NULL NULL - no_errors KPRP HGNC ENSG00000203786 tier1 - - 69 0 0.00 27 17 38.64 KPRP 0 genome.wustl.edu 37 1 152733604 152733604 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 152733604 152733604 G T SNP KPRP ENST00000368773 human ensembl 74_37 +1 known missense c.1540 p.G514C 0.879 NULL NULL - no_errors KPRP HGNC ENSG00000203786 tier1 - - 58 0 0.00 41 18 30.51 KRAS 0 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 25398284 25398284 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.35 p.G12D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 tier1 rs121913529 - 75 0 0.00 53 20 27.40 KRT5 0 genome.wustl.edu 37 12 52911475 52911475 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 52911475 52911475 G A SNP KRT5 ENST00000252242 human ensembl 74_37 -1 known missense c.991 p.R331C 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT5 HGNC ENSG00000186081 tier1 rs61297109 - 128 0 0.00 73 42 36.52 KRTAP5-4 0 genome.wustl.edu 37 11 1643024 1643025 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 1643024 1643025 0 C INS KRTAP5-4 ENST00000399682 human ensembl 74_37 -1 known frame_shift_ins c.300_299 p.C101fs 1.000:1.000 NULL NULL - no_errors KRTAP5-4 HGNC ENSG00000241598 118 0 0.00 105 15 12.50 L3MBTL4 0 genome.wustl.edu 37 18 5960137 5960137 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 5960137 5960137 A G SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.1660 p.S554P 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 - - 73 0 0.00 43 22 33.85 L3MBTL4 0 genome.wustl.edu 37 18 6243371 6243371 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 6243371 6243371 A 0 DEL L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known frame_shift_del c.382 p.W128fs 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 161 0 0.00 161 13 7.47 LAMA2 0 genome.wustl.edu 37 6 129714208 129714209 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 129714208 129714209 - A INS LAMA2 ENST00000421865 human ensembl 74_37 +1 known frame_shift_ins c.5253_5254 p.V1753fs 0.999:0.998 pfam_Laminin_I,superfamily_t-SNARE pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,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 LAMA2 HGNC ENSG00000196569 tier1 53 0 0.00 39 13 25.00 LAMA2 0 genome.wustl.edu 37 6 129785445 129785445 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 129785445 129785445 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.7003 p.E2335K 1.000 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,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 LAMA2 HGNC ENSG00000196569 tier1 - - 95 0 0.00 61 33 35.11 LAMA5 0 genome.wustl.edu 37 20 60885270 60885270 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 60885270 60885270 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.10698 p.T3566 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 40 0 0.00 34 13 27.66 LARP7 0 genome.wustl.edu 37 4 113565896 113565896 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 113565896 113565896 A - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_del c.71 p.K26fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 tier1 64 0 0.00 37 14 27.45 LEPREL2 0 genome.wustl.edu 37 12 6946910 6946910 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 6946910 6946910 C T SNP LEPREL2 ENST00000396725 human ensembl 74_37 +1 known missense c.1723 p.R575C 1.000 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors LEPREL2 HGNC ENSG00000110811 tier1 - - 14 0 0.00 12 5 29.41 LGI3 0 genome.wustl.edu 37 8 22006197 22006197 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 22006197 22006197 G A SNP LGI3 ENST00000306317 human ensembl 74_37 -1 known missense c.1123 p.R375C 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 tier1 rs138233100 - 57 0 0.00 55 17 23.61 LGI3 0 genome.wustl.edu 37 8 22012916 22012916 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 22012916 22012916 C T SNP LGI3 ENST00000518365 human ensembl 74_37 -1 known missense c.313 p.A105T 0.996 NULL NULL - no_errors LGI3 HGNC ENSG00000168481 tier1 - - 161 0 0.00 128 25 16.34 LHFPL3 0 genome.wustl.edu 37 7 103969530 103969530 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 103969530 103969530 C T SNP LHFPL3 ENST00000535008 human ensembl 74_37 +1 known silent c.303 p.P101 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL3 HGNC ENSG00000187416 tier1 - - 86 0 0.00 49 26 34.67 LINC00691 0 genome.wustl.edu 37 3 24138195 24138196 + RNA INS - - T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 24138195 24138196 - T INS LINC00691 ENST00000436123 human ensembl 74_37 -1 known rna NULL NULL 0.509:0.516 - - - no_errors LINC00691 HGNC ENSG00000224074 tier1 8 0 0.00 4 2 33.33 LLGL1 0 genome.wustl.edu 37 17 18137611 18137611 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 18137611 18137611 C T SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known missense c.739 p.R247C 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 tier1 - - 29 0 0.00 9 4 30.77 LMO7 0 genome.wustl.edu 37 13 76378527 76378527 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 13 76378527 76378527 C T SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.920 p.A307V 0.992 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 tier1 - - 94 0 0.00 67 27 28.72 LMTK3 0 genome.wustl.edu 37 19 49000699 49000699 + Silent SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 49000699 49000699 T C SNP LMTK3 ENST00000270238 human ensembl 74_37 -1 known silent c.3714 p.R1238 0.962 smart_Ser/Thr_dual-sp_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 tier1 - - 80 0 0.00 44 40 47.62 LMX1A 0 genome.wustl.edu 37 1 165218837 165218837 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 165218837 165218837 C T SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known missense c.304 p.A102T 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1A HGNC ENSG00000162761 tier1 - - 26 0 0.00 10 7 41.18 LNX1 0 genome.wustl.edu 37 4 54362516 54362516 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 54362516 54362516 G A SNP LNX1 ENST00000263925 human ensembl 74_37 -1 known missense c.1024 p.R342C 0.939 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 25 0 0.00 28 4 12.50 LOC100132891 0 genome.wustl.edu 37 8 72755898 72755898 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 72755898 72755898 G A SNP LOC100132891 ENST00000537896 human ensembl 74_37 +1 known missense c.262 p.V88I 1.000 NULL NULL - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 tier1 - - 58 0 0.00 39 20 33.90 LOC100505624 0 genome.wustl.edu 37 2 27558948 27558948 + RNA SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 27558948 27558948 T C SNP LOC100505624 ENST00000585326 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC109828.1 Clone_based_vega_gene ENSG00000234945 tier1 - - 34 0 0.00 31 18 36.73 LPHN3 0 genome.wustl.edu 37 4 62758427 62758427 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 62758427 62758427 C A SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1534 p.L512I 0.066 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 tier1 - - 69 0 0.00 47 22 31.88 LPO 0 genome.wustl.edu 37 17 56329565 56329565 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 56329565 56329565 C T SNP LPO ENST00000262290 human ensembl 74_37 +1 known missense c.803 p.A268V 0.001 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 tier1 - - 57 0 0.00 34 10 22.73 LRAT 0 genome.wustl.edu 37 4 155665563 155665563 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 155665563 155665563 G A SNP LRAT ENST00000336356 human ensembl 74_37 +1 known missense c.85 p.A29T 0.000 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 tier1 - - 60 0 0.00 38 18 32.14 LRCH3 0 genome.wustl.edu 37 3 197598223 197598223 + Missense_Mutation SNP C C G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 197598223 197598223 C G SNP LRCH3 ENST00000438796 human ensembl 74_37 +1 known missense c.2020 p.L674V 0.996 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC ENSG00000186001 tier1 - - 219 0 0.00 116 38 24.68 LRFN1 0 genome.wustl.edu 37 19 39798459 39798459 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 39798459 39798459 G A SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known silent c.2130 p.Y710 0.987 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 tier1 - - 25 0 0.00 18 11 37.93 LRP1 0 genome.wustl.edu 37 12 57552304 57552304 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 57552304 57552304 C A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.1681 p.P561T 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 32 0 0.00 22 12 34.29 LRP1B 0 genome.wustl.edu 37 2 141032033 141032034 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 141032033 141032034 - C INS LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_ins c.13102_13101 p.H4367fs 0.999:0.016 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 73 0 0.00 60 24 28.57 LRP1B 0 genome.wustl.edu 37 2 141819702 141819702 + Missense_Mutation SNP T T A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 141819702 141819702 T A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.1154 p.Y385F 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 153 0 0.00 88 46 34.33 LRRC16A 0 genome.wustl.edu 37 6 25452454 25452455 + RNA DEL TT TT - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 25452454 25452455 TT - DEL LRRC16A ENST00000461945 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors LRRC16A HGNC ENSG00000079691 tier1 84 0 0.00 65 19 22.62 LRRC32 0 genome.wustl.edu 37 11 76376953 76376953 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 76376953 76376953 G T SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.46 p.L16M 0.999 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 tier1 - - 112 0 0.00 87 25 22.32 LRRTM1 0 genome.wustl.edu 37 2 80529673 80529673 + Missense_Mutation SNP C C G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 80529673 80529673 C G SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.1272 p.Q424H 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 tier1 - - 41 0 0.00 38 21 35.59 LTBP1 0 genome.wustl.edu 37 2 33500130 33500130 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 33500130 33500130 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.2845 p.A949T 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 103 0 0.00 76 31 28.97 LYST 0 genome.wustl.edu 37 1 235878512 235878512 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 235878512 235878512 A - DEL LYST ENST00000389793 human ensembl 74_37 -1 known frame_shift_del c.9773 p.L3258fs 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,superfamily_ARM-type_fold,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 54 0 0.00 30 10 25.00 M6PR 0 genome.wustl.edu 37 12 9095102 9095102 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 9095102 9095102 C - DEL M6PR ENST00000000412 human ensembl 74_37 -1 known frame_shift_del c.621 p.F208fs 0.715 prints_Man_6_P_rcpt superfamily_Man6P_isomerase_rcpt-bd_dom,prints_Man_6_P_rcpt - no_errors M6PR HGNC ENSG00000003056 tier1 112 0 0.00 71 20 21.98 MAG 0 genome.wustl.edu 37 19 35786566 35786566 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 35786566 35786566 T C SNP MAG ENST00000392213 human ensembl 74_37 +1 known missense c.97 p.F33L 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 tier1 - - 65 0 0.00 30 20 40.00 MAGEE2 0 genome.wustl.edu 37 X 75004754 75004754 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 75004754 75004754 G - DEL MAGEE2 ENST00000373359 human ensembl 74_37 -1 known frame_shift_del c.133 p.Q45fs 0.008 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC ENSG00000186675 tier1 48 0 0.00 35 13 27.08 MAK16 0 genome.wustl.edu 37 8 33346653 33346653 + Nonsense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 33346653 33346653 C T SNP MAK16 ENST00000360128 human ensembl 74_37 +1 known nonsense c.388 p.R130* 1.000 pirsf_Mak16 pfam_Mak16,pirsf_Mak16 - no_errors MAK16 HGNC ENSG00000198042 tier1 - - 66 0 0.00 70 29 29.29 MAP2 0 genome.wustl.edu 37 2 210561666 210561667 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 210561666 210561667 - A INS MAP2 ENST00000360351 human ensembl 74_37 +1 known frame_shift_ins c.4413_4414 p.T1473fs 1.000:1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 89 0 0.00 57 14 19.72 MAP3K15 0 genome.wustl.edu 37 X 19398294 19398294 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 19398294 19398294 C T SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known missense c.2533 p.A845T 1.000 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,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 tier1 - - 16 0 0.00 8 4 33.33 MAP4K1 0 genome.wustl.edu 37 19 39078375 39078375 + RNA DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 39078375 39078375 C - DEL MAP4K1 ENST00000593196 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors MAP4K1 HGNC ENSG00000104814 tier1 21 0 0.00 14 5 26.32 MARCO 0 genome.wustl.edu 37 2 119699942 119699942 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 119699942 119699942 C T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known silent c.66 p.H22 0.005 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 44 0 0.00 54 10 15.62 MB21D1 0 genome.wustl.edu 37 6 74138502 74138502 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 74138502 74138502 C T SNP MB21D1 ENST00000370315 human ensembl 74_37 -1 known missense c.1147 p.E383K 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 tier1 - - 117 0 0.00 94 26 21.67 MCHR1 0 genome.wustl.edu 37 22 41077263 41077263 + Silent SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 41077263 41077263 C A SNP MCHR1 ENST00000249016 human ensembl 74_37 +1 known silent c.600 p.T200 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 tier1 - - 108 0 0.00 70 27 27.84 MCTP1 0 genome.wustl.edu 37 5 94230520 94230520 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 94230520 94230520 G A SNP MCTP1 ENST00000515393 human ensembl 74_37 -1 known missense c.1673 p.A558V 0.421 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 tier1 - - 50 0 0.00 30 14 31.82 MED14 0 genome.wustl.edu 37 X 40588606 40588607 + RNA DEL AA AA - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 40588606 40588607 AA - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC ENSG00000180182 tier1 35 0 0.00 14 4 22.22 MED15 0 genome.wustl.edu 37 22 20918765 20918767 + In_Frame_Del DEL GCA GCA - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 20918765 20918767 GCA - DEL MED15 ENST00000263205 human ensembl 74_37 +1 known in_frame_del c.480_482 p.Q164in_frame_del 0.694:0.988:1.000 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 tier1 67 0 0.00 54 13 19.40 MED16 0 genome.wustl.edu 37 19 868170 868170 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 868170 868170 C T SNP MED16 ENST00000325464 human ensembl 74_37 -1 known silent c.2565 p.P855 0.000 NULL pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 tier1 - - 16 0 0.00 14 8 36.36 MED16 0 genome.wustl.edu 37 19 891109 891109 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 891109 891109 G A SNP MED16 ENST00000325464 human ensembl 74_37 -1 known missense c.23 p.A8V 0.000 NULL pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 tier1 - - 87 0 0.00 60 32 34.78 MEGF11 0 genome.wustl.edu 37 15 66206269 66206269 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 66206269 66206269 C T SNP MEGF11 ENST00000409699 human ensembl 74_37 -1 known missense c.2516 p.S839N 1.000 NULL pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 tier1 - - 40 0 0.00 22 16 42.11 MEGF9 0 genome.wustl.edu 37 9 123476279 123476279 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 123476279 123476279 G A SNP MEGF9 ENST00000426959 human ensembl 74_37 -1 known missense c.334 p.L112F 0.001 NULL pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF9 HGNC ENSG00000106780 tier1 - - 19 0 0.00 11 16 59.26 MEIS3 0 genome.wustl.edu 37 19 47910638 47910638 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 47910638 47910638 C T SNP MEIS3 ENST00000559524 human ensembl 74_37 -1 known silent c.1044 p.T348 0.990 pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS3 HGNC ENSG00000105419 tier1 - - 110 0 0.00 68 24 26.09 MEOX2 0 genome.wustl.edu 37 7 15652021 15652021 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 15652021 15652021 C T SNP MEOX2 ENST00000262041 human ensembl 74_37 -1 known silent c.906 p.A302 0.311 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX2 HGNC ENSG00000106511 tier1 - - 63 0 0.00 45 28 38.36 MESP2 0 genome.wustl.edu 37 15 90320499 90320499 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 90320499 90320499 C T SNP MESP2 ENST00000341735 human ensembl 74_37 +1 known missense c.911 p.A304V 0.794 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MESP2 HGNC ENSG00000188095 tier1 - - 11 0 0.00 3 6 66.67 MFAP3L 0 genome.wustl.edu 37 4 170913249 170913249 + Silent SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 170913249 170913249 G T SNP MFAP3L ENST00000361618 human ensembl 74_37 -1 known silent c.510 p.T170 0.998 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3L HGNC ENSG00000198948 tier1 - - 91 0 0.00 90 10 10.00 MGA 0 genome.wustl.edu 37 15 42052726 42052726 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 42052726 42052726 G A SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.7397 p.R2466Q 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 42 0 0.00 21 9 30.00 MGAM 0 genome.wustl.edu 37 7 141780719 141780719 + Silent SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 141780719 141780719 T C SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative silent c.5976 p.I1992 0.756 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 49 0 0.00 39 15 27.78 MIA3 0 genome.wustl.edu 37 1 222801059 222801059 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 222801059 222801059 A - DEL MIA3 ENST00000344441 human ensembl 74_37 +1 known frame_shift_del c.497 p.N168fs 0.008 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 tier1 61 0 0.00 44 20 31.25 MIA3 0 genome.wustl.edu 37 1 222838880 222838880 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 222838880 222838880 G A SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known silent c.5643 p.P1881 0.001 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 tier1 - - 143 0 0.00 117 45 27.78 MICAL3 0 genome.wustl.edu 37 22 18301788 18301788 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 18301788 18301788 G - DEL MICAL3 ENST00000441493 human ensembl 74_37 -1 known frame_shift_del c.3639 p.S1214fs 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 26 0 0.00 19 4 17.39 MIR1208 0 genome.wustl.edu 37 8 129162432 129162433 + RNA INS - - G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 129162432 129162433 - G INS MIR1208 ENST00000408334 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors MIR1208 HGNC ENSG00000221261 tier1 46 0 0.00 42 14 25.00 MIR663B 0 genome.wustl.edu 37 2 133014557 133014557 + RNA SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 133014557 133014557 G A SNP MIR663B ENST00000408361 human ensembl 74_37 -1 known rna NULL NULL 0.067 - - - no_errors MIR663B HGNC ENSG00000221288 tier1 - - 36 0 0.00 33 6 15.38 MIS18A 0 genome.wustl.edu 37 21 33642777 33642777 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 21 33642777 33642777 C T SNP MIS18A ENST00000290130 human ensembl 74_37 -1 known silent c.465 p.T155 0.858 NULL NULL - no_errors MIS18A HGNC ENSG00000159055 tier1 - - 68 0 0.00 39 13 25.00 MLLT4 0 genome.wustl.edu 37 6 168314926 168314926 + Nonsense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 168314926 168314926 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known nonsense c.2116 p.R706* 1.000 pfscan_Dilute pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 tier1 - - 60 0 0.00 43 25 36.76 MMP19 0 genome.wustl.edu 37 12 56232290 56232290 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 56232290 56232290 T C SNP MMP19 ENST00000394182 human ensembl 74_37 -1 known missense c.31 p.N11D 0.002 smart_Hemopexin-like_repeat pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat - no_errors MMP19 HGNC ENSG00000123342 tier1 - - 30 0 0.00 19 10 34.48 MOGAT2 0 genome.wustl.edu 37 11 75439013 75439013 + Splice_Site SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 75439013 75439013 A C SNP MOGAT2 ENST00000198801 human ensembl 74_37 +1 known splice_site c.476-2 e4-2 1.000 - - - no_errors MOGAT2 HGNC ENSG00000166391 tier1 - - 57 0 0.00 32 46 58.97 MRRF 0 genome.wustl.edu 37 9 125033141 125033141 + Splice_Site SNP A A T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 125033141 125033141 A T SNP MRRF ENST00000344641 human ensembl 74_37 +1 known splice_site c.1-2 e1-2 0.295 - - - no_errors MRRF HGNC ENSG00000148187 tier1 - - 61 0 0.00 69 26 27.37 MSANTD4 0 genome.wustl.edu 37 11 105880739 105880739 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 105880739 105880739 A - DEL MSANTD4 ENST00000301919 human ensembl 74_37 -1 known frame_shift_del c.561 p.F187fs 0.903 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 tier1 130 0 0.00 81 32 28.32 MSH3 0 genome.wustl.edu 37 5 80074607 80074607 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 80074607 80074607 G A SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known missense c.2387 p.R796Q 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 - - 92 0 0.00 38 26 40.62 MTMR10 0 genome.wustl.edu 37 15 31251156 31251156 + Splice_Site SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 31251156 31251156 T C SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known splice_site c.847-2 e9-2 0.999 - - - no_errors MTMR10 HGNC ENSG00000166912 tier1 - - 108 0 0.00 44 26 37.14 MTMR11 0 genome.wustl.edu 37 1 149901495 149901495 + RNA SNP A A T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 149901495 149901495 A T SNP MTMR11 ENST00000492824 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTMR11 HGNC ENSG00000014914 tier1 - - 175 0 0.00 125 59 32.07 MTR 0 genome.wustl.edu 37 1 236958928 236958928 + Nonsense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 236958928 236958928 G A SNP MTR ENST00000418145 human ensembl 74_37 +1 known nonsense c.308 p.W103* 0.000 pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pfscan_S_MeTrfase - no_errors MTR HGNC ENSG00000116984 tier1 - - 22 0 0.00 20 6 23.08 MUC17 0 genome.wustl.edu 37 7 100675070 100675070 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 100675070 100675070 A G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.373 p.S125G 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 87 0 0.00 61 29 32.22 MUC17 0 genome.wustl.edu 37 7 100679591 100679591 + Missense_Mutation SNP C C G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 100679591 100679591 C G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.4894 p.L1632V 0.005 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 410 0 0.00 234 132 36.07 MUC5B 0 genome.wustl.edu 37 11 1262090 1262091 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 1262090 1262091 - C INS MUC5B ENST00000447027 human ensembl 74_37 +1 known frame_shift_ins c.3989_3990 p.V1332fs 0.011:0.013 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 19 0 0.00 13 9 40.91 MUL1 0 genome.wustl.edu 37 1 20827645 20827645 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 20827645 20827645 G A SNP MUL1 ENST00000264198 human ensembl 74_37 -1 known silent c.597 p.G199 0.130 pfam_MULAN pfam_MULAN,pfscan_Znf_RING - no_errors MUL1 HGNC ENSG00000090432 tier1 - - 120 0 0.00 79 42 34.43 MXRA8 0 genome.wustl.edu 37 1 1290267 1290267 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 1290267 1290267 A G SNP MXRA8 ENST00000445648 human ensembl 74_37 -1 known silent c.744 p.D248 0.625 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 tier1 - - 15 0 0.00 13 11 45.83 MYH7 0 genome.wustl.edu 37 14 23894567 23894567 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 23894567 23894567 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.2347 p.R783C 0.328 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 - - 58 0 0.00 38 24 38.71 MYL1 0 genome.wustl.edu 37 2 211179766 211179767 + Frame_Shift_Del DEL TT TT - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 211179766 211179767 TT - DEL MYL1 ENST00000352451 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL1 HGNC ENSG00000168530 tier1 258 0 0.00 242 70 22.44 MYO18A 0 genome.wustl.edu 37 17 27417091 27417091 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 27417091 27417091 T C SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.5414 p.E1805G 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 tier1 - - 22 0 0.00 16 6 26.09 MYOM1 0 genome.wustl.edu 37 18 3168966 3168967 + Frame_Shift_Ins INS - - G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 3168966 3168967 - G INS MYOM1 ENST00000356443 human ensembl 74_37 -1 known frame_shift_ins c.1188_1187 p.Y397fs 0.269:1.000 pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 tier1 38 0 0.00 26 9 25.71 NAALADL1 0 genome.wustl.edu 37 11 64820981 64820981 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 64820981 64820981 G A SNP NAALADL1 ENST00000358658 human ensembl 74_37 -1 known missense c.1060 p.R354C 0.939 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALADL1 HGNC ENSG00000168060 tier1 - - 58 0 0.00 56 26 31.71 NACAP1 0 genome.wustl.edu 37 8 102381883 102381883 + RNA DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 102381883 102381883 A - DEL NACAP1 ENST00000419462 human ensembl 74_37 +1 known rna NULL NULL 0.879 - - - no_errors NACAP1 HGNC ENSG00000228224 tier1 26 0 0.00 28 11 28.21 NADSYN1 0 genome.wustl.edu 37 11 71193946 71193946 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 71193946 71193946 C - DEL NADSYN1 ENST00000319023 human ensembl 74_37 +1 known frame_shift_del c.1202 p.Q403fs 0.919 pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 tier1 61 0 0.00 52 9 14.75 NAPEPLD 0 genome.wustl.edu 37 7 102769197 102769197 + Silent SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 102769197 102769197 A C SNP NAPEPLD ENST00000455523 human ensembl 74_37 -1 known silent c.246 p.S82 0.000 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 tier1 - - 96 0 0.00 54 29 34.94 NARS 0 genome.wustl.edu 37 18 55274524 55274524 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 55274524 55274524 A G SNP NARS ENST00000256854 human ensembl 74_37 -1 known silent c.843 p.G281 0.000 pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase - no_errors NARS HGNC ENSG00000134440 tier1 - - 92 0 0.00 64 26 28.89 NAT9 0 genome.wustl.edu 37 17 72767908 72767908 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 72767908 72767908 G A SNP NAT9 ENST00000357814 human ensembl 74_37 -1 known silent c.579 p.H193 0.089 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC ENSG00000109065 tier1 - - 36 0 0.00 25 11 30.56 NAV1 0 genome.wustl.edu 37 1 201777592 201777594 + In_Frame_Del DEL GAG GAG - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 201777592 201777594 GAG - DEL NAV1 ENST00000367296 human ensembl 74_37 +1 known in_frame_del c.3892_3894 p.E1301in_frame_del 0.983:1.000:1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 tier1 21 0 0.00 16 5 23.81 NBAS 0 genome.wustl.edu 37 2 15618356 15618356 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 15618356 15618356 T - DEL NBAS ENST00000281513 human ensembl 74_37 -1 known frame_shift_del c.1141 p.I381fs 0.998 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 tier1 42 0 0.00 30 20 40.00 NCAM1 0 genome.wustl.edu 37 11 113102926 113102926 + Nonsense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 113102926 113102926 C A SNP NCAM1 ENST00000316851 human ensembl 74_37 +1 known nonsense c.1245 p.Y415* 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 tier1 - - 26 0 0.00 25 12 32.43 NCF4 0 genome.wustl.edu 37 22 37271972 37271972 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 37271972 37271972 A G SNP NCF4 ENST00000397147 human ensembl 74_37 +1 known missense c.905 p.Q302R 0.002 NULL pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 tier1 - - 34 0 0.00 31 7 18.42 NCKAP5 0 genome.wustl.edu 37 2 133489456 133489456 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 133489456 133489456 G A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.5297 p.A1766V 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 79 0 0.00 66 21 24.14 NCKAP5 0 genome.wustl.edu 37 2 133542575 133542575 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 133542575 133542575 G T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.1809 p.D603E 0.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 30 0 0.00 32 12 27.27 NCOA3 0 genome.wustl.edu 37 20 46264296 46264296 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 46264296 46264296 T C SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known missense c.1343 p.M448T 1.000 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 tier1 - - 55 0 0.00 43 23 34.85 NCOA3 0 genome.wustl.edu 37 20 46279842 46279842 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 46279842 46279842 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.3768 p.Q1256 0.555 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 tier1 - - 52 0 0.00 62 7 10.14 NCOA6 0 genome.wustl.edu 37 20 33345721 33345723 + In_Frame_Del DEL TGC TGC - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 TGC TGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 33345721 33345723 TGC - DEL NCOA6 ENST00000359003 human ensembl 74_37 -1 known in_frame_del c.830_828 p.Q280in_frame_del 1.000:1.000:0.999 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 tier1 28 0 0.00 34 5 12.82 NCOR1 0 genome.wustl.edu 37 17 15971253 15971254 + Frame_Shift_Ins INS - - G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 15971253 15971254 - G INS NCOR1 ENST00000268712 human ensembl 74_37 -1 known frame_shift_ins c.4696_4695 p.T1565fs 1.000:0.997 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 tier1 54 0 0.00 36 12 25.00 NCOR1 0 genome.wustl.edu 37 17 16029446 16029446 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 16029446 16029446 T - DEL NCOR1 ENST00000268712 human ensembl 74_37 -1 known frame_shift_del c.1584 p.E529fs 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 tier1 31 0 0.00 15 11 42.31 NCOR1 0 genome.wustl.edu 37 17 16097825 16097825 + Missense_Mutation SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 16097825 16097825 T G SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.59 p.Y20S 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 15 0 0.00 20 6 23.08 NDRG1 0 genome.wustl.edu 37 8 134266805 134266805 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 134266805 134266805 C A SNP NDRG1 ENST00000323851 human ensembl 74_37 -1 known missense c.571 p.V191L 1.000 pfam_Ndr pfam_Ndr - no_errors NDRG1 HGNC ENSG00000104419 tier1 - - 28 0 0.00 20 12 37.50 NDUFA10 0 genome.wustl.edu 37 2 240946734 240946734 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 240946734 240946734 T - DEL NDUFA10 ENST00000252711 human ensembl 74_37 -1 known frame_shift_del c.803 p.K268fs 0.947 pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su - no_errors NDUFA10 HGNC ENSG00000130414 tier1 27 0 0.00 18 10 35.71 NDUFAF6 0 genome.wustl.edu 37 8 96047735 96047736 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 96047735 96047736 - A INS NDUFAF6 ENST00000396124 human ensembl 74_37 +1 known frame_shift_ins c.351_352 p.T119fs 1.000:1.000 pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth - no_errors NDUFAF6 HGNC ENSG00000156170 tier1 70 0 0.00 89 19 17.59 NELL2 0 genome.wustl.edu 37 12 45108482 45108482 + Missense_Mutation SNP C C G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 45108482 45108482 C G SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.1187 p.R396T 0.995 NULL pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 tier1 - - 67 0 0.00 41 19 31.67 NFASC 0 genome.wustl.edu 37 1 204924033 204924033 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 204924033 204924033 C - DEL NFASC ENST00000367172 human ensembl 74_37 +1 known frame_shift_del c.489 p.P165fs 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 NFASC HGNC ENSG00000163531 tier1 217 0 0.00 144 44 23.40 NINL 0 genome.wustl.edu 37 20 25462613 25462613 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 25462613 25462613 C T SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.1801 p.G601S 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 tier1 - - 94 0 0.00 71 32 31.07 NIT1 0 genome.wustl.edu 37 1 161090352 161090352 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 161090352 161090352 C T SNP NIT1 ENST00000368009 human ensembl 74_37 +1 known missense c.781 p.R261C 0.965 superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT1 HGNC ENSG00000158793 tier1 - - 52 0 0.00 36 17 32.08 NKAP 0 genome.wustl.edu 37 X 119065934 119065934 + Silent SNP T T A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 119065934 119065934 T A SNP NKAP ENST00000371410 human ensembl 74_37 -1 known silent c.888 p.P296 0.964 NULL pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 tier1 - - 25 0 0.00 20 13 39.39 NKX6-2 0 genome.wustl.edu 37 10 134598862 134598862 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 134598862 134598862 G A SNP NKX6-2 ENST00000368592 human ensembl 74_37 -1 known silent c.501 p.F167 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-2 HGNC ENSG00000148826 tier1 - - 31 0 0.00 22 12 34.29 NLRP3 0 genome.wustl.edu 37 1 247607265 247607267 + RNA DEL CTT CTT - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 247607265 247607267 CTT - DEL NLRP3 ENST00000532083 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002:0.007 - - - no_errors NLRP3 HGNC ENSG00000162711 tier1 25 0 0.00 11 6 35.29 NLRP8 0 genome.wustl.edu 37 19 56466477 56466477 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 56466477 56466477 C T SNP NLRP8 ENST00000291971 human ensembl 74_37 +1 known silent c.1053 p.L351 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP8 HGNC ENSG00000179709 tier1 - - 114 0 0.00 64 30 31.91 NME3 0 genome.wustl.edu 37 16 1820907 1820907 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 1820907 1820907 C T SNP NME3 ENST00000219302 human ensembl 74_37 -1 known missense c.367 p.G123R 0.999 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME3 HGNC ENSG00000103024 tier1 - - 62 0 0.00 32 15 31.91 NOD1 0 genome.wustl.edu 37 7 30491916 30491916 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 30491916 30491916 G T SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known missense c.1117 p.R373S 0.177 pfscan_NACHT_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 tier1 - - 60 0 0.00 49 24 32.88 NOL4 0 genome.wustl.edu 37 18 31537451 31537451 + Missense_Mutation SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 31537451 31537451 A C SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known missense c.1267 p.L423V 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 tier1 - - 36 0 0.00 21 15 41.67 NOP14-AS1 0 genome.wustl.edu 37 4 2952780 2952780 + RNA DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 2952780 2952780 A - DEL NOP14-AS1 ENST00000515194 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NOP14-AS1 HGNC ENSG00000249673 tier1 84 0 0.00 53 22 29.33 NOS1 0 genome.wustl.edu 37 12 117768738 117768738 + Missense_Mutation SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 117768738 117768738 A C SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.137 p.L46R 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 47 0 0.00 36 19 34.55 NOS1AP 0 genome.wustl.edu 37 1 162336977 162336977 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 162336977 162336977 C A SNP NOS1AP ENST00000361897 human ensembl 74_37 +1 known missense c.1241 p.P414H 0.012 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors NOS1AP HGNC ENSG00000198929 tier1 - - 100 0 0.00 58 40 40.82 NOTCH2 0 genome.wustl.edu 37 1 120611955 120611955 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 120611955 120611955 G - DEL NOTCH2 ENST00000256646 human ensembl 74_37 -1 known frame_shift_del c.66 p.A23fs 0.991 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 tier1 22 0 0.00 19 8 29.63 NPAT 0 genome.wustl.edu 37 11 108043205 108043205 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 108043205 108043205 A - DEL NPAT ENST00000278612 human ensembl 74_37 -1 known frame_shift_del c.2506 p.S836fs 0.767 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 tier1 94 0 0.00 77 14 15.38 NPC1L1 0 genome.wustl.edu 37 7 44579426 44579426 + Silent SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 44579426 44579426 G T SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known silent c.570 p.G190 0.524 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 tier1 - - 60 0 0.00 43 22 33.85 NPIPB11 0 genome.wustl.edu 37 16 29395081 29395081 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 29395081 29395081 G A SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative missense c.1172 p.T391I 0.002 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 tier1 - - 18 0 0.00 7 6 46.15 NR0B1 0 genome.wustl.edu 37 X 30327281 30327281 + Missense_Mutation SNP C C G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 30327281 30327281 C G SNP NR0B1 ENST00000378970 human ensembl 74_37 -1 known missense c.200 p.C67S 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 tier1 - - 26 0 0.00 26 13 33.33 NR3C2 0 genome.wustl.edu 37 4 149357089 149357089 + Nonsense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 149357089 149357089 G T SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known nonsense c.924 p.C308* 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 tier1 - - 59 0 0.00 28 18 39.13 NRK 0 genome.wustl.edu 37 X 105150564 105150564 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 105150564 105150564 A - DEL NRK ENST00000428173 human ensembl 74_37 +1 known frame_shift_del c.1003 p.R337fs 0.999 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 tier1 19 0 0.00 13 5 27.78 NRXN3 0 genome.wustl.edu 37 14 79111750 79111750 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 79111750 79111750 C T SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.1039 p.R347C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 21 0 0.00 9 9 50.00 NSMAF 0 genome.wustl.edu 37 8 59514018 59514019 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 59514018 59514019 - A INS NSMAF ENST00000427130 human ensembl 74_37 -1 known frame_shift_ins c.1295_1294 p.Y432fs 1.000:1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 tier1 25 0 0.00 38 11 22.45 NSMAF 0 genome.wustl.edu 37 8 59514019 59514019 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 59514019 59514019 A - DEL NSMAF ENST00000427130 human ensembl 74_37 -1 known frame_shift_del c.1294 p.Y432fs 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 tier1 26 0 0.00 40 10 20.00 NTHL1 0 genome.wustl.edu 37 16 2097739 2097739 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 2097739 2097739 C T SNP NTHL1 ENST00000219066 human ensembl 74_37 -1 known missense c.110 p.G37E 0.023 NULL pfam_HhH-GPD_domain,pfam_HhH_motif,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors NTHL1 HGNC ENSG00000065057 tier1 - - 15 0 0.00 8 7 46.67 OBSCN 0 genome.wustl.edu 37 1 228466533 228466533 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 228466533 228466533 T C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.7003 p.Y2335H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 34 0 0.00 35 7 16.67 OBSCN 0 genome.wustl.edu 37 1 228559450 228559450 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 228559450 228559450 G - DEL OBSCN ENST00000422127 human ensembl 74_37 +1 known frame_shift_del c.20971 p.A6993fs 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 64 0 0.00 30 8 21.05 OCA2 0 genome.wustl.edu 37 15 28171274 28171274 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 28171274 28171274 T C SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.2078 p.E693G 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 tier1 - - 100 0 0.00 71 24 25.26 ODF4 0 genome.wustl.edu 37 17 8243503 8243503 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 8243503 8243503 T C SNP ODF4 ENST00000328248 human ensembl 74_37 +1 known missense c.134 p.L45P 0.000 NULL NULL - no_errors ODF4 HGNC ENSG00000184650 tier1 - - 23 0 0.00 12 8 40.00 OLFML2B 0 genome.wustl.edu 37 1 161953998 161953998 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 161953998 161953998 C T SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1720 p.A574T 0.977 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 tier1 - - 73 0 0.00 46 28 37.33 OLIG3 0 genome.wustl.edu 37 6 137815191 137815191 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 137815191 137815191 C T SNP OLIG3 ENST00000367734 human ensembl 74_37 -1 known silent c.117 p.S39 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG3 HGNC ENSG00000177468 tier1 rs144904422 - 83 0 0.00 59 31 34.44 OMP 0 genome.wustl.edu 37 11 76813970 76813970 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 76813970 76813970 G A SNP OMP ENST00000529803 human ensembl 74_37 +1 known missense c.85 p.V29M 0.905 pfam_Olfactory_marker,superfamily_Olfactory_marker pfam_Olfactory_marker,superfamily_Olfactory_marker - no_errors OMP HGNC ENSG00000254550 tier1 - - 38 0 0.00 52 14 21.21 OR10AG1 0 genome.wustl.edu 37 11 55735839 55735839 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 55735839 55735839 C T SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known missense c.101 p.G34D 0.036 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10AG1 HGNC ENSG00000174970 tier1 - - 70 0 0.00 56 14 20.00 OR13C9 0 genome.wustl.edu 37 9 107379989 107379989 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 107379989 107379989 A G SNP OR13C9 ENST00000259362 human ensembl 74_37 -1 known missense c.497 p.L166S 0.376 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C9 HGNC ENSG00000136839 tier1 - - 93 0 0.00 52 26 32.91 OR2G6 0 genome.wustl.edu 37 1 248685614 248685614 + Missense_Mutation SNP C C G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 248685614 248685614 C G SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.667 p.Q223E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 tier1 - - 117 0 0.00 102 40 28.17 OR2T5 0 genome.wustl.edu 37 1 248651905 248651905 + Missense_Mutation SNP A A T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 248651905 248651905 A T SNP OR2T5 ENST00000366473 human ensembl 74_37 +1 known missense c.16 p.R6W 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T5 HGNC ENSG00000203661 tier1 rs199833498 - 15 0 0.00 4 4 50.00 OR4D6 0 genome.wustl.edu 37 11 59225113 59225113 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 59225113 59225113 C A SNP OR4D6 ENST00000300127 human ensembl 74_37 +1 known missense c.680 p.S227Y 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D6 HGNC ENSG00000166884 tier1 - - 57 0 0.00 51 23 31.08 OR4K2 0 genome.wustl.edu 37 14 20344896 20344896 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 20344896 20344896 T C SNP OR4K2 ENST00000298642 human ensembl 74_37 +1 known missense c.470 p.M157T 0.580 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K2 HGNC ENSG00000165762 tier1 - - 444 0 0.00 380 69 15.37 OR52R1 0 genome.wustl.edu 37 11 4824866 4824866 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 4824866 4824866 A G SNP OR52R1 ENST00000380382 human ensembl 74_37 -1 known missense c.982 p.C328R 0.123 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 tier1 - - 81 0 0.00 50 29 36.71 OR6K2 0 genome.wustl.edu 37 1 158669740 158669740 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 158669740 158669740 G A SNP OR6K2 ENST00000359610 human ensembl 74_37 -1 known missense c.703 p.R235C 0.013 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 tier1 rs141497361 - 61 0 0.00 30 15 33.33 P2RX3 0 genome.wustl.edu 37 11 57135570 57135570 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 57135570 57135570 C T SNP P2RX3 ENST00000263314 human ensembl 74_37 +1 known silent c.930 p.Y310 0.072 pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX3 HGNC ENSG00000109991 tier1 rs200102602 - 40 0 0.00 36 15 29.41 PAPPA2 0 genome.wustl.edu 37 1 176526282 176526282 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 176526282 176526282 G A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.824 p.R275H 0.998 superfamily_ConA-like_lec_gl_sf pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 53 0 0.00 27 12 30.77 PARP14 0 genome.wustl.edu 37 3 122418807 122418807 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 122418807 122418807 A - DEL PARP14 ENST00000474629 human ensembl 74_37 +1 known frame_shift_del c.1406 p.M471fs 0.056 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 tier1 32 0 0.00 24 7 22.58 PARP3 0 genome.wustl.edu 37 3 51979625 51979625 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 51979625 51979625 C T SNP PARP3 ENST00000398755 human ensembl 74_37 +1 known silent c.997 p.L333 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 tier1 - - 84 0 0.00 47 24 33.80 PCCA 0 genome.wustl.edu 37 13 101182360 101182361 + Frame_Shift_Del DEL TG TG - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 13 101182360 101182361 TG - DEL PCCA ENST00000376285 human ensembl 74_37 +1 known frame_shift_del c.2127_2128 p.V710fs 0.004:0.983 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 tier1 50 0 0.00 29 12 29.27 PCDH15 0 genome.wustl.edu 37 10 55755454 55755454 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 55755454 55755454 C A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.2823 p.K941N 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 88 0 0.00 49 19 27.94 PCDHB11 0 genome.wustl.edu 37 5 140580725 140580725 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 140580725 140580725 G A SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.1378 p.V460I 0.003 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 tier1 - - 191 0 0.00 155 60 27.91 PCDHB13 0 genome.wustl.edu 37 5 140594334 140594335 + Frame_Shift_Del DEL CA CA - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 140594334 140594335 CA - DEL PCDHB13 ENST00000341948 human ensembl 74_37 +1 known frame_shift_del c.639_640 p.T214fs 0.037:0.097 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 PCDHB13 HGNC ENSG00000187372 tier1 74 0 0.00 70 28 28.57 PCDHB14 0 genome.wustl.edu 37 5 140604768 140604768 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 140604768 140604768 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.1691 p.P564L 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 tier1 - - 25 0 0.00 19 6 24.00 PCDHB15 0 genome.wustl.edu 37 5 140626837 140626837 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 140626837 140626837 C T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1691 p.P564L 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 58 0 0.00 67 7 9.46 PCDHB5 0 genome.wustl.edu 37 5 140516291 140516291 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 140516291 140516291 G - DEL PCDHB5 ENST00000231134 human ensembl 74_37 +1 known frame_shift_del c.1275 p.T427fs 0.607 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 PCDHB5 HGNC ENSG00000113209 tier1 162 0 0.00 104 42 28.77 PCDHGA9 0 genome.wustl.edu 37 5 140784429 140784429 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 140784429 140784429 C T SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.1910 p.A637V 0.000 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 PCDHGA9 HGNC ENSG00000261934 tier1 - - 41 0 0.00 35 13 27.08 PCIF1 0 genome.wustl.edu 37 20 44569841 44569841 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 44569841 44569841 G A SNP PCIF1 ENST00000372409 human ensembl 74_37 +1 known missense c.668 p.R223Q 1.000 NULL pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PCIF1 HGNC ENSG00000100982 tier1 - - 57 0 0.00 35 14 28.57 PDE4DIP 0 genome.wustl.edu 37 1 144879327 144879327 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 144879327 144879327 G T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.4123 p.L1375I 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 330 0 0.00 258 52 16.67 PDIA5 0 genome.wustl.edu 37 3 122869089 122869089 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 122869089 122869089 C - DEL PDIA5 ENST00000316218 human ensembl 74_37 +1 known frame_shift_del c.1151 p.P386fs 1.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 tier1 73 0 0.00 46 21 31.34 PDK4 0 genome.wustl.edu 37 7 95222152 95222152 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 95222152 95222152 A G SNP PDK4 ENST00000005178 human ensembl 74_37 -1 known missense c.449 p.V150A 1.000 pfam_BCDHK/PDK_N,superfamily_BCDHK/PDK_N pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK4 HGNC ENSG00000004799 tier1 - - 77 0 0.00 45 30 40.00 PDPN 0 genome.wustl.edu 37 1 13940907 13940907 + Splice_Site SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 13940907 13940907 G A SNP PDPN ENST00000294489 human ensembl 74_37 +1 known splice_site c.710+1 e5+1 1.000 - - - no_errors PDPN HGNC ENSG00000162493 tier1 - - 90 0 0.00 60 24 28.57 PDS5B 0 genome.wustl.edu 37 13 33262631 33262631 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 13 33262631 33262631 C A SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.1394 p.P465H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 tier1 - - 84 0 0.00 71 23 24.47 PEAK1 0 genome.wustl.edu 37 15 77473897 77473897 + Missense_Mutation SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 77473897 77473897 T G SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.372 p.E124D 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 tier1 - - 183 0 0.00 135 63 31.82 PEG3 0 genome.wustl.edu 37 19 57325987 57325987 + Missense_Mutation SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 57325987 57325987 T G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3823 p.S1275R 0.272 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 57 0 0.00 33 20 37.74 PEX10 0 genome.wustl.edu 37 1 2338295 2338295 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 2338295 2338295 G A SNP PEX10 ENST00000288774 human ensembl 74_37 -1 known missense c.700 p.R234C 0.067 pfam_Pex_N pfam_Pex_N,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX10 HGNC ENSG00000157911 tier1 - - 11 0 0.00 7 4 36.36 PHEX 0 genome.wustl.edu 37 X 22231058 22231058 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 22231058 22231058 G T SNP PHEX ENST00000379374 human ensembl 74_37 +1 known missense c.1683 p.W561C 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 tier1 - - 169 0 0.00 98 34 25.76 PHF12 0 genome.wustl.edu 37 17 27239800 27239800 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 27239800 27239800 T C SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known missense c.1789 p.T597A 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 tier1 - - 36 0 0.00 44 13 22.81 PHF20L1 0 genome.wustl.edu 37 8 133854921 133854922 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 133854921 133854922 - A INS PHF20L1 ENST00000220847 human ensembl 74_37 +1 known frame_shift_ins c.710_711 p.M239fs 0.000:0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 tier1 58 0 0.00 87 15 14.71 PHF20L1 0 genome.wustl.edu 37 8 133856424 133856424 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 133856424 133856424 A G SNP PHF20L1 ENST00000220847 human ensembl 74_37 +1 known silent c.933 p.V311 0.025 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 tier1 - - 76 0 0.00 74 17 18.68 PHRF1 0 genome.wustl.edu 37 11 610651 610651 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 610651 610651 G A SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.4567 p.A1523T 0.071 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 tier1 rs202209293 - 25 0 0.00 20 6 23.08 PI4K2A 0 genome.wustl.edu 37 10 99410803 99410803 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 99410803 99410803 C T SNP PI4K2A ENST00000370631 human ensembl 74_37 +1 known missense c.541 p.R181C 1.000 pfam_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 tier1 - - 64 0 0.00 40 19 32.20 PIK3AP1 0 genome.wustl.edu 37 10 98416610 98416610 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 98416610 98416610 G A SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known missense c.512 p.T171M 0.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 tier1 - - 61 0 0.00 41 25 37.88 PIPSL 0 genome.wustl.edu 37 10 95721201 95721201 + RNA SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 95721201 95721201 C T SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.647 - - - no_errors PIPSL HGNC ENSG00000180764 tier1 - - 85 0 0.00 70 23 24.73 PIWIL2 0 genome.wustl.edu 37 8 22175773 22175773 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 22175773 22175773 A - DEL PIWIL2 ENST00000356766 human ensembl 74_37 +1 known frame_shift_del c.2388 p.K798fs 0.999 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 tier1 26 0 0.00 46 11 19.30 PJA2 0 genome.wustl.edu 37 5 108714844 108714844 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 108714844 108714844 C T SNP PJA2 ENST00000361189 human ensembl 74_37 -1 known missense c.344 p.S115N 0.929 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 tier1 - - 86 0 0.00 51 18 26.09 PKD1 0 genome.wustl.edu 37 16 2155993 2155993 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 2155993 2155993 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.7736 p.G2579D 0.000 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 tier1 - - 52 0 0.00 31 4 11.11 PKN2 0 genome.wustl.edu 37 1 89270104 89270104 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 89270104 89270104 C T SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known missense c.1312 p.R438C 1.000 superfamily_C2_dom,smart_C2_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 tier1 - - 40 0 0.00 13 11 45.83 PKNOX2 0 genome.wustl.edu 37 11 125301354 125301354 + RNA DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 125301354 125301354 G - DEL PKNOX2 ENST00000530517 human ensembl 74_37 +1 known rna NULL NULL 0.181 - - - no_errors PKNOX2 HGNC ENSG00000165495 tier1 11 0 0.00 10 6 37.50 PLEC 0 genome.wustl.edu 37 8 145003293 145003293 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 145003293 145003293 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.3649 p.L1217 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 9 0 0.00 0 4 100.00 PLEKHA8 0 genome.wustl.edu 37 7 30118358 30118358 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 30118358 30118358 C T SNP PLEKHA8 ENST00000449726 human ensembl 74_37 +1 known silent c.1515 p.D505 1.000 superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 tier1 - - 62 0 0.00 33 21 38.89 PLEKHA8P1 0 genome.wustl.edu 37 12 45567067 45567067 + RNA SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 45567067 45567067 T C SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 tier1 - - 93 0 0.00 70 13 15.66 PLK1 0 genome.wustl.edu 37 16 23692279 23692279 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 23692279 23692279 A G SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known missense c.622 p.K208E 1.000 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_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 tier1 - - 128 0 0.00 65 36 35.64 POLE 0 genome.wustl.edu 37 12 133248884 133248884 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 133248884 133248884 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.1711 p.L571 1.000 smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 62 0 0.00 53 21 28.38 POLR1A 0 genome.wustl.edu 37 2 86281307 86281307 + Nonsense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 86281307 86281307 G A SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known nonsense c.2164 p.R722* 0.865 pfam_RNA_pol_Rpb1_3 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 tier1 - - 24 0 0.00 19 9 32.14 POP1 0 genome.wustl.edu 37 8 99168468 99168468 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 99168468 99168468 A - DEL POP1 ENST00000349693 human ensembl 74_37 +1 known frame_shift_del c.2248 p.T752fs 0.001 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 tier1 76 0 0.00 76 16 17.39 PPP1R1B 0 genome.wustl.edu 37 17 37786261 37786261 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 37786261 37786261 A G SNP PPP1R1B ENST00000254079 human ensembl 74_37 +1 known missense c.202 p.R68G 1.000 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1B HGNC ENSG00000131771 tier1 - - 62 0 0.00 33 12 26.67 PPP3CA 0 genome.wustl.edu 37 4 101947177 101947177 + Nonsense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 101947177 101947177 C A SNP PPP3CA ENST00000394854 human ensembl 74_37 -1 known nonsense c.1411 p.E471* 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 tier1 - - 100 0 0.00 66 24 26.67 PPRC1 0 genome.wustl.edu 37 10 103907125 103907125 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 103907125 103907125 C - DEL PPRC1 ENST00000278070 human ensembl 74_37 +1 known frame_shift_del c.4376 p.P1461fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 tier1 63 0 0.00 44 20 31.25 PRDM2 0 genome.wustl.edu 37 1 14108748 14108749 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 14108748 14108749 - A INS PRDM2 ENST00000235372 human ensembl 74_37 +1 known frame_shift_ins c.4458_4459 p.V1489fs 0.998:1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 tier1 328 0 0.00 221 61 21.63 PREX2 0 genome.wustl.edu 37 8 69017371 69017371 + Splice_Site SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 69017371 69017371 A C SNP PREX2 ENST00000529398 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.001 - - - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 66 0 0.00 53 24 31.17 PRKACB 0 genome.wustl.edu 37 1 84647913 84647913 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 84647913 84647913 A - DEL PRKACB ENST00000370685 human ensembl 74_37 +1 known frame_shift_del c.280 p.T96fs 1.000 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACB HGNC ENSG00000142875 tier1 75 0 0.00 57 27 32.14 PRKCA 0 genome.wustl.edu 37 17 64800155 64800155 + Nonstop_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 64800155 64800155 A G SNP PRKCA ENST00000413366 human ensembl 74_37 +1 known nonstop c.2019 p.*673W 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCA HGNC ENSG00000154229 tier1 - - 116 0 0.00 62 31 33.33 PRR14L 0 genome.wustl.edu 37 22 32108311 32108311 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 32108311 32108311 T - DEL PRR14L ENST00000397493 human ensembl 74_37 -1 known frame_shift_del c.5514 p.K1838fs 1.000 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 tier1 43 0 0.00 37 8 17.78 PRR3 0 genome.wustl.edu 37 6 30530415 30530415 + RNA SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 30530415 30530415 G A SNP PRR3 ENST00000481741 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRR3 HGNC ENSG00000204576 tier1 - - 11 0 0.00 3 7 70.00 PRX 0 genome.wustl.edu 37 19 40900550 40900550 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 40900550 40900550 C T SNP PRX ENST00000324001 human ensembl 74_37 -1 known missense c.3709 p.A1237T 0.152 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 tier1 - - 62 0 0.00 24 13 35.14 PSEN2 0 genome.wustl.edu 37 1 227068362 227068362 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 227068362 227068362 G A SNP PSEN2 ENST00000391872 human ensembl 74_37 +1 known missense c.16 p.V6I 0.001 NULL pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS2,prints_Peptidase_A22A - no_errors PSEN2 HGNC ENSG00000143801 tier1 - - 195 0 0.00 132 57 30.16 PTP4A1 0 genome.wustl.edu 37 6 64290013 64290015 + In_Frame_Del DEL TCG TCG - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 TCG TCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 64290013 64290015 TCG - DEL PTP4A1 ENST00000370651 human ensembl 74_37 +1 known in_frame_del c.456_458 p.R153in_frame_del 1.000:1.000:1.000 smart_Tyr_Pase_cat pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A1 HGNC ENSG00000112245 tier1 143 0 0.00 79 30 27.52 PTPN21 0 genome.wustl.edu 37 14 88946485 88946485 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 88946485 88946485 G A SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known silent c.1290 p.D430 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 tier1 - - 30 0 0.00 24 13 35.14 PTPRG 0 genome.wustl.edu 37 3 62118332 62118332 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 62118332 62118332 C T SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known silent c.672 p.V224 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 tier1 - - 183 0 0.00 124 50 28.74 PTTG1IP 0 genome.wustl.edu 37 21 46281076 46281076 + Splice_Site SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 21 46281076 46281076 A G SNP PTTG1IP ENST00000330938 human ensembl 74_37 -1 known splice_site c.277+2 e3+2 1.000 - - - no_errors PTTG1IP HGNC ENSG00000183255 tier1 - - 97 0 0.00 36 11 23.40 R3HDM1 0 genome.wustl.edu 37 2 136437772 136437773 + Frame_Shift_Ins INS - - C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 136437772 136437773 0 C INS R3HDM1 ENST00000264160 human ensembl 74_37 +1 known frame_shift_ins c.2232_2233 p.H745fs 1.000:1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 171 0 0.00 162 11 6.36 RABL6 0 genome.wustl.edu 37 9 139733533 139733533 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 139733533 139733533 G T SNP RABL6 ENST00000371663 human ensembl 74_37 +1 known missense c.1456 p.A486S 0.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 tier1 - - 32 0 0.00 25 8 24.24 RAD51D 0 genome.wustl.edu 37 17 33446676 33446676 + RNA DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 33446676 33446676 G - DEL RAD51D ENST00000590380 human ensembl 74_37 -1 known rna NULL NULL 0.183 - - - no_errors RAD51D HGNC ENSG00000185379 tier1 33 0 0.00 19 10 34.48 RAI1 0 genome.wustl.edu 37 17 17697093 17697094 + In_Frame_Ins INS - - CAG TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 17697093 17697094 - CAG INS RAI1 ENST00000353383 human ensembl 74_37 +1 known in_frame_ins c.831_832 p.281in_frame_insQ 0.100:0.831 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 tier1 62 0 0.00 47 10 17.54 RASGRP3 0 genome.wustl.edu 37 2 33783772 33783772 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 33783772 33783772 C T SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known missense c.1739 p.T580I 0.586 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 tier1 - - 67 0 0.00 46 18 27.69 RAVER1 0 genome.wustl.edu 37 19 10433828 10433828 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 10433828 10433828 C - DEL RAVER1 ENST00000293677 human ensembl 74_37 -1 known frame_shift_del c.1122 p.K375fs 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 tier1 16 0 0.00 15 4 21.05 RBBP8 0 genome.wustl.edu 37 18 20572853 20572853 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 20572853 20572853 A - DEL RBBP8 ENST00000327155 human ensembl 74_37 +1 known frame_shift_del c.1063 p.K357fs 0.002 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 tier1 89 0 0.00 54 25 31.65 RBM12 0 genome.wustl.edu 37 20 34241895 34241895 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 34241895 34241895 A - DEL RBM12 ENST00000359646 human ensembl 74_37 -1 known frame_shift_del c.1350 p.F450fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 tier1 115 0 0.00 94 28 22.95 RBM41 0 genome.wustl.edu 37 X 106358657 106358657 + Nonsense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 106358657 106358657 G A SNP RBM41 ENST00000372479 human ensembl 74_37 -1 known nonsense c.448 p.R150* 0.993 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM41 HGNC ENSG00000089682 tier1 - - 160 0 0.00 87 41 31.78 RBMS2 0 genome.wustl.edu 37 12 56965606 56965606 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 56965606 56965606 C T SNP RBMS2 ENST00000262031 human ensembl 74_37 +1 known missense c.509 p.T170I 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMS2 HGNC ENSG00000076067 tier1 - - 23 0 0.00 20 10 33.33 RBP3 0 genome.wustl.edu 37 10 48389580 48389580 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 48389580 48389580 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.1298 p.S433L 0.943 smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 tier1 - - 26 0 0.00 26 25 49.02 RDH5 0 genome.wustl.edu 37 12 56118161 56118161 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 56118161 56118161 G T SNP RDH5 ENST00000257895 human ensembl 74_37 +1 known missense c.789 p.K263N 1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH5 HGNC ENSG00000135437 tier1 - - 76 0 0.00 48 34 41.46 REEP1 0 genome.wustl.edu 37 2 86459825 86459825 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 86459825 86459825 G A SNP REEP1 ENST00000538924 human ensembl 74_37 -1 known missense c.539 p.P180L 0.124 NULL pfam_TB2_DP1_HVA22 - no_errors REEP1 HGNC ENSG00000068615 tier1 - - 33 0 0.00 23 16 41.03 REPS2 0 genome.wustl.edu 37 X 17165605 17165605 + RNA DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 17165605 17165605 C - DEL REPS2 ENST00000469714 human ensembl 74_37 +1 known rna NULL NULL 0.910 - - - no_errors REPS2 HGNC ENSG00000169891 tier1 243 0 0.00 185 56 23.24 RGS20 0 genome.wustl.edu 37 8 54791859 54791859 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 54791859 54791859 G A SNP RGS20 ENST00000297313 human ensembl 74_37 +1 known silent c.207 p.P69 0.747 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS20 HGNC ENSG00000147509 tier1 - - 202 0 0.00 215 16 6.93 RGS21 0 genome.wustl.edu 37 1 192335062 192335062 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 192335062 192335062 C T SNP RGS21 ENST00000417209 human ensembl 74_37 +1 known silent c.267 p.D89 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_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS21 HGNC ENSG00000253148 tier1 - - 116 0 0.00 79 41 34.17 RGS6 0 genome.wustl.edu 37 14 72925031 72925031 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 72925031 72925031 A G SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known silent c.288 p.P96 0.200 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 tier1 - - 94 0 0.00 42 20 32.26 RIC3 0 genome.wustl.edu 37 11 8148283 8148283 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 8148283 8148283 A G SNP RIC3 ENST00000309737 human ensembl 74_37 -1 known missense c.593 p.M198T 1.000 NULL NULL - no_errors RIC3 HGNC ENSG00000166405 tier1 - - 76 0 0.00 55 23 29.11 RIC8B 0 genome.wustl.edu 37 12 107237697 107237697 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 107237697 107237697 G A SNP RIC8B ENST00000392837 human ensembl 74_37 +1 known missense c.1133 p.R378Q 1.000 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8B HGNC ENSG00000111785 tier1 - - 88 0 0.00 41 27 39.71 RICTOR 0 genome.wustl.edu 37 5 38954826 38954826 + RNA DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 38954826 38954826 T - DEL RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RICTOR HGNC ENSG00000164327 tier1 67 0 0.00 38 13 25.49 RMDN2 0 genome.wustl.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 38178783 38178783 T - DEL RMDN2 ENST00000234195 human ensembl 74_37 +1 known frame_shift_del c.425 p.F144fs 0.000 NULL NULL - no_errors RMDN2 HGNC ENSG00000115841 tier1 68 0 0.00 53 27 33.75 RMDN3 0 genome.wustl.edu 37 15 41029894 41029894 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 41029894 41029894 T - DEL RMDN3 ENST00000260385 human ensembl 74_37 -1 known frame_shift_del c.1156 p.T386fs 1.000 NULL NULL - no_errors RMDN3 HGNC ENSG00000137824 tier1 54 0 0.00 50 8 13.79 RNASE12 0 genome.wustl.edu 37 14 21058704 21058704 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 21058704 21058704 T C SNP RNASE12 ENST00000556526 human ensembl 74_37 -1 known missense c.179 p.H60R 0.914 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE12 HGNC ENSG00000258436 tier1 - - 74 0 0.00 59 19 24.36 RNF150 0 genome.wustl.edu 37 4 142053546 142053546 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 142053546 142053546 G A SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known silent c.417 p.N139 1.000 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 tier1 - - 9 0 0.00 9 4 30.77 RNF168 0 genome.wustl.edu 37 3 196199010 196199010 + Silent SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 196199010 196199010 G T SNP RNF168 ENST00000318037 human ensembl 74_37 -1 known silent c.1396 p.R466 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC ENSG00000163961 tier1 - - 205 0 0.00 130 67 33.84 RNF213 0 genome.wustl.edu 37 17 78321995 78321995 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 78321995 78321995 A G SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.9860 p.Y3287C 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 63 0 0.00 48 22 31.43 RNF216 0 genome.wustl.edu 37 7 5781309 5781309 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 5781309 5781309 C T SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known silent c.339 p.V113 0.890 NULL smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 tier1 - - 183 0 0.00 130 47 26.55 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 tier1 97 0 0.00 85 12 12.37 ROBO2 0 genome.wustl.edu 37 3 77684125 77684125 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 77684125 77684125 A - DEL ROBO2 ENST00000461745 human ensembl 74_37 +1 known frame_shift_del c.3865 p.K1290fs 0.976 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 54 0 0.00 33 14 29.79 ROR2 0 genome.wustl.edu 37 9 94487099 94487099 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 94487099 94487099 G A SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known silent c.1677 p.G559 0.049 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 tier1 - - 47 0 0.00 42 6 12.50 ROS1 0 genome.wustl.edu 37 6 117687392 117687392 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 117687392 117687392 C A SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.2659 p.A887S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 tier1 - - 74 0 0.00 20 27 57.45 RP1 0 genome.wustl.edu 37 8 55538813 55538813 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 55538813 55538813 A - DEL RP1 ENST00000220676 human ensembl 74_37 +1 known frame_shift_del c.2371 p.R793fs 0.177 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 81 0 0.00 76 18 19.15 RPS6KA2 0 genome.wustl.edu 37 6 166902326 166902326 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 166902326 166902326 C T SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known missense c.977 p.R326Q 0.998 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 tier1 - - 41 0 0.00 20 8 28.57 RRBP1 0 genome.wustl.edu 37 20 17640852 17640852 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 17640852 17640852 G A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.301 p.R101W 0.000 pfam_Rib_rcpt_KP pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 tier1 - - 27 0 0.00 12 8 40.00 RRN3P1 0 genome.wustl.edu 37 16 21817539 21817539 + RNA SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 21817539 21817539 A G SNP RRN3P1 ENST00000546471 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RRN3P1 HGNC ENSG00000248124 tier1 - - 57 0 0.00 44 20 31.25 RSU1 0 genome.wustl.edu 37 10 16737155 16737156 + Splice_Site INS - - T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 16737155 16737156 - T INS RSU1 ENST00000345264 human ensembl 74_37 -1 known splice_site_ins c.599-2_599-1 e7-1 1.000:1.000 - - - no_errors RSU1 HGNC ENSG00000148484 tier1 33 0 0.00 25 5 16.67 RTCA 0 genome.wustl.edu 37 1 100750859 100750859 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 100750859 100750859 A G SNP RTCA ENST00000260563 human ensembl 74_37 +1 known missense c.914 p.D305G 1.000 pfam_RNA3'_phos_cyclase_dom,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,tigrfam_RNA3'_term_phos_cyc_type_1 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1 - no_errors RTCA HGNC ENSG00000137996 tier1 - - 79 0 0.00 49 15 23.44 RTEL1 0 genome.wustl.edu 37 20 62292799 62292799 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 62292799 62292799 G A SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.251 p.R84Q 0.000 superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 tier1 - - 43 0 0.00 20 5 20.00 RTL1 0 genome.wustl.edu 37 14 101350917 101350917 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 101350917 101350917 G T SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.209 p.P70H 1.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 tier1 - - 79 0 0.00 52 16 23.53 RUNX2 0 genome.wustl.edu 37 6 45390604 45390604 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 45390604 45390604 C T SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known silent c.537 p.A179 1.000 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 tier1 - - 35 0 0.00 25 20 44.44 RXRA 0 genome.wustl.edu 37 9 137323779 137323779 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 137323779 137323779 C T SNP RXRA ENST00000481739 human ensembl 74_37 +1 known missense c.1072 p.R358W 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoid-X_rcpt/HNF4 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 tier1 - - 48 0 0.00 27 7 20.59 RYK 0 genome.wustl.edu 37 3 133901877 133901878 + Frame_Shift_Del DEL CA CA - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 133901877 133901878 CA - DEL RYK ENST00000427044 human ensembl 74_37 -1 known frame_shift_del c.574_573 p.E192fs 1.000:0.089 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RYK HGNC ENSG00000163785 tier1 18 0 0.00 2 2 50.00 SAGE1 0 genome.wustl.edu 37 X 134986646 134986646 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 134986646 134986646 C T SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known silent c.231 p.V77 0.001 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 tier1 - - 204 0 0.00 105 60 36.36 SAMD1 0 genome.wustl.edu 37 19 14199996 14199996 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 14199996 14199996 T C SNP SAMD1 ENST00000533683 human ensembl 74_37 -1 novel missense c.815 p.K272R 0.981 NULL pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD1 HGNC ENSG00000141858 tier1 - - 11 0 0.00 11 5 31.25 SAMD4A 0 genome.wustl.edu 37 14 55255768 55255768 + RNA DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 55255768 55255768 T - DEL SAMD4A ENST00000553988 human ensembl 74_37 +1 known rna NULL NULL 0.920 - - - no_errors SAMD4A HGNC ENSG00000020577 tier1 22 0 0.00 14 7 33.33 SARS 0 genome.wustl.edu 37 1 109774213 109774213 + RNA SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 109774213 109774213 C T SNP SARS ENST00000471705 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SARS HGNC ENSG00000031698 tier1 - - 68 0 0.00 27 15 35.71 SART3 0 genome.wustl.edu 37 12 108920104 108920104 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 108920104 108920104 G A SNP SART3 ENST00000228284 human ensembl 74_37 -1 known silent c.2142 p.S714 0.975 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 tier1 - - 64 0 0.00 45 22 32.84 SBNO2 0 genome.wustl.edu 37 19 1108860 1108860 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 1108860 1108860 G A SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known silent c.3534 p.I1178 0.964 NULL superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 15 0 0.00 10 7 41.18 SDK2 0 genome.wustl.edu 37 17 71389698 71389698 + Splice_Site SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 71389698 71389698 C A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known splice_site c.3898+1 e27+1 1.000 - - - no_errors SDK2 HGNC ENSG00000069188 tier1 - - 31 0 0.00 11 9 45.00 SEC16A 0 genome.wustl.edu 37 9 139368994 139368994 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 139368994 139368994 C T SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.3074 p.S1025N 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 - - 20 0 0.00 22 7 24.14 SEC1P 0 genome.wustl.edu 37 19 49184031 49184031 + RNA SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 49184031 49184031 C T SNP SEC1P ENST00000430145 human ensembl 74_37 +1 known rna NULL NULL 0.191 - - - no_errors SEC1P HGNC ENSG00000232871 tier1 - - 8 0 0.00 10 9 47.37 SEPT3 0 genome.wustl.edu 37 22 42377814 42377814 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 42377814 42377814 G A SNP SEPT3 ENST00000396426 human ensembl 74_37 +1 known missense c.176 p.G59D 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC ENSG00000100167 tier1 - - 45 0 0.00 32 6 15.79 SEZ6L 0 genome.wustl.edu 37 22 26688839 26688839 + Nonsense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 26688839 26688839 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known nonsense c.562 p.R188* 0.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 tier1 - - 95 0 0.00 94 35 27.13 SF3B4 0 genome.wustl.edu 37 1 149897739 149897739 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 149897739 149897739 A G SNP SF3B4 ENST00000271628 human ensembl 74_37 -1 known missense c.902 p.M301T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 tier1 - - 40 0 0.00 20 10 33.33 SFI1 0 genome.wustl.edu 37 22 32010836 32010836 + Nonsense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 32010836 32010836 C T SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known nonsense c.3058 p.Q1020* 0.190 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 tier1 - - 19 0 0.00 8 4 33.33 SFTPB 0 genome.wustl.edu 37 2 85890590 85890590 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 85890590 85890590 G A SNP SFTPB ENST00000393822 human ensembl 74_37 -1 known missense c.917 p.P306L 0.002 NULL pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin - no_errors SFTPB HGNC ENSG00000168878 tier1 - - 23 0 0.00 25 11 30.56 SGSM1 0 genome.wustl.edu 37 22 25315860 25315860 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 25315860 25315860 G A SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known silent c.3258 p.A1086 0.502 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 tier1 - - 31 0 0.00 18 13 41.94 SH3BP1 0 genome.wustl.edu 37 22 38041398 38041398 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 38041398 38041398 C T SNP SH3BP1 ENST00000357436 human ensembl 74_37 +1 known missense c.805 p.H269Y 1.000 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 tier1 - - 82 0 0.00 51 20 28.17 SH3TC2 0 genome.wustl.edu 37 5 148407354 148407354 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 148407354 148407354 G A SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known silent c.1941 p.G647 0.980 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 tier1 - - 26 0 0.00 29 13 30.95 SHB 0 genome.wustl.edu 37 9 37919927 37919927 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 37919927 37919927 G A SNP SHB ENST00000377707 human ensembl 74_37 -1 known missense c.1421 p.P474L 0.984 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHB HGNC ENSG00000107338 tier1 - - 72 0 0.00 42 24 36.36 SHB 0 genome.wustl.edu 37 9 38016119 38016119 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 38016119 38016119 C A SNP SHB ENST00000377707 human ensembl 74_37 -1 known missense c.727 p.A243S 0.998 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHB HGNC ENSG00000107338 tier1 - - 45 0 0.00 24 10 29.41 SHMT1 0 genome.wustl.edu 37 17 18232626 18232626 + Silent SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 18232626 18232626 T C SNP SHMT1 ENST00000316694 human ensembl 74_37 -1 known silent c.1248 p.K416 1.000 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT1 HGNC ENSG00000176974 tier1 - - 34 0 0.00 19 7 26.92 SHPRH 0 genome.wustl.edu 37 6 146244837 146244837 + Nonsense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 146244837 146244837 G A SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known nonsense c.3514 p.R1172* 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 tier1 - - 127 0 0.00 110 15 12.00 SHROOM2 0 genome.wustl.edu 37 X 9859144 9859144 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 9859144 9859144 G A SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.445 p.A149T 0.006 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 - - 22 0 0.00 10 5 33.33 SIDT1 0 genome.wustl.edu 37 3 113295781 113295781 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 113295781 113295781 C T SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known silent c.528 p.A176 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 tier1 - - 220 0 0.00 156 58 27.10 SKOR1 0 genome.wustl.edu 37 15 68118278 68118278 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 68118278 68118278 G A SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known missense c.112 p.G38S 1.000 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 tier1 - - 85 0 0.00 54 26 32.50 SLC22A24 0 genome.wustl.edu 37 11 62910936 62910936 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 62910936 62910936 G A SNP SLC22A24 ENST00000326192 human ensembl 74_37 -1 known missense c.316 p.P106S 0.001 pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 tier1 - - 24 0 0.00 44 12 21.43 SLC22A6 0 genome.wustl.edu 37 11 62751910 62751910 + Nonsense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 62751910 62751910 G A SNP SLC22A6 ENST00000377871 human ensembl 74_37 -1 known nonsense c.253 p.Q85* 0.002 tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 tier1 - - 88 0 0.00 106 21 16.54 SLC25A12 0 genome.wustl.edu 37 2 172666096 172666096 + RNA SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 172666096 172666096 C T SNP SLC25A12 ENST00000494892 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors SLC25A12 HGNC ENSG00000115840 tier1 - - 101 0 0.00 84 51 37.78 SLC25A24 0 genome.wustl.edu 37 1 108700183 108700183 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 108700183 108700183 T - DEL SLC25A24 ENST00000565488 human ensembl 74_37 -1 known frame_shift_del c.570 p.K190fs 0.000 superfamily_Mt_carrier_dom,prints_Graves_DC pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A24 HGNC ENSG00000085491 tier1 90 0 0.00 72 34 32.08 SLC25A41 0 genome.wustl.edu 37 19 6429780 6429780 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 6429780 6429780 G A SNP SLC25A41 ENST00000458275 human ensembl 74_37 -1 known missense c.677 p.A226V 0.437 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier - no_errors SLC25A41 HGNC ENSG00000181240 tier1 - - 31 0 0.00 25 9 26.47 SLC35A3 0 genome.wustl.edu 37 1 100477012 100477012 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 100477012 100477012 G T SNP SLC35A3 ENST00000370153 human ensembl 74_37 +1 known missense c.683 p.S228I 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A3 HGNC ENSG00000117620 tier1 - - 108 0 0.00 64 10 13.51 SLC36A1 0 genome.wustl.edu 37 5 150858882 150858882 + Silent SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 150858882 150858882 T C SNP SLC36A1 ENST00000243389 human ensembl 74_37 +1 known silent c.991 p.L331 0.914 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 tier1 - - 120 0 0.00 74 55 42.31 SLC45A3 0 genome.wustl.edu 37 1 205632684 205632684 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 205632684 205632684 G A SNP SLC45A3 ENST00000367145 human ensembl 74_37 -1 known missense c.235 p.R79C 0.866 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC ENSG00000158715 tier1 - - 61 0 0.00 31 14 31.11 SLC4A11 0 genome.wustl.edu 37 20 3209826 3209827 + Frame_Shift_Ins INS - - ACCG TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 3209826 3209827 - ACCG INS SLC4A11 ENST00000380059 human ensembl 74_37 -1 known frame_shift_ins c.2062_2061 p.A687fs 0.997:0.842 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 tier1 74 0 0.00 33 14 29.79 SLC5A4 0 genome.wustl.edu 37 22 32650150 32650150 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 32650150 32650150 A G SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known silent c.186 p.G62 0.957 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 tier1 - - 54 0 0.00 32 21 39.62 SLC6A15 0 genome.wustl.edu 37 12 85279728 85279728 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 85279728 85279728 T C SNP SLC6A15 ENST00000266682 human ensembl 74_37 -1 known missense c.409 p.S137G 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A15 HGNC ENSG00000072041 tier1 - - 117 0 0.00 81 38 31.93 SLC7A14 0 genome.wustl.edu 37 3 170219001 170219001 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 170219001 170219001 G A SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known silent c.438 p.G146 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 tier1 - - 36 0 0.00 26 11 28.95 SLC7A2 0 genome.wustl.edu 37 8 17402081 17402081 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 17402081 17402081 T - DEL SLC7A2 ENST00000004531 human ensembl 74_37 +1 known frame_shift_del c.618 p.F208fs 0.996 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 tier1 69 0 0.00 56 12 17.65 SLC9A7 0 genome.wustl.edu 37 X 46466414 46466414 + Silent SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 46466414 46466414 T G SNP SLC9A7 ENST00000328306 human ensembl 74_37 -1 known silent c.2151 p.L717 0.525 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 tier1 - - 86 0 0.00 59 14 19.18 SLCO1B7 0 genome.wustl.edu 37 12 21196321 21196321 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 21196321 21196321 G T SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known missense c.781 p.G261C 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 tier1 - - 164 0 0.00 115 50 30.30 SLCO6A1 0 genome.wustl.edu 37 5 101834337 101834337 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 101834337 101834337 T C SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.212 p.K71R 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 227 0 0.00 146 68 31.78 SLITRK1 0 genome.wustl.edu 37 13 84454943 84454943 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 13 84454943 84454943 C T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.700 p.A234T 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 - - 46 0 0.00 40 18 31.03 SMARCA1 0 genome.wustl.edu 37 X 128626046 128626046 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 128626046 128626046 G A SNP SMARCA1 ENST00000371122 human ensembl 74_37 -1 known missense c.1687 p.P563S 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC ENSG00000102038 tier1 - - 221 0 0.00 119 47 28.31 SMARCA2 0 genome.wustl.edu 37 9 2033024 2033024 + Nonsense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 2033024 2033024 C T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known nonsense c.298 p.R100* 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 - - 114 0 0.00 68 31 31.31 SMG1 0 genome.wustl.edu 37 16 18937310 18937312 + In_Frame_Del DEL GCC GCC - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 18937310 18937312 GCC - DEL SMG1 ENST00000389467 human ensembl 74_37 -1 known in_frame_del c.54_52 p.G18in_frame_del 1.000:1.000:1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 tier1 9 0 0.00 12 5 29.41 SMG5 0 genome.wustl.edu 37 1 156236110 156236112 + In_Frame_Del DEL AGG AGG - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 156236110 156236112 AGG - DEL SMG5 ENST00000361813 human ensembl 74_37 -1 known in_frame_del c.1317_1315 p.P439in_frame_del 0.000:0.054:0.042 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 tier1 52 0 0.00 48 14 22.58 SMG7 0 genome.wustl.edu 37 1 183511569 183511569 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 183511569 183511569 A G SNP SMG7 ENST00000347615 human ensembl 74_37 +1 known missense c.1774 p.K592E 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 tier1 - - 57 0 0.00 34 19 35.85 SMPD4 0 genome.wustl.edu 37 2 130930875 130930875 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 130930875 130930875 C T SNP SMPD4 ENST00000409031 human ensembl 74_37 -1 known missense c.439 p.D147N 1.000 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 tier1 - - 86 0 0.00 69 35 33.65 SNAPC1 0 genome.wustl.edu 37 14 62242910 62242911 + Frame_Shift_Ins INS - - T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 62242910 62242911 - T INS SNAPC1 ENST00000216294 human ensembl 74_37 +1 known frame_shift_ins c.632_633 p.D214fs 1.000:0.961 NULL pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 tier1 43 0 0.00 41 20 32.79 SNIP1 0 genome.wustl.edu 37 1 38018165 38018166 + RNA INS - - AC TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 38018165 38018166 - AC INS SNIP1 ENST00000493916 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors SNIP1 HGNC ENSG00000163877 tier1 51 0 0.00 38 10 20.83 SNORD114-24 0 genome.wustl.edu 37 14 101451181 101451181 + RNA SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 101451181 101451181 T C SNP SNORD114-24 ENST00000365029 human ensembl 74_37 +1 known rna NULL NULL 0.161 - - - no_errors SNORD114-24 HGNC ENSG00000201899 tier1 - - 121 0 0.00 83 38 31.40 SNORD116-20 0 genome.wustl.edu 37 15 25333956 25333956 + RNA SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 25333956 25333956 G A SNP SNORD116-20 ENST00000384507 human ensembl 74_37 +1 known rna NULL NULL 0.177 - - - no_errors SNORD116-20 HGNC ENSG00000261069 tier1 - - 368 0 0.00 211 108 33.86 SNUPN 0 genome.wustl.edu 37 15 75897504 75897505 + Frame_Shift_Ins INS - - T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 75897504 75897505 - T INS SNUPN ENST00000371091 human ensembl 74_37 -1 known frame_shift_ins c.791_790 p.T264fs 0.998:0.588 pirsf_Snurportin-1 pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB - no_errors SNUPN HGNC ENSG00000169371 tier1 121 0 0.00 74 29 28.16 SOAT1 0 genome.wustl.edu 37 1 179316757 179316757 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 179316757 179316757 T - DEL SOAT1 ENST00000367619 human ensembl 74_37 +1 known frame_shift_del c.1140 p.F382fs 0.002 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 tier1 77 0 0.00 32 14 30.43 SON 0 genome.wustl.edu 37 21 34924270 34924270 + Silent SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 21 34924270 34924270 T G SNP SON ENST00000356577 human ensembl 74_37 +1 known silent c.2733 p.P911 0.998 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 tier1 - - 63 0 0.00 48 38 44.19 SORBS1 0 genome.wustl.edu 37 10 97096288 97096288 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 97096288 97096288 C T SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.3629 p.G1210D 0.911 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 - - 42 0 0.00 28 9 24.32 SORCS3 0 genome.wustl.edu 37 10 106924110 106924110 + Silent SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 106924110 106924110 C A SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known silent c.1782 p.S594 0.956 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 47 0 0.00 20 10 33.33 SOWAHC 0 genome.wustl.edu 37 2 110373291 110373291 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 110373291 110373291 G A SNP SOWAHC ENST00000356454 human ensembl 74_37 +1 known missense c.1225 p.G409S 0.988 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHC HGNC ENSG00000198142 tier1 - - 44 0 0.00 28 5 15.15 SOX7 0 genome.wustl.edu 37 8 10583692 10583692 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 10583692 10583692 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known silent c.879 p.P293 0.000 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 tier1 - - 37 0 0.00 26 7 21.21 SP8 0 genome.wustl.edu 37 7 20824806 20824806 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 20824806 20824806 C T SNP SP8 ENST00000418710 human ensembl 74_37 -1 known silent c.630 p.S210 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 tier1 - - 9 0 0.00 14 6 30.00 SPEN 0 genome.wustl.edu 37 1 16235913 16235914 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 16235913 16235914 0 A INS SPEN ENST00000375759 human ensembl 74_37 +1 known frame_shift_ins c.979_980 p.D329fs 1.000:1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 145 0 0.00 151 11 6.79 SPNS2 0 genome.wustl.edu 37 17 4416604 4416604 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 4416604 4416604 T C SNP SPNS2 ENST00000329078 human ensembl 74_37 +1 known missense c.433 p.S145P 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 tier1 - - 44 0 0.00 31 21 40.38 SRCAP 0 genome.wustl.edu 37 16 30749860 30749860 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 30749860 30749860 G - DEL SRCAP ENST00000262518 human ensembl 74_37 +1 known frame_shift_del c.8499 p.V2835fs 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 57 0 0.00 43 15 25.86 SREK1 0 genome.wustl.edu 37 5 65449338 65449338 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 65449338 65449338 G A SNP SREK1 ENST00000334121 human ensembl 74_37 +1 known missense c.209 p.R70H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 tier1 - - 139 0 0.00 89 51 36.43 SREK1 0 genome.wustl.edu 37 5 65466604 65466604 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 65466604 65466604 A - DEL SREK1 ENST00000334121 human ensembl 74_37 +1 known frame_shift_del c.1313 p.E440fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 tier1 9 0 0.00 6 3 33.33 SRP72 0 genome.wustl.edu 37 4 57333820 57333820 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 57333820 57333820 G - DEL SRP72 ENST00000342756 human ensembl 74_37 +1 known frame_shift_del c.19 p.V9fs 0.920 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 tier1 13 0 0.00 16 5 23.81 SSX7 0 genome.wustl.edu 37 X 52677312 52677312 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 52677312 52677312 G A SNP SSX7 ENST00000298181 human ensembl 74_37 -1 known silent c.465 p.S155 0.003 pfam_SSXRD_motif pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX7 HGNC ENSG00000187754 tier1 - - 205 0 0.00 109 57 34.34 ST3GAL4 0 genome.wustl.edu 37 11 126283889 126283889 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 126283889 126283889 G A SNP ST3GAL4 ENST00000356132 human ensembl 74_37 +1 known missense c.967 p.A323T 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL4 HGNC ENSG00000110080 tier1 - - 82 0 0.00 41 14 25.45 ST5 0 genome.wustl.edu 37 11 8752513 8752513 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 8752513 8752513 C T SNP ST5 ENST00000313726 human ensembl 74_37 -1 known silent c.324 p.A108 0.876 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 tier1 - - 74 0 0.00 38 33 46.48 STAB1 0 genome.wustl.edu 37 3 52554301 52554301 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 52554301 52554301 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.5494 p.R1832W 0.002 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 73 0 0.00 43 28 39.44 STAT1 0 genome.wustl.edu 37 2 191851647 191851647 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 191851647 191851647 G A SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.1154 p.T385M 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 tier1 - - 223 0 0.00 167 53 24.09 STAT2 0 genome.wustl.edu 37 12 56744034 56744034 + RNA DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 56744034 56744034 A - DEL STAT2 ENST00000557252 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors STAT2 HGNC ENSG00000170581 tier1 29 0 0.00 46 12 20.69 STRC 0 genome.wustl.edu 37 15 43892280 43892280 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 43892280 43892280 G A SNP STRC ENST00000450892 human ensembl 74_37 -1 known missense c.5117 p.S1706F 1.000 NULL NULL - no_errors STRC HGNC ENSG00000242866 tier1 - - 39 0 0.00 27 11 28.95 SUPT6H 0 genome.wustl.edu 37 17 27024095 27024095 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 27024095 27024095 A G SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.4204 p.S1402G 1.000 pfam_SH2,smart_SH2,pirsf_TF_Spt6,pfscan_SH2 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 tier1 - - 29 0 0.00 16 11 40.74 SYCP3 0 genome.wustl.edu 37 12 102122900 102122901 + Frame_Shift_Ins INS - - T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 102122900 102122901 - T INS SYCP3 ENST00000266743 human ensembl 74_37 -1 known frame_shift_ins c.644_643 p.I215fs 0.999:0.988 NULL pfam_Cor1/Xlr/Xmr - no_errors SYCP3 HGNC ENSG00000139351 tier1 67 0 0.00 50 15 23.08 SYCP3 0 genome.wustl.edu 37 12 102122901 102122901 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 102122901 102122901 T - DEL SYCP3 ENST00000266743 human ensembl 74_37 -1 known frame_shift_del c.643 p.I215fs 0.988 NULL pfam_Cor1/Xlr/Xmr - no_errors SYCP3 HGNC ENSG00000139351 tier1 68 0 0.00 45 21 31.82 SYMPK 0 genome.wustl.edu 37 19 46328454 46328454 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 46328454 46328454 G A SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known missense c.2465 p.T822M 0.996 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 tier1 - - 95 0 0.00 77 30 28.04 SYNRG 0 genome.wustl.edu 37 17 35899301 35899301 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 35899301 35899301 G A SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.3413 p.A1138V 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 tier1 - - 73 0 0.00 49 5 9.26 TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 tier1 27 0 0.00 26 5 16.13 TAF4B 0 genome.wustl.edu 37 18 23915191 23915191 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 18 23915191 23915191 A G SNP TAF4B ENST00000269142 human ensembl 74_37 +1 known missense c.2312 p.K771R 1.000 pfam_TAF4 pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 tier1 - - 68 0 0.00 39 21 35.00 TASP1 0 genome.wustl.edu 37 20 13415772 13415772 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 13415772 13415772 C T SNP TASP1 ENST00000337743 human ensembl 74_37 -1 known missense c.1015 p.V339M 0.986 NULL pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 tier1 - - 15 0 0.00 12 7 36.84 TBC1D12 0 genome.wustl.edu 37 10 96259980 96259980 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 96259980 96259980 G A SNP TBC1D12 ENST00000225235 human ensembl 74_37 +1 known missense c.1415 p.R472H 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D12 HGNC ENSG00000108239 tier1 - - 25 0 0.00 25 12 32.43 TBC1D23 0 genome.wustl.edu 37 3 100039735 100039736 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 100039735 100039736 - A INS TBC1D23 ENST00000394144 human ensembl 74_37 +1 known frame_shift_ins c.1938_1939 p.H649fs 1.000:1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 tier1 50 0 0.00 52 12 18.75 TBC1D25 0 genome.wustl.edu 37 X 48399742 48399742 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 48399742 48399742 C T SNP TBC1D25 ENST00000376771 human ensembl 74_37 +1 known missense c.145 p.P49S 0.300 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 tier1 - - 213 0 0.00 145 61 29.61 TBC1D8B 0 genome.wustl.edu 37 X 106069300 106069300 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 106069300 106069300 T - DEL TBC1D8B ENST00000357242 human ensembl 74_37 +1 known frame_shift_del c.868 p.F291fs 0.995 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 tier1 155 0 0.00 98 43 30.50 TBCD 0 genome.wustl.edu 37 17 80865646 80865646 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 80865646 80865646 G A SNP TBCD ENST00000355528 human ensembl 74_37 +1 known silent c.1932 p.T644 0.003 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 tier1 - - 22 0 0.00 21 5 19.23 TBX18 0 genome.wustl.edu 37 6 85470072 85470072 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 85470072 85470072 C T SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.500 p.R167H 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 tier1 - - 59 0 0.00 19 19 50.00 TCP11L1 0 genome.wustl.edu 37 11 33076207 33076207 + Missense_Mutation SNP C C G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 33076207 33076207 C G SNP TCP11L1 ENST00000527661 human ensembl 74_37 +1 known missense c.232 p.L78V 0.729 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L1 HGNC ENSG00000176148 tier1 - - 97 0 0.00 65 18 21.69 TCTEX1D2 0 genome.wustl.edu 37 3 196018247 196018248 + Splice_Site INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 196018247 196018248 - A INS TCTEX1D2 ENST00000325318 human ensembl 74_37 -1 known splice_site_ins c.382-3_382-2 e5-2 0.958:0.736 - - - no_errors TCTEX1D2 HGNC ENSG00000213123 tier1 112 0 0.00 97 29 23.02 TDRD3 0 genome.wustl.edu 37 13 61102993 61102994 + Frame_Shift_Ins INS - - T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 13 61102993 61102994 - T INS TDRD3 ENST00000535286 human ensembl 74_37 +1 known frame_shift_ins c.1634_1635 p.Y547fs 0.998:0.997 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 tier1 56 0 0.00 33 22 40.00 TDRD6 0 genome.wustl.edu 37 6 46657944 46657944 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 46657944 46657944 G A SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known silent c.2079 p.T693 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 tier1 - - 72 0 0.00 29 23 44.23 TEAD2 0 genome.wustl.edu 37 19 49850473 49850474 + Frame_Shift_Del DEL GG GG - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 49850473 49850474 GG - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883_882 p.H295fs 0.961:0.528 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 tier1 197 0 0.00 113 34 23.13 TENM1 0 genome.wustl.edu 37 X 123554388 123554388 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 123554388 123554388 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known silent c.4755 p.A1585 0.128 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 85 0 0.00 64 32 32.65 TEP1 0 genome.wustl.edu 37 14 20845640 20845640 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 20845640 20845640 C - DEL TEP1 ENST00000262715 human ensembl 74_37 -1 known frame_shift_del c.5887 p.A1963fs 0.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 tier1 46 0 0.00 47 17 26.56 TGFBI 0 genome.wustl.edu 37 5 135383107 135383107 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 5 135383107 135383107 C T SNP TGFBI ENST00000305126 human ensembl 74_37 +1 known missense c.769 p.R257W 0.990 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 tier1 - - 215 0 0.00 132 58 30.53 TIAL1 0 genome.wustl.edu 37 10 121335156 121335157 + RNA INS - - T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 121335156 121335157 - T INS TIAL1 ENST00000463089 human ensembl 74_37 -1 known rna NULL NULL 0.995:0.987 - - - no_errors TIAL1 HGNC ENSG00000151923 tier1 143 0 0.00 97 25 20.49 TJP1 0 genome.wustl.edu 37 15 30010842 30010842 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 30010842 30010842 A G SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known silent c.3504 p.H1168 0.001 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 tier1 - - 72 0 0.00 47 32 40.00 TLDC1 0 genome.wustl.edu 37 16 84520430 84520430 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 84520430 84520430 G A SNP TLDC1 ENST00000343629 human ensembl 74_37 -1 known silent c.765 p.N255 0.917 smart_TLDc pfam_TLDc,smart_TLDc - no_errors TLDC1 HGNC ENSG00000140950 tier1 - - 67 0 0.00 29 9 23.68 TM6SF1 0 genome.wustl.edu 37 15 83776585 83776585 + RNA SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 83776585 83776585 C T SNP TM6SF1 ENST00000564988 human ensembl 74_37 +1 known rna NULL NULL 0.098 - - - no_errors TM6SF1 HGNC ENSG00000136404 tier1 - - 9 0 0.00 6 4 40.00 TM7SF2 0 genome.wustl.edu 37 11 64882837 64882837 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 64882837 64882837 G A SNP TM7SF2 ENST00000279263 human ensembl 74_37 +1 known missense c.944 p.R315Q 0.616 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 - no_errors TM7SF2 HGNC ENSG00000149809 tier1 rs201258810 - 92 0 0.00 117 33 21.85 TM9SF2 0 genome.wustl.edu 37 13 100192902 100192902 + RNA DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 13 100192902 100192902 T - DEL TM9SF2 ENST00000466555 human ensembl 74_37 +1 known rna NULL NULL 0.045 - - - no_errors TM9SF2 HGNC ENSG00000125304 tier1 33 0 0.00 25 7 21.88 TMEM138 0 genome.wustl.edu 37 11 61136107 61136107 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 61136107 61136107 G A SNP TMEM138 ENST00000278826 human ensembl 74_37 +1 known missense c.415 p.V139I 0.000 NULL NULL - no_errors TMEM138 HGNC ENSG00000149483 tier1 rs141029883 - 58 0 0.00 27 14 34.15 TMEM181 0 genome.wustl.edu 37 6 159006386 159006386 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 6 159006386 159006386 G T SNP TMEM181 ENST00000367090 human ensembl 74_37 +1 known missense c.721 p.A241S 0.844 NULL NULL - no_errors TMEM181 HGNC ENSG00000146433 tier1 - - 81 0 0.00 57 23 28.75 TMEM63C 0 genome.wustl.edu 37 14 77708808 77708808 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 77708808 77708808 A G SNP TMEM63C ENST00000298351 human ensembl 74_37 +1 known missense c.1183 p.I395V 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 tier1 - - 142 0 0.00 60 41 40.59 TMEM67 0 genome.wustl.edu 37 8 94828723 94828723 + RNA DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 94828723 94828723 A - DEL TMEM67 ENST00000463467 human ensembl 74_37 +1 putative rna NULL NULL 0.614 - - - no_errors TMEM67 HGNC ENSG00000164953 tier1 43 0 0.00 41 11 21.15 TNK2 0 genome.wustl.edu 37 3 195594416 195594416 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 195594416 195594416 G A SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.2942 p.A981V 0.861 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 tier1 - - 8 0 0.00 4 7 63.64 TNPO3 0 genome.wustl.edu 37 7 128610258 128610259 + Frame_Shift_Ins INS - - G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 128610258 128610259 - G INS TNPO3 ENST00000393245 human ensembl 74_37 -1 known frame_shift_ins c.2644_2643 p.Y881fs 1.000:0.805 NULL pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 tier1 152 0 0.00 116 36 23.68 TNRC6B 0 genome.wustl.edu 37 22 40660882 40660882 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 40660882 40660882 C T SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known silent c.648 p.T216 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 tier1 - - 108 0 0.00 81 25 23.58 TONSL 0 genome.wustl.edu 37 8 145663906 145663906 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 145663906 145663906 T C SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.1601 p.H534R 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 tier1 - - 31 0 0.00 62 9 12.50 TOPBP1 0 genome.wustl.edu 37 3 133329880 133329880 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 133329880 133329880 T - DEL TOPBP1 ENST00000260810 human ensembl 74_37 -1 known frame_shift_del c.4141 p.I1381fs 0.605 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 tier1 168 0 0.00 121 43 26.22 TPR 0 genome.wustl.edu 37 1 186340109 186340109 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 186340109 186340109 G A SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.323 p.A108V 0.569 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 tier1 - - 183 0 0.00 140 51 26.42 TPX2 0 genome.wustl.edu 37 20 30370128 30370128 + Silent SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 30370128 30370128 T C SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known silent c.1239 p.R413 0.000 pfam_TPX2_central_dom pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 tier1 - - 106 0 0.00 78 35 30.97 TRAF3 0 genome.wustl.edu 37 14 103371998 103371998 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 103371998 103371998 G A SNP TRAF3 ENST00000392745 human ensembl 74_37 +1 known missense c.1584 p.M528I 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 tier1 - - 128 0 0.00 75 41 35.34 TREX1 0 genome.wustl.edu 37 3 48508122 48508122 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 48508122 48508122 G A SNP TREX1 ENST00000422277 human ensembl 74_37 +1 known missense c.233 p.G78D 1.000 superfamily_RNaseH-like_dom,smart_Exonuclease superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors TREX1 HGNC ENSG00000213689 tier1 - - 142 0 0.00 112 33 22.76 TRIM3 0 genome.wustl.edu 37 11 6472535 6472536 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 6472535 6472536 - A INS TRIM3 ENST00000345851 human ensembl 74_37 -1 known frame_shift_ins c.1667_1666 p.W556fs 1.000:1.000 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 tier1 77 0 0.00 52 22 29.73 TRIM46 0 genome.wustl.edu 37 1 155152179 155152179 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 155152179 155152179 C - DEL TRIM46 ENST00000334634 human ensembl 74_37 +1 known frame_shift_del c.1357 p.H455fs 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 tier1 24 0 0.00 22 11 33.33 TRIM49C 0 genome.wustl.edu 37 11 89768511 89768511 + Missense_Mutation SNP A A T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 89768511 89768511 A T SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.132 p.Q44H 0.331 smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 tier1 - - 49 0 0.00 25 26 50.98 TRIM60 0 genome.wustl.edu 37 4 165962194 165962194 + Nonsense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 165962194 165962194 C T SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known nonsense c.970 p.R324* 0.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 tier1 - - 114 0 0.00 66 39 36.79 TRPS1 0 genome.wustl.edu 37 8 116617077 116617077 + Missense_Mutation SNP G G C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 116617077 116617077 G C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.1119 p.N373K 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 74 0 0.00 79 21 21.00 TSHZ2 0 genome.wustl.edu 37 20 51871054 51871054 + Nonsense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 51871054 51871054 C T SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known nonsense c.1057 p.Q353* 0.937 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 tier1 - - 87 0 0.00 65 22 25.29 TSR2 0 genome.wustl.edu 37 X 54470916 54470916 + Missense_Mutation SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 54470916 54470916 A G SNP TSR2 ENST00000375151 human ensembl 74_37 +1 known missense c.509 p.D170G 0.000 NULL pfam_Pre-rRNA_process_TSR2 - no_errors TSR2 HGNC ENSG00000158526 tier1 - - 41 0 0.00 25 17 40.48 TTC13 0 genome.wustl.edu 37 1 231096989 231096989 + Missense_Mutation SNP T T A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 231096989 231096989 T A SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.332 p.D111V 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 tier1 - - 28 0 0.00 17 9 34.62 TTC29 0 genome.wustl.edu 37 4 147628705 147628705 + Splice_Site SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 4 147628705 147628705 T C SNP TTC29 ENST00000398886 human ensembl 74_37 -1 known splice_site c.1409-2 e11-2 0.078 - - - no_errors TTC29 HGNC ENSG00000137473 tier1 - - 26 0 0.00 26 14 34.15 TTC40 0 genome.wustl.edu 37 10 134660515 134660515 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 134660515 134660515 G A SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.671 p.A224V 0.001 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 14 0 0.00 8 7 46.67 TTC7B 0 genome.wustl.edu 37 14 91077134 91077134 + Nonsense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 91077134 91077134 G A SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known nonsense c.1918 p.R640* 1.000 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 tier1 - - 239 0 0.00 121 62 33.70 TTC9 0 genome.wustl.edu 37 14 71109123 71109123 + Frame_Shift_Del DEL C C - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 71109123 71109123 C - DEL TTC9 ENST00000256367 human ensembl 74_37 +1 known frame_shift_del c.277 p.E96fs 0.005 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC9 HGNC ENSG00000133985 tier1 12 0 0.00 13 6 31.58 TTC9C 0 genome.wustl.edu 37 11 62502997 62502997 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 11 62502997 62502997 C T SNP TTC9C ENST00000316461 human ensembl 74_37 +1 known missense c.382 p.R128C 0.954 pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC9C HGNC ENSG00000162222 tier1 - - 51 0 0.00 27 19 41.30 TTN 0 genome.wustl.edu 37 2 179413255 179413255 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 179413255 179413255 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.85394 p.A28465V 0.778 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - - 212 0 0.00 133 55 29.26 TTN 0 genome.wustl.edu 37 2 179566920 179566920 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 179566920 179566920 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.26754 p.T8918 0.029 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 61 0 0.00 48 6 11.11 TUBB3 0 genome.wustl.edu 37 16 90001516 90001516 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 90001516 90001516 G A SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known silent c.657 p.T219 0.980 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 tier1 - - 83 0 0.00 60 38 38.78 TVP23A 0 genome.wustl.edu 37 16 10912385 10912385 + RNA DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 10912385 10912385 G - DEL TVP23A ENST00000570692 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TVP23A HGNC ENSG00000166676 tier1 18 0 0.00 23 6 20.69 TYW5 0 genome.wustl.edu 37 2 200820114 200820114 + Splice_Site SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 200820114 200820114 A G SNP TYW5 ENST00000354611 human ensembl 74_37 -1 known splice_site c.78+2 e1+2 1.000 - - - no_errors TYW5 HGNC ENSG00000162971 tier1 - - 22 0 0.00 8 5 38.46 U2AF1 0 genome.wustl.edu 37 21 44514593 44514593 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 21 44514593 44514593 C T SNP U2AF1 ENST00000291552 human ensembl 74_37 -1 known missense c.563 p.R188H 1.000 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC ENSG00000160201 tier1 - - 54 0 0.00 38 8 17.39 UAP1L1 0 genome.wustl.edu 37 9 139973491 139973491 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 9 139973491 139973491 G - DEL UAP1L1 ENST00000409858 human ensembl 74_37 +1 known frame_shift_del c.734 p.G246fs 0.998 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 tier1 65 0 0.00 33 16 32.65 UBE2N 0 genome.wustl.edu 37 12 93805030 93805030 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 12 93805030 93805030 C T SNP UBE2N ENST00000318066 human ensembl 74_37 -1 known missense c.76 p.E26K 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2N HGNC ENSG00000177889 tier1 - - 103 0 0.00 74 49 39.84 UBN2 0 genome.wustl.edu 37 7 138978663 138978663 + Silent SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 138978663 138978663 A C SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known silent c.3930 p.G1310 1.000 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 tier1 - - 70 0 0.00 41 29 41.43 UBR5 0 genome.wustl.edu 37 8 103297968 103297968 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 103297968 103297968 G A SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.5257 p.R1753C 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 tier1 - - 89 0 0.00 96 27 21.95 UPB1 0 genome.wustl.edu 37 22 24909359 24909359 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 22 24909359 24909359 T - DEL UPB1 ENST00000326010 human ensembl 74_37 +1 known frame_shift_del c.527 p.L177fs 0.002 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors UPB1 HGNC ENSG00000100024 tier1 53 0 0.00 46 16 25.81 UPF2 0 genome.wustl.edu 37 10 12077223 12077223 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 12077223 12077223 T - DEL UPF2 ENST00000356352 human ensembl 74_37 -1 known frame_shift_del c.200 p.K67fs 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 tier1 151 0 0.00 87 42 32.56 UQCRFS1 0 genome.wustl.edu 37 19 29699002 29699002 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 29699002 29699002 C T SNP UQCRFS1 ENST00000304863 human ensembl 74_37 -1 known missense c.278 p.R93H 0.917 pfam_Ubiquinol_cyt_Rdtase_TM pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC ENSG00000169021 tier1 rs148167893 - 92 0 0.00 92 9 8.91 URI1 0 genome.wustl.edu 37 19 30502026 30502026 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 30502026 30502026 C T SNP URI1 ENST00000542441 human ensembl 74_37 +1 known missense c.1061 p.T354I 1.000 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 tier1 - - 126 0 0.00 85 43 33.59 USH2A 0 genome.wustl.edu 37 1 216591920 216591920 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 216591920 216591920 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.587 p.P196L 1.000 superfamily_ConA-like_lec_gl_sf,smart_LamG-like pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 144 0 0.00 64 32 33.33 USP26 0 genome.wustl.edu 37 X 132161205 132161205 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 132161205 132161205 A - DEL USP26 ENST00000370832 human ensembl 74_37 -1 known frame_shift_del c.1044 p.F348fs 0.541 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 tier1 105 0 0.00 79 27 25.47 USP39 0 genome.wustl.edu 37 2 85852780 85852780 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 85852780 85852780 T C SNP USP39 ENST00000409470 human ensembl 74_37 +1 known missense c.689 p.I230T 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP39 HGNC ENSG00000168883 tier1 - - 80 0 0.00 46 26 36.11 USP40 0 genome.wustl.edu 37 2 234407253 234407253 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 234407253 234407253 C T SNP USP40 ENST00000450966 human ensembl 74_37 -1 known missense c.2689 p.A897T 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 tier1 - - 26 0 0.00 40 14 25.93 VIM 0 genome.wustl.edu 37 10 17271775 17271775 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 17271775 17271775 C T SNP VIM ENST00000224237 human ensembl 74_37 +1 known silent c.354 p.I118 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 tier1 - - 9 0 0.00 9 5 35.71 VPS45 0 genome.wustl.edu 37 1 150082513 150082514 + RNA INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 150082513 150082514 - A INS VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.965:0.965 - - - no_errors VPS45 HGNC ENSG00000136631 tier1 16 0 0.00 10 3 23.08 WASL 0 genome.wustl.edu 37 7 123388769 123388769 + Missense_Mutation SNP T T G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 123388769 123388769 T G SNP WASL ENST00000223023 human ensembl 74_37 -1 known missense c.20 p.Q7P 0.996 NULL pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 tier1 - - 16 0 0.00 10 6 37.50 WDPCP 0 genome.wustl.edu 37 2 63540414 63540414 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 63540414 63540414 G A SNP WDPCP ENST00000272321 human ensembl 74_37 -1 known missense c.1781 p.A594V 1.000 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 tier1 - - 42 0 0.00 35 12 25.53 WDR26 0 genome.wustl.edu 37 1 224586736 224586736 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 224586736 224586736 C T SNP WDR26 ENST00000414423 human ensembl 74_37 -1 known missense c.1420 p.D474N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR26 HGNC ENSG00000162923 tier1 - - 63 0 0.00 49 13 20.97 WDR35 0 genome.wustl.edu 37 2 20146231 20146231 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 20146231 20146231 C T SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known missense c.1658 p.C553Y 1.000 superfamily_WD40_repeat_dom,pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 tier1 - - 95 0 0.00 75 7 8.54 WEE2 0 genome.wustl.edu 37 7 141408842 141408842 + Missense_Mutation SNP C C A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 141408842 141408842 C A SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known missense c.284 p.P95Q 0.139 pirsf_Wee1-like_protein_kinase 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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE2 HGNC ENSG00000214102 tier1 - - 151 0 0.00 87 30 25.64 WRAP73 0 genome.wustl.edu 37 1 3551750 3551750 + Frame_Shift_Del DEL G G - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 3551750 3551750 G - DEL WRAP73 ENST00000270708 human ensembl 74_37 -1 known frame_shift_del c.712 p.L238fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WRAP73 HGNC ENSG00000116213 tier1 60 0 0.00 32 19 37.25 XAF1 0 genome.wustl.edu 37 17 6674068 6674068 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 17 6674068 6674068 C T SNP XAF1 ENST00000361842 human ensembl 74_37 +1 known missense c.614 p.T205M 0.000 NULL superfamily_TRAF-like,pfscan_Znf_TRAF - no_errors XAF1 HGNC ENSG00000132530 tier1 - - 75 0 0.00 47 22 31.88 XDH 0 genome.wustl.edu 37 2 31572658 31572658 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 31572658 31572658 G A SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.2863 p.H955Y 0.998 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 tier1 - - 80 0 0.00 40 39 49.37 XIAP 0 genome.wustl.edu 37 X 123026609 123026609 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 123026609 123026609 T C SNP XIAP ENST00000355640 human ensembl 74_37 +1 known missense c.1085 p.L362P 0.324 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors XIAP HGNC ENSG00000101966 tier1 - - 224 0 0.00 144 54 27.14 XIRP2 0 genome.wustl.edu 37 2 168099557 168099557 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 2 168099557 168099557 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.1655 p.S552N 0.937 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 64 0 0.00 19 11 35.48 YY1 0 genome.wustl.edu 37 14 100728643 100728644 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 100728643 100728644 - A INS YY1 ENST00000262238 human ensembl 74_37 +1 known frame_shift_ins c.682_683 p.D231fs 1.000:1.000 pirsf_TF_Yin_yang pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 tier1 74 0 0.00 47 19 28.79 ZBTB1 0 genome.wustl.edu 37 14 64988813 64988813 + Silent SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 14 64988813 64988813 C T SNP ZBTB1 ENST00000394712 human ensembl 74_37 +1 known silent c.591 p.S197 0.130 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 tier1 - - 82 0 0.00 60 29 32.22 ZBTB21 0 genome.wustl.edu 37 21 43413803 43413803 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 21 43413803 43413803 T - DEL ZBTB21 ENST00000310826 human ensembl 74_37 -1 known frame_shift_del c.402 p.V135fs 0.002 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 tier1 129 0 0.00 69 16 18.82 ZBTB46 0 genome.wustl.edu 37 20 62407296 62407296 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 62407296 62407296 G A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known silent c.957 p.T319 0.002 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 tier1 - - 34 0 0.00 34 11 24.44 ZC3H13 0 genome.wustl.edu 37 13 46577381 46577381 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 13 46577381 46577381 T - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.837 p.K279fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 tier1 80 0 0.00 61 12 16.44 ZCCHC11 0 genome.wustl.edu 37 1 52991928 52991928 + Frame_Shift_Del DEL T T - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 52991928 52991928 T - DEL ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known frame_shift_del c.25 p.S9fs 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 tier1 45 0 0.00 34 13 27.66 ZFAT 0 genome.wustl.edu 37 8 135621038 135621038 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 135621038 135621038 G T SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.719 p.P240H 0.320 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 - - 75 0 0.00 92 32 25.81 ZFAT-AS1 0 genome.wustl.edu 37 8 135612914 135612914 + RNA DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 8 135612914 135612914 A - DEL ZFAT-AS1 ENST00000505776 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZFAT-AS1 HGNC ENSG00000248492 tier1 28 0 0.00 38 8 17.39 ZFX 0 genome.wustl.edu 37 X 24197707 24197707 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 24197707 24197707 G A SNP ZFX ENST00000540034 human ensembl 74_37 +1 known missense c.583 p.V195M 0.996 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 tier1 - - 203 0 0.00 133 60 31.09 ZNF208 0 genome.wustl.edu 37 19 22155549 22155549 + Missense_Mutation SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 22155549 22155549 T C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2287 p.T763A 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 59 0 0.00 47 11 18.97 ZNF319 0 genome.wustl.edu 37 16 58031334 58031334 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 16 58031334 58031334 G A SNP ZNF319 ENST00000299237 human ensembl 74_37 -1 known missense c.836 p.A279V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 tier1 - - 59 0 0.00 47 13 21.67 ZNF326 0 genome.wustl.edu 37 1 90478763 90478763 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 1 90478763 90478763 A - DEL ZNF326 ENST00000340281 human ensembl 74_37 +1 known frame_shift_del c.893 p.N300fs 1.000 NULL pfam_AKAP95 - no_errors ZNF326 HGNC ENSG00000162664 tier1 38 0 0.00 30 14 31.82 ZNF337 0 genome.wustl.edu 37 20 25657029 25657029 + Nonsense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 20 25657029 25657029 G A SNP ZNF337 ENST00000252979 human ensembl 74_37 -1 known nonsense c.895 p.R299* 0.208 pfam_Znf_C2H2,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 ZNF337 HGNC ENSG00000130684 tier1 - - 206 0 0.00 185 19 9.27 ZNF445 0 genome.wustl.edu 37 3 44497033 44497033 + Silent SNP T T C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 3 44497033 44497033 T C SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known silent c.9 p.P3 1.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 tier1 - - 54 0 0.00 33 15 31.25 ZNF518A 0 genome.wustl.edu 37 10 97920553 97920553 + RNA SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 10 97920553 97920553 A C SNP ZNF518A ENST00000534948 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors ZNF518A HGNC ENSG00000177853 tier1 - - 12 0 0.00 6 4 40.00 ZNF565 0 genome.wustl.edu 37 19 36673884 36673884 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 36673884 36673884 G A SNP ZNF565 ENST00000304116 human ensembl 74_37 -1 known silent c.984 p.I328 0.308 pfam_Znf_C2H2,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 ZNF565 HGNC ENSG00000196357 tier1 - - 48 0 0.00 38 27 41.54 ZNF568 0 genome.wustl.edu 37 19 37441513 37441513 + Missense_Mutation SNP G G T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 37441513 37441513 G T SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.1458 p.M486I 0.489 pfam_Znf_C2H2,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 ZNF568 HGNC ENSG00000198453 tier1 - - 73 0 0.00 56 27 32.53 ZNF57 0 genome.wustl.edu 37 19 2917858 2917858 + Silent SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 2917858 2917858 G A SNP ZNF57 ENST00000306908 human ensembl 74_37 +1 known silent c.1239 p.T413 0.013 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 ZNF57 HGNC ENSG00000171970 tier1 - - 95 0 0.00 56 23 29.11 ZNF609 0 genome.wustl.edu 37 15 64966372 64966372 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 64966372 64966372 G A SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.1319 p.R440Q 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 tier1 - - 87 0 0.00 46 31 40.26 ZNF609 0 genome.wustl.edu 37 15 64966970 64966970 + Missense_Mutation SNP A A C TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 15 64966970 64966970 A C SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.1917 p.K639N 0.029 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 tier1 - - 56 0 0.00 49 21 30.00 ZNF616 0 genome.wustl.edu 37 19 52619205 52619205 + Silent SNP A A G TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 52619205 52619205 A G SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known silent c.1212 p.T404 0.976 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 ZNF616 HGNC ENSG00000204611 tier1 - - 292 0 0.00 170 81 32.27 ZNF711 0 genome.wustl.edu 37 X 84525714 84525715 + Frame_Shift_Ins INS - - A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d X 84525714 84525715 - A INS ZNF711 ENST00000395402 human ensembl 74_37 +1 known frame_shift_ins c.1190_1191 p.F400fs 1.000:0.997 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 tier1 36 0 0.00 27 15 35.71 ZNF776 0 genome.wustl.edu 37 19 58264857 58264857 + Frame_Shift_Del DEL A A - TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 58264857 58264857 A - DEL ZNF776 ENST00000317178 human ensembl 74_37 +1 known frame_shift_del c.359 p.K122fs 0.001 NULL 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 ZNF776 HGNC ENSG00000152443 tier1 60 0 0.00 39 8 17.02 ZNF777 0 genome.wustl.edu 37 7 149129037 149129037 + Missense_Mutation SNP G G A TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 7 149129037 149129037 G A SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known missense c.2326 p.R776W 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 tier1 - - 84 0 0.00 42 31 42.47 ZNF792 0 genome.wustl.edu 37 19 35449059 35449059 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 35449059 35449059 C T SNP ZNF792 ENST00000404801 human ensembl 74_37 -1 known missense c.1700 p.C567Y 0.999 pfam_Znf_C2H2,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 ZNF792 HGNC ENSG00000180884 tier1 - - 41 0 0.00 23 6 20.69 ZSCAN1 0 genome.wustl.edu 37 19 58565040 58565040 + Missense_Mutation SNP C C T TCGA-SW-A7EA-01A-12D-A34U-08 TCGA-SW-A7EA-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 205c962b-96d0-4749-b98d-008e6682bd85 8a7fd11e-d477-4b6e-a23f-e872bce8207d 19 58565040 58565040 C T SNP ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known missense c.848 p.P283L 0.004 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 tier1 - - 37 0 0.00 21 24 53.33