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 AACS 0 genome.wustl.edu 37 12 125613984 125613984 + Missense_Mutation SNP G G C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 125613984 125613984 G C SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.1527 p.K509N 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 tier1 - - 121 0 0.00 18 66 78.57 ABCA10 0 genome.wustl.edu 37 17 67218024 67218024 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 67218024 67218024 G A SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.212 p.A71V 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 tier1 - - 23 0 0.00 40 29 42.03 ABCA13 0 genome.wustl.edu 37 7 48278946 48278946 + Missense_Mutation SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 48278946 48278946 T G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.1006 p.S336A 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 tier1 - - 39 0 0.00 36 30 45.45 ABCA7 0 genome.wustl.edu 37 19 1061782 1061782 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 1061782 1061782 G T SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.5465 p.C1822F 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 tier1 - - 95 0 0.00 66 4 5.71 ABCB5 0 genome.wustl.edu 37 7 20766683 20766683 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 20766683 20766683 G A SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known silent c.1311 p.E437 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 tier1 - - 23 0 0.00 71 18 20.22 ABL1 0 genome.wustl.edu 37 9 133760107 133760107 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 133760107 133760107 G A SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known silent c.2487 p.P829 0.011 NULL pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,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 ABL1 HGNC ENSG00000097007 tier1 - - 30 0 0.00 19 15 44.12 ACIN1 0 genome.wustl.edu 37 14 23548783 23548783 + Silent SNP A A T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 14 23548783 23548783 A T SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known silent c.1935 p.S645 0.508 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 30 0 0.00 55 8 12.70 ACIN1 0 genome.wustl.edu 37 14 23549875 23549875 + Missense_Mutation SNP T T A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 14 23549875 23549875 T A SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.843 p.E281D 0.224 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 19 0 0.00 36 6 14.29 ACTR3C 0 genome.wustl.edu 37 7 149990455 149990455 + Silent SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 149990455 149990455 T C SNP ACTR3C ENST00000252071 human ensembl 74_37 -1 known silent c.99 p.T33 0.988 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3C HGNC ENSG00000106526 68 0 0.00 53 4 7.02 ADAD2 0 genome.wustl.edu 37 16 84228731 84228731 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 16 84228731 84228731 C T SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known missense c.880 p.L294F 0.982 smart_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 - - 103 0 0.00 59 4 6.35 ADAM19 0 genome.wustl.edu 37 5 156924017 156924017 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 156924017 156924017 G T SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.1485 p.H495Q 0.897 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin 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,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 tier1 - - 60 0 0.00 61 4 6.15 ADCK3 0 genome.wustl.edu 37 1 227171737 227171737 + RNA SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 227171737 227171737 G T SNP ADCK3 ENST00000478406 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ADCK3 HGNC ENSG00000163050 tier1 rs1574184 - 45 0 0.00 32 22 40.74 ADCY3 0 genome.wustl.edu 37 2 25141535 25141535 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 25141535 25141535 G T SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.322 p.L108I 0.007 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 tier1 - - 83 0 0.00 73 4 5.19 ADCY8 0 genome.wustl.edu 37 8 131922079 131922079 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 8 131922079 131922079 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.1515 p.D505 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 50 0 0.00 42 28 40.00 ADD2 0 genome.wustl.edu 37 2 70890714 70890714 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 70890714 70890714 G A SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.2024 p.T675M 0.997 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 tier1 - - 38 0 0.00 35 38 52.05 AKAP6 0 genome.wustl.edu 37 14 33293331 33293331 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 14 33293331 33293331 G A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known silent c.6312 p.L2104 0.988 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 25 0 0.00 25 7 21.88 AKR7A2 0 genome.wustl.edu 37 1 19633579 19633579 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 19633579 19633579 G T SNP AKR7A2 ENST00000235835 human ensembl 74_37 -1 known silent c.705 p.G235 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A2 HGNC ENSG00000053371 83 0 0.00 72 4 5.26 ALPK2 0 genome.wustl.edu 37 18 56184191 56184191 + Silent SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 18 56184191 56184191 C A SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known silent c.5889 p.G1963 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 57 0 0.00 71 4 5.33 AMACR 0 genome.wustl.edu 37 5 33988375 33988375 + RNA SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 33988375 33988375 G T SNP AMACR ENST00000514195 human ensembl 74_37 -1 putative rna NULL NULL 0.223 - - - no_errors AMACR HGNC ENSG00000242110 29 0 0.00 94 5 5.05 AMPH 0 genome.wustl.edu 37 7 38468129 38468129 + RNA SNP T T A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 38468129 38468129 T A SNP AMPH ENST00000471913 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors AMPH HGNC ENSG00000078053 tier1 - - 27 0 0.00 67 20 22.99 ANKS1A 0 genome.wustl.edu 37 6 34949729 34949729 + Missense_Mutation SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 34949729 34949729 T C SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known missense c.698 p.V233A 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 36 0 0.00 60 4 6.25 AOAH 0 genome.wustl.edu 37 7 36552785 36552785 + Nonsense_Mutation SNP A A T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 36552785 36552785 A T SNP AOAH ENST00000431169 human ensembl 74_37 -1 putative nonsense c.1920 p.Y640* 0.000 NULL pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 tier1 - - 47 0 0.00 27 67 71.28 AOC4P 0 genome.wustl.edu 37 17 41025454 41025454 + RNA SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 41025454 41025454 G T SNP AOC4P ENST00000563852 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AOC4P HGNC ENSG00000260105 tier1 - - 27 0 0.00 48 4 7.69 AP4E1 0 genome.wustl.edu 37 15 51285652 51285652 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 51285652 51285652 G T SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known nonsense c.2176 p.E726* 0.026 pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 23 0 0.00 63 4 5.97 APC 0 genome.wustl.edu 37 5 112151228 112151229 + Frame_Shift_Ins INS - - T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 112151228 112151229 - T INS APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_ins c.871_872 p.L292fs 1.000:1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 50 0 0.00 25 29 53.70 ARAP2 0 genome.wustl.edu 37 4 36179500 36179500 + Missense_Mutation SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 36179500 36179500 T G SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.1806 p.K602N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 12 0 0.00 20 9 31.03 ARHGAP10 0 genome.wustl.edu 37 4 148968114 148968114 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 148968114 148968114 G T SNP ARHGAP10 ENST00000336498 human ensembl 74_37 +1 known missense c.1939 p.V647L 0.654 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP10 HGNC ENSG00000071205 44 0 0.00 42 3 6.67 ARHGAP31 0 genome.wustl.edu 37 3 119132712 119132712 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 119132712 119132712 G A SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.1936 p.D646N 0.999 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 tier1 - - 30 0 0.00 38 27 41.54 ARHGEF10 0 genome.wustl.edu 37 8 1846630 1846630 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 8 1846630 1846630 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.1664 p.T555M 0.991 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 tier1 - - 90 0 0.00 9 39 81.25 ARHGEF4 0 genome.wustl.edu 37 2 131798851 131798851 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 131798851 131798851 G T SNP ARHGEF4 ENST00000326016 human ensembl 74_37 +1 known missense c.1153 p.A385S 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-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 38 0 0.00 27 2 6.90 ARID1A 0 genome.wustl.edu 37 1 27099397 27099397 + Nonsense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 27099397 27099397 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.3634 p.Q1212* 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 21 0 0.00 25 2 7.41 ARSA 0 genome.wustl.edu 37 22 51065261 51065261 + Splice_Site SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 22 51065261 51065261 C T SNP ARSA ENST00000216124 human ensembl 74_37 -1 known splice_site c.684+1 e3+1 1.000 - - - no_errors ARSA HGNC ENSG00000100299 tier1 rs146371968 - 40 0 0.00 4 22 84.62 ARSD 0 genome.wustl.edu 37 X 2838661 2838661 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 X 2838661 2838661 G T SNP ARSD ENST00000381154 human ensembl 74_37 -1 known silent c.420 p.G140 0.964 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 16 0 0.00 41 4 8.89 ATF7 0 genome.wustl.edu 37 12 53926321 53926321 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 53926321 53926321 G T SNP ATF7 ENST00000328463 human ensembl 74_37 -1 known silent c.780 p.G260 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_Znf_C2H2-like,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors ATF7 HGNC ENSG00000170653 62 0 0.00 56 4 6.67 ATG13 0 genome.wustl.edu 37 11 46690365 46690365 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 46690365 46690365 G T SNP ATG13 ENST00000312040 human ensembl 74_37 +1 known nonsense c.1252 p.E418* 0.025 NULL pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 43 0 0.00 66 4 5.71 ATP10A 0 genome.wustl.edu 37 15 25953235 25953235 + Missense_Mutation SNP T T A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 25953235 25953235 T A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2463 p.E821D 0.300 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp 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 ATP10A HGNC ENSG00000206190 tier1 - - 23 0 0.00 10 14 58.33 ATP11C 0 genome.wustl.edu 37 X 138865369 138865369 + Missense_Mutation SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 X 138865369 138865369 T C SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known missense c.1733 p.N578S 0.233 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 tier1 - - 29 0 0.00 6 33 84.62 ATP2B1 0 genome.wustl.edu 37 12 90015477 90015477 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 90015477 90015477 G A SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.1436 p.T479I 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,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 ATP2B1 HGNC ENSG00000070961 tier1 - - 17 0 0.00 8 17 65.38 ATP8B5P 0 genome.wustl.edu 37 9 35450410 35450411 + RNA INS - - T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 35450410 35450411 0 T INS ATP8B5P ENST00000430846 human ensembl 74_37 +1 known rna NULL NULL 0.876:0.812 - - - no_errors ATP8B5P HGNC ENSG00000179766 58 0 0.00 103 9 8.04 ATRX 0 genome.wustl.edu 37 X 76763679 76763680 + RNA INS - - A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 X 76763679 76763680 - A INS ATRX ENST00000480283 human ensembl 74_37 -1 known rna NULL NULL 0.018:0.003 - - - no_errors ATRX HGNC ENSG00000085224 tier1 13 0 0.00 35 7 16.67 BMP4 0 genome.wustl.edu 37 14 54423342 54423342 + RNA SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 14 54423342 54423342 G A SNP BMP4 ENST00000558489 human ensembl 74_37 -1 putative rna NULL NULL 0.997 - - - no_errors BMP4 HGNC ENSG00000125378 tier1 - - 89 0 0.00 62 4 6.06 BNC2 0 genome.wustl.edu 37 9 16436858 16436858 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 16436858 16436858 G T SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.1334 p.A445E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 23 0 0.00 51 3 5.56 BOC 0 genome.wustl.edu 37 3 112996962 112996962 + Silent SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 112996962 112996962 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known silent c.1563 p.D521 0.000 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 BOC HGNC ENSG00000144857 tier1 - - 45 0 0.00 27 14 34.15 C16orf82 0 genome.wustl.edu 37 16 27080038 27080038 + RNA DEL T T - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 16 27080038 27080038 T - DEL C16orf82 ENST00000418886 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C16orf82 HGNC ENSG00000234186 tier1 27 0 0.00 23 4 14.81 C1orf173 0 genome.wustl.edu 37 1 75038176 75038176 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 75038176 75038176 G T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.3218 p.T1073N 0.038 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 33 0 0.00 62 4 6.06 CA4 0 genome.wustl.edu 37 17 58234883 58234883 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 58234883 58234883 C T SNP CA4 ENST00000300900 human ensembl 74_37 +1 known missense c.364 p.P122S 0.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA4 HGNC ENSG00000167434 tier1 - - 36 0 0.00 50 4 7.41 CADPS 0 genome.wustl.edu 37 3 62388814 62388814 + Missense_Mutation SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 62388814 62388814 T C SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.3824 p.D1275G 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 tier1 - - 44 0 0.00 86 6 6.52 CADPS 0 genome.wustl.edu 37 3 62570860 62570860 + Missense_Mutation SNP C C G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 62570860 62570860 C G SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.1577 p.G526A 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 tier1 - - 43 0 0.00 55 25 31.25 CAPRIN2 0 genome.wustl.edu 37 12 30876222 30876222 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 30876222 30876222 G T SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known missense c.2014 p.Q672K 0.999 pfam_Caprin-1_C pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 tier1 rs79465544 - 49 0 0.00 58 4 6.45 CCDC144A 0 genome.wustl.edu 37 17 16593966 16593966 + Silent SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 16593966 16593966 C A SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known silent c.252 p.L84 0.016 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 tier1 - - 88 0 0.00 9 40 81.63 CD1D 0 genome.wustl.edu 37 1 158152065 158152065 + Missense_Mutation SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 158152065 158152065 T G SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.572 p.L191R 0.007 superfamily_MHC_I/II-like_Ag-recog,pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 tier1 - - 62 0 0.00 36 27 42.86 CD5L 0 genome.wustl.edu 37 1 157804258 157804258 + Silent SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 157804258 157804258 A C SNP CD5L ENST00000368174 human ensembl 74_37 -1 known silent c.657 p.P219 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 tier1 - - 14 0 0.00 18 8 30.77 CDC27 0 genome.wustl.edu 37 17 45214617 45214617 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 45214617 45214617 G T SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.1832 p.T611N 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 tier1 - - 37 0 0.00 87 7 7.45 CDH8 0 genome.wustl.edu 37 16 61689518 61689518 + Missense_Mutation SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 16 61689518 61689518 T G SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.1762 p.S588R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 39 0 0.00 29 8 21.62 CDHR1 0 genome.wustl.edu 37 10 85971434 85971434 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 10 85971434 85971434 G T SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known nonsense c.1516 p.E506* 0.812 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 50 0 0.00 73 4 5.19 CDK5RAP2 0 genome.wustl.edu 37 9 123223027 123223027 + Splice_Site DEL T T - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 123223027 123223027 T - DEL CDK5RAP2 ENST00000480112 human ensembl 74_37 -1 known splice_site_del c.2104-2 e19-2 0.979 - - - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 19 0 0.00 44 5 10.20 CEACAM18 0 genome.wustl.edu 37 19 51986386 51986386 + Silent SNP C C G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 51986386 51986386 C G SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known silent c.972 p.L324 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 tier1 - - 68 0 0.00 4 50 92.59 CER1 0 genome.wustl.edu 37 9 14722203 14722203 + Missense_Mutation SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 14722203 14722203 T G SNP CER1 ENST00000380911 human ensembl 74_37 -1 known missense c.468 p.E156D 1.000 pfam_DAN,pirsf_Cerberus pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C - no_errors CER1 HGNC ENSG00000147869 tier1 - - 45 0 0.00 36 24 40.00 CHRNB2 0 genome.wustl.edu 37 1 154542074 154542074 + Silent SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 154542074 154542074 C A SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known silent c.201 p.L67 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,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 CHRNB2 HGNC ENSG00000160716 tier1 - - 66 0 0.00 64 30 31.91 CHRNB4 0 genome.wustl.edu 37 15 78917609 78917609 + Nonsense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 78917609 78917609 C T SNP CHRNB4 ENST00000412074 human ensembl 74_37 -1 putative nonsense c.384 p.W128* 1.000 NULL pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 tier1 - - 33 0 0.00 62 4 6.06 CLK2 0 genome.wustl.edu 37 1 155232982 155232982 + RNA SNP G G C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 155232982 155232982 G C SNP CLK2 ENST00000476983 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CLK2 HGNC ENSG00000176444 tier1 - - 38 0 0.00 35 28 44.44 CLUH 0 genome.wustl.edu 37 17 2598212 2598212 + Frame_Shift_Del DEL G G - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 2598212 2598212 G - DEL CLUH ENST00000435359 human ensembl 74_37 -1 known frame_shift_del c.2674 p.Q892fs 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 tier1 66 0 0.00 49 3 5.77 CNTN3 0 genome.wustl.edu 37 3 74385746 74385746 + Silent SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 74385746 74385746 A C SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.1428 p.T476 0.046 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,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 CNTN3 HGNC ENSG00000113805 tier1 - - 25 0 0.00 17 19 52.78 COL12A1 0 genome.wustl.edu 37 6 75804854 75804854 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 75804854 75804854 C A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.8619 p.K2873N 1.000 pfam_Collagen pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 36 0 0.00 6 32 84.21 COL4A5 0 genome.wustl.edu 37 X 107920802 107920802 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 X 107920802 107920802 G T SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.3881 p.G1294V 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 tier1 - - 28 0 0.00 44 4 8.33 COL5A1 0 genome.wustl.edu 37 9 137687132 137687132 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 137687132 137687132 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.2770 p.R924W 0.985 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 73 0 0.00 29 38 55.88 COQ5 0 genome.wustl.edu 37 12 120966890 120966890 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 120966890 120966890 G T SNP COQ5 ENST00000288532 human ensembl 74_37 -1 known silent c.55 p.R19 0.001 NULL pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase - no_errors COQ5 HGNC ENSG00000110871 35 0 0.00 62 4 5.97 CPNE8 0 genome.wustl.edu 37 12 39047739 39047739 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 39047739 39047739 G T SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known nonsense c.1640 p.S547* 0.001 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 tier1 - - 32 0 0.00 30 4 11.76 CSMD2 0 genome.wustl.edu 37 1 34066493 34066493 + Silent SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 34066493 34066493 T C SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.6828 p.T2276 0.001 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 CSMD2 HGNC ENSG00000121904 69 0 0.00 73 4 5.19 CSNK1A1L 0 genome.wustl.edu 37 13 37678392 37678392 + Silent SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 13 37678392 37678392 C T SNP CSNK1A1L ENST00000379800 human ensembl 74_37 -1 known silent c.1002 p.V334 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,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1L HGNC ENSG00000180138 tier1 - - 29 0 0.00 78 6 7.14 CTIF 0 genome.wustl.edu 37 18 46287983 46287983 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 18 46287983 46287983 G T SNP CTIF ENST00000382998 human ensembl 74_37 +1 known missense c.1300 p.A434S 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 tier1 - - 48 0 0.00 33 4 10.81 CTTNBP2NL 0 genome.wustl.edu 37 1 112958898 112958899 + RNA INS - - A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 112958898 112958899 - A INS CTTNBP2NL ENST00000502356 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTTNBP2NL HGNC ENSG00000143079 tier1 23 0 0.00 36 5 12.20 CUBN 0 genome.wustl.edu 37 10 16932470 16932470 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 10 16932470 16932470 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.8655 p.N2885 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 66 0 0.00 51 35 40.23 CUL4B 0 genome.wustl.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 X 119694117 119694119 GAG - DEL CUL4B ENST00000404115 human ensembl 74_37 -1 known in_frame_del c.431_429 p.S146in_frame_del 0.999:1.000:1.000 NULL 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 CUL4B HGNC ENSG00000158290 tier1 21 0 0.00 28 5 15.15 CYP4F43P 0 genome.wustl.edu 37 2 131188838 131188838 + RNA SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 131188838 131188838 C T SNP CYP4F43P ENST00000455215 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CYP4F43P HGNC ENSG00000239402 tier1 - - 26 0 0.00 41 20 32.79 DEFB106B 0 genome.wustl.edu 37 8 7340204 7340204 + Silent SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 8 7340204 7340204 A G SNP DEFB106B ENST00000335479 human ensembl 74_37 -1 known silent c.120 p.N40 0.791 NULL NULL - no_errors DEFB106B HGNC ENSG00000187082 tier1 rs138253070 - 36 0 0.00 41 8 16.33 DNAH10 0 genome.wustl.edu 37 12 124403387 124403387 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 124403387 124403387 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.11043 p.E3681D 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 45 0 0.00 11 27 71.05 DNM1P46 0 genome.wustl.edu 37 15 100330953 100330953 + RNA SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 100330953 100330953 G T SNP DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors DNM1P46 HGNC ENSG00000182397 tier1 - - 26 0 0.00 34 4 10.53 DOCK1 0 genome.wustl.edu 37 10 129172366 129172366 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 10 129172366 129172366 G A SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.3500 p.G1167E 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 tier1 - - 53 0 0.00 63 36 36.00 DRD3 0 genome.wustl.edu 37 3 113878649 113878649 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 113878649 113878649 C T SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known missense c.336 p.M112I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 tier1 - - 35 0 0.00 74 19 20.43 DROSHA 0 genome.wustl.edu 37 5 31508814 31508814 + Missense_Mutation SNP C C G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 31508814 31508814 C G SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.1501 p.V501L 1.000 NULL pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 tier1 - - 70 0 0.00 126 30 19.11 DTX2 0 genome.wustl.edu 37 7 76131710 76131710 + Silent SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 76131710 76131710 C A SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known silent c.1326 p.L442 0.034 smart_Znf_RING,pfscan_Znf_RING pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 tier1 - - 112 0 0.00 72 4 5.26 DYNC1H1 0 genome.wustl.edu 37 14 102502930 102502930 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 14 102502930 102502930 G T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.10859 p.R3620I 0.996 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 49 0 0.00 57 3 5.00 DZANK1 0 genome.wustl.edu 37 20 18393405 18393405 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 20 18393405 18393405 G T SNP DZANK1 ENST00000262547 human ensembl 74_37 -1 known missense c.1317 p.F439L 1.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 68 0 0.00 75 4 5.06 ECEL1 0 genome.wustl.edu 37 2 233348784 233348784 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 233348784 233348784 G T SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.1334 p.A445D 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 83 0 0.00 93 5 5.10 EGFEM1P 0 genome.wustl.edu 37 3 168530404 168530404 + RNA SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 168530404 168530404 G T SNP EGFEM1P ENST00000482245 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EGFEM1P HGNC ENSG00000206120 tier1 - - 11 0 0.00 9 11 55.00 EML1 0 genome.wustl.edu 37 14 100380522 100380522 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 14 100380522 100380522 G T SNP EML1 ENST00000334192 human ensembl 74_37 +1 known nonsense c.1558 p.E520* 1.000 superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 tier1 - - 72 0 0.00 74 4 5.13 EMR3 0 genome.wustl.edu 37 19 14762000 14762000 + Silent SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 14762000 14762000 C A SNP EMR3 ENST00000253673 human ensembl 74_37 -1 known silent c.594 p.A198 0.366 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 22 0 0.00 38 4 9.52 ENDOU 0 genome.wustl.edu 37 12 48111404 48111404 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 48111404 48111404 G T SNP ENDOU ENST00000229003 human ensembl 74_37 -1 known silent c.156 p.R52 1.000 pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENDOU HGNC ENSG00000111405 tier1 - - 58 0 0.00 65 4 5.80 ENSG00000216166 0 genome.wustl.edu 37 3 183520323 183520324 + RNA INS - - TA TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 183520323 183520324 - TA INS ENSG00000216166 ENST00000401347 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000216166 tier1 12 0 0.00 19 8 29.63 ENSG00000232274 0 genome.wustl.edu 37 1 143189128 143189128 + RNA SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 143189128 143189128 G A SNP ENSG00000232274 ENST00000447389 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 rs202058739 - 13 0 0.00 25 10 28.57 ENSG00000233539 0 genome.wustl.edu 37 7 46728937 46728937 + RNA SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 46728937 46728937 T G SNP ENSG00000233539 ENST00000469937 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC011294.3 Clone_based_vega_gene ENSG00000233539 tier1 - - 16 0 0.00 16 13 44.83 ENSG00000235994 0 genome.wustl.edu 37 6 168377223 168377224 + RNA INS - - A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 168377223 168377224 0 A INS ENSG00000235994 ENST00000538528 human ensembl 74_37 -1 known rna NULL NULL 0.633:0.622 - - - no_errors RP3-470B24.5 Clone_based_vega_gene ENSG00000235994 165 0 0.00 99 8 7.48 ENSG00000237568 0 genome.wustl.edu 37 1 89726351 89726351 + RNA SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 89726351 89726351 A G SNP ENSG00000237568 ENST00000437128 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-620F22.2 Clone_based_vega_gene ENSG00000237568 tier1 - - 44 0 0.00 117 10 7.87 ENSG00000249054 0 genome.wustl.edu 37 12 68701 68701 + RNA SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 68701 68701 G A SNP ENSG00000249054 ENST00000504074 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-598F7.1 Clone_based_vega_gene ENSG00000249054 tier1 - - 76 0 0.00 103 28 21.37 ENSG00000257743 0 genome.wustl.edu 37 7 141897528 141897528 + Silent SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 141897528 141897528 T C SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative silent c.4866 p.T1622 0.006 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier1 - - 37 0 0.00 35 4 10.26 ENSG00000267601 0 genome.wustl.edu 37 17 76851731 76851731 + RNA SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 76851731 76851731 G T SNP ENSG00000267601 ENST00000587434 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors RP11-323N12.5 Clone_based_vega_gene ENSG00000267601 tier1 - - 38 0 0.00 51 4 7.27 ENSG00000267686 0 genome.wustl.edu 37 18 57792403 57792403 + RNA SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 18 57792403 57792403 C T SNP ENSG00000267686 ENST00000588794 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors RP11-795H16.3 Clone_based_vega_gene ENSG00000267686 tier1 - - 35 0 0.00 9 28 75.68 ENSG00000267865 0 genome.wustl.edu 37 19 56220430 56220431 + RNA INS - - T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 56220430 56220431 - T INS ENSG00000267865 ENST00000596293 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267865 tier1 10 0 0.00 37 5 11.90 ENSG00000273419 0 genome.wustl.edu 37 7 149556821 149556821 + RNA SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 149556821 149556821 G A SNP ENSG00000273419 ENST00000608963 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP4-751H13.7 Clone_based_vega_gene ENSG00000273419 tier1 - - 12 0 0.00 1 6 85.71 ENTPD4 0 genome.wustl.edu 37 8 23290462 23290462 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 8 23290462 23290462 G T SNP ENTPD4 ENST00000358689 human ensembl 74_37 -1 known missense c.1828 p.Q610K 1.000 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD4 HGNC ENSG00000197217 tier1 - - 88 0 0.00 61 4 6.15 EPB41L2 0 genome.wustl.edu 37 6 131247763 131247763 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 131247763 131247763 C A SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.792 p.Q264H 1.000 pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41L2 HGNC ENSG00000079819 tier1 - - 55 0 0.00 60 4 6.25 EPGN 0 genome.wustl.edu 37 4 75178008 75178008 + Missense_Mutation SNP G G C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 75178008 75178008 G C SNP EPGN ENST00000413830 human ensembl 74_37 +1 known missense c.240 p.E80D 0.995 pfscan_EG-like_dom pfscan_EG-like_dom - no_errors EPGN HGNC ENSG00000182585 tier1 - - 37 0 0.00 14 32 69.57 EPHB1 0 genome.wustl.edu 37 3 134884809 134884809 + Splice_Site SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 134884809 134884809 G T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known splice_site c.1586-1 e8-1 1.000 - - - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 49 0 0.00 57 5 8.06 EXT2 0 genome.wustl.edu 37 11 44219380 44219380 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 44219380 44219380 A C SNP EXT2 ENST00000395673 human ensembl 74_37 +1 known missense c.1406 p.K469T 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 tier1 - - 36 0 0.00 29 21 42.00 EYS 0 genome.wustl.edu 37 6 65301235 65301235 + Missense_Mutation SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 65301235 65301235 T G SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.4525 p.N1509H 0.369 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 34 0 0.00 7 20 74.07 EYS 0 genome.wustl.edu 37 6 66200490 66200490 + Missense_Mutation SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 66200490 66200490 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.859 p.S287P 0.063 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 37 0 0.00 7 39 84.78 EYS 0 genome.wustl.edu 37 6 66205228 66205228 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 66205228 66205228 G T SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.76 p.R26 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 20 0 0.00 31 2 6.06 EZH1 0 genome.wustl.edu 37 17 40861907 40861907 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 40861907 40861907 C T SNP EZH1 ENST00000428826 human ensembl 74_37 -1 known missense c.1450 p.D484N 1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 tier1 - - 52 0 0.00 101 8 7.34 EZH2 0 genome.wustl.edu 37 7 148525883 148525883 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 148525883 148525883 C A SNP EZH2 ENST00000320356 human ensembl 74_37 -1 known missense c.574 p.D192Y 1.000 smart_SANT/Myb pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 22 0 0.00 28 2 6.67 FAM138B 0 genome.wustl.edu 37 2 114335558 114335558 + Splice_Site SNP G G C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 114335558 114335558 G C SNP FAM138B ENST00000432583 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.629 - - - no_errors FAM138B HGNC ENSG00000226516 tier1 - - 71 0 0.00 81 34 29.57 FAM65C 0 genome.wustl.edu 37 20 49208889 49208889 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 20 49208889 49208889 G T SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known silent c.2569 p.R857 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 tier1 - - 14 0 0.00 15 13 46.43 FAM98C 0 genome.wustl.edu 37 19 38894313 38894313 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 38894313 38894313 G A SNP FAM98C ENST00000252530 human ensembl 74_37 +1 known missense c.328 p.G110S 0.002 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98C HGNC ENSG00000130244 21 0 0.00 35 3 7.89 FAT1 0 genome.wustl.edu 37 4 187540345 187540345 + Silent SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 187540345 187540345 C A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.7395 p.L2465 0.620 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 36 0 0.00 26 3 10.00 FBN3 0 genome.wustl.edu 37 19 8210812 8210812 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 8210812 8210812 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.360 p.C120 1.000 smart_EG-like_dom,pirsf_FBN 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,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 35 0 0.00 50 4 7.41 FBXL14 0 genome.wustl.edu 37 12 1675955 1675955 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 1675955 1675955 G T SNP FBXL14 ENST00000339235 human ensembl 74_37 -1 known missense c.1216 p.P406T 0.337 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,pfam_Leu-rich_rpt_2,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL14 HGNC ENSG00000171823 tier1 - - 74 0 0.00 59 4 6.25 FBXO10 0 genome.wustl.edu 37 9 37541505 37541505 + Missense_Mutation SNP C C G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 37541505 37541505 C G SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known missense c.261 p.K87N 1.000 superfamily_F-box_dom pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 tier1 - - 69 0 0.00 56 26 31.33 FBXW5 0 genome.wustl.edu 37 9 139836975 139836975 + RNA SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 139836975 139836975 C T SNP FBXW5 ENST00000483559 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FBXW5 HGNC ENSG00000159069 tier1 - - 28 0 0.00 14 4 22.22 FFAR2 0 genome.wustl.edu 37 19 35941156 35941156 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 35941156 35941156 G A SNP FFAR2 ENST00000246549 human ensembl 74_37 +1 known silent c.540 p.R180 0.735 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR2 HGNC ENSG00000126262 tier1 - - 70 0 0.00 50 5 9.09 FHAD1 0 genome.wustl.edu 37 1 15686998 15686998 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 15686998 15686998 C A SNP FHAD1 ENST00000375999 human ensembl 74_37 +1 known missense c.2695 p.L899M 0.027 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 23 0 0.00 62 4 6.06 FN1 0 genome.wustl.edu 37 2 216279653 216279653 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 216279653 216279653 G T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.1848 p.I616 1.000 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 - - 52 0 0.00 82 5 5.75 FRYL 0 genome.wustl.edu 37 4 48597621 48597621 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 48597621 48597621 G T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.1234 p.Q412K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 29 0 0.00 36 2 5.26 FSTL5 0 genome.wustl.edu 37 4 162307449 162307449 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 162307449 162307449 C T SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1994 p.C665Y 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 tier1 - - 44 0 0.00 56 4 6.67 GABRE 0 genome.wustl.edu 37 X 151122015 151122015 + RNA SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 X 151122015 151122015 A C SNP GABRE ENST00000483564 human ensembl 74_37 -1 known rna NULL NULL 0.481 - - - no_errors GABRE HGNC ENSG00000102287 tier1 - - 9 0 0.00 2 18 90.00 GAD2 0 genome.wustl.edu 37 10 26505760 26505760 + Frame_Shift_Del DEL T T - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 10 26505760 26505760 T - DEL GAD2 ENST00000259271 human ensembl 74_37 +1 known frame_shift_del c.22 p.W9fs 1.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 tier1 35 0 0.00 34 2 5.56 GALNT18 0 genome.wustl.edu 37 11 11400788 11400788 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 11400788 11400788 C T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.619 p.E207K 0.560 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 GALNT18 HGNC ENSG00000110328 20 0 0.00 23 2 8.00 GARNL3 0 genome.wustl.edu 37 9 130152998 130152998 + Missense_Mutation SNP G G C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 130152998 130152998 G C SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known missense c.2822 p.S941T 0.993 NULL pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 tier1 - - 41 0 0.00 60 30 33.33 GATA2 0 genome.wustl.edu 37 3 128204731 128204731 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 128204731 128204731 C A SNP GATA2 ENST00000341105 human ensembl 74_37 -1 known missense c.710 p.G237V 0.990 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA2 HGNC ENSG00000179348 tier1 - - 39 0 0.00 29 5 14.71 GMNC 0 genome.wustl.edu 37 3 190573557 190573557 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 190573557 190573557 C T SNP GMNC ENST00000442080 human ensembl 74_37 -1 known missense c.532 p.E178K 1.000 NULL NULL - no_errors GMNC HGNC ENSG00000205835 tier1 - - 71 0 0.00 42 35 45.45 GNS 0 genome.wustl.edu 37 12 65141586 65141586 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 65141586 65141586 G T SNP GNS ENST00000258145 human ensembl 74_37 -1 known missense c.365 p.S122Y 0.259 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 - - 48 0 0.00 66 4 5.71 GOLGB1 0 genome.wustl.edu 37 3 121395812 121395812 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 121395812 121395812 G A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known silent c.9090 p.L3030 0.986 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 33 0 0.00 40 33 45.21 GPANK1 0 genome.wustl.edu 37 6 31631629 31631629 + Splice_Site SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 31631629 31631629 C T SNP GPANK1 ENST00000375893 human ensembl 74_37 -1 known splice_site c.626+1 e1+1 1.000 - - - no_errors GPANK1 HGNC ENSG00000204438 tier1 - - 46 0 0.00 74 4 5.13 GPATCH8 0 genome.wustl.edu 37 17 42476757 42476757 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 42476757 42476757 G T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.2688 p.D896E 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 tier1 - - 45 0 0.00 62 5 7.46 GRAMD1B 0 genome.wustl.edu 37 11 123483491 123483491 + Nonsense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 123483491 123483491 C T SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known nonsense c.1513 p.R505* 0.996 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 tier1 - - 46 0 0.00 13 37 74.00 GRIA4 0 genome.wustl.edu 37 11 105797615 105797615 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 105797615 105797615 G T SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known nonsense c.1996 p.E666* 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt 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 GRIA4 HGNC ENSG00000152578 28 0 0.00 22 2 8.33 GRIK1 0 genome.wustl.edu 37 21 31015238 31015238 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 21 31015238 31015238 G T SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.1006 p.H336N 1.000 pfam_ANF_lig-bd_rcpt,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 GRIK1 HGNC ENSG00000171189 tier1 - - 65 0 0.00 53 4 7.02 GRP 0 genome.wustl.edu 37 18 56892729 56892729 + Missense_Mutation SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 18 56892729 56892729 T G SNP GRP ENST00000256857 human ensembl 74_37 +1 known missense c.145 p.L49V 0.883 pfam_Bombesin pfam_Bombesin - no_errors GRP HGNC ENSG00000134443 tier1 - - 24 0 0.00 14 30 68.18 GSAP 0 genome.wustl.edu 37 7 76982276 76982276 + Silent SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 76982276 76982276 C T SNP GSAP ENST00000257626 human ensembl 74_37 -1 known silent c.1476 p.V492 0.946 NULL NULL - no_errors GSAP HGNC ENSG00000186088 24 0 0.00 41 4 8.89 GTF3C5 0 genome.wustl.edu 37 9 135933250 135933250 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 135933250 135933250 G T SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known silent c.1464 p.T488 0.000 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 tier1 - - 48 0 0.00 63 4 5.97 GTPBP2 0 genome.wustl.edu 37 6 43594099 43594099 + Nonsense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 43594099 43594099 G A SNP GTPBP2 ENST00000307126 human ensembl 74_37 -1 known nonsense c.262 p.Q88* 1.000 NULL pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP2 HGNC ENSG00000172432 tier1 - - 55 0 0.00 61 4 6.15 HHIPL2 0 genome.wustl.edu 37 1 222717196 222717196 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 222717196 222717196 G A SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known silent c.657 p.P219 0.007 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 tier1 - - 52 0 0.00 58 7 10.77 HLCS 0 genome.wustl.edu 37 21 38309059 38309059 + Missense_Mutation SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 21 38309059 38309059 A G SNP HLCS ENST00000336648 human ensembl 74_37 -1 known missense c.686 p.L229P 0.030 NULL pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 tier1 - - 30 0 0.00 50 4 7.41 HNRNPH1 0 genome.wustl.edu 37 5 179045245 179045245 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 179045245 179045245 G T SNP HNRNPH1 ENST00000510678 human ensembl 74_37 -1 known missense c.477 p.S159R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC ENSG00000169045 63 0 0.00 49 3 5.77 HOXB9 0 genome.wustl.edu 37 17 46703145 46703145 + Missense_Mutation SNP C C G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 46703145 46703145 C G SNP HOXB9 ENST00000311177 human ensembl 74_37 -1 known missense c.487 p.G163R 1.000 pfam_Hox9_activation_N,superfamily_Homeodomain-like,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB9 HGNC ENSG00000170689 tier1 - - 45 0 0.00 6 33 84.62 HRG 0 genome.wustl.edu 37 3 186395083 186395083 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 186395083 186395083 C A SNP HRG ENST00000232003 human ensembl 74_37 +1 known missense c.989 p.A330D 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC ENSG00000113905 tier1 - - 67 0 0.00 73 49 40.16 IFT81 0 genome.wustl.edu 37 12 110565878 110565878 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 110565878 110565878 C T SNP IFT81 ENST00000242591 human ensembl 74_37 +1 known missense c.172 p.P58S 1.000 NULL NULL - no_errors IFT81 HGNC ENSG00000122970 tier1 - - 29 0 0.00 93 6 6.06 INHBA 0 genome.wustl.edu 37 7 41730129 41730129 + Missense_Mutation SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 41730129 41730129 T C SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.400 p.K134E 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 tier1 - - 27 0 0.00 51 30 37.04 INO80D 0 genome.wustl.edu 37 2 206869709 206869709 + Missense_Mutation SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 206869709 206869709 A G SNP INO80D ENST00000403263 human ensembl 74_37 -1 known missense c.2467 p.S823P 1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 tier1 - - 29 0 0.00 21 13 38.24 IP6K2 0 genome.wustl.edu 37 3 48726155 48726155 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 48726155 48726155 G T SNP IP6K2 ENST00000328631 human ensembl 74_37 -1 known silent c.832 p.R278 1.000 pfam_IPK pfam_IPK - no_errors IP6K2 HGNC ENSG00000068745 67 0 0.00 72 4 5.26 IQCJ-SCHIP1 0 genome.wustl.edu 37 3 159606665 159606665 + Silent SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 159606665 159606665 C T SNP IQCJ-SCHIP1 ENST00000485419 human ensembl 74_37 +1 known silent c.1479 p.T493 0.099 pfam_SCHIP_1 pfam_SCHIP_1 - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 tier1 - - 24 0 0.00 46 44 48.35 ITPKB 0 genome.wustl.edu 37 1 226923246 226923246 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 226923246 226923246 G T SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known missense c.1914 p.D638E 1.000 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 tier1 - - 31 0 0.00 50 4 7.41 KAL1 0 genome.wustl.edu 37 X 8536274 8536274 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 X 8536274 8536274 G T SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.1206 p.N402K 0.825 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 14 0 0.00 54 3 5.26 KCNU1 0 genome.wustl.edu 37 8 36694412 36694412 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 8 36694412 36694412 G T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known silent c.1467 p.V489 0.935 pfam_K_chnl_Ca-activ_BK_asu,prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 tier1 - - 37 0 0.00 49 4 7.55 KDM6B 0 genome.wustl.edu 37 17 7754804 7754804 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 7754804 7754804 C A SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.3953 p.P1318Q 0.996 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 73 0 0.00 60 4 6.25 KIAA0141 0 genome.wustl.edu 37 5 141309600 141309600 + Silent SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 141309600 141309600 C A SNP KIAA0141 ENST00000194118 human ensembl 74_37 +1 known silent c.618 p.S206 0.009 NULL pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC ENSG00000081791 49 0 0.00 36 2 5.26 KIAA0922 0 genome.wustl.edu 37 4 154504393 154504393 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 154504393 154504393 G T SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.944 p.W315L 0.999 pfam_DUF3651_TMEM131 pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 19 0 0.00 66 4 5.71 KIAA1377 0 genome.wustl.edu 37 11 101829032 101829032 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 101829032 101829032 G T SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known missense c.640 p.V214L 0.003 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 tier1 - - 33 0 0.00 55 4 6.78 KIAA1407 0 genome.wustl.edu 37 3 113724645 113724645 + Missense_Mutation SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 113724645 113724645 T G SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known missense c.1578 p.E526D 0.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 tier1 - - 30 0 0.00 35 18 33.96 KIAA1467 0 genome.wustl.edu 37 12 13211471 13211471 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 13211471 13211471 G T SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known missense c.520 p.G174W 0.851 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 50 0 0.00 70 4 5.41 KLHL1 0 genome.wustl.edu 37 13 70681794 70681794 + Missense_Mutation SNP T T A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 13 70681794 70681794 T A SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.38 p.H13L 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 tier1 - - 59 0 0.00 58 6 9.38 KLK5 0 genome.wustl.edu 37 19 51446942 51446942 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 51446942 51446942 G A SNP KLK5 ENST00000336334 human ensembl 74_37 -1 known missense c.827 p.T276M 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK5 HGNC ENSG00000167754 57 0 0.00 42 3 6.67 KLLN 0 genome.wustl.edu 37 10 89622062 89622063 + Frame_Shift_Ins INS - - A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 10 89622062 89622063 - A INS KLLN ENST00000445946 human ensembl 74_37 -1 known frame_shift_ins c.183_182 p.R62fs 0.988:0.999 NULL NULL - no_errors KLLN HGNC ENSG00000227268 tier1 61 0 0.00 52 34 39.53 KMT2C 0 genome.wustl.edu 37 7 151860113 151860113 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 151860113 151860113 G T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.10549 p.P3517T 0.974 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 - - 49 0 0.00 52 4 7.14 KRT27 0 genome.wustl.edu 37 17 38938651 38938651 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 38938651 38938651 G T SNP KRT27 ENST00000301656 human ensembl 74_37 -1 known missense c.95 p.A32D 0.179 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC ENSG00000171446 tier1 - - 51 0 0.00 36 4 10.00 L1CAM 0 genome.wustl.edu 37 X 153130278 153130278 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 X 153130278 153130278 G T SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.3050 p.S1017Y 0.077 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 tier1 - - 65 0 0.00 64 4 5.88 LAMB4 0 genome.wustl.edu 37 7 107696189 107696189 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 107696189 107696189 C A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.3643 p.A1215S 0.079 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 tier1 - - 61 0 0.00 41 4 8.89 LAMC3 0 genome.wustl.edu 37 9 133967312 133967313 + RNA INS - - CC TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 133967312 133967313 - CC INS LAMC3 ENST00000462567 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors LAMC3 HGNC ENSG00000050555 tier1 21 0 0.00 14 3 17.65 LEPR 0 genome.wustl.edu 37 1 66031227 66031227 + Splice_Site SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 66031227 66031227 A G SNP LEPR ENST00000349533 human ensembl 74_37 +1 known splice_site c.1-2 e1-2 0.996 - - - no_errors LEPR HGNC ENSG00000116678 tier1 - - 48 0 0.00 57 64 52.46 LGALSL 0 genome.wustl.edu 37 2 64683535 64683535 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 64683535 64683535 G T SNP LGALSL ENST00000238875 human ensembl 74_37 +1 known missense c.311 p.G104V 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALSL HGNC ENSG00000119862 53 0 0.00 72 4 5.26 LIMK2 0 genome.wustl.edu 37 22 31661933 31661933 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 22 31661933 31661933 C A SNP LIMK2 ENST00000331728 human ensembl 74_37 +1 known missense c.856 p.R286S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 43 0 0.00 37 2 5.13 LIPJ 0 genome.wustl.edu 37 10 90365400 90365400 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 10 90365400 90365400 C A SNP LIPJ ENST00000371939 human ensembl 74_37 +1 known missense c.806 p.S269Y 0.079 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPJ HGNC ENSG00000204022 15 0 0.00 33 3 8.33 LMAN1L 0 genome.wustl.edu 37 15 75115035 75115035 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 75115035 75115035 C T SNP LMAN1L ENST00000309664 human ensembl 74_37 +1 known missense c.1184 p.A395V 0.917 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 tier1 - - 46 0 0.00 64 9 12.33 LOC728586 0 genome.wustl.edu 37 5 127090028 127090028 + RNA SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 127090028 127090028 G T SNP LOC728586 ENST00000514853 human ensembl 74_37 +1 known rna NULL NULL 0.949 - - - no_errors CTC-228N24.1 Clone_based_vega_gene ENSG00000230561 tier1 - - 33 0 0.00 41 4 8.89 LONP1 0 genome.wustl.edu 37 19 5693716 5693716 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 5693716 5693716 G T SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known missense c.2385 p.D795E 0.993 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 tier1 - - 38 0 0.00 22 4 15.38 LONRF1 0 genome.wustl.edu 37 8 12586755 12586755 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 8 12586755 12586755 C T SNP LONRF1 ENST00000398246 human ensembl 74_37 -1 known missense c.1775 p.R592K 1.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 tier1 - - 16 0 0.00 19 8 29.63 LPHN3 0 genome.wustl.edu 37 4 62903486 62903486 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 62903486 62903486 G T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.3602 p.C1201F 1.000 pfam_GPCR_2_latrophilin_rcpt_C 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 - - 68 0 0.00 54 4 6.90 LPIN2 0 genome.wustl.edu 37 18 2937789 2937789 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 18 2937789 2937789 A C SNP LPIN2 ENST00000261596 human ensembl 74_37 -1 known missense c.1069 p.S357A 0.105 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 tier1 - - 39 0 0.00 37 24 39.34 LRRC41 0 genome.wustl.edu 37 1 46751588 46751588 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 46751588 46751588 G A SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known missense c.941 p.P314L 0.337 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 tier1 rs143695685 - 53 0 0.00 42 14 25.00 LRRC4C 0 genome.wustl.edu 37 11 40135924 40135924 + Missense_Mutation SNP A A T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 40135924 40135924 A T SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known missense c.1919 p.I640N 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 tier1 - - 32 0 0.00 53 42 44.21 MAP4K2 0 genome.wustl.edu 37 11 64559877 64559877 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 64559877 64559877 G T SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known missense c.1769 p.T590N 0.999 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K2 HGNC ENSG00000168067 tier1 - - 76 0 0.00 37 4 9.76 MAST1 0 genome.wustl.edu 37 19 12976154 12976154 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 12976154 12976154 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.1663 p.A555T 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 tier1 - - 58 0 0.00 8 31 79.49 MBD3 0 genome.wustl.edu 37 19 1578360 1578360 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 1578360 1578360 G T SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known missense c.855 p.D285E 0.848 NULL pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 tier1 - - 53 0 0.00 16 4 20.00 MBL2 0 genome.wustl.edu 37 10 54528082 54528082 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 10 54528082 54528082 C A SNP MBL2 ENST00000373968 human ensembl 74_37 -1 known missense c.562 p.D188Y 0.967 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MBL2 HGNC ENSG00000165471 18 0 0.00 32 2 5.88 MGA 0 genome.wustl.edu 37 15 41961679 41961679 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 41961679 41961679 C T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.587 p.S196F 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box 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 16 0 0.00 50 5 9.09 MID1 0 genome.wustl.edu 37 X 10535076 10535076 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 X 10535076 10535076 C A SNP MID1 ENST00000317552 human ensembl 74_37 -1 known missense c.512 p.R171L 1.000 smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 24 0 0.00 41 4 8.89 MKRN3 0 genome.wustl.edu 37 15 23812263 23812263 + Missense_Mutation SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 23812263 23812263 T C SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.1334 p.L445P 0.002 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 tier1 - - 47 0 0.00 30 35 53.85 MPO 0 genome.wustl.edu 37 17 56357278 56357278 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 56357278 56357278 C T SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.346 p.A116T 0.980 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 tier1 - - 87 0 0.00 61 13 17.57 MT-CO1 0 genome.wustl.edu 37 MT 7332 7332 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 MT 7332 7332 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.1429 p.A477T NULL superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 31 0 0.00 3 144 97.96 MTOR 0 genome.wustl.edu 37 1 11206789 11206789 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 11206789 11206789 C T SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.4630 p.A1544T 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 tier1 - - 37 0 0.00 73 4 5.19 MUC12 0 genome.wustl.edu 37 7 100643679 100643679 + Missense_Mutation SNP T T A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 100643679 100643679 T A SNP MUC12 ENST00000536621 human ensembl 74_37 +1 known missense c.9835 p.S3279T 0.028 NULL pfam_SEA_dom - no_errors MUC12 HGNC ENSG00000205277 tier1 - - 432 0 0.00 679 59 7.98 MUC17 0 genome.wustl.edu 37 7 100680772 100680772 + Silent SNP T T A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 100680772 100680772 T A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.6075 p.S2025 0.264 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 59 0 0.00 57 41 41.84 MUC17 0 genome.wustl.edu 37 7 100680773 100680773 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 100680773 100680773 C A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.6076 p.P2026T 0.207 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 60 0 0.00 56 41 42.27 MUC4 0 genome.wustl.edu 37 3 195490953 195490953 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 195490953 195490953 G T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.14007 p.P4669 0.653 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 62 0 0.00 59 4 6.35 MYH4 0 genome.wustl.edu 37 17 10351436 10351436 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 10351436 10351436 A C SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.4664 p.L1555R 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 tier1 - - 9 0 0.00 4 13 76.47 MZF1 0 genome.wustl.edu 37 19 59073508 59073508 + Silent SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 59073508 59073508 C T SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known silent c.2136 p.Q712 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 MZF1 HGNC ENSG00000099326 tier1 - - 73 0 0.00 26 9 25.71 NAF1 0 genome.wustl.edu 37 4 164050200 164050200 + Frame_Shift_Del DEL G G - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 164050200 164050200 G - DEL NAF1 ENST00000274054 human ensembl 74_37 -1 known frame_shift_del c.1334 p.P445fs 0.226 NULL pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_B-barrel - no_errors NAF1 HGNC ENSG00000145414 tier1 23 0 0.00 21 2 8.70 NBPF10 0 genome.wustl.edu 37 1 145323656 145323656 + Missense_Mutation SNP A A T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 145323656 145323656 A T SNP NBPF10 ENST00000342960 human ensembl 74_37 +1 known missense c.3493 p.I1165F 0.007 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 56 0 0.00 84 5 5.62 NCKAP5 0 genome.wustl.edu 37 2 133540288 133540288 + Missense_Mutation SNP T T A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 133540288 133540288 T A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.4096 p.S1366C 0.996 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 30 0 0.00 27 8 22.86 NCL 0 genome.wustl.edu 37 2 232323098 232323098 + Nonsense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 232323098 232323098 G A SNP NCL ENST00000322723 human ensembl 74_37 -1 known nonsense c.1168 p.R390* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 15 0 0.00 60 4 6.25 NEDD4L 0 genome.wustl.edu 37 18 56063468 56063468 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 18 56063468 56063468 G T SNP NEDD4L ENST00000400345 human ensembl 74_37 +1 known silent c.2895 p.V965 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 tier1 - - 27 0 0.00 65 5 7.14 NEK5 0 genome.wustl.edu 37 13 52657463 52657463 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 13 52657463 52657463 G T SNP NEK5 ENST00000355568 human ensembl 74_37 -1 known missense c.1505 p.T502N 0.997 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 26 0 0.00 60 4 6.25 NELL1 0 genome.wustl.edu 37 11 21592431 21592431 + Missense_Mutation SNP A A T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 21592431 21592431 A T SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.2102 p.K701M 1.000 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C 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 NELL1 HGNC ENSG00000165973 tier1 - - 48 0 0.00 27 14 34.15 NEXN 0 genome.wustl.edu 37 1 78383667 78383667 + Missense_Mutation SNP A A T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 78383667 78383667 A T SNP NEXN ENST00000334785 human ensembl 74_37 +1 known missense c.242 p.D81V 1.000 NULL pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NEXN HGNC ENSG00000162614 tier1 - - 27 0 0.00 46 29 38.67 NIN 0 genome.wustl.edu 37 14 51233526 51233526 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 14 51233526 51233526 C T SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.1517 p.R506K 0.833 superfamily_tRNA-bd_arm superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 30 0 0.00 10 28 73.68 NPC1 0 genome.wustl.edu 37 18 21140316 21140316 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 18 21140316 21140316 G A SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.760 p.P254S 1.000 tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 tier1 - - 19 0 0.00 21 9 30.00 NR3C2 0 genome.wustl.edu 37 4 149181246 149181246 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 149181246 149181246 G T SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.1781 p.T594N 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 - - 44 0 0.00 54 4 6.90 NR5A2 0 genome.wustl.edu 37 1 200017441 200017441 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 200017441 200017441 C T SNP NR5A2 ENST00000367362 human ensembl 74_37 +1 known missense c.605 p.A202V 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1 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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 tier1 - - 43 0 0.00 40 36 47.37 NTN5 0 genome.wustl.edu 37 19 49174223 49174223 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 49174223 49174223 G T SNP NTN5 ENST00000270235 human ensembl 74_37 -1 known silent c.21 p.L7 0.990 NULL pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Netrin_domain - no_errors NTN5 HGNC ENSG00000142233 63 0 0.00 35 3 7.89 NUP107 0 genome.wustl.edu 37 12 69126365 69126366 + RNA INS - - A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 69126365 69126366 - A INS NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors NUP107 HGNC ENSG00000111581 tier1 30 0 0.00 46 10 17.86 NUP133 0 genome.wustl.edu 37 1 229631291 229631291 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 229631291 229631291 C A SNP NUP133 ENST00000261396 human ensembl 74_37 -1 known missense c.997 p.A333S 1.000 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 tier1 - - 18 0 0.00 21 9 30.00 NUP93 0 genome.wustl.edu 37 16 56782289 56782289 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 16 56782289 56782289 C T SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known missense c.130 p.R44C 1.000 NULL pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 tier1 - - 40 0 0.00 6 17 73.91 OGDHL 0 genome.wustl.edu 37 10 50951015 50951015 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 10 50951015 50951015 C T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.1871 p.R624H 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 tier1 - - 50 0 0.00 29 20 40.82 OGG1 0 genome.wustl.edu 37 3 9792631 9792631 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 9792631 9792631 G T SNP OGG1 ENST00000302036 human ensembl 74_37 +1 known missense c.140 p.W47L 1.000 pfam_OGG_N,tigrfam_Ogg pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg - no_errors OGG1 HGNC ENSG00000114026 tier1 - - 42 0 0.00 44 5 10.20 OR10A2 0 genome.wustl.edu 37 11 6891759 6891759 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 6891759 6891759 G A SNP OR10A2 ENST00000307322 human ensembl 74_37 +1 known silent c.774 p.K258 0.953 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A2 HGNC ENSG00000170790 tier1 - - 34 0 0.00 41 25 37.88 OR10Z1 0 genome.wustl.edu 37 1 158576277 158576277 + Missense_Mutation SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 158576277 158576277 T C SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known missense c.49 p.F17L 0.994 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 tier1 - - 20 0 0.00 11 18 62.07 OR2J3 0 genome.wustl.edu 37 6 29079992 29079992 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 29079992 29079992 G A SNP OR2J3 ENST00000377169 human ensembl 74_37 +1 known missense c.325 p.A109T 0.183 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 OR2J3 HGNC ENSG00000204701 49 0 0.00 95 5 5.00 OR2L8 0 genome.wustl.edu 37 1 248112865 248112865 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 248112865 248112865 G A SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.706 p.A236T 0.054 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 tier1 - - 53 0 0.00 64 49 43.36 OR4C12 0 genome.wustl.edu 37 11 50003113 50003113 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 50003113 50003113 C A SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known missense c.925 p.D309Y 0.000 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 15 0 0.00 19 2 9.52 OR4C16 0 genome.wustl.edu 37 11 55340159 55340159 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 55340159 55340159 G A SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.556 p.A186T 0.563 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 tier1 - - 40 0 0.00 40 33 45.21 OR5L1 0 genome.wustl.edu 37 11 55579180 55579180 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 55579180 55579180 A C SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known missense c.238 p.K80Q 0.019 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 OR5L1 HGNC ENSG00000186117 tier1 - - 64 0 0.00 53 45 45.92 OR5T3 0 genome.wustl.edu 37 11 56020653 56020653 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 56020653 56020653 A C SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known missense c.978 p.E326D 0.884 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 tier1 - - 21 0 0.00 22 16 42.11 OR5W2 0 genome.wustl.edu 37 11 55681965 55681965 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 55681965 55681965 A C SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known missense c.94 p.L32V 0.017 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 tier1 - - 41 0 0.00 48 37 43.53 OR8J1 0 genome.wustl.edu 37 11 56128223 56128223 + Silent SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 56128223 56128223 T G SNP OR8J1 ENST00000303039 human ensembl 74_37 +1 known silent c.501 p.S167 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J1 HGNC ENSG00000172487 tier1 - - 24 0 0.00 27 14 34.15 P4HB 0 genome.wustl.edu 37 17 79805186 79805186 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 79805186 79805186 G T SNP P4HB ENST00000331483 human ensembl 74_37 -1 known missense c.662 p.T221N 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 80 0 0.00 71 4 5.33 PAPPA2 0 genome.wustl.edu 37 1 176564726 176564726 + Silent SNP C C G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 176564726 176564726 C G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.1986 p.P662 0.972 NULL 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 - - 45 0 0.00 26 21 44.68 PDCD11 0 genome.wustl.edu 37 10 105169561 105169561 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 10 105169561 105169561 G T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.976 p.A326S 0.001 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 tier1 - - 30 0 0.00 56 4 6.67 PDE1A 0 genome.wustl.edu 37 2 183051292 183051292 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 183051292 183051292 G T SNP PDE1A ENST00000456212 human ensembl 74_37 -1 known missense c.1279 p.P427T 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 11 0 0.00 33 2 5.71 PDE2A 0 genome.wustl.edu 37 11 72290624 72290624 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 72290624 72290624 A C SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.2210 p.I737S 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 tier1 - - 112 0 0.00 72 18 20.00 PDHA2 0 genome.wustl.edu 37 4 96761634 96761634 + Silent SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 96761634 96761634 C T SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known silent c.333 p.H111 0.258 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 tier1 - - 55 0 0.00 42 5 10.64 PGBD4 0 genome.wustl.edu 37 15 34396159 34396159 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 34396159 34396159 C A SNP PGBD4 ENST00000397766 human ensembl 74_37 +1 known missense c.1427 p.P476H 0.083 NULL NULL - no_errors PGBD4 HGNC ENSG00000182405 12 0 0.00 30 2 6.25 PHC2 0 genome.wustl.edu 37 1 33841079 33841079 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 33841079 33841079 C T SNP PHC2 ENST00000419414 human ensembl 74_37 -1 known missense c.62 p.S21N 0.982 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 tier1 - - 32 0 0.00 29 15 34.09 PHRF1 0 genome.wustl.edu 37 11 601669 601669 + Nonsense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 601669 601669 C T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known nonsense c.1120 p.R374* 0.013 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 - - 56 0 0.00 80 22 21.57 PKHD1 0 genome.wustl.edu 37 6 51613257 51613257 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 51613257 51613257 A C SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.9157 p.L3053V 0.968 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 33 0 0.00 34 20 37.04 PLD5 0 genome.wustl.edu 37 1 242253189 242253189 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 242253189 242253189 G A SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known silent c.1578 p.D526 0.001 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 tier1 - - 85 0 0.00 47 43 47.78 PLD5 0 genome.wustl.edu 37 1 242277295 242277295 + Missense_Mutation SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 242277295 242277295 T C SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known missense c.967 p.S323G 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 tier1 - - 37 0 0.00 31 22 41.51 PLEKHG5 0 genome.wustl.edu 37 1 6530819 6530819 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 6530819 6530819 G T SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known silent c.1755 p.R585 0.015 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 tier1 - - 27 0 0.00 26 12 31.58 PLEKHM1P 0 genome.wustl.edu 37 17 62783373 62783373 + RNA SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 62783373 62783373 A G SNP PLEKHM1P ENST00000578036 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PLEKHM1P HGNC ENSG00000214176 tier1 - - 81 0 0.00 83 5 5.68 PLIN2 0 genome.wustl.edu 37 9 19121077 19121077 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 19121077 19121077 G A SNP PLIN2 ENST00000276914 human ensembl 74_37 -1 known silent c.396 p.S132 0.994 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN2 HGNC ENSG00000147872 11 0 0.00 26 4 12.90 PMPCA 0 genome.wustl.edu 37 9 139310795 139310795 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 139310795 139310795 G T SNP PMPCA ENST00000371717 human ensembl 74_37 +1 known silent c.585 p.L195 0.927 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 tier1 - - 37 0 0.00 73 4 5.19 PRAMEF4 0 genome.wustl.edu 37 1 12939505 12939505 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 12939505 12939505 A C SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known missense c.1297 p.F433V 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 tier1 - - 191 0 0.00 212 183 46.33 PRAMEF7 0 genome.wustl.edu 37 1 12979871 12979871 + Missense_Mutation SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 12979871 12979871 T G SNP PRAMEF7 ENST00000330881 human ensembl 74_37 +1 known missense c.1063 p.L355V 0.135 NULL NULL - no_errors PRAMEF7 HGNC ENSG00000204510 tier1 - - 173 0 0.00 219 93 29.71 PRCD 0 genome.wustl.edu 37 17 74538711 74538711 + RNA SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 74538711 74538711 G A SNP PRCD ENST00000397633 human ensembl 74_37 +1 known rna NULL NULL 0.465 - - - no_errors PRCD HGNC ENSG00000214140 tier1 - - 26 0 0.00 21 53 71.62 PRSS38 0 genome.wustl.edu 37 1 228033841 228033841 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 228033841 228033841 C T SNP PRSS38 ENST00000366757 human ensembl 74_37 +1 known missense c.913 p.L305F 0.000 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 tier1 - - 43 0 0.00 44 22 33.33 PSMB3 0 genome.wustl.edu 37 17 36920394 36920394 + Missense_Mutation SNP A A T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 36920394 36920394 A T SNP PSMB3 ENST00000225426 human ensembl 74_37 +1 known missense c.592 p.R198W 1.000 NULL pfam_Proteasome_sua/b - no_errors PSMB3 HGNC ENSG00000108294 tier1 - - 71 0 0.00 60 55 47.83 PSMB5 0 genome.wustl.edu 37 14 23503912 23503912 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 14 23503912 23503912 G T SNP PSMB5 ENST00000361611 human ensembl 74_37 -1 known missense c.179 p.T60K 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB5 HGNC ENSG00000100804 62 0 0.00 49 4 7.55 PTH1R 0 genome.wustl.edu 37 3 46944902 46944902 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 46944902 46944902 G T SNP PTH1R ENST00000313049 human ensembl 74_37 +1 known missense c.1538 p.G513V 1.000 prints_GPCR_2_parathyroid_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 53 0 0.00 74 4 5.13 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 tier1 20 0 0.00 35 5 12.50 PTPN7 0 genome.wustl.edu 37 1 202119449 202119449 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 202119449 202119449 G A SNP PTPN7 ENST00000309017 human ensembl 74_37 -1 known missense c.1294 p.R432W 0.998 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN7 HGNC ENSG00000143851 tier1 - - 68 0 0.00 87 21 19.44 RAB11FIP2 0 genome.wustl.edu 37 10 119765266 119765267 + RNA INS - - T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 10 119765266 119765267 - T INS RAB11FIP2 ENST00000476207 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RAB11FIP2 HGNC ENSG00000107560 tier1 23 0 0.00 17 4 19.05 RABGAP1L 0 genome.wustl.edu 37 1 174190247 174190247 + Silent SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 174190247 174190247 A G SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known silent c.276 p.P92 0.762 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 tier1 - - 31 0 0.00 36 22 37.93 RBM10 0 genome.wustl.edu 37 X 47039309 47039309 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 X 47039309 47039309 G A SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known missense c.932 p.S311N 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 tier1 - - 55 0 0.00 7 52 88.14 RBP3 0 genome.wustl.edu 37 10 48388265 48388265 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 10 48388265 48388265 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known silent c.2613 p.P871 1.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 tier1 - - 66 0 0.00 38 19 33.33 RELN 0 genome.wustl.edu 37 7 103141201 103141201 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 103141201 103141201 G T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.8658 p.H2886Q 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 83 0 0.00 64 4 5.88 RGMB 0 genome.wustl.edu 37 5 98115457 98115457 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 98115457 98115457 G T SNP RGMB ENST00000308234 human ensembl 74_37 +1 known missense c.433 p.V145L 1.000 pfam_RGM_N pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 48 0 0.00 29 2 6.45 RGPD3 0 genome.wustl.edu 37 2 107040103 107040103 + Missense_Mutation SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 107040103 107040103 T G SNP RGPD3 ENST00000304514 human ensembl 74_37 -1 known missense c.4320 p.K1440N 0.968 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 tier1 - - 47 0 0.00 81 53 39.55 RIF1 0 genome.wustl.edu 37 2 152319844 152319844 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 152319844 152319844 G T SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known silent c.3810 p.G1270 0.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 23 0 0.00 58 4 6.45 RNF24 0 genome.wustl.edu 37 20 3944539 3944539 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 20 3944539 3944539 G T SNP RNF24 ENST00000432261 human ensembl 74_37 -1 known missense c.189 p.F63L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF24 HGNC ENSG00000101236 tier1 - - 52 0 0.00 54 4 6.90 RNH1 0 genome.wustl.edu 37 11 494990 494991 + Frame_Shift_Ins INS - - T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 494990 494991 - T INS RNH1 ENST00000354420 human ensembl 74_37 -1 known frame_shift_ins c.1191_1190 p.N397fs 0.002:0.006 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 tier1 52 0 0.00 64 39 37.86 RPGRIP1 0 genome.wustl.edu 37 14 21790080 21790080 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 14 21790080 21790080 G T SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known missense c.1679 p.R560M 0.898 NULL pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 54 0 0.00 62 4 6.06 RPL7L1 0 genome.wustl.edu 37 6 42848666 42848666 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 42848666 42848666 G A SNP RPL7L1 ENST00000304734 human ensembl 74_37 +1 known missense c.82 p.A28T 1.000 pfam_Ribosomal_L30_N,tigrfam_Ribosomal_L7_euk pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7L1 HGNC ENSG00000146223 tier1 - - 90 0 0.00 129 75 36.76 RS1 0 genome.wustl.edu 37 X 18665448 18665448 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 X 18665448 18665448 G T SNP RS1 ENST00000379984 human ensembl 74_37 -1 known nonsense c.189 p.C63* 1.000 smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors RS1 HGNC ENSG00000102104 44 0 0.00 65 4 5.80 RSPH6A 0 genome.wustl.edu 37 19 46307822 46307822 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 46307822 46307822 G T SNP RSPH6A ENST00000221538 human ensembl 74_37 -1 known silent c.1341 p.A447 0.038 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH6A HGNC ENSG00000104941 tier1 - - 77 0 0.00 61 4 6.15 RYR3 0 genome.wustl.edu 37 15 33831636 33831636 + Silent SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 33831636 33831636 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.519 p.L173 0.219 pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 44 0 0.00 48 25 34.25 RYR3 0 genome.wustl.edu 37 15 33922180 33922180 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 33922180 33922180 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known nonsense c.2719 p.E907* 1.000 pfam_Ryanodine_rcpt pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 37 0 0.00 62 4 6.06 SACS 0 genome.wustl.edu 37 13 23905608 23905608 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 13 23905608 23905608 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.12407 p.L4136R 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 9 0 0.00 42 4 8.70 SAMD4B 0 genome.wustl.edu 37 19 39860549 39860549 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 39860549 39860549 G T SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known nonsense c.451 p.E151* 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 57 0 0.00 58 4 6.45 SCN4B 0 genome.wustl.edu 37 11 118006825 118006826 + RNA INS - - A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 118006825 118006826 - A INS SCN4B ENST00000423160 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors SCN4B HGNC ENSG00000177098 tier1 13 0 0.00 2 2 50.00 SEC24A 0 genome.wustl.edu 37 5 134053838 134053838 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 134053838 134053838 G T SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known missense c.2945 p.G982V 1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 20 0 0.00 34 2 5.56 SETDB2 0 genome.wustl.edu 37 13 50062692 50062692 + Missense_Mutation SNP C C G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 13 50062692 50062692 C G SNP SETDB2 ENST00000317257 human ensembl 74_37 +1 known missense c.1879 p.L627V 0.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 tier1 - - 52 0 0.00 88 7 7.37 SETX 0 genome.wustl.edu 37 9 135158548 135158548 + RNA DEL A A - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 135158548 135158548 A - DEL SETX ENST00000474172 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors SETX HGNC ENSG00000107290 tier1 27 0 0.00 72 6 7.69 SHB 0 genome.wustl.edu 37 9 38016031 38016031 + Missense_Mutation SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 38016031 38016031 T G SNP SHB ENST00000377707 human ensembl 74_37 -1 known missense c.815 p.Y272S 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHB HGNC ENSG00000107338 tier1 - - 30 0 0.00 26 19 42.22 SIPA1L1 0 genome.wustl.edu 37 14 72117066 72117066 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 14 72117066 72117066 G T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.1833 p.Q611H 1.000 pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 tier1 - - 30 0 0.00 27 4 12.90 SLC10A7 0 genome.wustl.edu 37 4 147179885 147179885 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 147179885 147179885 A C SNP SLC10A7 ENST00000394062 human ensembl 74_37 -1 known missense c.952 p.L318V 0.565 pirsf_Put_Na-Bile_cotransptr pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr - no_errors SLC10A7 HGNC ENSG00000120519 tier1 - - 41 0 0.00 23 16 41.03 SLC22A18 0 genome.wustl.edu 37 11 2924637 2924637 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 2924637 2924637 G T SNP SLC22A18 ENST00000312221 human ensembl 74_37 +1 known missense c.62 p.G21V 0.009 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC22A18 HGNC ENSG00000110628 70 0 0.00 47 4 7.84 SLC30A8 0 genome.wustl.edu 37 8 118170001 118170001 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 8 118170001 118170001 G A SNP SLC30A8 ENST00000456015 human ensembl 74_37 +1 known missense c.490 p.E164K 0.372 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A8 HGNC ENSG00000164756 tier1 - - 57 0 0.00 56 37 39.78 SLC45A4 0 genome.wustl.edu 37 8 142225916 142225916 + Missense_Mutation SNP G G C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 8 142225916 142225916 G C SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.1883 p.S628C 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 tier1 - - 50 0 0.00 57 8 12.31 SLC4A2 0 genome.wustl.edu 37 7 150761424 150761424 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 150761424 150761424 G T SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.187 p.G63C 1.000 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 24 0 0.00 14 2 12.50 SLC5A9 0 genome.wustl.edu 37 1 48713180 48713180 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 48713180 48713180 G T SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known missense c.2086 p.A696S 0.823 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 tier1 - - 52 0 0.00 60 4 6.25 SLC6A18 0 genome.wustl.edu 37 5 1242967 1242967 + Missense_Mutation SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 1242967 1242967 T G SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known missense c.1120 p.F374V 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 SLC6A18 HGNC ENSG00000164363 tier1 - - 57 0 0.00 81 22 21.36 SLC9A3 0 genome.wustl.edu 37 5 492104 492104 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 492104 492104 G A SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known silent c.294 p.I98 0.970 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 tier1 - - 98 0 0.00 90 28 23.73 SLCO1B3 0 genome.wustl.edu 37 12 21015743 21015743 + Missense_Mutation SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 12 21015743 21015743 T C SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.682 p.S228P 0.995 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 SLCO1B3 HGNC ENSG00000111700 tier1 - - 58 0 0.00 51 9 15.00 SLFN5 0 genome.wustl.edu 37 17 33586292 33586292 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 33586292 33586292 G T SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.583 p.V195F 0.844 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 19 0 0.00 39 4 9.30 SMARCC1 0 genome.wustl.edu 37 3 47677562 47677562 + Missense_Mutation SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 47677562 47677562 T C SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.2441 p.K814R 0.976 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 tier1 - - 36 0 0.00 53 43 44.79 SMYD1 0 genome.wustl.edu 37 2 88387421 88387421 + Missense_Mutation SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 88387421 88387421 A G SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known missense c.355 p.T119A 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 53 0 0.00 45 4 8.00 SNAP47 0 genome.wustl.edu 37 1 227935805 227935805 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 227935805 227935805 C T SNP SNAP47 ENST00000366759 human ensembl 74_37 +1 known missense c.503 p.T168M 0.806 NULL pfscan_T_SNARE_dom - no_errors SNAP47 HGNC ENSG00000143740 tier1 - - 54 0 0.00 57 4 6.56 SNORD116-17 0 genome.wustl.edu 37 15 25328742 25328742 + RNA SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 25328742 25328742 T C SNP SNORD116-17 ENST00000383929 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors SNORD116-17 HGNC ENSG00000206656 tier1 - - 106 0 0.00 81 54 40.00 SPATA5L1 0 genome.wustl.edu 37 15 45713328 45713328 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 45713328 45713328 C A SNP SPATA5L1 ENST00000305560 human ensembl 74_37 +1 known missense c.2182 p.P728T 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors SPATA5L1 HGNC ENSG00000171763 tier1 - - 37 0 0.00 16 45 73.77 SPEF2 0 genome.wustl.edu 37 5 35641562 35641562 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 35641562 35641562 C A SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.191 p.S64Y 1.000 pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 63 0 0.00 123 36 22.64 STAB1 0 genome.wustl.edu 37 3 52556178 52556178 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 52556178 52556178 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.6397 p.R2133C 0.206 pfscan_EG-like_dom 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 - - 65 0 0.00 125 7 5.30 SYDE2 0 genome.wustl.edu 37 1 85648574 85648574 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 85648574 85648574 G T SNP SYDE2 ENST00000341460 human ensembl 74_37 -1 known missense c.1751 p.A584D 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 40 0 0.00 52 3 5.45 TACC2 0 genome.wustl.edu 37 10 123971221 123971221 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 10 123971221 123971221 G T SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.7281 p.K2427N 1.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 69 0 0.00 76 4 5.00 TBC1D1 0 genome.wustl.edu 37 4 38138900 38138900 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 38138900 38138900 G A SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known missense c.3451 p.A1151T 0.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 29 0 0.00 28 3 9.68 TBC1D8 0 genome.wustl.edu 37 2 101654015 101654015 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 101654015 101654015 G A SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known silent c.1431 p.S477 0.140 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 60 0 0.00 61 5 7.58 TBR1 0 genome.wustl.edu 37 2 162280635 162280635 + Missense_Mutation SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 162280635 162280635 A G SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known missense c.1946 p.E649G 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 tier1 - - 60 0 0.00 45 35 43.75 TCEB3CL2 0 genome.wustl.edu 37 18 44543316 44543316 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 18 44543316 44543316 G A SNP TCEB3CL2 ENST00000591973 human ensembl 74_37 -1 known silent c.1056 p.L352 0.001 pfam_RNA_pol_II_trans_fac_SIII_A pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3CL2 HGNC ENSG00000266996 tier1 - - 98 0 0.00 19 19 50.00 TEAD3 0 genome.wustl.edu 37 6 35443840 35443840 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 35443840 35443840 G T SNP TEAD3 ENST00000402886 human ensembl 74_37 -1 novel silent c.576 p.G192 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,pirsf_TEF - no_errors TEAD3 HGNC ENSG00000007866 57 0 0.00 74 5 6.33 TESK2 0 genome.wustl.edu 37 1 45809610 45809610 + RNA DEL A A - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 45809610 45809610 A - DEL TESK2 ENST00000486676 human ensembl 74_37 -1 known rna NULL NULL 0.794 - - - no_errors TESK2 HGNC ENSG00000070759 tier1 31 0 0.00 66 13 16.46 THADA 0 genome.wustl.edu 37 2 43519252 43519252 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 43519252 43519252 G T SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.4928 p.S1643Y 1.000 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 23 0 0.00 57 4 6.56 TMEM131 0 genome.wustl.edu 37 2 98377144 98377144 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 98377144 98377144 C A SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.5020 p.G1674C 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 47 0 0.00 71 4 5.33 TMEM145 0 genome.wustl.edu 37 19 42821921 42821921 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 42821921 42821921 G T SNP TMEM145 ENST00000301204 human ensembl 74_37 +1 known nonsense c.961 p.G321* 1.000 pfam_Intimal_thickness-rel_rcpt pfam_Intimal_thickness-rel_rcpt - no_errors TMEM145 HGNC ENSG00000167619 65 0 0.00 49 3 5.77 TMEM225 0 genome.wustl.edu 37 11 123755245 123755245 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 123755245 123755245 G T SNP TMEM225 ENST00000375026 human ensembl 74_37 -1 known missense c.280 p.Q94K 0.155 NULL NULL - no_errors TMEM225 HGNC ENSG00000204300 43 0 0.00 34 3 8.11 TMEM55B 0 genome.wustl.edu 37 14 20927414 20927414 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 14 20927414 20927414 C T SNP TMEM55B ENST00000398020 human ensembl 74_37 -1 known missense c.662 p.C221Y 1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55B HGNC ENSG00000165782 37 0 0.00 44 3 6.38 TMEM97 0 genome.wustl.edu 37 17 26653806 26653807 + Frame_Shift_Ins INS - - A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 26653806 26653807 0 A INS TMEM97 ENST00000226230 human ensembl 74_37 +1 known frame_shift_ins c.518_519 p.K177fs 1.000:1.000 NULL pfam_Transmembrane_6/97,pirsf_Transmembrane_6/97 - no_errors TMEM97 HGNC ENSG00000109084 15 0 0.00 72 6 7.69 TNFRSF11A 0 genome.wustl.edu 37 18 60035976 60035976 + Missense_Mutation SNP T T C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 18 60035976 60035976 T C SNP TNFRSF11A ENST00000586569 human ensembl 74_37 +1 known missense c.826 p.F276L 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11 - no_errors TNFRSF11A HGNC ENSG00000141655 tier1 - - 19 0 0.00 16 4 19.05 TNFSF15 0 genome.wustl.edu 37 9 117568161 117568161 + Silent SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 117568161 117568161 G T SNP TNFSF15 ENST00000374045 human ensembl 74_37 -1 known silent c.132 p.L44 0.001 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF15 HGNC ENSG00000181634 58 0 0.00 57 4 6.56 TP53 0 genome.wustl.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 7577121 7577121 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.817 p.R273C 0.830 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121913343 - 29 0 0.00 5 24 82.76 TP53TG1 0 genome.wustl.edu 37 7 86974668 86974668 + RNA SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 86974668 86974668 G T SNP TP53TG1 ENST00000359941 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TP53TG1 HGNC ENSG00000182165 tier1 - - 73 0 0.00 72 8 10.00 TPTE 0 genome.wustl.edu 37 21 10906741 10906741 + RNA SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 21 10906741 10906741 T G SNP TPTE ENST00000415664 human ensembl 74_37 -1 known rna NULL NULL 0.085 - - - no_errors TPTE HGNC ENSG00000166157 tier1 rs3742162 - 16 0 0.00 19 21 52.50 TREX1 0 genome.wustl.edu 37 3 48508479 48508479 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 3 48508479 48508479 G T SNP TREX1 ENST00000422277 human ensembl 74_37 +1 known missense c.590 p.G197V 0.989 superfamily_RNaseH-like_dom,smart_Exonuclease superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors TREX1 HGNC ENSG00000213689 16 0 0.00 33 4 10.81 TRIM49B 0 genome.wustl.edu 37 11 49059149 49059149 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 49059149 49059149 A C SNP TRIM49B ENST00000332682 human ensembl 74_37 +1 known missense c.979 p.S327R 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49B HGNC ENSG00000182053 tier1 - - 117 0 0.00 169 95 35.98 TRPM3 0 genome.wustl.edu 37 9 73152282 73152282 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 9 73152282 73152282 C A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.3792 p.E1264D 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 60 0 0.00 54 3 5.26 TSLP 0 genome.wustl.edu 37 5 110411739 110411739 + Silent SNP T T G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 110411739 110411739 T G SNP TSLP ENST00000344895 human ensembl 74_37 +1 known silent c.447 p.R149 0.000 NULL NULL - no_errors TSLP HGNC ENSG00000145777 tier1 - - 14 0 0.00 11 43 79.63 TTC37 0 genome.wustl.edu 37 5 94820496 94820496 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 94820496 94820496 G T SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.3985 p.L1329I 0.976 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 tier1 - - 39 0 0.00 41 4 8.89 TTN 0 genome.wustl.edu 37 2 179407890 179407890 + Silent SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 179407890 179407890 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.89106 p.G29702 0.401 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 - - 43 0 0.00 41 17 29.31 TTN 0 genome.wustl.edu 37 2 179583141 179583141 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 179583141 179583141 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.20960 p.L6987R 0.040 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 24 0 0.00 22 10 31.25 TUBA3C 0 genome.wustl.edu 37 13 19748208 19748208 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 13 19748208 19748208 G A SNP TUBA3C ENST00000400113 human ensembl 74_37 -1 known missense c.1148 p.A383V 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3C HGNC ENSG00000198033 tier1 - - 90 0 0.00 92 17 15.60 UBR1 0 genome.wustl.edu 37 15 43294822 43294822 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 43294822 43294822 C A SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known missense c.3590 p.C1197F 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 tier1 - - 37 0 0.00 63 4 5.97 UGGT1 0 genome.wustl.edu 37 2 128878801 128878801 + Missense_Mutation SNP C C G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 128878801 128878801 C G SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.1002 p.I334M 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 - - 27 0 0.00 37 38 50.67 UNC13C 0 genome.wustl.edu 37 15 54590124 54590124 + Silent SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 54590124 54590124 G A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.4104 p.E1368 1.000 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 20 0 0.00 20 12 36.36 USP8 0 genome.wustl.edu 37 15 50785016 50785016 + Missense_Mutation SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 15 50785016 50785016 A G SNP USP8 ENST00000307179 human ensembl 74_37 +1 known missense c.2353 p.T785A 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 25 0 0.00 35 6 14.63 USP9Y 0 genome.wustl.edu 37 Y 14954277 14954277 + Silent SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 Y 14954277 14954277 C T SNP USP9Y ENST00000338981 human ensembl 74_37 +1 known silent c.6324 p.C2108 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 tier1 - - 25 0 0.00 18 3 14.29 UTP23 0 genome.wustl.edu 37 8 117798811 117798811 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 8 117798811 117798811 G T SNP UTP23 ENST00000357148 human ensembl 74_37 +1 known missense c.433 p.G145C 0.055 NULL pfam_Fcf1/Utp23 - no_errors UTP23 HGNC ENSG00000147679 tier1 - - 46 0 0.00 69 4 5.48 UTRN 0 genome.wustl.edu 37 6 145079167 145079167 + RNA SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 145079167 145079167 A G SNP UTRN ENST00000480333 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors UTRN HGNC ENSG00000152818 tier1 - - 28 0 0.00 9 19 67.86 WBSCR17 0 genome.wustl.edu 37 7 70597949 70597949 + Missense_Mutation SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 70597949 70597949 A G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.161 p.H54R 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 26 0 0.00 3 9 75.00 WBSCR17 0 genome.wustl.edu 37 7 70886066 70886066 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 70886066 70886066 G A SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.937 p.A313T 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 70 0 0.00 34 2 5.41 WDR55 0 genome.wustl.edu 37 5 140047990 140047990 + Frame_Shift_Del DEL T T - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 140047990 140047990 T - DEL WDR55 ENST00000506393 human ensembl 74_37 +1 known frame_shift_del c.363 p.Q124fs 0.101 NULL NULL - no_errors WDR55 HGNC ENSG00000120314 tier1 37 0 0.00 35 2 5.41 WWP1 0 genome.wustl.edu 37 8 87473462 87473462 + Nonsense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 8 87473462 87473462 G T SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known nonsense c.2509 p.E837* 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors WWP1 HGNC ENSG00000123124 26 0 0.00 57 3 5.00 XDH 0 genome.wustl.edu 37 2 31560560 31560560 + Missense_Mutation SNP G G A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 2 31560560 31560560 G A SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.3898 p.P1300S 1.000 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 53 0 0.00 57 3 5.00 YTHDC1 0 genome.wustl.edu 37 4 69198527 69198527 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 4 69198527 69198527 G T SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.1012 p.R338S 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 33 0 0.00 56 3 5.08 YWHAZ 0 genome.wustl.edu 37 8 101936481 101936481 + Missense_Mutation SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 8 101936481 101936481 A G SNP YWHAZ ENST00000353245 human ensembl 74_37 -1 known missense c.464 p.I155T 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAZ HGNC ENSG00000164924 tier1 - - 26 0 0.00 61 20 24.69 ZBTB1 0 genome.wustl.edu 37 14 64988318 64988318 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 14 64988318 64988318 C A SNP ZBTB1 ENST00000394712 human ensembl 74_37 +1 known missense c.96 p.D32E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 - - 25 0 0.00 29 4 12.12 ZC3H12C 0 genome.wustl.edu 37 11 110007878 110007878 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 11 110007878 110007878 A C SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known missense c.512 p.K171T 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 tier1 - - 31 0 0.00 10 20 66.67 ZCCHC16 0 genome.wustl.edu 37 X 111698082 111698082 + Silent SNP A A G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 X 111698082 111698082 A G SNP ZCCHC16 ENST00000340433 human ensembl 74_37 +1 known silent c.126 p.Q42 0.001 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC16 HGNC ENSG00000187823 tier1 - - 21 0 0.00 10 23 69.70 ZFHX3 0 genome.wustl.edu 37 16 73092841 73092843 + RNA DEL GGA GGA - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 16 73092841 73092843 GGA - DEL ZFHX3 ENST00000558842 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors ZFHX3 HGNC ENSG00000140836 tier1 11 0 0.00 2 2 50.00 ZFP2 0 genome.wustl.edu 37 5 178359431 178359431 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 5 178359431 178359431 C A SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known missense c.1117 p.Q373K 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 tier1 - - 38 0 0.00 51 4 7.27 ZMYM4 0 genome.wustl.edu 37 1 35859302 35859302 + Missense_Mutation SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 1 35859302 35859302 C T SNP ZMYM4 ENST00000314607 human ensembl 74_37 +1 known missense c.2873 p.S958F 0.988 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 tier1 - - 49 0 0.00 65 48 42.48 ZNF257 0 genome.wustl.edu 37 19 22270892 22270892 + Silent SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 22270892 22270892 A C SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known silent c.340 p.R114 0.005 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 ZNF257 HGNC ENSG00000197134 tier1 - - 62 0 0.00 12 60 82.19 ZNF271 0 genome.wustl.edu 37 18 32887284 32887284 + RNA SNP C C T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 18 32887284 32887284 C T SNP ZNF271 ENST00000399070 human ensembl 74_37 +1 known rna NULL NULL 0.086 - - - no_errors ZNF271 HGNC ENSG00000257267 tier1 - - 33 0 0.00 12 23 65.71 ZNF287 0 genome.wustl.edu 37 17 16456371 16456371 + Missense_Mutation SNP A A C TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 16456371 16456371 A C SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known missense c.1085 p.L362R 0.914 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 ZNF287 HGNC ENSG00000141040 tier1 - - 22 0 0.00 8 18 69.23 ZNF425 0 genome.wustl.edu 37 7 148809229 148809229 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 7 148809229 148809229 C A SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.304 p.D102Y 0.030 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 tier1 - - 32 0 0.00 47 4 7.84 ZNF536 0 genome.wustl.edu 37 19 30935745 30935745 + Missense_Mutation SNP C C A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 30935745 30935745 C A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1276 p.L426M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 51 0 0.00 58 4 6.45 ZNF624 0 genome.wustl.edu 37 17 16525650 16525650 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 17 16525650 16525650 G T SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.2550 p.S850R 1.000 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 ZNF624 HGNC ENSG00000197566 35 0 0.00 49 3 5.77 ZNF676 0 genome.wustl.edu 37 19 22363736 22363736 + Silent SNP T T A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 22363736 22363736 T A SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known silent c.783 p.G261 0.028 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 28 0 0.00 33 5 13.16 ZNF676 0 genome.wustl.edu 37 19 22363737 22363737 + Missense_Mutation SNP C C G TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 22363737 22363737 C G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.782 p.G261A 0.018 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 28 0 0.00 33 5 13.16 ZNF676 0 genome.wustl.edu 37 19 22363727 22363727 + Missense_Mutation SNP G G T TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 22363727 22363727 G T SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.792 p.S264R 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 29 0 0.00 29 2 6.45 ZNF682 0 genome.wustl.edu 37 19 20135200 20135200 + Frame_Shift_Del DEL A A - TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 19 20135200 20135200 A - DEL ZNF682 ENST00000597972 human ensembl 74_37 -1 putative frame_shift_del c.7 p.C3fs 0.362 superfamily_Krueppel-associated_box 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 ZNF682 HGNC ENSG00000197124 tier1 24 0 0.00 23 2 8.00 ZSCAN23 0 genome.wustl.edu 37 6 28402405 28402405 + Missense_Mutation SNP T T A TCGA-JY-A6FH-01A-11D-A33E-09 TCGA-JY-A6FH-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9a39b1d4-93ab-4208-9e29-10a436923ba6 e5e357da-c78e-466e-b581-75c3ff015527 6 28402405 28402405 T A SNP ZSCAN23 ENST00000289788 human ensembl 74_37 -1 known missense c.1007 p.N336I 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ENSG00000187987 tier1 - - 40 0 0.00 32 27 45.76