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 ABCB11 0 genome.wustl.edu 37 2 169814554 169814554 + Missense_Mutation SNP T T C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 169814554 169814554 T C SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.2263 p.M755V 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 tier1 - - 44 0 0.00 8 13 61.90 ABTB1 0 genome.wustl.edu 37 3 127396666 127396666 + Missense_Mutation SNP A A G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 127396666 127396666 A G SNP ABTB1 ENST00000232744 human ensembl 74_37 +1 known missense c.1009 p.M337V 0.925 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 12 0 0.00 7 3 30.00 ACCS 0 genome.wustl.edu 37 11 44095006 44095006 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 44095006 44095006 C T SNP ACCS ENST00000263776 human ensembl 74_37 +1 known missense c.358 p.R120C 0.633 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 36 0 0.00 23 3 11.54 ACHE 0 genome.wustl.edu 37 7 100490407 100490407 + Silent SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 7 100490407 100490407 C T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known silent c.1101 p.S367 0.998 pfam_CarbesteraseB,prints_Cholinesterase pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 tier1 rs138349745 - 71 0 0.00 41 8 16.33 ACSF2 0 genome.wustl.edu 37 17 48538652 48538652 + Missense_Mutation SNP A A G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 17 48538652 48538652 A G SNP ACSF2 ENST00000300441 human ensembl 74_37 +1 known missense c.374 p.D125G 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 tier1 - - 31 0 0.00 4 30 88.24 ACSS2 0 genome.wustl.edu 37 20 33515093 33515093 + RNA SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 20 33515093 33515093 G A SNP ACSS2 ENST00000476922 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ACSS2 HGNC ENSG00000131069 tier1 - - 12 0 0.00 7 8 53.33 ADIRF-AS1 0 genome.wustl.edu 37 10 88728230 88728230 + RNA SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 10 88728230 88728230 G A SNP ADIRF-AS1 ENST00000609111 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADIRF-AS1 HGNC ENSG00000272734 tier1 - - 21 0 0.00 20 5 20.00 AGMO 0 genome.wustl.edu 37 7 15425155 15425155 + Silent SNP A A T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 7 15425155 15425155 A T SNP AGMO ENST00000342526 human ensembl 74_37 -1 known silent c.990 p.S330 0.000 NULL pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 tier1 - - 74 0 0.00 62 4 6.06 AGPAT3 0 genome.wustl.edu 37 21 45401010 45401010 + Silent SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 21 45401010 45401010 C T SNP AGPAT3 ENST00000291572 human ensembl 74_37 +1 known silent c.984 p.G328 0.032 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT3 HGNC ENSG00000160216 44 0 0.00 14 2 12.50 ALX1 0 genome.wustl.edu 37 12 85695015 85695015 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 12 85695015 85695015 G A SNP ALX1 ENST00000316824 human ensembl 74_37 +1 known missense c.743 p.C248Y 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX1 HGNC ENSG00000180318 tier1 - - 87 0 0.00 39 12 23.53 AMPH 0 genome.wustl.edu 37 7 38670935 38670935 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 7 38670935 38670935 G A SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.17 p.T6M 1.000 prints_Amphiphysin_1 pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 tier1 - - 21 0 0.00 11 29 72.50 ANKRD13D 0 genome.wustl.edu 37 11 67059125 67059125 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 67059125 67059125 G A SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known missense c.449 p.R150Q 1.000 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 tier1 - - 43 0 0.00 6 50 89.29 ANKRD36 0 genome.wustl.edu 37 2 97866239 97866239 + Missense_Mutation SNP A A T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 97866239 97866239 A T SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.2834 p.K945M 0.075 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 tier1 - - 332 0 0.00 337 50 12.89 ANKZF1 0 genome.wustl.edu 37 2 220101063 220101063 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 220101063 220101063 G A SNP ANKZF1 ENST00000323348 human ensembl 74_37 +1 known missense c.2077 p.A693T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKZF1 HGNC ENSG00000163516 tier1 - - 61 0 0.00 69 4 5.48 ANTXRL 0 genome.wustl.edu 37 10 47701302 47701302 + Frame_Shift_Del DEL G G - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 10 47701302 47701302 G - DEL ANTXRL ENST00000537271 human ensembl 74_37 +1 known frame_shift_del c.1658 p.R553fs 0.000 NULL pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXRL HGNC ENSG00000198250 tier1 35 0 0.00 15 2 11.76 APOBEC3H 0 genome.wustl.edu 37 22 39497275 39497275 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 22 39497275 39497275 G A SNP APOBEC3H ENST00000442487 human ensembl 74_37 +1 known missense c.184 p.E62K 0.000 pfam_APOBEC_N,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors APOBEC3H HGNC ENSG00000100298 tier1 - - 41 0 0.00 19 4 17.39 ARHGAP21 0 genome.wustl.edu 37 10 24884972 24884972 + Missense_Mutation SNP A A G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 10 24884972 24884972 A G SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.3478 p.Y1160H 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 19 0 0.00 29 3 9.38 ARHGAP28 0 genome.wustl.edu 37 18 6876132 6876132 + Missense_Mutation SNP T T G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 18 6876132 6876132 T G SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.1215 p.F405L 0.995 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 48 0 0.00 34 2 5.56 ASB5 0 genome.wustl.edu 37 4 177136878 177136878 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 4 177136878 177136878 G T SNP ASB5 ENST00000296525 human ensembl 74_37 -1 known missense c.863 p.A288D 1.000 pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB5 HGNC ENSG00000164122 tier1 - - 56 0 0.00 8 6 42.86 ATG2B 0 genome.wustl.edu 37 14 96788614 96788614 + RNA DEL A A - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 14 96788614 96788614 A - DEL ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATG2B HGNC ENSG00000066739 tier1 39 0 0.00 28 2 6.67 BBS2 0 genome.wustl.edu 37 16 56531752 56531752 + Missense_Mutation SNP A A G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 16 56531752 56531752 A G SNP BBS2 ENST00000245157 human ensembl 74_37 -1 known missense c.1700 p.I567T 1.000 pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 tier1 - - 26 0 0.00 7 26 78.79 BCAR1 0 genome.wustl.edu 37 16 75263905 75263905 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 16 75263905 75263905 C T SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.2255 p.R752Q 0.994 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 tier1 - - 45 0 0.00 22 8 26.67 C11orf80 0 genome.wustl.edu 37 11 66512290 66512291 + In_Frame_Ins INS - - GGC TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 66512290 66512291 - GGC INS C11orf80 ENST00000360962 human ensembl 74_37 +1 known in_frame_ins c.77_78 p.30in_frame_insA 0.001:0.003 NULL NULL - no_errors C11orf80 HGNC ENSG00000173715 tier1 15 0 0.00 13 9 40.91 C12orf40 0 genome.wustl.edu 37 12 40044041 40044041 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 12 40044041 40044041 C T SNP C12orf40 ENST00000324616 human ensembl 74_37 +1 known missense c.571 p.R191C 0.804 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 tier1 - - 61 0 0.00 35 6 14.63 C19orf81 0 genome.wustl.edu 37 19 51159549 51159549 + Silent SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 51159549 51159549 G A SNP C19orf81 ENST00000425202 human ensembl 74_37 +1 known silent c.207 p.R69 0.945 NULL NULL - no_errors C19orf81 HGNC ENSG00000235034 tier1 - - 33 0 0.00 18 6 24.00 C1orf168 0 genome.wustl.edu 37 1 57216857 57216857 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 57216857 57216857 G T SNP C1orf168 ENST00000343433 human ensembl 74_37 -1 known missense c.1247 p.T416K 0.018 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 tier1 - - 33 0 0.00 33 4 10.81 C5orf42 0 genome.wustl.edu 37 5 37224379 37224380 + Frame_Shift_Ins INS - - T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 5 37224379 37224380 - T INS C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_ins c.2557_2556 p.A852fs 0.994:0.991 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 53 0 0.00 37 31 45.59 CABP1 0 genome.wustl.edu 37 12 121098879 121098879 + Silent SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 12 121098879 121098879 C T SNP CABP1 ENST00000316803 human ensembl 74_37 +1 known silent c.945 p.D315 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP1 HGNC ENSG00000157782 tier1 - - 45 0 0.00 8 22 73.33 CARD10 0 genome.wustl.edu 37 22 37906373 37906373 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 22 37906373 37906373 C T SNP CARD10 ENST00000251973 human ensembl 74_37 -1 known missense c.755 p.R252Q 0.993 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 38 0 0.00 6 2 25.00 CCR6 0 genome.wustl.edu 37 6 167550105 167550105 + Silent SNP T T C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 6 167550105 167550105 T C SNP CCR6 ENST00000341935 human ensembl 74_37 +1 known silent c.387 p.F129 0.889 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR_1/2 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR6,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CXCR_1/2 - no_errors CCR6 HGNC ENSG00000112486 tier1 - - 19 0 0.00 5 3 37.50 CD27 0 genome.wustl.edu 37 12 6554291 6554291 + Silent SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 12 6554291 6554291 C T SNP CD27 ENST00000266557 human ensembl 74_37 +1 known silent c.30 p.C10 0.512 prints_TNFR_7 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_7,prints_Fas_rcpt - no_errors CD27 HGNC ENSG00000139193 52 0 0.00 61 4 6.15 CD86 0 genome.wustl.edu 37 3 121822413 121822413 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 121822413 121822413 G T SNP CD86 ENST00000330540 human ensembl 74_37 +1 known missense c.119 p.C40F 0.735 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD86 HGNC ENSG00000114013 77 0 0.00 55 3 5.17 CDC27 0 genome.wustl.edu 37 17 45249404 45249404 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 17 45249404 45249404 G T SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.130 p.L44M 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 tier1 - - 35 0 0.00 21 3 12.50 CELSR1 0 genome.wustl.edu 37 22 46859657 46859657 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 22 46859657 46859657 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.4130 p.R1377H 0.967 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 tier1 - - 56 0 0.00 19 26 57.78 CELSR2 0 genome.wustl.edu 37 1 109816993 109816993 + RNA DEL T T - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 109816993 109816993 T - DEL CELSR2 ENST00000498157 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CELSR2 HGNC ENSG00000143126 tier1 76 0 0.00 43 4 8.51 CFTR 0 genome.wustl.edu 37 7 117235062 117235062 + Frame_Shift_Del DEL A A - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 7 117235062 117235062 A - DEL CFTR ENST00000003084 human ensembl 74_37 +1 known frame_shift_del c.2569 p.K857fs 1.000 superfamily_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 73 0 0.00 88 18 16.98 CNGA3 0 genome.wustl.edu 37 2 99012723 99012723 + Frame_Shift_Del DEL A A - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 99012723 99012723 A - DEL CNGA3 ENST00000272602 human ensembl 74_37 +1 known frame_shift_del c.1090 p.T364fs 1.000 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 tier1 53 0 0.00 11 2 15.38 CNN3 0 genome.wustl.edu 37 1 95369076 95369076 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 95369076 95369076 G T SNP CNN3 ENST00000370206 human ensembl 74_37 -1 known missense c.62 p.A21D 1.000 superfamily_CH-domain pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN3 HGNC ENSG00000117519 tier1 - - 60 0 0.00 17 3 15.00 CNTN1 0 genome.wustl.edu 37 12 41353009 41353009 + Missense_Mutation SNP T T C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 12 41353009 41353009 T C SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.1777 p.S593P 0.972 pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 - - 56 0 0.00 43 4 8.51 CNTN5 0 genome.wustl.edu 37 11 100061915 100061915 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 100061915 100061915 G T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.1638 p.E546D 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,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 CNTN5 HGNC ENSG00000149972 132 0 0.00 51 4 7.27 CPXM1 0 genome.wustl.edu 37 20 2774891 2774891 + Frame_Shift_Del DEL T T - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 20 2774891 2774891 T - DEL CPXM1 ENST00000380605 human ensembl 74_37 -1 known frame_shift_del c.2150 p.K717fs 0.952 superfamily_CarboxyPept-like_regulatory pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC ENSG00000088882 tier1 32 0 0.00 25 2 7.41 CPXM2 0 genome.wustl.edu 37 10 125506371 125506371 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 10 125506371 125506371 C T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.2180 p.R727Q 0.640 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 43 0 0.00 24 2 7.69 CSF2RB 0 genome.wustl.edu 37 22 37334389 37334389 + Nonsense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 22 37334389 37334389 G T SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known nonsense c.2557 p.E853* 0.022 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 76 0 0.00 47 3 6.00 CSMD1 0 genome.wustl.edu 37 8 2975919 2975919 + Splice_Site SNP A A T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 8 2975919 2975919 A T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known splice_site c.6433+2 e43+2 1.000 - - - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 78 0 0.00 40 19 32.20 CUX1 0 genome.wustl.edu 37 7 101840007 101840007 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 7 101840007 101840007 G A SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.1349 p.G450E 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 tier1 - - 75 0 0.00 45 6 11.54 DAPK1 0 genome.wustl.edu 37 9 90322121 90322121 + Frame_Shift_Del DEL A A - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 9 90322121 90322121 A - DEL DAPK1 ENST00000469640 human ensembl 74_37 +1 known frame_shift_del c.4210 p.K1404fs 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 tier1 43 0 0.00 12 2 14.29 DCBLD2 0 genome.wustl.edu 37 3 98620070 98620070 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 98620070 98620070 C T SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known missense c.101 p.R34H 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 tier1 - - 23 0 0.00 10 7 41.18 DDX19B 0 genome.wustl.edu 37 16 70363251 70363251 + Silent SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 16 70363251 70363251 C T SNP DDX19B ENST00000288071 human ensembl 74_37 +1 known silent c.664 p.L222 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19B HGNC ENSG00000157349 98 0 0.00 73 4 5.19 DENND3 0 genome.wustl.edu 37 8 142204174 142204174 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 8 142204174 142204174 G T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.3439 p.G1147W 1.000 superfamily_WD40_repeat_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 51 0 0.00 32 2 5.88 DHX29 0 genome.wustl.edu 37 5 54579423 54579423 + Frame_Shift_Del DEL C C - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 5 54579423 54579423 C - DEL DHX29 ENST00000251636 human ensembl 74_37 -1 known frame_shift_del c.1573 p.E525fs 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 tier1 57 0 0.00 21 2 8.70 DMXL2 0 genome.wustl.edu 37 15 51773255 51773255 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 51773255 51773255 G T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.6048 p.D2016E 0.813 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 tier1 - - 55 0 0.00 65 4 5.80 DNAH5 0 genome.wustl.edu 37 5 13737516 13737516 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 5 13737516 13737516 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11300 p.R3767H 0.985 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 tier1 rs138838869 - 91 0 0.00 79 23 22.55 DNAH6 0 genome.wustl.edu 37 2 84785000 84785000 + Missense_Mutation SNP A A C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 84785000 84785000 A C SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known missense c.1744 p.S582R 0.992 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 tier1 - - 65 0 0.00 60 37 37.76 DUOX2 0 genome.wustl.edu 37 15 45386802 45386803 + Frame_Shift_Ins INS - - G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 45386802 45386803 - G INS DUOX2 ENST00000389039 human ensembl 74_37 -1 known frame_shift_ins c.4483_4482 p.F1494fs 1.000:0.997 pfam_Fe_red_NAD-bd_6 pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 tier1 80 0 0.00 24 2 7.69 DYNC2H1 0 genome.wustl.edu 37 11 103047022 103047022 + Silent SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 103047022 103047022 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.5733 p.T1911 0.991 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 tier1 - - 83 0 0.00 13 25 65.79 EFTUD1P1 0 genome.wustl.edu 37 15 84753004 84753004 + RNA SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 84753004 84753004 C T SNP EFTUD1P1 ENST00000558187 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors EFTUD1P1 HGNC ENSG00000259404 83 0 0.00 76 4 5.00 EHMT1 0 genome.wustl.edu 37 9 140707604 140707604 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 9 140707604 140707604 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.3014 p.P1005L 0.008 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 47 0 0.00 68 4 5.56 ENSG00000214347 0 genome.wustl.edu 37 19 6411866 6411866 + RNA SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 6411866 6411866 G A SNP ENSG00000214347 ENST00000398173 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors CTB-180A7.8 Clone_based_vega_gene ENSG00000214347 tier1 - - 49 0 0.00 16 8 33.33 ENSG00000222334 0 genome.wustl.edu 37 8 78199114 78199133 + RNA DEL CAGGGGGAACTGGGAGCATT CAGGGGGAACTGGGAGCATT - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 CAGGGGGAACTGGGAGCATT CAGGGGGAACTGGGAGCATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 8 78199114 78199133 CAGGGGGAACTGGGAGCATT 0 DEL ENSG00000222334 ENST00000410402 human ensembl 74_37 +1 novel rna NULL NULL 0.006:0.006:0.004:0.003:0.002:0.001:0.002:0.005:0.008:0.016:0.022:0.026:0.030:0.032:0.032:0.032:0.031:0.028:0.024:0.018 - - - no_errors AC105242.1 Clone_based_ensembl_gene ENSG00000222334 16 0 0.00 4 2 33.33 ENSG00000251031 0 genome.wustl.edu 37 5 144608356 144608356 + RNA SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 5 144608356 144608356 C T SNP ENSG00000251031 ENST00000504204 human ensembl 74_37 -1 known rna NULL NULL 0.261 - - - no_errors CTC-367F4.1 Clone_based_vega_gene ENSG00000251031 tier1 - - 36 0 0.00 12 3 20.00 ENSG00000261096 0 genome.wustl.edu 37 2 232677017 232677018 + RNA INS - - A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 232677017 232677018 - A INS ENSG00000261096 ENST00000563949 human ensembl 74_37 +1 known rna NULL NULL 0.014:0.017 - - - no_errors RP11-690I21.2 Clone_based_vega_gene ENSG00000261096 tier1 23 0 0.00 17 5 22.73 ENSG00000261759 0 genome.wustl.edu 37 16 19132177 19132177 + RNA SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 16 19132177 19132177 C T SNP ENSG00000261759 ENST00000567236 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-626G11.3 Clone_based_vega_gene ENSG00000261759 tier1 - - 63 0 0.00 31 7 18.42 ENSG00000261759 0 genome.wustl.edu 37 16 19132482 19132482 + RNA SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 16 19132482 19132482 G T SNP ENSG00000261759 ENST00000567236 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-626G11.3 Clone_based_vega_gene ENSG00000261759 tier1 - - 44 0 0.00 20 15 41.67 ENSG00000261759 0 genome.wustl.edu 37 16 19132483 19132483 + RNA SNP A A T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 16 19132483 19132483 A T SNP ENSG00000261759 ENST00000567236 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-626G11.3 Clone_based_vega_gene ENSG00000261759 tier1 - - 45 0 0.00 20 16 44.44 ENSG00000267105 0 genome.wustl.edu 37 19 10369804 10369804 + RNA DEL T T - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 10369804 10369804 T - DEL ENSG00000267105 ENST00000587088 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2369P2.4 Clone_based_vega_gene ENSG00000267105 tier1 23 0 0.00 4 2 33.33 ENTPD5 0 genome.wustl.edu 37 14 74433702 74433702 + Missense_Mutation SNP T T C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 14 74433702 74433702 T C SNP ENTPD5 ENST00000334696 human ensembl 74_37 -1 known missense c.1216 p.N406D 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD5 HGNC ENSG00000187097 tier1 - - 43 0 0.00 15 8 34.78 EPAS1 0 genome.wustl.edu 37 2 46583907 46583907 + Silent SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 46583907 46583907 C T SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known silent c.414 p.C138 0.981 pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS,tigrfam_PAS pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 tier1 - - 64 0 0.00 39 4 9.30 EPHA10 0 genome.wustl.edu 37 1 38197200 38197200 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 38197200 38197200 C T SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.1546 p.V516I 0.982 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 38 0 0.00 31 2 6.06 EPHA7 0 genome.wustl.edu 37 6 93965557 93965557 + Missense_Mutation SNP A A G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 6 93965557 93965557 A G SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.2371 p.Y791H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 61 0 0.00 3 14 82.35 EPHA7 0 genome.wustl.edu 37 6 93965558 93965558 + Silent SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 6 93965558 93965558 G A SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known silent c.2370 p.V790 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 61 0 0.00 3 14 82.35 ERBB4 0 genome.wustl.edu 37 2 212285327 212285327 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 212285327 212285327 G T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2974 p.R992S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 40 0 0.00 31 2 6.06 EXO1 0 genome.wustl.edu 37 1 242052807 242052807 + Missense_Mutation SNP C C A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 242052807 242052807 C A SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.2446 p.P816T 1.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 59 0 0.00 31 2 6.06 F11 0 genome.wustl.edu 37 4 187192834 187192834 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 4 187192834 187192834 G A SNP F11 ENST00000403665 human ensembl 74_37 +1 known missense c.127 p.A43T 0.012 pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors F11 HGNC ENSG00000088926 79 0 0.00 17 2 10.53 FAM134A 0 genome.wustl.edu 37 2 220043663 220043663 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 220043663 220043663 C T SNP FAM134A ENST00000430297 human ensembl 74_37 +1 known missense c.301 p.L101F 1.000 pfam_Reticulon pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 tier1 - - 47 0 0.00 29 10 25.64 FAM230B 0 genome.wustl.edu 37 22 21538269 21538269 + RNA SNP C C G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 22 21538269 21538269 C G SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 - - 32 0 0.00 38 5 11.63 FBXO11 0 genome.wustl.edu 37 2 48132691 48132693 + In_Frame_Del DEL GCT GCT - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 48132691 48132693 GCT 0 DEL FBXO11 ENST00000403359 human ensembl 74_37 -1 known in_frame_del c.169_167 p.Q56in_frame_del 0.983:0.981:0.972 NULL pfam_Znf_N-recognin,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,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 8 0 0.00 7 2 22.22 FBXO45 0 genome.wustl.edu 37 3 196311080 196311080 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 196311080 196311080 G T SNP FBXO45 ENST00000311630 human ensembl 74_37 +1 known missense c.752 p.G251V 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_F-box_dom,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom,smart_F-box_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom - no_errors FBXO45 HGNC ENSG00000174013 tier1 - - 38 0 0.00 15 3 16.67 FCGR2B 0 genome.wustl.edu 37 1 161641441 161641441 + Splice_Site SNP T T C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 161641441 161641441 T C SNP FCGR2B ENST00000358671 human ensembl 74_37 +1 known splice_site c.391+2 e3+2 0.995 - - - no_errors FCGR2B HGNC ENSG00000072694 tier1 - - 81 0 0.00 86 56 39.44 FITM1 0 genome.wustl.edu 37 14 24601848 24601848 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 14 24601848 24601848 G T SNP FITM1 ENST00000267426 human ensembl 74_37 +1 known missense c.695 p.W232L 1.000 pfam_FIT pfam_FIT - no_errors FITM1 HGNC ENSG00000139914 38 0 0.00 57 4 6.56 FRAS1 0 genome.wustl.edu 37 4 79295323 79295323 + Silent SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 4 79295323 79295323 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known silent c.3069 p.G1023 0.123 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 97 0 0.00 38 4 9.52 FRMD4A 0 genome.wustl.edu 37 10 13838554 13838554 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 10 13838554 13838554 C T SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known missense c.241 p.V81I 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 tier1 - - 54 0 0.00 29 5 14.29 FRMD4B 0 genome.wustl.edu 37 3 69242853 69242853 + Nonsense_Mutation SNP C C A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 69242853 69242853 C A SNP FRMD4B ENST00000398540 human ensembl 74_37 -1 known nonsense c.1660 p.E554* 1.000 NULL pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4B HGNC ENSG00000114541 tier1 - - 77 0 0.00 37 8 17.78 FUS 0 genome.wustl.edu 37 16 31199660 31199660 + Nonsense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 16 31199660 31199660 G T SNP FUS ENST00000254108 human ensembl 74_37 +1 known nonsense c.814 p.G272* 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 tier1 - - 16 0 0.00 7 4 36.36 GABRA3 0 genome.wustl.edu 37 X 151419621 151419621 + RNA SNP T T A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a X 151419621 151419621 T A SNP GABRA3 ENST00000417858 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors GABRA3 HGNC ENSG00000011677 tier1 - - 30 0 0.00 11 18 62.07 GADD45B 0 genome.wustl.edu 37 19 2477067 2477069 + In_Frame_Del DEL GAG GAG - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 2477067 2477069 GAG - DEL GADD45B ENST00000215631 human ensembl 74_37 +1 known in_frame_del c.187_189 p.E66in_frame_del 1.000:1.000:1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors GADD45B HGNC ENSG00000099860 tier1 39 0 0.00 10 2 16.67 GATA3 0 genome.wustl.edu 37 10 8097786 8097786 + Missense_Mutation SNP A A C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 10 8097786 8097786 A C SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known missense c.168 p.Q56H 1.000 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 GATA3 HGNC ENSG00000107485 tier1 - - 116 0 0.00 33 60 64.52 GDF2 0 genome.wustl.edu 37 10 48416385 48416385 + Silent SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 10 48416385 48416385 C T SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known silent c.309 p.T103 0.986 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 tier1 - - 53 0 0.00 14 10 41.67 GLIPR1L2 0 genome.wustl.edu 37 12 75804237 75804237 + Silent SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 12 75804237 75804237 G T SNP GLIPR1L2 ENST00000550916 human ensembl 74_37 +1 known silent c.258 p.R86 0.989 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 34 0 0.00 37 2 5.13 GPR128 0 genome.wustl.edu 37 3 100362220 100362220 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 100362220 100362220 C T SNP GPR128 ENST00000273352 human ensembl 74_37 +1 known missense c.809 p.P270L 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 tier1 - - 47 0 0.00 39 4 9.30 GPR128 0 genome.wustl.edu 37 3 100356188 100356188 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 100356188 100356188 G T SNP GPR128 ENST00000273352 human ensembl 74_37 +1 known missense c.640 p.A214S 0.994 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 51 0 0.00 37 2 5.13 GRIA1 0 genome.wustl.edu 37 5 153190785 153190785 + Nonstop_Mutation SNP A A C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 5 153190785 153190785 A C SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known nonstop c.2751 p.*917Y 1.000 NULL 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 GRIA1 HGNC ENSG00000155511 tier1 - - 26 0 0.00 13 8 38.10 GUCY1B2 0 genome.wustl.edu 37 13 51594665 51594666 + RNA INS - - T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 13 51594665 51594666 - T INS GUCY1B2 ENST00000389600 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors GUCY1B2 HGNC ENSG00000123201 tier1 70 0 0.00 45 5 10.00 HCN1 0 genome.wustl.edu 37 5 45262335 45262335 + Silent SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 5 45262335 45262335 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.2361 p.S787 0.205 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 30 0 0.00 14 7 33.33 HIP1R 0 genome.wustl.edu 37 12 123340695 123340695 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 12 123340695 123340695 C T SNP HIP1R ENST00000253083 human ensembl 74_37 +1 known missense c.1297 p.R433C 0.977 NULL pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1R HGNC ENSG00000130787 46 0 0.00 41 3 6.82 HIST1H3C 0 genome.wustl.edu 37 6 26045794 26045794 + Silent SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 6 26045794 26045794 C T SNP HIST1H3C ENST00000540144 human ensembl 74_37 +1 known silent c.156 p.I52 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3C HGNC ENSG00000196532 tier1 - - 67 0 0.00 32 40 55.56 HSD17B12 0 genome.wustl.edu 37 11 43776433 43776433 + Frame_Shift_Del DEL T T - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 43776433 43776433 T - DEL HSD17B12 ENST00000395700 human ensembl 74_37 +1 putative frame_shift_del c.294 p.*99fs 0.010 NULL pfam_DH_sc/Rdtase_SDR - no_errors HSD17B12 HGNC ENSG00000149084 tier1 51 0 0.00 17 2 10.53 ICAM1 0 genome.wustl.edu 37 19 10385492 10385492 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 10385492 10385492 G A SNP ICAM1 ENST00000264832 human ensembl 74_37 +1 known missense c.119 p.R40Q 0.000 pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 tier1 - - 38 0 0.00 35 12 25.53 IGFN1 0 genome.wustl.edu 37 1 201181673 201181673 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 201181673 201181673 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.7652 p.R2551Q 0.000 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 IGFN1 HGNC ENSG00000163395 tier1 - - 80 0 0.00 29 4 12.12 IL12B 0 genome.wustl.edu 37 5 158750268 158750268 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 5 158750268 158750268 G T SNP IL12B ENST00000231228 human ensembl 74_37 -1 known missense c.158 p.P53H 0.037 pirsf_IL-12_beta,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL-12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL12B HGNC ENSG00000113302 tier1 - - 62 0 0.00 33 4 10.81 IMMP1L 0 genome.wustl.edu 37 11 31454095 31454095 + Frame_Shift_Del DEL A A - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 31454095 31454095 A - DEL IMMP1L ENST00000278200 human ensembl 74_37 -1 known frame_shift_del c.453 p.F151fs 1.000 superfamily_Peptidase_S24_S26A/B/C pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1 - no_errors IMMP1L HGNC ENSG00000148950 tier1 46 0 0.00 18 2 10.00 IMPG1 0 genome.wustl.edu 37 6 76640790 76640790 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 6 76640790 76640790 G A SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.2123 p.A708V 0.876 pfscan_EG-like_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 tier1 - - 40 0 0.00 14 9 39.13 INSIG2 0 genome.wustl.edu 37 2 118866018 118866018 + RNA SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 118866018 118866018 G A SNP INSIG2 ENST00000471186 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors INSIG2 HGNC ENSG00000125629 tier1 - - 36 0 0.00 13 7 35.00 IQCD 0 genome.wustl.edu 37 12 113633598 113633598 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 12 113633598 113633598 G T SNP IQCD ENST00000416617 human ensembl 74_37 -1 known missense c.1132 p.Q378K 0.986 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC ENSG00000166578 26 0 0.00 21 3 12.50 JAK3 0 genome.wustl.edu 37 19 17955112 17955112 + Frame_Shift_Del DEL G G - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 17955112 17955112 G - DEL JAK3 ENST00000458235 human ensembl 74_37 -1 known frame_shift_del c.115 p.Q39fs 0.212 smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 tier1 53 0 0.00 29 2 6.45 JDP2 0 genome.wustl.edu 37 14 75904636 75904636 + Nonsense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 14 75904636 75904636 C T SNP JDP2 ENST00000267569 human ensembl 74_37 +1 known nonsense c.46 p.Q16* 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors JDP2 HGNC ENSG00000140044 tier1 - - 54 0 0.00 54 18 25.00 KANSL3 0 genome.wustl.edu 37 2 97261266 97261267 + RNA INS - - A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 97261266 97261267 - A INS KANSL3 ENST00000481986 human ensembl 74_37 -1 known rna NULL NULL 0.022:0.011 - - - no_errors KANSL3 HGNC ENSG00000114982 tier1 41 0 0.00 13 5 27.78 KANSL3 0 genome.wustl.edu 37 2 97302702 97302702 + Silent SNP G G C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 97302702 97302702 G C SNP KANSL3 ENST00000431828 human ensembl 74_37 -1 known silent c.171 p.T57 0.997 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 tier1 - - 65 0 0.00 9 21 70.00 KCNB1 0 genome.wustl.edu 37 20 47991256 47991256 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 20 47991256 47991256 C T SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known missense c.841 p.E281K 0.998 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 tier1 - - 42 0 0.00 31 7 18.42 KDM2A 0 genome.wustl.edu 37 11 66999244 66999244 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 66999244 66999244 G A SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known missense c.1292 p.R431Q 0.999 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 tier1 rs200011930 - 38 0 0.00 3 26 89.66 KDM4B 0 genome.wustl.edu 37 19 5132015 5132015 + Nonsense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 5132015 5132015 G T SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known nonsense c.1903 p.E635* 1.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 24 0 0.00 27 2 6.90 KLF8 0 genome.wustl.edu 37 X 56291804 56291804 + Silent SNP T T C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a X 56291804 56291804 T C SNP KLF8 ENST00000468660 human ensembl 74_37 +1 known silent c.273 p.F91 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF8 HGNC ENSG00000102349 22 0 0.00 31 4 11.43 KRI1 0 genome.wustl.edu 37 19 10676487 10676488 + Frame_Shift_Ins INS - - CC TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 10676487 10676488 - CC INS KRI1 ENST00000361821 human ensembl 74_37 -1 putative frame_shift_ins c.80_79 p.A27fs 0.000:0.000 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 tier1 24 0 0.00 25 5 16.67 KRI1 0 genome.wustl.edu 37 19 10676487 10676488 + In_Frame_Ins INS - - CCC TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 10676487 10676488 - CCC INS KRI1 ENST00000361821 human ensembl 74_37 -1 putative in_frame_ins c.80_79 p.27in_frame_insG 0.000:0.000 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 tier1 24 0 0.00 23 7 23.33 LARP1B 0 genome.wustl.edu 37 4 129120737 129120737 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 4 129120737 129120737 G T SNP LARP1B ENST00000326639 human ensembl 74_37 +1 known missense c.2147 p.R716L 1.000 smart_DM15 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC ENSG00000138709 tier1 - - 120 0 0.00 20 3 13.04 LHCGR 0 genome.wustl.edu 37 2 48925917 48925917 + Nonsense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 48925917 48925917 G A SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known nonsense c.703 p.Q235* 1.000 NULL pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 tier1 - - 67 0 0.00 13 14 51.85 LOC100129029 0 genome.wustl.edu 37 2 159517070 159517070 + RNA SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 159517070 159517070 G A SNP LOC100129029 ENST00000342892 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005042.4 Clone_based_vega_gene ENSG00000204380 tier1 - - 52 0 0.00 16 3 15.79 LOC100293748 0 genome.wustl.edu 37 1 149261581 149261581 + RNA SNP G G C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 149261581 149261581 G C SNP LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 tier1 rs77998576 - 30 0 0.00 18 3 14.29 LOC101927417 0 genome.wustl.edu 37 1 15653648 15653648 + RNA SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 15653648 15653648 C T SNP LOC101927417 ENST00000428747 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP3-467K16.2 Clone_based_vega_gene ENSG00000233485 tier1 - - 31 0 0.00 25 4 13.79 LOC338963 0 genome.wustl.edu 37 15 83380075 83380075 + RNA SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 83380075 83380075 G A SNP LOC338963 ENST00000440089 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors AC105339.1 Clone_based_vega_gene ENSG00000228141 tier1 - - 20 0 0.00 0 12 100.00 LOC440040 0 genome.wustl.edu 37 11 49829227 49829227 + RNA SNP C C A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 49829227 49829227 C A SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 147 0 0.00 86 19 18.10 LRP1B 0 genome.wustl.edu 37 2 141093256 141093256 + Missense_Mutation SNP C C A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 141093256 141093256 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.12044 p.G4015V 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 95 0 0.00 44 13 22.81 LY6G5C 0 genome.wustl.edu 37 6 31644702 31644702 + RNA DEL G G - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 6 31644702 31644702 G - DEL LY6G5C ENST00000467098 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LY6G5C HGNC ENSG00000204428 tier1 54 0 0.00 10 2 16.67 LY6G6E 0 genome.wustl.edu 37 6 31680164 31680164 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 6 31680164 31680164 G A SNP LY6G6E ENST00000383418 human ensembl 74_37 -1 known missense c.332 p.P111L 0.025 NULL NULL - no_errors LY6G6E HGNC ENSG00000255552 tier1 - - 26 0 0.00 15 8 34.78 MAGEB5 0 genome.wustl.edu 37 X 26235664 26235664 + Missense_Mutation SNP C C A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a X 26235664 26235664 C A SNP MAGEB5 ENST00000379029 human ensembl 74_37 +1 known missense c.246 p.H82Q 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEB5 HGNC ENSG00000188408 tier1 - - 40 0 0.00 6 19 76.00 MAP3K5 0 genome.wustl.edu 37 6 136932475 136932475 + Silent SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 6 136932475 136932475 G A SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known silent c.2466 p.D822 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 89 0 0.00 39 58 59.18 MBD3 0 genome.wustl.edu 37 19 1578371 1578372 + In_Frame_Ins INS - - CTC TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 1578371 1578372 - CTC INS MBD3 ENST00000156825 human ensembl 74_37 -1 known in_frame_ins c.844_843 p.281in_frame_insE 0.893:0.902 superfamily_ARM-type_fold 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 22 0 0.00 23 8 25.81 MBOAT7 0 genome.wustl.edu 37 19 54687561 54687561 + Nonsense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 54687561 54687561 C T SNP MBOAT7 ENST00000437868 human ensembl 74_37 -1 known nonsense c.209 p.W70* 1.000 NULL NULL - no_errors MBOAT7 HGNC ENSG00000125505 tier1 - - 37 0 0.00 15 8 34.78 MEF2BNB-MEF2B 0 genome.wustl.edu 37 19 19261545 19261545 + Silent SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 19261545 19261545 C T SNP MEF2BNB-MEF2B ENST00000514819 human ensembl 74_37 -1 putative silent c.51 p.T17 0.012 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2BNB-MEF2B HGNC ENSG00000064489 tier1 - - 42 0 0.00 16 13 44.83 MICAL2 0 genome.wustl.edu 37 11 12280031 12280031 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 12280031 12280031 G T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.3159 p.K1053N 0.973 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 60 0 0.00 39 3 7.14 MIR31HG 0 genome.wustl.edu 37 9 21455676 21455676 + RNA SNP A A T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 9 21455676 21455676 A T SNP MIR31HG ENST00000304425 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR31HG HGNC ENSG00000171889 tier1 - - 44 0 0.00 36 4 10.00 MLX 0 genome.wustl.edu 37 17 40719147 40719147 + Missense_Mutation SNP C C G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 17 40719147 40719147 C G SNP MLX ENST00000246912 human ensembl 74_37 +1 known missense c.5 p.T2R 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLX HGNC ENSG00000108788 12 0 0.00 2 2 50.00 MROH7-TTC4 0 genome.wustl.edu 37 1 55134607 55134607 + Missense_Mutation SNP T T G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 55134607 55134607 T G SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.1386 p.I462M 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 49 0 0.00 35 4 10.26 MSC 0 genome.wustl.edu 37 8 72755971 72755971 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 8 72755971 72755971 G A SNP MSC ENST00000325509 human ensembl 74_37 -1 known missense c.443 p.T148M 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSC HGNC ENSG00000178860 tier1 - - 77 0 0.00 28 10 26.32 MSR1 0 genome.wustl.edu 37 8 16012628 16012628 + Frame_Shift_Del DEL T T - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 8 16012628 16012628 T - DEL MSR1 ENST00000262101 human ensembl 74_37 -1 known frame_shift_del c.843 p.G282fs 1.000 pfam_Collagen pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 tier1 84 0 0.00 22 2 8.33 MTMR2 0 genome.wustl.edu 37 11 95582865 95582865 + Silent SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 95582865 95582865 C T SNP MTMR2 ENST00000346299 human ensembl 74_37 -1 known silent c.966 p.R322 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR2 HGNC ENSG00000087053 69 0 0.00 37 3 7.50 MTPAP 0 genome.wustl.edu 37 10 30653804 30653804 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 10 30653804 30653804 G T SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known missense c.378 p.H126Q 0.644 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 tier1 - - 63 0 0.00 123 24 16.33 MUC16 0 genome.wustl.edu 37 19 9070673 9070673 + Silent SNP T T A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 9070673 9070673 T A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.16773 p.G5591 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 83 0 0.00 27 7 20.59 MYH6 0 genome.wustl.edu 37 14 23862683 23862683 + Silent SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 14 23862683 23862683 G T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.2973 p.I991 0.776 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 45 0 0.00 43 3 6.52 MYL7 0 genome.wustl.edu 37 7 44179994 44179994 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 7 44179994 44179994 C T SNP MYL7 ENST00000223364 human ensembl 74_37 -1 known missense c.226 p.A76T 0.977 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL7 HGNC ENSG00000106631 56 0 0.00 31 3 8.82 MYO18B 0 genome.wustl.edu 37 22 26224867 26224867 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 22 26224867 26224867 G A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.2911 p.A971T 0.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 23 0 0.00 13 32 69.57 MYO7B 0 genome.wustl.edu 37 2 128350416 128350416 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 128350416 128350416 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.2040 p.M680I 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 tier1 - - 53 0 0.00 32 4 11.11 MYOZ2 0 genome.wustl.edu 37 4 120079211 120079211 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 4 120079211 120079211 G T SNP MYOZ2 ENST00000307128 human ensembl 74_37 +1 known missense c.281 p.G94V 0.808 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ2 HGNC ENSG00000172399 82 0 0.00 32 2 5.88 NACAD 0 genome.wustl.edu 37 7 45120479 45120481 + In_Frame_Del DEL TCC TCC - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 7 45120479 45120481 TCC - DEL NACAD ENST00000490531 human ensembl 74_37 -1 known in_frame_del c.4547_4545 p.E1517in_frame_del 0.991:0.982:0.716 NULL pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACAD HGNC ENSG00000136274 tier1 19 0 0.00 16 3 15.79 NCAM1 0 genome.wustl.edu 37 11 113147558 113147558 + RNA DEL G G - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 113147558 113147558 G - DEL NCAM1 ENST00000397957 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors NCAM1 HGNC ENSG00000149294 tier1 63 0 0.00 5 6 54.55 NCKAP5 0 genome.wustl.edu 37 2 133540573 133540573 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 133540573 133540573 C T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.3811 p.A1271T 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 58 0 0.00 38 2 5.00 NCSTN 0 genome.wustl.edu 37 1 160322740 160322740 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 160322740 160322740 G A SNP NCSTN ENST00000294785 human ensembl 74_37 +1 known missense c.1060 p.V354M 1.000 pfam_Nicastrin pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 tier1 rs11547484 - 76 0 0.00 71 29 29.00 NEURL1B 0 genome.wustl.edu 37 5 172113202 172113202 + Silent SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 5 172113202 172113202 G A SNP NEURL1B ENST00000369800 human ensembl 74_37 +1 known silent c.1326 p.T442 0.000 NULL pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL1B HGNC ENSG00000214357 tier1 - - 15 0 0.00 7 4 36.36 NLGN1 0 genome.wustl.edu 37 3 173322865 173322865 + Nonsense_Mutation SNP T T A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 173322865 173322865 T A SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known nonsense c.477 p.Y159* 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 tier1 - - 19 0 0.00 8 5 38.46 NOS1 0 genome.wustl.edu 37 12 117728207 117728207 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 12 117728207 117728207 G T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.877 p.P293T 1.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 37 0 0.00 26 4 13.33 NTN1 0 genome.wustl.edu 37 17 9083223 9083223 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 17 9083223 9083223 G A SNP NTN1 ENST00000173229 human ensembl 74_37 +1 known missense c.1307 p.R436H 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_Netrin_module_non-TIMP,pfam_EGF_laminin,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN1 HGNC ENSG00000065320 tier1 - - 44 0 0.00 23 4 14.81 NTRK2 0 genome.wustl.edu 37 9 87570289 87570289 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 9 87570289 87570289 G A SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.2029 p.A677T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 46 0 0.00 27 2 6.90 OR2L3 0 genome.wustl.edu 37 1 248224767 248224767 + Silent SNP A A C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 248224767 248224767 A C SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known silent c.784 p.R262 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 tier1 - - 111 0 0.00 10 74 88.10 PABPC4L 0 genome.wustl.edu 37 4 135122092 135122092 + Missense_Mutation SNP C C A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 4 135122092 135122092 C A SNP PABPC4L ENST00000529122 human ensembl 74_37 -1 known missense c.257 p.R86M 0.996 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4L HGNC ENSG00000254535 tier1 - - 35 0 0.00 6 10 62.50 PAK7 0 genome.wustl.edu 37 20 9523256 9523256 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 20 9523256 9523256 G T SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known missense c.1981 p.P661T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 tier1 - - 30 0 0.00 19 5 20.83 PARD6G 0 genome.wustl.edu 37 18 77917939 77917939 + Silent SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 18 77917939 77917939 C T SNP PARD6G ENST00000353265 human ensembl 74_37 -1 known silent c.846 p.P282 0.009 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6G HGNC ENSG00000178184 tier1 - - 29 0 0.00 7 5 41.67 PAX1 0 genome.wustl.edu 37 20 21689953 21689953 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 20 21689953 21689953 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.1153 p.G385S 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 24 0 0.00 11 10 47.62 PCDHGA5 0 genome.wustl.edu 37 5 140744933 140744933 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 5 140744933 140744933 G A SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.1036 p.E346K 0.081 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 tier1 - - 65 0 0.00 19 20 51.28 PCNXL2 0 genome.wustl.edu 37 1 233394952 233394952 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 233394952 233394952 G T SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.656 p.A219D 0.000 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 59 0 0.00 52 4 7.14 PHLPP1 0 genome.wustl.edu 37 18 60527681 60527681 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 18 60527681 60527681 G A SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.1913 p.R638H 1.000 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 tier1 - - 47 0 0.00 22 4 15.38 PLA2G6 0 genome.wustl.edu 37 22 38531018 38531018 + Frame_Shift_Del DEL G G - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 22 38531018 38531018 G - DEL PLA2G6 ENST00000332509 human ensembl 74_37 -1 known frame_shift_del c.871 p.L291fs 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 tier1 59 0 0.00 37 2 5.13 PLSCR5 0 genome.wustl.edu 37 3 146307513 146307513 + Missense_Mutation SNP T T C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 146307513 146307513 T C SNP PLSCR5 ENST00000443512 human ensembl 74_37 -1 known missense c.704 p.N235S 1.000 pfam_Scramblase,superfamily_Tubby_C-like pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR5 HGNC ENSG00000231213 tier1 - - 45 0 0.00 11 41 78.85 PLXND1 0 genome.wustl.edu 37 3 129292499 129292499 + Silent SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 129292499 129292499 G A SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known silent c.2775 p.H925 0.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 56 0 0.00 48 3 5.88 POLN 0 genome.wustl.edu 37 4 2214842 2214842 + Missense_Mutation SNP T T A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 4 2214842 2214842 T A SNP POLN ENST00000382865 human ensembl 74_37 -1 known missense c.145 p.I49L 0.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 tier1 - - 44 0 0.00 5 17 77.27 POLR3D 0 genome.wustl.edu 37 8 22106032 22106033 + Frame_Shift_Ins INS - - A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 8 22106032 22106033 - A INS POLR3D ENST00000397802 human ensembl 74_37 +1 known frame_shift_ins c.525_526 p.M175fs 1.000:1.000 NULL pfam_RPC4 - no_errors POLR3D HGNC ENSG00000168495 tier1 35 0 0.00 17 6 26.09 POTEB2 0 genome.wustl.edu 37 15 21071315 21071315 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 21071315 21071315 C T SNP POTEB2 ENST00000454856 human ensembl 74_37 -1 known missense c.296 p.R99H 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEB2 HGNC ENSG00000230031 tier1 - - 25 0 0.00 37 25 40.32 PPEF2 0 genome.wustl.edu 37 4 76797687 76797687 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 4 76797687 76797687 G T SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known missense c.1073 p.P358H 0.001 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 tier1 - - 36 0 0.00 18 4 18.18 PPID 0 genome.wustl.edu 37 4 159642595 159642595 + Silent SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 4 159642595 159642595 G T SNP PPID ENST00000307720 human ensembl 74_37 -1 known silent c.126 p.P42 0.997 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPID HGNC ENSG00000171497 tier1 - - 78 0 0.00 38 4 9.52 PRICKLE2-AS1 0 genome.wustl.edu 37 3 64084116 64084116 + RNA SNP A A G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 64084116 64084116 A G SNP PRICKLE2-AS1 ENST00000482609 human ensembl 74_37 +1 known rna NULL NULL 0.602 - - - no_errors RP11-129B22.1 Clone_based_vega_gene ENSG00000241111 tier1 - - 65 0 0.00 16 3 15.79 PRKAG3 0 genome.wustl.edu 37 2 219688556 219688556 + Missense_Mutation SNP C C A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 219688556 219688556 C A SNP PRKAG3 ENST00000233944 human ensembl 74_37 -1 known missense c.1399 p.V467L 0.996 pfam_CBS_dom,smart_CBS_dom pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG3 HGNC ENSG00000115592 40 0 0.00 30 2 6.25 PROKR2 0 genome.wustl.edu 37 20 5283203 5283203 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 20 5283203 5283203 G T SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.638 p.P213H 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 60 0 0.00 32 2 5.88 PTPRZ1 0 genome.wustl.edu 37 7 121678904 121678904 + Missense_Mutation SNP A A C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 7 121678904 121678904 A C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.5463 p.E1821D 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 82 0 0.00 19 50 72.46 RAVER1 0 genome.wustl.edu 37 19 10429038 10429038 + Frame_Shift_Del DEL G G - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 10429038 10429038 G - DEL RAVER1 ENST00000293677 human ensembl 74_37 -1 known frame_shift_del c.1907 p.P636fs 0.986 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 tier1 125 0 0.00 26 2 7.14 RBM39 0 genome.wustl.edu 37 20 34330056 34330056 + RNA SNP A A G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 20 34330056 34330056 A G SNP RBM39 ENST00000442447 human ensembl 74_37 -1 known rna NULL NULL 0.945 - - - no_errors RBM39 HGNC ENSG00000131051 tier1 - - 76 0 0.00 23 8 25.81 RETNLB 0 genome.wustl.edu 37 3 108475993 108475993 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 108475993 108475993 G A SNP RETNLB ENST00000295755 human ensembl 74_37 -1 known missense c.40 p.L14F 0.952 pfam_Resistin pfam_Resistin,superfamily_Resistin - no_errors RETNLB HGNC ENSG00000163515 56 0 0.00 55 4 6.78 RFPL3 0 genome.wustl.edu 37 22 32754182 32754182 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 22 32754182 32754182 G A SNP RFPL3 ENST00000249007 human ensembl 74_37 +1 known missense c.124 p.V42I 0.913 pfscan_Znf_RING pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC ENSG00000128276 tier1 - - 111 0 0.00 17 33 66.00 RHPN1 0 genome.wustl.edu 37 8 144457755 144457755 + Silent SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 8 144457755 144457755 C T SNP RHPN1 ENST00000289013 human ensembl 74_37 +1 known silent c.93 p.G31 1.000 superfamily_HR1_rho-bd pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 tier1 - - 82 0 0.00 103 6 5.50 RN7SL82P 0 genome.wustl.edu 37 15 31092399 31092399 + RNA SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 31092399 31092399 C T SNP RN7SL82P ENST00000463782 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors RN7SL82P HGNC ENSG00000241266 tier1 - - 27 0 0.00 19 17 47.22 RPS6KA6 0 genome.wustl.edu 37 X 83351266 83351266 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a X 83351266 83351266 C T SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.1907 p.R636H 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 tier1 - - 67 0 0.00 32 19 37.25 SCAMP4 0 genome.wustl.edu 37 19 1923186 1923186 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 1923186 1923186 G T SNP SCAMP4 ENST00000316097 human ensembl 74_37 +1 known missense c.513 p.K171N 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP4 HGNC ENSG00000227500 tier1 - - 38 0 0.00 18 3 14.29 SEPT1 0 genome.wustl.edu 37 16 30391324 30391324 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 16 30391324 30391324 G A SNP SEPT1 ENST00000321367 human ensembl 74_37 -1 known missense c.730 p.H244Y 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT1 HGNC ENSG00000180096 tier1 - - 41 0 0.00 7 8 53.33 SH3BP5 0 genome.wustl.edu 37 3 15311298 15311298 + Silent SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 15311298 15311298 G T SNP SH3BP5 ENST00000383791 human ensembl 74_37 -1 known silent c.417 p.A139 0.220 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5 HGNC ENSG00000131370 tier1 - - 26 0 0.00 13 3 18.75 SH3RF2 0 genome.wustl.edu 37 5 145428710 145428710 + Silent SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 5 145428710 145428710 G A SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known silent c.1224 p.R408 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 tier1 - - 77 0 0.00 26 11 29.73 SHMT1 0 genome.wustl.edu 37 17 18251744 18251744 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 17 18251744 18251744 C T SNP SHMT1 ENST00000316694 human ensembl 74_37 -1 known missense c.253 p.G85R 1.000 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT1 HGNC ENSG00000176974 tier1 - - 61 0 0.00 16 12 42.86 SIDT1 0 genome.wustl.edu 37 3 113327292 113327292 + Silent SNP T T C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 113327292 113327292 T C SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known silent c.1629 p.G543 1.000 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 tier1 - - 64 0 0.00 83 17 17.00 SLC15A2 0 genome.wustl.edu 37 3 121659777 121659777 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 121659777 121659777 C T SNP SLC15A2 ENST00000489711 human ensembl 74_37 +1 known missense c.2113 p.R705W 0.001 superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 tier1 rs138745887 - 54 0 0.00 21 58 73.42 SLC17A4 0 genome.wustl.edu 37 6 25762254 25762254 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 6 25762254 25762254 G A SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.64 p.V22M 0.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 tier1 - - 90 0 0.00 14 25 64.10 SLC25A21 0 genome.wustl.edu 37 14 37194798 37194798 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 14 37194798 37194798 C T SNP SLC25A21 ENST00000331299 human ensembl 74_37 -1 known missense c.415 p.A139T 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A21 HGNC ENSG00000183032 tier1 - - 94 0 0.00 59 4 6.35 SLC30A5 0 genome.wustl.edu 37 5 68396658 68396658 + Silent SNP A A G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 5 68396658 68396658 A G SNP SLC30A5 ENST00000396591 human ensembl 74_37 +1 known silent c.108 p.L36 0.435 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 tier1 - - 49 0 0.00 39 8 17.02 SLC6A1 0 genome.wustl.edu 37 3 11078575 11078575 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 3 11078575 11078575 G A SNP SLC6A1 ENST00000287766 human ensembl 74_37 +1 known missense c.1723 p.E575K 1.000 NULL pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport - no_errors SLC6A1 HGNC ENSG00000157103 tier1 - - 48 0 0.00 4 20 83.33 SMARCAL1 0 genome.wustl.edu 37 2 217280990 217280990 + Silent SNP C C G TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 217280990 217280990 C G SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known silent c.822 p.T274 0.784 pfam_HARP_dom pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 tier1 - - 85 0 0.00 43 20 31.75 SMC1B 0 genome.wustl.edu 37 22 45798264 45798264 + Missense_Mutation SNP T T C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 22 45798264 45798264 T C SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known missense c.803 p.K268R 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 tier1 - - 68 0 0.00 66 4 5.71 SNAP91 0 genome.wustl.edu 37 6 84284746 84284746 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 6 84284746 84284746 G A SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known missense c.2425 p.P809S 0.083 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 tier1 - - 34 0 0.00 6 10 62.50 SNHG14 0 genome.wustl.edu 37 15 25349906 25349906 + RNA SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 25349906 25349906 C T SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 44 0 0.00 6 21 77.78 SNORD115-4 0 genome.wustl.edu 37 15 25422019 25422019 + RNA SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 25422019 25422019 G T SNP SNORD115-4 ENST00000363810 human ensembl 74_37 +1 known rna NULL NULL 0.751 - - - no_errors SNORD115-4 HGNC ENSG00000200680 tier1 - - 82 0 0.00 31 55 63.95 SNX1 0 genome.wustl.edu 37 15 64410418 64410418 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 64410418 64410418 C T SNP SNX1 ENST00000559844 human ensembl 74_37 +1 known missense c.374 p.S125L 0.998 pfam_Sorting_nexin_N pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 tier1 rs138423671 - 80 0 0.00 63 4 5.97 SOBP 0 genome.wustl.edu 37 6 107955219 107955219 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 6 107955219 107955219 G T SNP SOBP ENST00000317357 human ensembl 74_37 +1 known missense c.1171 p.G391C 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 tier1 - - 36 0 0.00 41 4 8.89 SRMS 0 genome.wustl.edu 37 20 62172297 62172297 + Silent SNP G G C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 20 62172297 62172297 G C SNP SRMS ENST00000217188 human ensembl 74_37 -1 known silent c.1341 p.R447 0.896 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC ENSG00000125508 tier1 - - 10 0 0.00 15 15 50.00 ST5 0 genome.wustl.edu 37 11 8752018 8752018 + Silent SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 8752018 8752018 G A SNP ST5 ENST00000313726 human ensembl 74_37 -1 known silent c.819 p.G273 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 tier1 - - 31 0 0.00 6 26 81.25 STAG3L3 0 genome.wustl.edu 37 7 72440358 72440358 + RNA SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 7 72440358 72440358 C T SNP STAG3L3 ENST00000436857 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors STAG3L3 HGNC ENSG00000174353 tier1 - - 46 0 0.00 25 7 21.88 STOML1 0 genome.wustl.edu 37 15 74277035 74277035 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 74277035 74277035 C T SNP STOML1 ENST00000316900 human ensembl 74_37 -1 known missense c.968 p.G323D 0.998 pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin - no_errors STOML1 HGNC ENSG00000067221 tier1 - - 67 0 0.00 28 4 12.50 SUPT6H 0 genome.wustl.edu 37 17 27026896 27026896 + Nonsense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 17 27026896 27026896 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known nonsense c.4546 p.Q1516* 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 tier1 - - 90 0 0.00 38 4 9.52 TCF19 0 genome.wustl.edu 37 6 31129244 31129244 + Nonsense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 6 31129244 31129244 C T SNP TCF19 ENST00000376255 human ensembl 74_37 +1 known nonsense c.259 p.R87* 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom - no_errors TCF19 HGNC ENSG00000137310 48 0 0.00 36 3 7.69 TERF2 0 genome.wustl.edu 37 16 69400729 69400729 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 16 69400729 69400729 G A SNP TERF2 ENST00000254942 human ensembl 74_37 -1 known missense c.1321 p.P441S 0.010 pirsf_Telomere_repeat-bd-1/2 pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF2 HGNC ENSG00000132604 tier1 - - 50 0 0.00 29 36 55.38 TGM7 0 genome.wustl.edu 37 15 43574111 43574111 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 43574111 43574111 C T SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known missense c.1282 p.E428K 0.514 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 tier1 - - 60 0 0.00 26 10 27.78 TM2D1 0 genome.wustl.edu 37 1 62165861 62165863 + In_Frame_Del DEL GAT GAT - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 62165861 62165863 GAT - DEL TM2D1 ENST00000371177 human ensembl 74_37 -1 putative in_frame_del c.525_523 p.I175in_frame_del 0.040:0.164:0.671 NULL pfam_TM2 - no_errors TM2D1 HGNC ENSG00000162604 tier1 47 0 0.00 17 16 48.48 TNFRSF25 0 genome.wustl.edu 37 1 6521717 6521717 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 6521717 6521717 G A SNP TNFRSF25 ENST00000377782 human ensembl 74_37 -1 known missense c.1058 p.A353V 0.741 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF25 HGNC ENSG00000215788 tier1 - - 21 0 0.00 15 11 42.31 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 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 rs121912651 - 37 0 0.00 5 41 89.13 TPST1 0 genome.wustl.edu 37 7 65885473 65885473 + RNA DEL T T - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 7 65885473 65885473 T - DEL TPST1 ENST00000490159 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TPST1 HGNC ENSG00000169902 tier1 9 0 0.00 9 2 18.18 TRIM50 0 genome.wustl.edu 37 7 72727162 72727162 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 7 72727162 72727162 C T SNP TRIM50 ENST00000333149 human ensembl 74_37 -1 known missense c.1219 p.V407M 0.035 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC ENSG00000146755 tier1 - - 9 0 0.00 17 9 34.62 TRPC6 0 genome.wustl.edu 37 11 101454162 101454162 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 101454162 101454162 G A SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.73 p.R25C 1.000 NULL pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 tier1 - - 29 0 0.00 10 10 50.00 TSHZ3 0 genome.wustl.edu 37 19 31768451 31768451 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 31768451 31768451 G T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.2248 p.L750I 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 32 0 0.00 18 5 20.83 TTC24 0 genome.wustl.edu 37 1 156552116 156552116 + Nonsense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 1 156552116 156552116 G A SNP TTC24 ENST00000368236 human ensembl 74_37 +1 known nonsense c.800 p.W267* 0.125 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC24 HGNC ENSG00000187862 tier1 - - 39 0 0.00 20 25 55.56 TTN 0 genome.wustl.edu 37 2 179604912 179604912 + Missense_Mutation SNP C C A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 179604912 179604912 C A SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12535 p.V4179L 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 32 0 0.00 22 2 8.33 TUBGCP6 0 genome.wustl.edu 37 22 50662532 50662532 + RNA SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 22 50662532 50662532 G A SNP TUBGCP6 ENST00000473946 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TUBGCP6 HGNC ENSG00000128159 tier1 - - 18 0 0.00 17 5 22.73 TXNRD1 0 genome.wustl.edu 37 12 104709577 104709577 + Missense_Mutation SNP T T A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 12 104709577 104709577 T A SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.633 p.N211K 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 tier1 - - 69 0 0.00 21 5 19.23 TYRO3 0 genome.wustl.edu 37 15 41865875 41865875 + Splice_Site SNP A A T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 41865875 41865875 A T SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known splice_site c.2146-2 e18-2 1.000 - - - no_errors TYRO3 HGNC ENSG00000092445 61 0 0.00 23 3 11.54 ULK2 0 genome.wustl.edu 37 17 19689396 19689396 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 17 19689396 19689396 G T SNP ULK2 ENST00000361658 human ensembl 74_37 -1 known missense c.2105 p.P702Q 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 45 0 0.00 28 2 6.67 USP47 0 genome.wustl.edu 37 11 11977845 11977845 + RNA SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 11 11977845 11977845 G A SNP USP47 ENST00000305481 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors USP47 HGNC ENSG00000170242 tier1 - - 22 0 0.00 1 7 87.50 VIM 0 genome.wustl.edu 37 10 17275912 17275912 + Missense_Mutation SNP A A C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 10 17275912 17275912 A C SNP VIM ENST00000224237 human ensembl 74_37 +1 known missense c.864 p.E288D 0.970 pfam_IF,superfamily_Prefoldin pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 tier1 - - 64 0 0.00 11 16 59.26 WFS1 0 genome.wustl.edu 37 4 6302454 6302454 + Missense_Mutation SNP G G A TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 4 6302454 6302454 G A SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.932 p.G311D 1.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 25 0 0.00 31 3 8.82 ZCCHC5 0 genome.wustl.edu 37 X 77912927 77912927 + Missense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a X 77912927 77912927 G T SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known missense c.991 p.Q331K 0.002 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 tier1 - - 39 0 0.00 8 27 77.14 ZFR2 0 genome.wustl.edu 37 19 3810816 3810816 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 3810816 3810816 C T SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known missense c.2365 p.V789M 0.991 pfam_DZF,smart_DZF pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 tier1 - - 80 0 0.00 43 18 29.51 ZNF142 0 genome.wustl.edu 37 2 219506993 219506993 + Frame_Shift_Del DEL C C - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 2 219506993 219506993 C - DEL ZNF142 ENST00000411696 human ensembl 74_37 -1 known frame_shift_del c.4246 p.D1416fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 tier1 18 0 0.00 16 2 11.11 ZNF329 0 genome.wustl.edu 37 19 58639316 58639316 + Frame_Shift_Del DEL T T - TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 58639316 58639316 T - DEL ZNF329 ENST00000358067 human ensembl 74_37 -1 known frame_shift_del c.1555 p.M519fs 0.013 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 tier1 51 0 0.00 43 3 6.52 ZNF710 0 genome.wustl.edu 37 15 90610957 90610957 + Silent SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 15 90610957 90610957 G T SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known silent c.588 p.R196 0.012 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 tier1 - - 32 0 0.00 1 3 75.00 ZNF843 0 genome.wustl.edu 37 16 31447681 31447681 + Missense_Mutation SNP C C T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 16 31447681 31447681 C T SNP ZNF843 ENST00000315678 human ensembl 74_37 -1 known missense c.490 p.V164I 0.042 pfscan_Znf_C2H2 pfscan_Znf_C2H2 - no_errors ZNF843 HGNC ENSG00000176723 tier1 - - 31 0 0.00 12 7 36.84 ZNF99 0 genome.wustl.edu 37 19 22941476 22941476 + Missense_Mutation SNP A A C TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f2b78b4-047e-4f81-be75-6acd061c3bbc d17db4e5-5501-4125-b262-33777500f95a 19 22941476 22941476 A C SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.962 p.L321R 0.003 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 ZNF99 HGNC ENSG00000213973 tier1 - - 94 0 0.00 35 18 33.96