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 ABCA3 0 genome.wustl.edu 37 16 2336804 2336804 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 2336804 2336804 C T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.3169 p.V1057M 0.999 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 tier1 - - 77 0 0.00 55 10 15.38 ABCD2 0 genome.wustl.edu 37 12 39994435 39994435 + Nonsense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 39994435 39994435 C T SNP ABCD2 ENST00000308666 human ensembl 74_37 -1 known nonsense c.1584 p.W528* 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_Peroxi_TM,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 ABCD2 HGNC ENSG00000173208 tier1 - - 94 0 0.00 75 11 12.79 ACSBG1 0 genome.wustl.edu 37 15 78526912 78526912 + RNA SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 78526912 78526912 G A SNP ACSBG1 ENST00000559713 human ensembl 74_37 -1 putative rna NULL NULL 0.992 - - - no_errors ACSBG1 HGNC ENSG00000103740 tier1 - - 48 0 0.00 37 7 15.91 ACSM4 0 genome.wustl.edu 37 12 7459218 7459218 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 7459218 7459218 G T SNP ACSM4 ENST00000399422 human ensembl 74_37 +1 novel missense c.291 p.L97F 0.984 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 tier1 - - 65 0 0.00 68 4 5.56 ACTR3B 0 genome.wustl.edu 37 7 152549293 152549293 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 152549293 152549293 C T SNP ACTR3B ENST00000256001 human ensembl 74_37 +1 known missense c.1034 p.A345V 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR3B HGNC ENSG00000133627 tier1 - - 86 0 0.00 85 7 7.61 ADAM28 0 genome.wustl.edu 37 8 24167440 24167440 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 24167440 24167440 A G SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.184 p.T62A 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 tier1 - - 87 0 0.00 72 4 5.26 ADAMTS1 0 genome.wustl.edu 37 21 28214671 28214671 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 21 28214671 28214671 A G SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.1064 p.L355P 0.999 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 tier1 - - 54 0 0.00 19 8 29.63 ADAMTS2 0 genome.wustl.edu 37 5 178554969 178554969 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 178554969 178554969 A G SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.2608 p.C870R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 55 0 0.00 24 4 14.29 ADRA1A 0 genome.wustl.edu 37 8 26627672 26627672 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 26627672 26627672 T G SNP ADRA1A ENST00000276393 human ensembl 74_37 -1 known missense c.1395 p.E465D 0.997 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 tier1 - - 61 0 0.00 42 19 31.15 AGAP7 0 genome.wustl.edu 37 10 51465015 51465015 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 51465015 51465015 C A SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.1441 p.G481C 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 tier1 - - 58 0 0.00 85 19 18.27 AGAP7 0 genome.wustl.edu 37 10 51483216 51483216 + Missense_Mutation SNP G G C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 51483216 51483216 G C SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.250 p.P84A 0.993 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 tier1 - - 138 0 0.00 182 22 10.78 AGPS 0 genome.wustl.edu 37 2 178378595 178378595 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 178378595 178378595 C T SNP AGPS ENST00000264167 human ensembl 74_37 +1 known silent c.1656 p.C552 1.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 45 0 0.00 36 3 7.69 AKNAD1 0 genome.wustl.edu 37 1 109391542 109391542 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 109391542 109391542 T C SNP AKNAD1 ENST00000370001 human ensembl 74_37 -1 known missense c.1174 p.K392E 1.000 pfam_TF_AT-hook pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 tier1 - - 85 0 0.00 49 11 18.33 AKT2 0 genome.wustl.edu 37 19 40742171 40742171 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 40742171 40742171 G A SNP AKT2 ENST00000392038 human ensembl 74_37 -1 known missense c.953 p.A318V 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_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT2 HGNC ENSG00000105221 tier1 - - 54 0 0.00 37 8 17.78 ALMS1 0 genome.wustl.edu 37 2 73836724 73836724 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 73836724 73836724 A C SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.12489 p.K4163N 1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 54 0 0.00 32 11 25.58 AMDHD1 0 genome.wustl.edu 37 12 96350667 96350667 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 96350667 96350667 G A SNP AMDHD1 ENST00000266736 human ensembl 74_37 +1 known missense c.514 p.V172M 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC ENSG00000139344 tier1 - - 50 0 0.00 38 7 15.56 ANAPC2 0 genome.wustl.edu 37 9 140080911 140080912 + RNA DEL CA CA - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 140080911 140080912 CA - DEL ANAPC2 ENST00000495611 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ANAPC2 HGNC ENSG00000176248 tier1 21 0 0.00 7 3 30.00 ANK3 0 genome.wustl.edu 37 10 61829130 61829130 + Nonsense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 61829130 61829130 C A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known nonsense c.11509 p.G3837* 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 49 0 0.00 59 4 6.35 ANKRD30BP2 0 genome.wustl.edu 37 21 14417502 14417502 + RNA SNP T T A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 21 14417502 14417502 T A SNP ANKRD30BP2 ENST00000471407 human ensembl 74_37 +1 known rna NULL NULL 0.235 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier1 - - 245 0 0.00 179 18 9.14 ARHGAP24 0 genome.wustl.edu 37 4 86916623 86916623 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 86916623 86916623 G T SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known missense c.1816 p.D606Y 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 tier1 - - 44 0 0.00 40 4 9.09 ARHGEF10 0 genome.wustl.edu 37 8 1900950 1900950 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 1900950 1900950 G A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.3552 p.V1184 0.931 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 tier1 - - 137 0 0.00 185 13 6.50 ARID1A 0 genome.wustl.edu 37 1 27100324 27100324 + Nonsense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 27100324 27100324 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.4036 p.Q1346* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 91 0 0.00 52 13 20.00 ARPC2 0 genome.wustl.edu 37 2 219114399 219114399 + RNA SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 219114399 219114399 C T SNP ARPC2 ENST00000487321 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ARPC2 HGNC ENSG00000163466 tier1 - - 19 0 0.00 12 5 29.41 ASIC2 0 genome.wustl.edu 37 17 31350878 31350878 + Splice_Site SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 17 31350878 31350878 C T SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known splice_site c.1349+1 e6+1 1.000 - - - no_errors ASIC2 HGNC ENSG00000108684 tier1 rs199653464 - 52 0 0.00 35 14 28.57 ASTN2 0 genome.wustl.edu 37 9 119204735 119204735 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 119204735 119204735 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.3595 p.E1199K 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 52 0 0.00 45 4 8.16 ASTN2 0 genome.wustl.edu 37 9 120176829 120176829 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 120176829 120176829 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.388 p.R130C 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 rs201301375 - 67 0 0.00 55 11 16.67 ASXL3 0 genome.wustl.edu 37 18 31323952 31323952 + Silent SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 31323952 31323952 A G SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.4140 p.E1380 0.966 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 39 0 0.00 21 8 27.59 ATAD2 0 genome.wustl.edu 37 8 124357205 124357205 + Silent SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 124357205 124357205 T C SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known silent c.2637 p.T879 0.996 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 tier1 - - 43 0 0.00 70 9 11.39 ATG2B 0 genome.wustl.edu 37 14 96756870 96756870 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 14 96756870 96756870 C T SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.5759 p.R1920H 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 41 0 0.00 26 3 10.00 ATP4A 0 genome.wustl.edu 37 19 36046578 36046578 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 36046578 36046578 T G SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.2006 p.K669T 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 tier1 - - 49 0 0.00 39 9 18.75 ATP6V1E1 0 genome.wustl.edu 37 22 18075498 18075498 + Missense_Mutation SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 22 18075498 18075498 A T SNP ATP6V1E1 ENST00000253413 human ensembl 74_37 -1 known missense c.623 p.M208K 1.000 pfam_ATPase_V1/A1-cplx_esu pfam_ATPase_V1/A1-cplx_esu - no_errors ATP6V1E1 HGNC ENSG00000131100 67 0 0.00 62 4 6.06 ATP9B 0 genome.wustl.edu 37 18 77097384 77097384 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 77097384 77097384 G A SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2218 p.V740M 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 tier1 - - 46 0 0.00 28 13 31.71 BAI3 0 genome.wustl.edu 37 6 69728321 69728321 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 69728321 69728321 A C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2037 p.E679D 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 73 0 0.00 53 18 25.35 BBS9 0 genome.wustl.edu 37 7 33313529 33313529 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 33313529 33313529 T G SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.977 p.L326R 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 tier1 - - 58 0 0.00 35 32 47.76 BCAR1 0 genome.wustl.edu 37 16 75269147 75269147 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 75269147 75269147 G T SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.1788 p.D596E 0.364 pfam_Serine_rich 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 59 0 0.00 44 4 8.33 BCHE 0 genome.wustl.edu 37 3 165547720 165547720 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 165547720 165547720 C A SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.1102 p.D368Y 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 - - 67 0 0.00 51 21 29.17 BCHE 0 genome.wustl.edu 37 3 165548322 165548322 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 165548322 165548322 A C SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.500 p.V167G 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 tier1 - - 40 0 0.00 34 7 17.07 BCL11B 0 genome.wustl.edu 37 14 99641903 99641903 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 14 99641903 99641903 C T SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known missense c.1270 p.A424T 0.481 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 tier1 - - 33 0 0.00 36 4 10.00 BICC1 0 genome.wustl.edu 37 10 60566769 60566769 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 60566769 60566769 T G SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.2227 p.L743V 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 63 0 0.00 44 23 34.33 BNC2 0 genome.wustl.edu 37 9 16435643 16435643 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 16435643 16435643 A C SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.2549 p.L850R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 tier1 - - 63 0 0.00 22 15 40.54 BOD1L1 0 genome.wustl.edu 37 4 13602954 13602954 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 13602954 13602954 C A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.5570 p.S1857I 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 29 0 0.00 23 2 8.00 BTBD1 0 genome.wustl.edu 37 15 83687549 83687549 + Nonsense_Mutation SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 83687549 83687549 A T SNP BTBD1 ENST00000261721 human ensembl 74_37 -1 known nonsense c.1200 p.C400* 1.000 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 79 0 0.00 60 4 6.25 BZRAP1 0 genome.wustl.edu 37 17 56393449 56393449 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 17 56393449 56393449 A C SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.2033 p.L678R 0.996 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 tier1 - - 44 0 0.00 27 5 15.62 C11orf85 0 genome.wustl.edu 37 11 64707232 64707232 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 64707232 64707232 C T SNP C11orf85 ENST00000301896 human ensembl 74_37 -1 known missense c.554 p.S185N 0.020 NULL NULL - no_errors C11orf85 HGNC ENSG00000168070 tier1 - - 39 0 0.00 13 7 35.00 C2CD2 0 genome.wustl.edu 37 21 43327823 43327823 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 21 43327823 43327823 C T SNP C2CD2 ENST00000380486 human ensembl 74_37 -1 known silent c.1089 p.T363 0.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom - no_errors C2CD2 HGNC ENSG00000157617 tier1 - - 81 0 0.00 40 5 11.11 C2CD2L 0 genome.wustl.edu 37 11 118982311 118982311 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 118982311 118982311 G A SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known missense c.991 p.E331K 0.954 superfamily_C2_dom superfamily_C2_dom - no_errors C2CD2L HGNC ENSG00000172375 14 0 0.00 5 2 28.57 C2CD3 0 genome.wustl.edu 37 11 73844510 73844510 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 73844510 73844510 G T SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.1048 p.H350N 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 69 0 0.00 51 3 5.56 C3 0 genome.wustl.edu 37 19 6712611 6712611 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 6712611 6712611 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.1027 p.R343C 0.003 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 32 0 0.00 25 7 21.88 C7orf26 0 genome.wustl.edu 37 7 6639485 6639485 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 6639485 6639485 G A SNP C7orf26 ENST00000344417 human ensembl 74_37 +1 known silent c.606 p.L202 1.000 NULL NULL - no_errors C7orf26 HGNC ENSG00000146576 tier1 - - 68 0 0.00 101 6 5.61 C9orf85 0 genome.wustl.edu 37 9 74586497 74586497 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 74586497 74586497 T C SNP C9orf85 ENST00000377031 human ensembl 74_37 +1 known missense c.286 p.C96R 1.000 pfam_DUF2039 pfam_DUF2039 - no_errors C9orf85 HGNC ENSG00000155621 tier1 - - 92 0 0.00 99 21 17.50 CA10 0 genome.wustl.edu 37 17 50212244 50212244 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 17 50212244 50212244 T C SNP CA10 ENST00000340813 human ensembl 74_37 -1 known missense c.74 p.E25G 0.001 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 tier1 - - 60 0 0.00 40 8 16.67 CA4 0 genome.wustl.edu 37 17 58236636 58236636 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 17 58236636 58236636 G T SNP CA4 ENST00000300900 human ensembl 74_37 +1 known missense c.790 p.V264L 0.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA4 HGNC ENSG00000167434 tier1 - - 95 0 0.00 68 4 5.56 CA6 0 genome.wustl.edu 37 1 9027846 9027846 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 9027846 9027846 G A SNP CA6 ENST00000377443 human ensembl 74_37 +1 known missense c.700 p.A234T 0.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA6 HGNC ENSG00000131686 44 0 0.00 36 3 7.69 CACNA2D3 0 genome.wustl.edu 37 3 54930780 54930780 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 54930780 54930780 T G SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.2251 p.F751V 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 tier1 - - 62 0 0.00 49 13 20.97 CAMKK2 0 genome.wustl.edu 37 12 121706470 121706470 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 121706470 121706470 T G SNP CAMKK2 ENST00000324774 human ensembl 74_37 -1 known missense c.596 p.K199T 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKK2 HGNC ENSG00000110931 tier1 - - 72 0 0.00 45 8 15.09 CAMTA1 0 genome.wustl.edu 37 1 7811262 7811262 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 7811262 7811262 G A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.4693 p.A1565T 1.000 superfamily_P-loop_NTPase pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 tier1 - - 43 0 0.00 36 11 23.40 CCDC147 0 genome.wustl.edu 37 10 106209896 106209896 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 106209896 106209896 T C SNP CCDC147 ENST00000369704 human ensembl 74_37 +1 known missense c.2444 p.L815P 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 tier1 - - 44 0 0.00 40 10 20.00 CCDC57 0 genome.wustl.edu 37 17 80141648 80141648 + Splice_Site SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 17 80141648 80141648 A T SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known splice_site c.1211+2 e7+2 0.945 - - - no_errors CCDC57 HGNC ENSG00000176155 tier1 - - 64 0 0.00 44 5 10.20 CCDC85A 0 genome.wustl.edu 37 2 56420200 56420200 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 56420200 56420200 A G SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.865 p.S289G 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 tier1 - - 77 0 0.00 51 12 19.05 CCM2 0 genome.wustl.edu 37 7 45067378 45067378 + Silent SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 45067378 45067378 G T SNP CCM2 ENST00000381112 human ensembl 74_37 +1 known silent c.75 p.G25 0.000 NULL pfscan_PTB/PI_dom - no_errors CCM2 HGNC ENSG00000136280 tier1 - - 32 0 0.00 49 4 7.55 CCND3 0 genome.wustl.edu 37 6 41908691 41908691 + Missense_Mutation SNP C C G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 41908691 41908691 C G SNP CCND3 ENST00000372987 human ensembl 74_37 -1 putative missense c.47 p.R16P 0.962 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCND3 HGNC ENSG00000112576 tier1 - - 41 0 0.00 21 5 19.23 CCSER1 0 genome.wustl.edu 37 4 91234154 91234154 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 91234154 91234154 A G SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.1465 p.R489G 0.987 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 tier1 - - 64 0 0.00 28 15 34.88 CD163L1 0 genome.wustl.edu 37 12 7528130 7528130 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 7528130 7528130 G T SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2748 p.N916K 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 62 0 0.00 55 3 5.17 CDH11 0 genome.wustl.edu 37 16 65026864 65026864 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 65026864 65026864 G A SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known silent c.597 p.Y199 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 67 0 0.00 41 16 28.07 CDH7 0 genome.wustl.edu 37 18 63526247 63526247 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 63526247 63526247 G A SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.1459 p.E487K 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 32 0 0.00 36 2 5.26 CFHR5 0 genome.wustl.edu 37 1 196965228 196965228 + Silent SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 196965228 196965228 T C SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known silent c.939 p.H313 0.959 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 tier1 - - 51 0 0.00 30 20 40.00 CHAC1 0 genome.wustl.edu 37 15 41247939 41247939 + Missense_Mutation SNP C C G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 41247939 41247939 C G SNP CHAC1 ENST00000446533 human ensembl 74_37 +1 known missense c.762 p.F254L 0.997 NULL pfam_ChaC - no_errors CHAC1 HGNC ENSG00000128965 tier1 - - 26 0 0.00 10 3 23.08 CHD7 0 genome.wustl.edu 37 8 61655225 61655225 + Nonsense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 61655225 61655225 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known nonsense c.1234 p.Q412* 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 52 0 0.00 44 3 6.38 CHRM2 0 genome.wustl.edu 37 7 136700565 136700565 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 136700565 136700565 A G SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.953 p.E318G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 43 0 0.00 30 14 31.82 CHRNG 0 genome.wustl.edu 37 2 233410318 233410318 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 233410318 233410318 G A SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known silent c.1446 p.S482 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 tier1 - - 32 0 0.00 31 5 13.89 CHSY3 0 genome.wustl.edu 37 5 129520837 129520837 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 129520837 129520837 A G SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.2002 p.S668G 0.049 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 tier1 - - 48 0 0.00 29 14 32.56 CLCC1 0 genome.wustl.edu 37 1 109486176 109486176 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 109486176 109486176 C T SNP CLCC1 ENST00000356970 human ensembl 74_37 -1 known missense c.623 p.R208H 0.057 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 tier1 rs141116625 - 50 0 0.00 18 12 40.00 CLEC4G 0 genome.wustl.edu 37 19 7795643 7795643 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 7795643 7795643 C T SNP CLEC4G ENST00000328853 human ensembl 74_37 -1 known missense c.386 p.R129H 0.024 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC ENSG00000182566 tier1 - - 19 0 0.00 13 5 27.78 CLEC7A 0 genome.wustl.edu 37 12 10280446 10280446 + Splice_Site SNP T T A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 10280446 10280446 T A SNP CLEC7A ENST00000304084 human ensembl 74_37 -1 known splice_site c.104-2 e2-2 0.222 - - - no_errors CLEC7A HGNC ENSG00000172243 tier1 - - 31 0 0.00 13 11 45.83 CLEC9A 0 genome.wustl.edu 37 12 10194075 10194075 + RNA SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 10194075 10194075 A G SNP CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors CLEC9A HGNC ENSG00000197992 tier1 - - 54 0 0.00 45 9 16.67 CNTN1 0 genome.wustl.edu 37 12 41327548 41327548 + Frame_Shift_Del DEL A A - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 41327548 41327548 A - DEL CNTN1 ENST00000347616 human ensembl 74_37 +1 known frame_shift_del c.853 p.T285fs 0.993 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 tier1 39 0 0.00 36 6 14.29 CNTN6 0 genome.wustl.edu 37 3 1367550 1367550 + Missense_Mutation SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 1367550 1367550 A T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.998 p.D333V 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 43 0 0.00 43 5 10.42 CNTNAP4 0 genome.wustl.edu 37 16 76486645 76486645 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 76486645 76486645 T G SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.1309 p.L437V 0.972 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 tier1 - - 58 0 0.00 39 26 40.00 COIL 0 genome.wustl.edu 37 17 55027375 55027375 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 17 55027375 55027375 G A SNP COIL ENST00000240316 human ensembl 74_37 -1 known missense c.1228 p.R410W 0.994 NULL NULL - no_errors COIL HGNC ENSG00000121058 tier1 - - 71 0 0.00 57 4 6.56 COL12A1 0 genome.wustl.edu 37 6 75841699 75841699 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 75841699 75841699 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.5894 p.R1965H 0.878 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 rs199747984 - 54 0 0.00 35 16 30.77 COL6A1 0 genome.wustl.edu 37 21 47412126 47412126 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 21 47412126 47412126 G A SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.1231 p.D411N 1.000 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 tier1 - - 137 0 0.00 87 7 7.45 COL6A5 0 genome.wustl.edu 37 3 130103862 130103862 + Silent SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 130103862 130103862 A C SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known silent c.1516 p.R506 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 41 0 0.00 24 15 37.50 COL9A2 0 genome.wustl.edu 37 1 40782877 40782877 + RNA SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 40782877 40782877 G A SNP COL9A2 ENST00000495948 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors COL9A2 HGNC ENSG00000049089 tier1 - - 58 0 0.00 46 9 16.36 COPA 0 genome.wustl.edu 37 1 160264608 160264608 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 160264608 160264608 G T SNP COPA ENST00000368069 human ensembl 74_37 -1 known missense c.2543 p.T848N 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 72 0 0.00 61 4 6.15 COPB1 0 genome.wustl.edu 37 11 14510127 14510127 + Silent SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 14510127 14510127 G T SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known silent c.610 p.R204 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 93 0 0.00 57 3 5.00 CPXM2 0 genome.wustl.edu 37 10 125506303 125506303 + Nonsense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 125506303 125506303 G A SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known nonsense c.2248 p.Q750* 0.001 NULL 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 tier1 rs139450310 - 53 0 0.00 43 10 18.87 CRMP1 0 genome.wustl.edu 37 4 5823276 5823276 + RNA SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 5823276 5823276 G T SNP CRMP1 ENST00000511535 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CRMP1 HGNC ENSG00000072832 tier1 - - 30 0 0.00 51 4 7.14 CRMP1 0 genome.wustl.edu 37 4 5837646 5837646 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 5837646 5837646 T C SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1619 p.K540R 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 tier1 - - 88 0 0.00 100 16 13.79 CRTAC1 0 genome.wustl.edu 37 10 99696050 99696050 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 99696050 99696050 G A SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.298 p.R100C 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 tier1 - - 130 0 0.00 68 16 18.60 CSF1R 0 genome.wustl.edu 37 5 149447806 149447808 + In_Frame_Del DEL AGC AGC - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 149447806 149447808 AGC - DEL CSF1R ENST00000286301 human ensembl 74_37 -1 known in_frame_del c.1598_1596 p.L536in_frame_del 0.921:0.978:0.978 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 tier1 47 0 0.00 27 3 10.00 CSMD2 0 genome.wustl.edu 37 1 34042990 34042990 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 34042990 34042990 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.7482 p.N2494 0.003 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 72 0 0.00 66 7 9.59 CTSD 0 genome.wustl.edu 37 11 1775327 1775327 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 1775327 1775327 C T SNP CTSD ENST00000236671 human ensembl 74_37 -1 known missense c.869 p.C290Y 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 tier1 - - 69 0 0.00 47 4 7.84 CXCL14 0 genome.wustl.edu 37 5 134910319 134910319 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 134910319 134910319 T C SNP CXCL14 ENST00000337225 human ensembl 74_37 -1 known missense c.263 p.K88R 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom - no_errors CXCL14 HGNC ENSG00000145824 tier1 - - 87 0 0.00 52 9 14.75 CYLC2 0 genome.wustl.edu 37 9 105767725 105767725 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 105767725 105767725 A C SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.812 p.K271T 0.017 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 tier1 - - 26 0 0.00 30 8 21.05 CYP26B1 0 genome.wustl.edu 37 2 72359392 72359392 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 72359392 72359392 C T SNP CYP26B1 ENST00000001146 human ensembl 74_37 -1 known silent c.1503 p.L501 1.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 tier1 - - 90 0 0.00 56 8 12.50 CYP2A13 0 genome.wustl.edu 37 19 41597814 41597814 + Splice_Site SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 41597814 41597814 G A SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known splice_site c.831+1 e5+1 1.000 - - - no_errors CYP2A13 HGNC ENSG00000197838 tier1 - - 91 0 0.00 105 11 9.48 CYP4F2 0 genome.wustl.edu 37 19 15990622 15990622 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 15990622 15990622 G A SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.1201 p.H401Y 0.048 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 tier1 - - 131 0 0.00 89 7 7.29 DAOA 0 genome.wustl.edu 37 13 106142220 106142220 + Silent SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 13 106142220 106142220 C A SNP DAOA ENST00000595812 human ensembl 74_37 +1 known silent c.168 p.T56 0.000 NULL NULL - no_errors DAOA HGNC ENSG00000182346 tier1 - - 49 0 0.00 47 4 7.84 DARC 0 genome.wustl.edu 37 1 159176207 159176207 + Silent SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 159176207 159176207 T G SNP DARC ENST00000368121 human ensembl 74_37 +1 known silent c.984 p.S328 0.023 NULL prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 tier1 - - 80 0 0.00 57 23 28.75 DCHS2 0 genome.wustl.edu 37 4 155254028 155254028 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 155254028 155254028 A C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.1835 p.L612R 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 19 0 0.00 11 4 26.67 DDI1 0 genome.wustl.edu 37 11 103908222 103908222 + Missense_Mutation SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 103908222 103908222 A T SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.672 p.E224D 1.000 pfam_Peptidase_aspartic_DDI1-type pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 tier1 - - 37 0 0.00 20 9 31.03 DDX1 0 genome.wustl.edu 37 2 15746352 15746352 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 15746352 15746352 G A SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known missense c.781 p.A261T 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 tier1 - - 53 0 0.00 50 4 7.41 DFFB 0 genome.wustl.edu 37 1 3784594 3784594 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 3784594 3784594 C T SNP DFFB ENST00000378209 human ensembl 74_37 +1 known missense c.487 p.R163W 1.000 pfam_Apoptosis_DFF40 pfam_Apoptosis_DFF40,pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors DFFB HGNC ENSG00000169598 tier1 - - 104 0 0.00 77 14 15.38 DGKI 0 genome.wustl.edu 37 7 137237262 137237262 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 137237262 137237262 A C SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.2000 p.V667G 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 tier1 - - 45 0 0.00 40 14 25.93 DGKI 0 genome.wustl.edu 37 7 137339488 137339488 + Nonsense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 137339488 137339488 G T SNP DGKI ENST00000288490 human ensembl 74_37 -1 known nonsense c.728 p.S243* 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 tier1 - - 41 0 0.00 49 4 7.55 DHX9 0 genome.wustl.edu 37 1 182822528 182822528 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 182822528 182822528 G T SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known missense c.452 p.R151I 0.964 NULL pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 46 0 0.00 23 2 8.00 DNHD1 0 genome.wustl.edu 37 11 6578354 6578354 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 6578354 6578354 C T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.7829 p.S2610F 0.001 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 28 0 0.00 17 8 32.00 DNHD1 0 genome.wustl.edu 37 11 6578614 6578616 + In_Frame_Del DEL GAG GAG - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 6578614 6578616 GAG - DEL DNHD1 ENST00000254579 human ensembl 74_37 +1 known in_frame_del c.8089_8091 p.E2700in_frame_del 0.006:0.004:0.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 tier1 29 0 0.00 13 3 18.75 DOCK3 0 genome.wustl.edu 37 3 50816175 50816175 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 50816175 50816175 T C SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.107 p.L36P 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 53 0 0.00 29 4 12.12 DOCK4 0 genome.wustl.edu 37 7 111644111 111644111 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 111644111 111644111 T G SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.113 p.K38T 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 tier1 - - 46 0 0.00 35 21 37.50 DOPEY2 0 genome.wustl.edu 37 21 37609579 37609579 + Frame_Shift_Del DEL G G - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 21 37609579 37609579 G - DEL DOPEY2 ENST00000399151 human ensembl 74_37 +1 known frame_shift_del c.2642 p.W881fs 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 42 0 0.00 17 2 10.53 DSG3 0 genome.wustl.edu 37 18 29055707 29055707 + Silent SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 29055707 29055707 G T SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known silent c.2484 p.V828 0.003 pfam_Cadherin_cytoplasmic-dom,prints_Desmoglein,prints_Desmosomal_cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 54 0 0.00 37 2 5.13 DUSP22 0 genome.wustl.edu 37 6 350907 350907 + RNA SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 350907 350907 T G SNP DUSP22 ENST00000604988 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors DUSP22 HGNC ENSG00000112679 tier1 - - 111 0 0.00 88 19 17.76 EBAG9 0 genome.wustl.edu 37 8 110567089 110567089 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 110567089 110567089 G T SNP EBAG9 ENST00000337573 human ensembl 74_37 +1 known missense c.294 p.M98I 1.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 35 0 0.00 42 3 6.67 EGF 0 genome.wustl.edu 37 4 110904673 110904673 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 110904673 110904673 C A SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.2467 p.L823I 0.518 pirsf_Pro-epidermal_GF pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 tier1 - - 46 0 0.00 42 4 8.70 ELAVL4 0 genome.wustl.edu 37 1 50572048 50572048 + Silent SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 50572048 50572048 A C SNP ELAVL4 ENST00000357083 human ensembl 74_37 +1 known silent c.43 p.R15 1.000 NULL pfam_RRM_dom,smart_RRM_dom,prints_Hud_Sxl_RNA,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 tier1 - - 45 0 0.00 27 5 15.62 ELMO1 0 genome.wustl.edu 37 7 37251073 37251073 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 37251073 37251073 T C SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.1004 p.E335G 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 tier1 - - 62 0 0.00 52 39 42.86 EML6 0 genome.wustl.edu 37 2 55155514 55155514 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 55155514 55155514 T C SNP EML6 ENST00000356458 human ensembl 74_37 +1 novel missense c.3740 p.L1247P 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 20 0 0.00 28 4 12.50 ENSG00000201701 0 genome.wustl.edu 37 3 32079062 32079062 + RNA SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 32079062 32079062 C A SNP ENSG00000201701 ENST00000364831 human ensembl 74_37 +1 novel rna NULL NULL 0.486 - - - no_errors SNORA25 RFAM ENSG00000201701 tier1 - - 32 0 0.00 32 4 11.11 ENSG00000203849 0 genome.wustl.edu 37 1 142713417 142713417 + RNA SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 142713417 142713417 T G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.133 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 - - 126 0 0.00 103 40 27.97 ENSG00000221172 0 genome.wustl.edu 37 8 93647645 93647645 + RNA SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 93647645 93647645 T G SNP ENSG00000221172 ENST00000408245 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC091096.1 Clone_based_ensembl_gene ENSG00000221172 tier1 - - 72 0 0.00 64 9 12.33 ENSG00000221629 0 genome.wustl.edu 37 11 31227354 31227354 + RNA SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 31227354 31227354 A C SNP ENSG00000221629 ENST00000408702 human ensembl 74_37 +1 novel rna NULL NULL 0.081 - - - no_errors AL162614.1 Clone_based_ensembl_gene ENSG00000221629 tier1 - - 122 0 0.00 87 24 21.43 ENSG00000221644 0 genome.wustl.edu 37 8 122199002 122199002 + RNA SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 122199002 122199002 G T SNP ENSG00000221644 ENST00000408717 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AC027238.1 Clone_based_ensembl_gene ENSG00000221644 tier1 - - 53 0 0.00 53 4 7.02 ENSG00000221746 0 genome.wustl.edu 37 1 50447936 50447936 + RNA SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 50447936 50447936 G A SNP ENSG00000221746 ENST00000408819 human ensembl 74_37 +1 novel rna NULL NULL 0.118 - - - no_errors AL645730.1 Clone_based_ensembl_gene ENSG00000221746 tier1 - - 38 0 0.00 25 5 16.67 ENSG00000222692 0 genome.wustl.edu 37 2 51662340 51662340 + RNA SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 51662340 51662340 A C SNP ENSG00000222692 ENST00000410760 human ensembl 74_37 -1 novel rna NULL NULL 0.083 - - - no_errors AC007402.1 Clone_based_ensembl_gene ENSG00000222692 tier1 - - 37 0 0.00 30 4 11.76 ENSG00000224905 0 genome.wustl.edu 37 21 15399751 15399751 + RNA SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 21 15399751 15399751 C T SNP ENSG00000224905 ENST00000428809 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors AP001347.6 Clone_based_vega_gene ENSG00000224905 37 0 0.00 22 5 17.86 ENSG00000232807 0 genome.wustl.edu 37 10 5978919 5978919 + RNA SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 5978919 5978919 G A SNP ENSG00000232807 ENST00000397264 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-536K7.3 Clone_based_vega_gene ENSG00000232807 tier1 - - 40 0 0.00 38 4 9.52 ENSG00000233836 0 genome.wustl.edu 37 19 24014802 24014802 + RNA SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 24014802 24014802 T C SNP ENSG00000233836 ENST00000471224 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-255H23.2 Clone_based_vega_gene ENSG00000233836 tier1 - - 20 0 0.00 39 8 17.02 ENSG00000234864 0 genome.wustl.edu 37 10 43199458 43199458 + RNA SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 43199458 43199458 A C SNP ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 tier1 - - 141 0 0.00 111 42 27.45 ENSG00000253553 0 genome.wustl.edu 37 8 89339272 89339272 + RNA SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 89339272 89339272 C T SNP ENSG00000253553 ENST00000523254 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-586K2.1 Clone_based_vega_gene ENSG00000253553 tier1 - - 37 0 0.00 28 5 15.15 ENSG00000254035 0 genome.wustl.edu 37 5 178396539 178396539 + RNA SNP T T A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 178396539 178396539 T A SNP ENSG00000254035 ENST00000519491 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-281O15.4 Clone_based_vega_gene ENSG00000254035 tier1 - - 101 0 0.00 34 11 24.44 ENSG00000267165 0 genome.wustl.edu 37 18 11852337 11852337 + RNA SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 11852337 11852337 G A SNP ENSG00000267165 ENST00000586474 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-78A19.3 Clone_based_vega_gene ENSG00000267165 tier1 - - 59 0 0.00 35 11 23.91 ENSG00000267165 0 genome.wustl.edu 37 18 11852338 11852338 + RNA SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 11852338 11852338 C T SNP ENSG00000267165 ENST00000586474 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-78A19.3 Clone_based_vega_gene ENSG00000267165 tier1 - - 59 0 0.00 35 11 23.91 EPHA3 0 genome.wustl.edu 37 3 89448604 89448604 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 89448604 89448604 A G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1568 p.K523R 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_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_2,pfam_SAM_type1,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 EPHA3 HGNC ENSG00000044524 tier1 - - 40 0 0.00 36 7 16.28 EPHB6 0 genome.wustl.edu 37 7 142567600 142567600 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 142567600 142567600 C A SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.2488 p.P830T 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,prints_Ser-Thr/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_2,pfam_SAM_type1,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 EPHB6 HGNC ENSG00000106123 tier1 - - 47 0 0.00 40 10 20.00 ERO1LB 0 genome.wustl.edu 37 1 236390006 236390006 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 236390006 236390006 A C SNP ERO1LB ENST00000354619 human ensembl 74_37 -1 known missense c.746 p.L249R 1.000 pfam_Ero1,pirsf_Ero1 pfam_Ero1,pirsf_Ero1 - no_errors ERO1LB HGNC ENSG00000086619 tier1 - - 53 0 0.00 58 15 20.27 EYA2 0 genome.wustl.edu 37 20 45725790 45725790 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 45725790 45725790 G A SNP EYA2 ENST00000327619 human ensembl 74_37 +1 known missense c.871 p.A291T 1.000 pfam_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 tier1 - - 65 0 0.00 59 4 6.35 EYS 0 genome.wustl.edu 37 6 65301485 65301485 + Silent SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 65301485 65301485 A C SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.4275 p.T1425 0.997 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 39 0 0.00 21 4 16.00 FAM178B 0 genome.wustl.edu 37 2 97652055 97652055 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 97652055 97652055 C T SNP FAM178B ENST00000417561 human ensembl 74_37 -1 known silent c.378 p.P126 0.001 NULL NULL - no_errors FAM178B HGNC ENSG00000168754 tier1 - - 35 0 0.00 34 4 10.53 FAM181A 0 genome.wustl.edu 37 14 94394744 94394744 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 14 94394744 94394744 G A SNP FAM181A ENST00000267594 human ensembl 74_37 +1 known missense c.299 p.R100H 1.000 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 tier1 rs144265486 - 67 0 0.00 56 4 6.67 FAM21FP 0 genome.wustl.edu 37 10 46214794 46214794 + RNA SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 46214794 46214794 T G SNP FAM21FP ENST00000608251 human ensembl 74_37 -1 known rna NULL NULL 0.127 - - - no_errors FAM21FP HGNC ENSG00000237840 tier1 - - 83 0 0.00 82 13 13.68 FAM83D 0 genome.wustl.edu 37 20 37555323 37555325 + In_Frame_Del DEL GCG GCG - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 37555323 37555325 GCG - DEL FAM83D ENST00000217429 human ensembl 74_37 +1 known in_frame_del c.328_330 p.A113in_frame_del 0.991:0.983:0.979 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83D HGNC ENSG00000101447 tier1 8 0 0.00 6 3 33.33 FASTKD5 0 genome.wustl.edu 37 20 3128913 3128913 + Nonsense_Mutation SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 3128913 3128913 A T SNP FASTKD5 ENST00000380266 human ensembl 74_37 -1 known nonsense c.804 p.Y268* 0.825 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 tier1 - - 33 0 0.00 24 16 40.00 FAT2 0 genome.wustl.edu 37 5 150901022 150901022 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 150901022 150901022 T C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.11132 p.E3711G 1.000 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 58 0 0.00 53 4 7.02 FAT3 0 genome.wustl.edu 37 11 92534684 92534684 + Silent SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 92534684 92534684 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.8505 p.Q2835 0.983 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 47 0 0.00 24 12 33.33 FAT4 0 genome.wustl.edu 37 4 126328260 126328260 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 126328260 126328260 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5533 p.V1845L 0.949 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 39 0 0.00 24 2 7.69 FBN1 0 genome.wustl.edu 37 15 48784701 48784701 + Nonsense_Mutation SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 48784701 48784701 A T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known nonsense c.2811 p.C937* 0.969 pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 64 0 0.00 47 8 14.55 FBXL13 0 genome.wustl.edu 37 7 102604101 102604101 + Silent SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 102604101 102604101 G T SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known silent c.603 p.S201 0.007 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 tier1 - - 82 0 0.00 52 11 17.46 FCRL3 0 genome.wustl.edu 37 1 157667003 157667003 + Silent SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 157667003 157667003 A G SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known silent c.771 p.S257 0.067 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 74 0 0.00 26 12 31.58 FERD3L 0 genome.wustl.edu 37 7 19184962 19184962 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 19184962 19184962 G A SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known silent c.24 p.C8 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 tier1 - - 75 0 0.00 62 4 6.06 FERD3L 0 genome.wustl.edu 37 7 19184940 19184940 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 19184940 19184940 A C SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known missense c.46 p.F16V 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 74 0 0.00 53 3 5.36 FGB 0 genome.wustl.edu 37 4 155487151 155487151 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 155487151 155487151 G A SNP FGB ENST00000302068 human ensembl 74_37 +1 known silent c.306 p.L102 1.000 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGB HGNC ENSG00000171564 tier1 - - 61 0 0.00 36 7 16.28 FGF23 0 genome.wustl.edu 37 12 4479908 4479908 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 4479908 4479908 C T SNP FGF23 ENST00000237837 human ensembl 74_37 -1 known silent c.357 p.T119 0.014 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF23 HGNC ENSG00000118972 38 0 0.00 25 2 7.41 FHAD1 0 genome.wustl.edu 37 1 15627918 15627918 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 15627918 15627918 T C SNP FHAD1 ENST00000375999 human ensembl 74_37 +1 known missense c.896 p.I299T 0.997 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC ENSG00000142621 tier1 - - 24 0 0.00 17 4 19.05 FIGN 0 genome.wustl.edu 37 2 164467533 164467533 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 164467533 164467533 G A SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.809 p.P270L 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 - - 38 0 0.00 33 4 10.81 FILIP1 0 genome.wustl.edu 37 6 76023058 76023058 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 76023058 76023058 T G SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.2490 p.E830D 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 tier1 - - 66 0 0.00 59 12 16.90 FLG 0 genome.wustl.edu 37 1 152280788 152280788 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 152280788 152280788 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6574 p.K2192Q 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 rs66954353 - 170 0 0.00 116 52 30.77 FLG 0 genome.wustl.edu 37 1 152280795 152280795 + Silent SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 152280795 152280795 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.6567 p.A2189 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 rs148841847 - 163 0 0.00 117 56 32.37 FLT1 0 genome.wustl.edu 37 13 28880827 28880827 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 13 28880827 28880827 G A SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.3803 p.S1268L 0.096 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 tier1 - - 67 0 0.00 39 32 45.07 FLT4 0 genome.wustl.edu 37 5 180048197 180048197 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 180048197 180048197 G A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known silent c.2076 p.S692 0.976 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 94 0 0.00 52 3 5.45 FMN2 0 genome.wustl.edu 37 1 240458167 240458167 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 240458167 240458167 A G SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.4199 p.Q1400R 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 79 0 0.00 44 9 16.98 FOCAD 0 genome.wustl.edu 37 9 20789347 20789347 + RNA SNP C C G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 20789347 20789347 C G SNP FOCAD ENST00000603492 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOCAD HGNC ENSG00000188352 tier1 - - 59 0 0.00 50 5 9.09 FOLH1 0 genome.wustl.edu 37 11 49192783 49192783 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 49192783 49192783 T G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.1272 p.E424D 1.000 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 - - 208 0 0.00 130 33 20.25 FUT9 0 genome.wustl.edu 37 6 96651507 96651507 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 96651507 96651507 G T SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known missense c.476 p.R159L 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 38 0 0.00 37 2 5.00 GALNT15 0 genome.wustl.edu 37 3 16237303 16237303 + Silent SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 16237303 16237303 A C SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known silent c.576 p.T192 0.063 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 tier1 - - 33 0 0.00 27 17 38.64 GALNT15 0 genome.wustl.edu 37 3 16237358 16237358 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 16237358 16237358 G A SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known missense c.631 p.V211I 0.999 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 tier1 - - 46 0 0.00 54 4 6.90 GBE1 0 genome.wustl.edu 37 3 81586214 81586214 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 81586214 81586214 A C SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known missense c.1651 p.F551V 1.000 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 tier1 - - 39 0 0.00 28 4 12.50 GBF1 0 genome.wustl.edu 37 10 104126909 104126909 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 104126909 104126909 T C SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.2498 p.L833P 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 60 0 0.00 27 3 10.00 GCM2 0 genome.wustl.edu 37 6 10875152 10875152 + Missense_Mutation SNP T T A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 10875152 10875152 T A SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known missense c.597 p.Q199H 0.985 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 25 0 0.00 28 2 6.67 GHRHR 0 genome.wustl.edu 37 7 31016045 31016045 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 31016045 31016045 C T SNP GHRHR ENST00000326139 human ensembl 74_37 +1 known missense c.976 p.R326C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1 - no_errors GHRHR HGNC ENSG00000106128 tier1 - - 36 0 0.00 30 7 18.92 GMEB1 0 genome.wustl.edu 37 1 29018137 29018137 + Silent SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 29018137 29018137 T G SNP GMEB1 ENST00000294409 human ensembl 74_37 +1 known silent c.282 p.A94 1.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB1 HGNC ENSG00000162419 tier1 - - 69 0 0.00 45 21 31.82 GMIP 0 genome.wustl.edu 37 19 19745634 19745634 + Missense_Mutation SNP G G C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 19745634 19745634 G C SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.1854 p.D618E 0.747 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 tier1 - - 59 0 0.00 28 10 26.32 GML 0 genome.wustl.edu 37 8 143927913 143927913 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 143927913 143927913 A C SNP GML ENST00000220940 human ensembl 74_37 +1 known missense c.284 p.K95T 0.000 smart_LY6_UPA_recep-like smart_LY6_UPA_recep-like - no_errors GML HGNC ENSG00000104499 tier1 - - 75 0 0.00 57 11 16.18 GNAS 0 genome.wustl.edu 37 20 57467182 57467182 + RNA SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 57467182 57467182 C T SNP GNAS ENST00000476935 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors GNAS HGNC ENSG00000087460 tier1 - - 17 0 0.00 25 7 21.88 GOLGA8M 0 genome.wustl.edu 37 15 28953521 28953521 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 28953521 28953521 T G SNP GOLGA8M ENST00000563027 human ensembl 74_37 -1 novel missense c.348 p.E116D 0.994 NULL NULL - no_errors GOLGA8M HGNC ENSG00000188626 tier1 - - 90 0 0.00 77 11 12.50 GPR37 0 genome.wustl.edu 37 7 124386619 124386619 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 124386619 124386619 C T SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known missense c.1802 p.R601H 0.707 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 34 0 0.00 29 3 9.38 GRIN2A 0 genome.wustl.edu 37 16 9858168 9858168 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 9858168 9858168 T G SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.3233 p.K1078T 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 tier1 - - 73 0 0.00 38 21 35.59 GSR 0 genome.wustl.edu 37 8 30550496 30550496 + Missense_Mutation SNP T T A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 30550496 30550496 T A SNP GSR ENST00000221130 human ensembl 74_37 -1 known missense c.872 p.K291M 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,tigrfam_Glutathione_Rdtase_euk/bac pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Glutathione_Rdtase_euk/bac - no_errors GSR HGNC ENSG00000104687 tier1 - - 41 0 0.00 35 4 10.26 GVINP1 0 genome.wustl.edu 37 11 6736880 6736880 + RNA SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 6736880 6736880 T C SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.783 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 - - 27 0 0.00 32 6 15.79 GZMA 0 genome.wustl.edu 37 5 54403673 54403673 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 54403673 54403673 G T SNP GZMA ENST00000274306 human ensembl 74_37 +1 known missense c.267 p.E89D 0.374 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMA HGNC ENSG00000145649 tier1 - - 56 0 0.00 49 11 18.33 HADH 0 genome.wustl.edu 37 4 108935634 108935634 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 108935634 108935634 C A SNP HADH ENST00000403312 human ensembl 74_37 +1 known missense c.486 p.S162R 1.000 pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_AlaDH/PNT_NAD(H)-bd,pfam_UDP-Glc/GDP-Man_DH_N pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like - no_errors HADH HGNC ENSG00000138796 tier1 - - 73 0 0.00 46 14 23.33 HAS1 0 genome.wustl.edu 37 19 52219540 52219540 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 52219540 52219540 T C SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.1051 p.N351D 1.000 pfam_Chitin_synth_fng pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 tier1 - - 46 0 0.00 28 6 17.65 HCCAT5 0 genome.wustl.edu 37 16 73127474 73127474 + RNA SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 73127474 73127474 C A SNP HCCAT5 ENST00000569990 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors HCCAT5 HGNC ENSG00000260880 tier1 - - 80 0 0.00 34 9 20.93 HECTD3 0 genome.wustl.edu 37 1 45475895 45475895 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 45475895 45475895 C T SNP HECTD3 ENST00000372172 human ensembl 74_37 -1 known missense c.601 p.A201T 0.965 superfamily_Galactose-bd-like pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 26 0 0.00 32 2 5.88 HECW2 0 genome.wustl.edu 37 2 197171869 197171869 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 197171869 197171869 G T SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.2674 p.H892N 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 tier1 - - 84 0 0.00 68 4 5.56 HEPHL1 0 genome.wustl.edu 37 11 93844876 93844876 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 93844876 93844876 A G SNP HEPHL1 ENST00000315765 human ensembl 74_37 +1 known missense c.3296 p.Q1099R 0.014 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPHL1 HGNC ENSG00000181333 51 0 0.00 38 5 11.63 HHATL 0 genome.wustl.edu 37 3 42740347 42740347 + Silent SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 42740347 42740347 G T SNP HHATL ENST00000310417 human ensembl 74_37 -1 known silent c.336 p.G112 1.000 NULL pfam_MBOAT_fam - no_errors HHATL HGNC ENSG00000010282 tier1 - - 23 0 0.00 11 4 26.67 HLCS 0 genome.wustl.edu 37 21 38139568 38139568 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 21 38139568 38139568 C T SNP HLCS ENST00000336648 human ensembl 74_37 -1 known silent c.1470 p.P490 0.022 pfam_BPL_LipA_LipB,tigrfam_Biotin_CoA_COase_ligase pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 tier1 - - 41 0 0.00 38 5 11.63 HMGN5 0 genome.wustl.edu 37 X 80371811 80371811 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 80371811 80371811 T G SNP HMGN5 ENST00000358130 human ensembl 74_37 -1 known missense c.159 p.E53D 0.024 pfam_HMGN_fam,smart_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN5 HGNC ENSG00000198157 tier1 - - 35 0 0.00 30 12 28.57 HNRNPDL 0 genome.wustl.edu 37 4 83350579 83350579 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 83350579 83350579 G T SNP HNRNPDL ENST00000295470 human ensembl 74_37 -1 known missense c.265 p.H89N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 70 0 0.00 64 4 5.88 HOMER1 0 genome.wustl.edu 37 5 78746889 78746889 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 78746889 78746889 T G SNP HOMER1 ENST00000334082 human ensembl 74_37 -1 known missense c.218 p.K73T 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER1 HGNC ENSG00000152413 tier1 - - 106 0 0.00 57 18 24.00 HS3ST1 0 genome.wustl.edu 37 4 11401402 11401402 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 11401402 11401402 C T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known silent c.228 p.L76 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 tier1 - - 44 0 0.00 30 9 23.08 HTR1F 0 genome.wustl.edu 37 3 88039930 88039930 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 88039930 88039930 T G SNP HTR1F ENST00000319595 human ensembl 74_37 +1 known missense c.31 p.L11V 1.000 prints_5HT1F_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 tier1 - - 45 0 0.00 38 11 22.45 IDO2 0 genome.wustl.edu 37 8 39840171 39840171 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 39840171 39840171 G A SNP IDO2 ENST00000502986 human ensembl 74_37 +1 known missense c.355 p.V119I 0.964 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC ENSG00000188676 tier1 - - 50 0 0.00 42 5 10.64 IGSF10 0 genome.wustl.edu 37 3 151160934 151160934 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 151160934 151160934 A C SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.5801 p.M1934R 0.132 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 - - 57 0 0.00 33 6 15.38 IKZF5 0 genome.wustl.edu 37 10 124755553 124755553 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 124755553 124755553 G T SNP IKZF5 ENST00000368886 human ensembl 74_37 -1 known missense c.273 p.S91R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF5 HGNC ENSG00000095574 tier1 - - 122 0 0.00 85 26 23.42 IL12RB2 0 genome.wustl.edu 37 1 67793957 67793957 + Missense_Mutation SNP T T A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 67793957 67793957 T A SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.554 p.I185N 0.674 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 tier1 - - 67 0 0.00 37 6 13.95 IL20 0 genome.wustl.edu 37 1 207039974 207039974 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 207039974 207039974 G A SNP IL20 ENST00000367096 human ensembl 74_37 +1 known missense c.371 p.R124Q 0.995 pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,smart_IL-10/19/20/24/26_fam,prints_IL-20,prints_IL-24 - no_errors IL20 HGNC ENSG00000162891 tier1 - - 24 0 0.00 38 6 13.64 IL7 0 genome.wustl.edu 37 8 79652243 79652243 + Silent SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 79652243 79652243 A G SNP IL7 ENST00000263851 human ensembl 74_37 -1 known silent c.222 p.A74 1.000 pfam_IL-7/IL-9_fam,smart_IL-7,pirsf_IL-7,prints_IL-7 pfam_IL-7/IL-9_fam,smart_IL-7,pirsf_IL-7,prints_IL-7 - no_errors IL7 HGNC ENSG00000104432 tier1 - - 28 0 0.00 25 4 13.79 INSL6 0 genome.wustl.edu 37 9 5185504 5185504 + Nonsense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 5185504 5185504 G T SNP INSL6 ENST00000381641 human ensembl 74_37 -1 known nonsense c.99 p.C33* 1.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6 - no_errors INSL6 HGNC ENSG00000120210 84 0 0.00 49 3 5.77 ITGB6 0 genome.wustl.edu 37 2 161051888 161051888 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 161051888 161051888 G T SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known missense c.585 p.N195K 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 tier1 - - 54 0 0.00 47 7 12.96 IVL 0 genome.wustl.edu 37 1 152883590 152883590 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 152883590 152883590 A C SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.1317 p.Q439H 0.000 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 128 0 0.00 120 41 25.47 JAKMIP2 0 genome.wustl.edu 37 5 147021269 147021269 + Splice_Site SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 147021269 147021269 A G SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known splice_site c.1281+2 e7+2 1.000 - - - no_errors JAKMIP2 HGNC ENSG00000176049 tier1 - - 87 0 0.00 43 5 10.42 KANK1 0 genome.wustl.edu 37 9 730245 730245 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 730245 730245 T C SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.2893 p.Y965H 0.986 smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 67 0 0.00 51 3 5.56 KCNIP4 0 genome.wustl.edu 37 4 21305474 21305474 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 21305474 21305474 A C SNP KCNIP4 ENST00000382150 human ensembl 74_37 -1 known missense c.56 p.V19G 1.000 NULL pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP4 HGNC ENSG00000185774 tier1 - - 39 0 0.00 23 4 14.81 KCNMA1 0 genome.wustl.edu 37 10 78704539 78704539 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 78704539 78704539 T G SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.2906 p.N969T 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 tier1 - - 80 0 0.00 49 7 12.50 KCNQ4 0 genome.wustl.edu 37 1 41283924 41283924 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 41283924 41283924 G A SNP KCNQ4 ENST00000347132 human ensembl 74_37 +1 known missense c.494 p.G165D 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 tier1 - - 77 0 0.00 26 7 21.21 KCNT2 0 genome.wustl.edu 37 1 196451484 196451484 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 196451484 196451484 T G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.301 p.S101R 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 tier1 - - 57 0 0.00 30 17 35.42 KCTD16 0 genome.wustl.edu 37 5 143853371 143853371 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 143853371 143853371 G A SNP KCTD16 ENST00000507359 human ensembl 74_37 +1 known silent c.981 p.T327 0.003 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC ENSG00000183775 tier1 - - 42 0 0.00 19 5 20.83 KCTD19 0 genome.wustl.edu 37 16 67329211 67329211 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 67329211 67329211 A G SNP KCTD19 ENST00000304372 human ensembl 74_37 -1 known missense c.1346 p.L449P 1.000 superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 tier1 - - 96 0 0.00 69 11 13.75 KHDRBS2 0 genome.wustl.edu 37 6 62604553 62604553 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 62604553 62604553 G T SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known missense c.797 p.A266D 0.468 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 57 0 0.00 44 3 6.38 KIAA0947 0 genome.wustl.edu 37 5 5464761 5464761 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 5464761 5464761 A G SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.5314 p.N1772D 0.994 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 tier1 - - 45 0 0.00 60 18 23.08 KIAA2018 0 genome.wustl.edu 37 3 113379312 113379312 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 113379312 113379312 G T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.1217 p.S406Y 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 38 0 0.00 34 2 5.56 KIAA2022 0 genome.wustl.edu 37 X 73963953 73963953 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 73963953 73963953 A C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.439 p.L147V 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 31 0 0.00 6 16 72.73 KIT 0 genome.wustl.edu 37 4 55595599 55595599 + Missense_Mutation SNP C C G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 55595599 55595599 C G SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.2089 p.H697D 0.859 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 tier1 - - 48 0 0.00 41 10 19.61 KLHL1 0 genome.wustl.edu 37 13 70456449 70456449 + Missense_Mutation SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 13 70456449 70456449 A T SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.1193 p.L398H 1.000 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 tier1 - - 48 0 0.00 28 8 22.22 KLHL32 0 genome.wustl.edu 37 6 97533159 97533159 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 97533159 97533159 T G SNP KLHL32 ENST00000369261 human ensembl 74_37 +1 known missense c.569 p.L190R 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL32 HGNC ENSG00000186231 tier1 - - 56 0 0.00 25 11 30.56 KRT1 0 genome.wustl.edu 37 12 53069104 53069104 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 53069104 53069104 C T SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known missense c.1808 p.G603D 0.008 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 tier1 - - 48 0 0.00 39 11 22.00 L3MBTL4 0 genome.wustl.edu 37 18 6171934 6171934 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 6171934 6171934 A C SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.989 p.F330C 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 - - 44 0 0.00 30 16 34.78 LACRT 0 genome.wustl.edu 37 12 55026095 55026095 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 55026095 55026095 C T SNP LACRT ENST00000257867 human ensembl 74_37 -1 known silent c.183 p.Q61 0.000 NULL NULL - no_errors LACRT HGNC ENSG00000135413 tier1 - - 109 0 0.00 91 21 18.75 LAMA1 0 genome.wustl.edu 37 18 6983112 6983112 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 6983112 6983112 T G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.5782 p.T1928P 0.000 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 105 0 0.00 101 11 9.82 LAMA1 0 genome.wustl.edu 37 18 7010267 7010267 + Missense_Mutation SNP C C G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 7010267 7010267 C G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.3805 p.V1269L 0.979 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 76 0 0.00 94 5 5.05 LAMA1 0 genome.wustl.edu 37 18 7038890 7038890 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 7038890 7038890 T G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1482 p.E494D 0.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 65 0 0.00 34 55 61.80 LAMB4 0 genome.wustl.edu 37 7 107696447 107696447 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 107696447 107696447 C A SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.3385 p.D1129Y 0.994 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 tier1 - - 45 0 0.00 36 9 20.00 LDLRAD4-AS1 0 genome.wustl.edu 37 18 13426021 13426021 + RNA SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 13426021 13426021 G A SNP LDLRAD4-AS1 ENST00000588672 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LDLRAD4-AS1 HGNC ENSG00000267690 tier1 - - 76 0 0.00 69 10 12.66 LHCGR 0 genome.wustl.edu 37 2 48915452 48915452 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 48915452 48915452 G T SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.1484 p.S495Y 0.001 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM 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 31 0 0.00 25 2 7.41 LINC00158 0 genome.wustl.edu 37 21 26802219 26802219 + RNA SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 21 26802219 26802219 T G SNP LINC00158 ENST00000332587 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors LINC00158 HGNC ENSG00000185433 tier1 - - 52 0 0.00 18 7 28.00 LINC00174 0 genome.wustl.edu 37 7 65843727 65843727 + RNA SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 65843727 65843727 A C SNP LINC00174 ENST00000421767 human ensembl 74_37 -1 known rna NULL NULL 0.886 - - - no_errors LINC00174 HGNC ENSG00000179406 tier1 - - 9 0 0.00 7 5 38.46 LINC00987 0 genome.wustl.edu 37 12 9394644 9394644 + RNA SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 9394644 9394644 C T SNP LINC00987 ENST00000427111 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors LINC00987 HGNC ENSG00000237248 tier1 - - 54 0 0.00 35 6 14.63 LMBRD1 0 genome.wustl.edu 37 6 70423564 70423564 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 70423564 70423564 T G SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.888 p.K296N 1.000 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 tier1 - - 72 0 0.00 76 15 16.48 LOC100130700 0 genome.wustl.edu 37 16 34739612 34739612 + RNA SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 34739612 34739612 C A SNP LOC100130700 ENST00000562591 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-80F22.15 Clone_based_vega_gene ENSG00000260857 tier1 - - 119 0 0.00 112 9 7.44 LOC100499484 0 genome.wustl.edu 37 9 100052889 100052889 + RNA SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 100052889 100052889 C A SNP LOC100499484 ENST00000375204 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors RP11-23J9.5 Clone_based_vega_gene ENSG00000254876 tier1 - - 70 0 0.00 43 19 30.65 LOC101927079 0 genome.wustl.edu 37 15 22332761 22332761 + RNA SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 22332761 22332761 T G SNP LOC101927079 ENST00000558896 human ensembl 74_37 +1 known rna NULL NULL 0.920 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 tier1 - - 102 0 0.00 52 32 38.10 LOC101927079 0 genome.wustl.edu 37 15 22332690 22332690 + RNA SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 22332690 22332690 T C SNP LOC101927079 ENST00000558896 human ensembl 74_37 +1 known rna NULL NULL 0.809 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 88 0 0.00 58 6 9.38 LOC101927181 0 genome.wustl.edu 37 7 2485937 2485937 + RNA SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 2485937 2485937 G A SNP LOC101927181 ENST00000313156 human ensembl 74_37 +1 known rna NULL NULL 0.041 - - - no_errors AC004840.9 Clone_based_vega_gene ENSG00000175873 tier1 - - 51 0 0.00 58 15 20.55 LOC101927285 0 genome.wustl.edu 37 2 59504879 59504879 + RNA SNP C C G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 59504879 59504879 C G SNP LOC101927285 ENST00000409590 human ensembl 74_37 +1 known rna NULL NULL 0.268 - - - no_errors AC007131.1 Clone_based_vega_gene ENSG00000222030 tier1 rs79136033 - 9 0 0.00 10 5 33.33 LOC154761 0 genome.wustl.edu 37 7 143508563 143508563 + RNA SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 143508563 143508563 A G SNP LOC154761 ENST00000468266 human ensembl 74_37 -1 putative rna NULL NULL 0.012 - - - no_errors RP11-61L23.2 Clone_based_vega_gene ENSG00000253882 tier1 - - 8 0 0.00 1 3 75.00 LOC202181 0 genome.wustl.edu 37 5 177099140 177099140 + RNA SNP T T A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 177099140 177099140 T A SNP LOC202181 ENST00000515045 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors RP11-1277A3.2 Clone_based_vega_gene ENSG00000246596 20 0 0.00 21 4 16.00 LOC283683 0 genome.wustl.edu 37 15 23114224 23114224 + RNA SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 23114224 23114224 C T SNP LOC283683 ENST00000557922 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors RP11-566K19.6 Clone_based_vega_gene ENSG00000259344 tier1 - - 168 0 0.00 168 11 6.15 LOC285556 0 genome.wustl.edu 37 4 100573334 100573334 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 100573334 100573334 T G SNP LOC285556 ENST00000511828 human ensembl 74_37 -1 putative missense c.2472 p.E824D 0.521 NULL NULL - no_errors RP11-766F14.2 Clone_based_vega_gene ENSG00000248713 tier1 - - 113 0 0.00 52 13 20.00 LOC440518 0 genome.wustl.edu 37 19 22786049 22786049 + RNA SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 22786049 22786049 C T SNP LOC440518 ENST00000600260 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors CTC-457E21.3 Clone_based_vega_gene ENSG00000269332 tier1 - - 134 0 0.00 115 14 10.85 LOC441666 0 genome.wustl.edu 37 10 42831838 42831838 + RNA SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 42831838 42831838 T G SNP LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.919 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 - - 90 0 0.00 66 31 31.96 LOC644669 0 genome.wustl.edu 37 18 15316485 15316485 + RNA SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 15316485 15316485 A G SNP LOC644669 ENST00000455308 human ensembl 74_37 -1 known rna NULL NULL 0.392 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 21 0 0.00 17 4 19.05 LPHN2 0 genome.wustl.edu 37 1 82416109 82416109 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 82416109 82416109 T C SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.1435 p.W479R 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 68 0 0.00 51 6 10.53 LRCH4 0 genome.wustl.edu 37 7 100183598 100183598 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 100183598 100183598 C T SNP LRCH4 ENST00000310300 human ensembl 74_37 -1 known silent c.126 p.V42 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 tier1 - - 31 0 0.00 26 4 13.33 LRP1 0 genome.wustl.edu 37 12 57587708 57587708 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 57587708 57587708 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.7831 p.R2611C 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 tier1 - - 83 0 0.00 81 11 11.96 LRP1B 0 genome.wustl.edu 37 2 141004675 141004675 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 141004675 141004675 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13304 p.K4435R 0.998 NULL 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 - - 36 0 0.00 21 15 41.67 LRP1B 0 genome.wustl.edu 37 2 141031998 141031998 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 141031998 141031998 A C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13137 p.F4379L 0.955 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 80 0 0.00 46 22 32.35 LRP1B 0 genome.wustl.edu 37 2 141459350 141459350 + Nonsense_Mutation SNP T T A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 141459350 141459350 T A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.6367 p.R2123* 1.000 NULL 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 - - 47 0 0.00 30 16 34.78 LRP1B 0 genome.wustl.edu 37 2 141812823 141812823 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 141812823 141812823 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.1414 p.S472R 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 - - 39 0 0.00 20 15 42.86 LRRC14 0 genome.wustl.edu 37 8 145745836 145745836 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 145745836 145745836 C T SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known missense c.544 p.R182W 0.807 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 tier1 - - 136 0 0.00 61 23 27.38 LRRC18 0 genome.wustl.edu 37 10 50121941 50121941 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 50121941 50121941 T G SNP LRRC18 ENST00000374160 human ensembl 74_37 -1 known missense c.260 p.K87T 0.990 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 tier1 - - 75 0 0.00 46 25 34.72 LRRC32 0 genome.wustl.edu 37 11 76371615 76371615 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 76371615 76371615 A G SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.1022 p.L341P 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 tier1 - - 85 0 0.00 58 5 7.94 LRRC53 0 genome.wustl.edu 37 1 74945891 74945891 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 74945891 74945891 T C SNP LRRC53 ENST00000294635 human ensembl 74_37 -1 novel missense c.850 p.S284G 0.089 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC ENSG00000162621 tier1 - - 22 0 0.00 19 6 24.00 LRRC6 0 genome.wustl.edu 37 8 133584647 133584647 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 133584647 133584647 T G SNP LRRC6 ENST00000250173 human ensembl 74_37 -1 known missense c.1308 p.K436N 0.000 NULL superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom - no_errors LRRC6 HGNC ENSG00000129295 tier1 - - 91 0 0.00 61 21 25.61 LRRC71 0 genome.wustl.edu 37 1 156896988 156896988 + RNA SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 156896988 156896988 C T SNP LRRC71 ENST00000490146 human ensembl 74_37 +1 known rna NULL NULL 0.082 - - - no_errors LRRC71 HGNC ENSG00000160838 tier1 - - 51 0 0.00 43 4 8.51 LRRIQ1 0 genome.wustl.edu 37 12 85459153 85459153 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 85459153 85459153 C A SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.2505 p.S835R 0.818 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 50 0 0.00 33 17 34.00 LRRK2 0 genome.wustl.edu 37 12 40672053 40672053 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 40672053 40672053 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2231 p.L744S 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 22 0 0.00 24 7 22.58 LRRN3 0 genome.wustl.edu 37 7 110764718 110764718 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 110764718 110764718 G T SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.1890 p.M630I 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 tier1 - - 52 0 0.00 33 8 19.51 LRRN4 0 genome.wustl.edu 37 20 6022692 6022692 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 6022692 6022692 G A SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known missense c.1199 p.A400V 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 tier1 - - 46 0 0.00 41 4 8.89 LSP1 0 genome.wustl.edu 37 11 1888037 1888037 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 1888037 1888037 G T SNP LSP1 ENST00000381775 human ensembl 74_37 +1 putative missense c.333 p.R111S 0.001 NULL pfam_Caldesmon_LSP,prints_Lymphspecific - no_errors LSP1 HGNC ENSG00000130592 tier1 - - 67 0 0.00 53 4 7.02 LY75 0 genome.wustl.edu 37 2 160663488 160663488 + Silent SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 160663488 160663488 A T SNP LY75 ENST00000554112 human ensembl 74_37 -1 known silent c.4986 p.P1662 0.556 superfamily_C-type_lectin_fold pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 tier1 - - 55 0 0.00 41 7 14.58 LYPD5 0 genome.wustl.edu 37 19 44302744 44302744 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 44302744 44302744 G A SNP LYPD5 ENST00000377950 human ensembl 74_37 -1 known missense c.380 p.P127L 0.548 NULL pfam_LY6_UPAR - no_errors LYPD5 HGNC ENSG00000159871 tier1 - - 55 0 0.00 55 8 12.70 MAEL 0 genome.wustl.edu 37 1 166974517 166974517 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 166974517 166974517 T G SNP MAEL ENST00000367872 human ensembl 74_37 +1 known missense c.728 p.L243R 0.840 superfamily_CH-domain pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 tier1 - - 63 0 0.00 32 22 40.74 MAFB 0 genome.wustl.edu 37 20 39316865 39316865 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 39316865 39316865 T C SNP MAFB ENST00000373313 human ensembl 74_37 -1 known missense c.626 p.D209G 1.000 pfam_bZIP_Maf pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFB HGNC ENSG00000204103 tier1 - - 21 0 0.00 19 6 24.00 MAGEB16 0 genome.wustl.edu 37 X 35820811 35820811 + Silent SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 35820811 35820811 T C SNP MAGEB16 ENST00000399992 human ensembl 74_37 +1 known silent c.594 p.F198 0.074 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 tier1 - - 34 0 0.00 9 11 55.00 MAGEC3 0 genome.wustl.edu 37 X 140984237 140984237 + RNA SNP T T A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 140984237 140984237 T A SNP MAGEC3 ENST00000483584 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MAGEC3 HGNC ENSG00000165509 tier1 - - 17 0 0.00 6 11 64.71 MAP3K7 0 genome.wustl.edu 37 6 91246095 91246095 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 91246095 91246095 G A SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known silent c.1317 p.S439 0.998 pirsf_MAPKKK7 pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 46 0 0.00 42 3 6.67 MAP4K4 0 genome.wustl.edu 37 2 102460651 102460651 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 102460651 102460651 C T SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known missense c.1111 p.R371W 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K4 HGNC ENSG00000071054 tier1 - - 35 0 0.00 23 10 30.30 MARK1 0 genome.wustl.edu 37 1 220754431 220754431 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 220754431 220754431 A C SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.280 p.T94P 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_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 tier1 - - 107 0 0.00 80 23 22.33 MC4R 0 genome.wustl.edu 37 18 58039107 58039107 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 58039107 58039107 T G SNP MC4R ENST00000299766 human ensembl 74_37 -1 known missense c.476 p.N159T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 tier1 - - 53 0 0.00 18 13 41.94 MDGA2 0 genome.wustl.edu 37 14 47351346 47351346 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 14 47351346 47351346 A C SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.2317 p.L773V 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 66 0 0.00 43 20 31.75 MED12 0 genome.wustl.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 70360680 70360682 GCA - DEL MED12 ENST00000333646 human ensembl 74_37 +1 known in_frame_del c.6249_6251 p.Q2087in_frame_del 0.997:1.000:1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 tier1 25 0 0.00 16 3 15.79 MEIS1 0 genome.wustl.edu 37 2 66691293 66691293 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 66691293 66691293 C A SNP MEIS1 ENST00000407092 human ensembl 74_37 +1 known missense c.683 p.T228N 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 tier1 - - 61 0 0.00 39 9 18.75 MFI2 0 genome.wustl.edu 37 3 196730925 196730925 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 196730925 196730925 C A SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known missense c.1984 p.D662Y 1.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 tier1 - - 55 0 0.00 54 17 23.94 MFSD2A 0 genome.wustl.edu 37 1 40435485 40435485 + RNA SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 40435485 40435485 G T SNP MFSD2A ENST00000480630 human ensembl 74_37 +1 known rna NULL NULL 0.604 - - - no_errors MFSD2A HGNC ENSG00000168389 tier1 - - 155 0 0.00 93 5 5.10 MICU2 0 genome.wustl.edu 37 13 22178166 22178166 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 13 22178166 22178166 C T SNP MICU2 ENST00000382374 human ensembl 74_37 -1 known missense c.122 p.G41D 0.258 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU2 HGNC ENSG00000165487 tier1 - - 32 0 0.00 33 4 10.81 MIR4435-1HG 0 genome.wustl.edu 37 2 112252464 112252464 + RNA SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 112252464 112252464 G A SNP MIR4435-1HG ENST00000308604 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR4435-1HG HGNC ENSG00000172965 115 0 0.00 80 5 5.88 MIR490 0 genome.wustl.edu 37 7 136849088 136849088 + RNA SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 136849088 136849088 T C SNP MIR490 ENST00000425981 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors hsa-mir-490 miRBase ENSG00000234352 tier1 - - 97 0 0.00 79 29 26.85 MIR513C 0 genome.wustl.edu 37 X 146271286 146271286 + RNA SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 146271286 146271286 T G SNP MIR513C ENST00000401352 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR513C HGNC ENSG00000216171 tier1 - - 43 0 0.00 26 32 55.17 MLLT4 0 genome.wustl.edu 37 6 168323599 168323599 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 168323599 168323599 C T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.2951 p.A984V 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 tier1 - - 65 0 0.00 56 5 8.20 MMRN1 0 genome.wustl.edu 37 4 90857433 90857433 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 90857433 90857433 A C SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.2602 p.K868Q 0.999 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 tier1 - - 54 0 0.00 36 10 21.74 MNX1 0 genome.wustl.edu 37 7 156803027 156803027 + Silent SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 156803027 156803027 A G SNP MNX1 ENST00000252971 human ensembl 74_37 -1 known silent c.18 p.N6 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MNX1 HGNC ENSG00000130675 tier1 - - 74 0 0.00 80 12 13.04 MORC2 0 genome.wustl.edu 37 22 31330171 31330171 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 22 31330171 31330171 G A SNP MORC2 ENST00000397641 human ensembl 74_37 -1 known missense c.2201 p.P734L 0.002 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC ENSG00000133422 tier1 - - 104 0 0.00 60 30 33.33 MT-CO1 0 genome.wustl.edu 37 MT 6138 6138 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 MT 6138 6138 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.235 p.G79S NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 13 0 0.00 29 12 29.27 MT-ND5 0 genome.wustl.edu 37 MT 13048 13048 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 MT 13048 13048 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.712 p.E238K NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 11 0 0.00 6 6 50.00 MTOR 0 genome.wustl.edu 37 1 11177065 11177065 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 11177065 11177065 C T SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.7012 p.D2338N 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 tier1 - - 42 0 0.00 17 11 39.29 MTSS1 0 genome.wustl.edu 37 8 125568580 125568580 + Nonsense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 125568580 125568580 G A SNP MTSS1 ENST00000518547 human ensembl 74_37 -1 known nonsense c.1297 p.R433* 0.988 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 tier1 - - 66 0 0.00 90 7 7.22 MUC16 0 genome.wustl.edu 37 19 9068270 9068270 + Silent SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 9068270 9068270 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.19176 p.T6392 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 82 0 0.00 37 22 37.29 MUC19 0 genome.wustl.edu 37 12 40961521 40961521 + RNA SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 40961521 40961521 T C SNP MUC19 ENST00000460785 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 35 0 0.00 19 11 36.67 MYO18B 0 genome.wustl.edu 37 22 26399252 26399252 + Nonsense_Mutation SNP T T A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 22 26399252 26399252 T A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known nonsense c.6309 p.C2103* 0.013 NULL 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 - - 62 0 0.00 37 4 9.76 MYO1H 0 genome.wustl.edu 37 12 109865375 109865375 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 109865375 109865375 G A SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known missense c.1915 p.E639K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 tier1 - - 116 0 0.00 104 9 7.96 MYT1L 0 genome.wustl.edu 37 2 1926975 1926975 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 1926975 1926975 T G SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.566 p.N189T 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 - - 44 0 0.00 38 6 13.64 NAALAD2 0 genome.wustl.edu 37 11 89880576 89880576 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 89880576 89880576 G T SNP NAALAD2 ENST00000534061 human ensembl 74_37 +1 known missense c.273 p.K91N 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 tier1 - - 98 0 0.00 66 6 8.33 NACA 0 genome.wustl.edu 37 12 57113631 57113631 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 57113631 57113631 C T SNP NACA ENST00000454682 human ensembl 74_37 -1 known silent c.1683 p.P561 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 tier1 - - 67 0 0.00 33 15 31.25 NALCN 0 genome.wustl.edu 37 13 101763024 101763024 + Silent SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 13 101763024 101763024 T G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.2310 p.G770 0.671 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 73 0 0.00 26 15 36.59 NALCN 0 genome.wustl.edu 37 13 101997673 101997673 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 13 101997673 101997673 A C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.743 p.L248R 0.994 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 103 0 0.00 53 23 30.26 NDN 0 genome.wustl.edu 37 15 23931491 23931491 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 23931491 23931491 A G SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.874 p.S292P 0.931 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 tier1 - - 48 0 0.00 44 6 12.00 NEBL 0 genome.wustl.edu 37 10 21076223 21076223 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 21076223 21076223 C T SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.2776 p.G926R 1.000 superfamily_SH3_domain pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 tier1 - - 48 0 0.00 52 8 13.33 NELL1 0 genome.wustl.edu 37 11 20940867 20940867 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 20940867 20940867 A C SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.746 p.K249T 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 tier1 - - 107 0 0.00 70 16 18.60 NETO1 0 genome.wustl.edu 37 18 70451035 70451035 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 70451035 70451035 T G SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.746 p.K249T 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 tier1 - - 51 0 0.00 12 8 40.00 NETO1 0 genome.wustl.edu 37 18 70526302 70526302 + Silent SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 70526302 70526302 T G SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known silent c.228 p.P76 0.976 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 tier1 - - 57 0 0.00 22 7 24.14 NFASC 0 genome.wustl.edu 37 1 204985730 204985730 + RNA SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 204985730 204985730 A C SNP NFASC ENST00000495396 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 83 0 0.00 63 31 32.98 NFASC 0 genome.wustl.edu 37 1 204987647 204987647 + RNA SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 204987647 204987647 A G SNP NFASC ENST00000495396 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 60 0 0.00 43 13 22.81 NFASC 0 genome.wustl.edu 37 1 204955041 204955041 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 204955041 204955041 T G SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.2590 p.Y864D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 13 0 0.00 9 3 25.00 NLGN1 0 genome.wustl.edu 37 3 173996816 173996816 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 173996816 173996816 T G SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.1145 p.L382R 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 tier1 - - 76 0 0.00 45 14 23.73 NOA1 0 genome.wustl.edu 37 4 57839424 57839424 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 57839424 57839424 C T SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known missense c.1405 p.D469N 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 tier1 - - 76 0 0.00 55 4 6.78 NRK 0 genome.wustl.edu 37 X 105181573 105181573 + Silent SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 105181573 105181573 A G SNP NRK ENST00000428173 human ensembl 74_37 +1 known silent c.3801 p.S1267 0.697 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 31 0 0.00 48 3 5.88 NRXN2 0 genome.wustl.edu 37 11 64428468 64428468 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 64428468 64428468 C T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.1942 p.A648T 0.998 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 tier1 - - 62 0 0.00 54 4 6.90 NXF5 0 genome.wustl.edu 37 X 101093213 101093213 + Silent SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 101093213 101093213 T C SNP NXF5 ENST00000263032 human ensembl 74_37 -1 known silent c.819 p.G273 0.768 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 tier1 - - 25 0 0.00 17 25 59.52 OLAH 0 genome.wustl.edu 37 10 15098958 15098958 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 15098958 15098958 T C SNP OLAH ENST00000378217 human ensembl 74_37 +1 known missense c.299 p.L100P 0.052 NULL pfam_Thioesterase - no_errors OLAH HGNC ENSG00000152463 tier1 - - 73 0 0.00 51 9 15.00 OLFM3 0 genome.wustl.edu 37 1 102302454 102302454 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 102302454 102302454 A C SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known missense c.257 p.L86R 1.000 pfam_Noelin-1,superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 tier1 - - 64 0 0.00 52 7 11.86 OPCML 0 genome.wustl.edu 37 11 132290138 132290138 + Silent SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 132290138 132290138 A T SNP OPCML ENST00000541867 human ensembl 74_37 -1 known silent c.1014 p.A338 0.986 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 tier1 - - 43 0 0.00 16 8 33.33 OPN3 0 genome.wustl.edu 37 1 241761155 241761155 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 241761155 241761155 T C SNP OPN3 ENST00000366554 human ensembl 74_37 -1 known missense c.838 p.N280D 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OPN3 HGNC ENSG00000054277 tier1 - - 38 0 0.00 37 7 15.91 OR10J5 0 genome.wustl.edu 37 1 159505541 159505541 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 159505541 159505541 A C SNP OR10J5 ENST00000334857 human ensembl 74_37 -1 known missense c.257 p.I86S 0.134 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC ENSG00000184155 tier1 - - 40 0 0.00 28 16 36.36 OR11H12 0 genome.wustl.edu 37 14 19378261 19378261 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 14 19378261 19378261 T G SNP OR11H12 ENST00000550708 human ensembl 74_37 +1 known missense c.668 p.F223C 0.095 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H12 HGNC ENSG00000257115 tier1 - - 41 0 0.00 47 8 14.55 OR13D1 0 genome.wustl.edu 37 9 107456835 107456835 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 107456835 107456835 T G SNP OR13D1 ENST00000318763 human ensembl 74_37 +1 known missense c.133 p.F45V 0.472 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13D1 HGNC ENSG00000179055 tier1 - - 93 0 0.00 94 19 16.81 OR1J2 0 genome.wustl.edu 37 9 125273131 125273131 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 125273131 125273131 C T SNP OR1J2 ENST00000335302 human ensembl 74_37 +1 known silent c.51 p.L17 0.852 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1J2 HGNC ENSG00000197233 tier1 - - 103 0 0.00 86 25 22.52 OR2AE1 0 genome.wustl.edu 37 7 99474048 99474048 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 99474048 99474048 G T SNP OR2AE1 ENST00000316368 human ensembl 74_37 -1 known missense c.609 p.S203R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AE1 HGNC ENSG00000244623 40 0 0.00 55 3 5.17 OR2L5 0 genome.wustl.edu 37 1 248185344 248185344 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 248185344 248185344 T C SNP OR2L5 ENST00000355281 human ensembl 74_37 +1 known missense c.95 p.L32P 0.146 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L5 HGNC ENSG00000197454 tier1 - - 148 0 0.00 97 20 17.09 OR2T12 0 genome.wustl.edu 37 1 248457939 248457939 + Silent SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 248457939 248457939 A G SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known silent c.942 p.N314 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 tier1 - - 91 0 0.00 57 11 16.18 OR4A5 0 genome.wustl.edu 37 11 51411646 51411646 + Silent SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 51411646 51411646 G T SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known silent c.750 p.P250 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 67 0 0.00 55 3 5.17 OR4C12 0 genome.wustl.edu 37 11 50003726 50003726 + Silent SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 50003726 50003726 A T SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known silent c.312 p.I104 0.787 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 tier1 - - 83 0 0.00 73 10 12.05 OR4C16 0 genome.wustl.edu 37 11 55340513 55340513 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 55340513 55340513 T G SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.910 p.L304V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 tier1 - - 20 0 0.00 25 5 16.67 OR51G1 0 genome.wustl.edu 37 11 4945125 4945125 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 4945125 4945125 T G SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.445 p.S149R 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 OR51G1 HGNC ENSG00000176879 tier1 - - 28 0 0.00 13 9 40.91 OR52A5 0 genome.wustl.edu 37 11 5153403 5153403 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 5153403 5153403 A G SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known missense c.470 p.L157P 0.001 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 OR52A5 HGNC ENSG00000171944 tier1 - - 75 0 0.00 48 10 17.24 OR52K1 0 genome.wustl.edu 37 11 4510952 4510952 + Silent SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 4510952 4510952 C A SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known silent c.822 p.V274 0.037 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K1 HGNC ENSG00000196778 tier1 - - 89 0 0.00 43 9 17.31 OR56A1 0 genome.wustl.edu 37 11 6048648 6048648 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 6048648 6048648 A C SNP OR56A1 ENST00000316650 human ensembl 74_37 -1 known missense c.287 p.L96R 0.003 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 OR56A1 HGNC ENSG00000180934 tier1 - - 80 0 0.00 61 26 29.89 OR5D14 0 genome.wustl.edu 37 11 55563498 55563498 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 55563498 55563498 T G SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.467 p.F156C 0.010 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 tier1 - - 110 0 0.00 71 22 23.66 OR5L1 0 genome.wustl.edu 37 11 55579377 55579377 + Silent SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 55579377 55579377 T G SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known silent c.435 p.A145 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 tier1 - - 72 0 0.00 37 16 30.19 OR7D4 0 genome.wustl.edu 37 19 9324982 9324982 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 9324982 9324982 A C SNP OR7D4 ENST00000308682 human ensembl 74_37 -1 known missense c.532 p.F178V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D4 HGNC ENSG00000174667 tier1 - - 115 0 0.00 80 36 31.03 OTOA 0 genome.wustl.edu 37 16 21716385 21716385 + RNA SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 21716385 21716385 C T SNP OTOA ENST00000569064 human ensembl 74_37 +1 known rna NULL NULL 0.025 - - - no_errors OTOA HGNC ENSG00000155719 tier1 - - 51 0 0.00 46 7 13.21 OTOF 0 genome.wustl.edu 37 2 26683806 26683806 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 26683806 26683806 G A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.5626 p.P1876S 1.000 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 113 0 0.00 61 21 25.61 OTX1 0 genome.wustl.edu 37 2 63283401 63283401 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 63283401 63283401 G A SNP OTX1 ENST00000282549 human ensembl 74_37 +1 known missense c.1015 p.D339N 1.000 NULL pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF - no_errors OTX1 HGNC ENSG00000115507 tier1 - - 88 0 0.00 64 8 11.11 OXR1 0 genome.wustl.edu 37 8 107763096 107763096 + Frame_Shift_Del DEL C C - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 107763096 107763096 C - DEL OXR1 ENST00000442977 human ensembl 74_37 +1 known frame_shift_del c.2552 p.T851fs 1.000 pfam_TLDc,smart_TLDc pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 tier1 102 0 0.00 52 23 30.67 PAPPA2 0 genome.wustl.edu 37 1 176564118 176564118 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 176564118 176564118 T G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.1378 p.F460V 0.077 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 72 0 0.00 43 14 24.14 PARK2 0 genome.wustl.edu 37 6 162683700 162683700 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 162683700 162683700 T G SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known missense c.269 p.N90T 0.000 pirsf_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 tier1 - - 48 0 0.00 25 7 21.88 PCDH15 0 genome.wustl.edu 37 10 55581039 55581039 + RNA SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 55581039 55581039 A C SNP PCDH15 ENST00000463095 human ensembl 74_37 -1 known rna NULL NULL 0.546 - - - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 19 0 0.00 13 7 35.00 PCDH9 0 genome.wustl.edu 37 13 67205467 67205467 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 13 67205467 67205467 T C SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.3215 p.E1072G 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 56 0 0.00 31 5 13.89 PCDHB2 0 genome.wustl.edu 37 5 140476060 140476060 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 140476060 140476060 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.1686 p.F562 0.623 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 tier1 rs17844377 - 204 0 0.00 131 25 15.92 PCDHB6 0 genome.wustl.edu 37 5 140529937 140529937 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 140529937 140529937 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.99 p.S33 0.007 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 70 0 0.00 50 6 10.71 PCLO 0 genome.wustl.edu 37 7 82581892 82581892 + Nonsense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 82581892 82581892 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known nonsense c.8377 p.E2793* 0.373 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 50 0 0.00 52 41 44.09 PCLO 0 genome.wustl.edu 37 7 82585678 82585678 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 82585678 82585678 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.4591 p.T1531P 0.113 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 64 0 0.00 66 19 22.35 PDS5B 0 genome.wustl.edu 37 13 33344580 33344580 + Frame_Shift_Del DEL A A - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 13 33344580 33344580 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.3946 p.K1318fs 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 tier1 22 0 0.00 27 3 10.00 PDYN 0 genome.wustl.edu 37 20 1961103 1961103 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 1961103 1961103 A C SNP PDYN ENST00000217305 human ensembl 74_37 -1 known missense c.631 p.L211V 0.995 prints_Proenkphlin_B pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept - no_errors PDYN HGNC ENSG00000101327 tier1 - - 63 0 0.00 63 31 32.98 PEG10 0 genome.wustl.edu 37 7 94285890 94285890 + RNA SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 94285890 94285890 G A SNP PEG10 ENST00000493935 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PEG10 HGNC ENSG00000242265 tier1 - - 94 0 0.00 63 11 14.86 PEG3 0 genome.wustl.edu 37 19 57325574 57325574 + Silent SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 57325574 57325574 T C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.4236 p.E1412 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 90 0 0.00 63 14 18.18 PEG3 0 genome.wustl.edu 37 19 57327776 57327776 + Silent SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 57327776 57327776 A C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.2034 p.T678 0.240 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 49 0 0.00 25 15 37.50 PET112 0 genome.wustl.edu 37 4 152680021 152680021 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 152680021 152680021 G T SNP PET112 ENST00000263985 human ensembl 74_37 -1 known missense c.230 p.S77Y 1.000 pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Apn/Gln-ADT_bsu pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Apn/Gln-ADT_bsu - no_errors PET112 HGNC ENSG00000059691 tier1 - - 72 0 0.00 32 4 11.11 PGBD2 0 genome.wustl.edu 37 1 249211405 249211407 + In_Frame_Del DEL CAT CAT - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 249211405 249211407 CAT - DEL PGBD2 ENST00000329291 human ensembl 74_37 +1 known in_frame_del c.622_624 p.H210in_frame_del 0.992:0.999:1.000 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 tier1 26 0 0.00 25 4 13.79 PHKA2 0 genome.wustl.edu 37 X 18936849 18936849 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 18936849 18936849 G T SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.2087 p.T696K 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 tier1 - - 25 0 0.00 17 3 15.00 PHKG1 0 genome.wustl.edu 37 7 56149352 56149352 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 56149352 56149352 G A SNP PHKG1 ENST00000452681 human ensembl 74_37 -1 known missense c.985 p.R329W 1.000 superfamily_Kinase-like_dom,prints_Phosph_kin_gamma pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma - no_errors PHKG1 HGNC ENSG00000164776 tier1 - - 74 0 0.00 64 7 9.86 PIK3C2B 0 genome.wustl.edu 37 1 204425171 204425171 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 204425171 204425171 C T SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.1756 p.V586M 0.992 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 tier1 - - 39 0 0.00 36 6 14.29 PIKFYVE 0 genome.wustl.edu 37 2 209190314 209190314 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 209190314 209190314 A G SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.2779 p.S927G 0.009 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 tier1 - - 55 0 0.00 51 9 15.00 PKHD1L1 0 genome.wustl.edu 37 8 110394765 110394765 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 110394765 110394765 A G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.382 p.K128E 0.978 smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 36 0 0.00 31 3 8.82 PLD5 0 genome.wustl.edu 37 1 242277236 242277236 + Silent SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 242277236 242277236 G T SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known silent c.1026 p.I342 0.862 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 64 0 0.00 37 2 5.13 PLEC 0 genome.wustl.edu 37 8 144994186 144994186 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 144994186 144994186 T C SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.10214 p.Q3405R 0.991 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 48 0 0.00 24 17 41.46 PLEKHG3 0 genome.wustl.edu 37 14 65198172 65198172 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 14 65198172 65198172 C T SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.943 p.R315C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 59 0 0.00 74 4 5.13 PLIN4 0 genome.wustl.edu 37 19 4511303 4511303 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 4511303 4511303 A G SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.2627 p.V876A 0.045 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 tier1 - - 111 0 0.00 86 24 21.82 PLIN4 0 genome.wustl.edu 37 19 4511699 4511699 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 4511699 4511699 A G SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.2231 p.V744A 0.002 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 tier1 - - 47 0 0.00 42 7 14.29 PLOD1 0 genome.wustl.edu 37 1 12009874 12009874 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 12009874 12009874 G A SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known silent c.354 p.S118 0.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 tier1 - - 50 0 0.00 41 7 14.58 PLXNA1 0 genome.wustl.edu 37 3 126737155 126737155 + Nonsense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 126737155 126737155 G T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known nonsense c.3679 p.E1227* 0.995 superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,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 PLXNA1 HGNC ENSG00000114554 102 0 0.00 65 4 5.80 PLXNA4 0 genome.wustl.edu 37 7 132174198 132174198 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 132174198 132174198 G T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1224 p.D408E 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,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 PLXNA4 HGNC ENSG00000221866 tier1 - - 51 0 0.00 42 8 16.00 PMCHL1 0 genome.wustl.edu 37 5 22143063 22143063 + RNA SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 22143063 22143063 A C SNP PMCHL1 ENST00000418902 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PMCHL1 HGNC ENSG00000168967 tier1 - - 49 0 0.00 41 6 12.77 POM121L2 0 genome.wustl.edu 37 6 27279045 27279045 + Missense_Mutation SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 27279045 27279045 A T SNP POM121L2 ENST00000444565 human ensembl 74_37 -1 known missense c.905 p.V302E 0.000 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 tier1 - - 32 0 0.00 19 13 39.39 POP4 0 genome.wustl.edu 37 19 30106180 30106180 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 30106180 30106180 G A SNP POP4 ENST00000585603 human ensembl 74_37 +1 known missense c.556 p.V186M 0.996 pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit pfam_RNase_P/MRP_p29,superfamily_Rof/RNase_P-like,smart_RNase_P/MRP_p29,pirsf_RNase_P/MRP_p29-subunit - no_errors POP4 HGNC ENSG00000105171 tier1 - - 53 0 0.00 56 4 6.67 POSTN 0 genome.wustl.edu 37 13 38158981 38158981 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 13 38158981 38158981 T C SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.980 p.N327S 0.998 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 50 0 0.00 40 25 38.46 POTEM 0 genome.wustl.edu 37 14 20020051 20020051 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 14 20020051 20020051 A C SNP POTEM ENST00000547848 human ensembl 74_37 -1 known missense c.170 p.L57R 0.031 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 POTEM HGNC ENSG00000187537 tier1 - - 140 0 0.00 148 12 7.45 POU3F2 0 genome.wustl.edu 37 6 99283090 99283090 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 99283090 99283090 G A SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known missense c.341 p.R114H 1.000 pirsf_Transcription_factor_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 18 0 0.00 15 3 16.67 PPP2R1A 0 genome.wustl.edu 37 19 52716315 52716315 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 52716315 52716315 A C SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.759 p.E253D 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 tier1 - - 23 0 0.00 16 6 27.27 PPRC1 0 genome.wustl.edu 37 10 103899460 103899460 + Nonsense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 103899460 103899460 G T SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known nonsense c.1195 p.E399* 0.036 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 41 0 0.00 30 2 6.25 PRR16 0 genome.wustl.edu 37 5 120021940 120021940 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 120021940 120021940 G T SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known missense c.451 p.G151C 1.000 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 48 0 0.00 36 2 5.26 PSMD1 0 genome.wustl.edu 37 2 231927340 231927340 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 231927340 231927340 G A SNP PSMD1 ENST00000308696 human ensembl 74_37 +1 known silent c.255 p.G85 0.996 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 53 0 0.00 56 3 5.08 PSMD14 0 genome.wustl.edu 37 2 162267813 162267813 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 162267813 162267813 G A SNP PSMD14 ENST00000409682 human ensembl 74_37 +1 known missense c.835 p.D279N 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors PSMD14 HGNC ENSG00000115233 tier1 - - 58 0 0.00 62 6 8.82 PSMD6 0 genome.wustl.edu 37 3 64005037 64005037 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 64005037 64005037 G A SNP PSMD6 ENST00000295901 human ensembl 74_37 -1 known silent c.432 p.L144 0.999 pfam_26S_proteasome_reg_su-Rpn7 pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors PSMD6 HGNC ENSG00000163636 tier1 - - 64 0 0.00 66 9 11.84 PSMG1 0 genome.wustl.edu 37 21 40551881 40551881 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 21 40551881 40551881 G T SNP PSMG1 ENST00000331573 human ensembl 74_37 -1 known missense c.425 p.A142E 0.997 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC ENSG00000183527 tier1 - - 49 0 0.00 19 3 13.64 PTCHD2 0 genome.wustl.edu 37 1 11596444 11596444 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 11596444 11596444 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.3880 p.V1294I 1.000 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 92 0 0.00 58 10 14.71 PTGDS 0 genome.wustl.edu 37 9 139874722 139874722 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 139874722 139874722 T C SNP PTGDS ENST00000224167 human ensembl 74_37 +1 known missense c.638 p.F213S 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth - no_errors PTGDS HGNC ENSG00000107317 tier1 - - 124 0 0.00 126 8 5.97 PTGS1 0 genome.wustl.edu 37 9 125154752 125154752 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 125154752 125154752 G A SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known missense c.1729 p.V577I 1.000 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 tier1 - - 80 0 0.00 44 8 15.38 PTGS1 0 genome.wustl.edu 37 9 125148852 125148852 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 125148852 125148852 G T SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known missense c.1137 p.E379D 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 70 0 0.00 56 3 5.08 PTP4A1 0 genome.wustl.edu 37 6 64289213 64289213 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 64289213 64289213 A C SNP PTP4A1 ENST00000370651 human ensembl 74_37 +1 known missense c.381 p.E127D 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A1 HGNC ENSG00000112245 tier1 - - 64 0 0.00 61 8 11.59 PTPN13 0 genome.wustl.edu 37 4 87693997 87693997 + Silent SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 87693997 87693997 T G SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known silent c.5250 p.A1750 0.002 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 81 0 0.00 38 16 29.63 PTPN4 0 genome.wustl.edu 37 2 120704130 120704130 + Nonsense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 120704130 120704130 C T SNP PTPN4 ENST00000263708 human ensembl 74_37 +1 known nonsense c.1636 p.R546* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_PDZ pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 tier1 - - 70 0 0.00 49 26 34.67 PTPRS 0 genome.wustl.edu 37 19 5265039 5265039 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 5265039 5265039 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.548 p.R183H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 46 0 0.00 47 4 7.84 PTPRT 0 genome.wustl.edu 37 20 40944511 40944511 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 40944511 40944511 A C SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1991 p.F664C 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 91 0 0.00 56 25 30.86 RAB11B 0 genome.wustl.edu 37 19 8467047 8467047 + Nonsense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 8467047 8467047 G A SNP RAB11B ENST00000328024 human ensembl 74_37 +1 known nonsense c.314 p.W105* 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB11B HGNC ENSG00000185236 tier1 - - 39 0 0.00 24 5 17.24 RAB11FIP2 0 genome.wustl.edu 37 10 119805614 119805614 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 119805614 119805614 G T SNP RAB11FIP2 ENST00000369199 human ensembl 74_37 -1 known missense c.61 p.Q21K 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP2 HGNC ENSG00000107560 tier1 - - 73 0 0.00 52 4 7.14 RAB21 0 genome.wustl.edu 37 12 72164387 72164387 + Missense_Mutation SNP G G C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 72164387 72164387 G C SNP RAB21 ENST00000261263 human ensembl 74_37 +1 known missense c.235 p.E79Q 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB21 HGNC ENSG00000080371 tier1 - - 35 0 0.00 17 7 28.00 RAB7A 0 genome.wustl.edu 37 3 128526498 128526498 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 128526498 128526498 G A SNP RAB7A ENST00000265062 human ensembl 74_37 +1 known missense c.512 p.R171Q 1.000 pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB7A HGNC ENSG00000075785 tier1 - - 41 0 0.00 30 4 11.76 RALGAPA2 0 genome.wustl.edu 37 20 20484080 20484080 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 20484080 20484080 G A SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.5123 p.P1708L 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 tier1 - - 53 0 0.00 20 6 23.08 RANBP17 0 genome.wustl.edu 37 5 170722912 170722912 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 170722912 170722912 A C SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.3064 p.S1022R 0.382 NULL pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 tier1 - - 65 0 0.00 42 15 26.32 RAPGEF2 0 genome.wustl.edu 37 4 160275112 160275112 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 160275112 160275112 T C SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.4082 p.L1361P 0.942 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 48 0 0.00 24 2 7.69 RASGRP4 0 genome.wustl.edu 37 19 38905746 38905746 + Silent SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 38905746 38905746 A G SNP RASGRP4 ENST00000587738 human ensembl 74_37 -1 known silent c.972 p.T324 0.198 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 45 0 0.00 32 4 10.81 RBFA 0 genome.wustl.edu 37 18 77805976 77805976 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 77805976 77805976 C T SNP RBFA ENST00000306735 human ensembl 74_37 +1 known missense c.853 p.R285C 0.000 NULL pfam_Ribosome-bd_facA,superfamily_Ribosome-bd_facA_dom - no_errors RBFA HGNC ENSG00000101546 tier1 - - 54 0 0.00 37 11 22.92 RBM27 0 genome.wustl.edu 37 5 145610441 145610441 + Nonsense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 145610441 145610441 C T SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known nonsense c.811 p.R271* 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 tier1 - - 48 0 0.00 25 10 28.57 REC8 0 genome.wustl.edu 37 14 24641929 24641929 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 14 24641929 24641929 G T SNP REC8 ENST00000311457 human ensembl 74_37 +1 known missense c.64 p.A22S 0.808 pfam_Rad21_Rec8_N pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu - no_errors REC8 HGNC ENSG00000100918 tier1 - - 70 0 0.00 60 12 16.67 RETN 0 genome.wustl.edu 37 19 7734758 7734758 + Frame_Shift_Del DEL G G - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 7734758 7734758 G - DEL RETN ENST00000221515 human ensembl 74_37 +1 known frame_shift_del c.170 p.D59fs 0.709 pfam_Resistin,superfamily_Resistin pfam_Resistin,superfamily_Resistin - no_errors RETN HGNC ENSG00000104918 tier1 46 0 0.00 29 2 6.45 RFX6 0 genome.wustl.edu 37 6 117237390 117237390 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 117237390 117237390 G T SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.885 p.W295C 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 tier1 - - 62 0 0.00 47 9 16.07 RGMA 0 genome.wustl.edu 37 15 93588441 93588441 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 93588441 93588441 G A SNP RGMA ENST00000329082 human ensembl 74_37 -1 known silent c.1140 p.F380 0.998 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors RGMA HGNC ENSG00000182175 tier1 - - 51 0 0.00 66 6 8.33 RIMS1 0 genome.wustl.edu 37 6 73108705 73108705 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 73108705 73108705 A G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4769 p.K1590R 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 77 0 0.00 53 7 11.67 RIMS2 0 genome.wustl.edu 37 8 104780597 104780597 + RNA SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 104780597 104780597 A C SNP RIMS2 ENST00000395361 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 22 0 0.00 22 7 24.14 RIMS2 0 genome.wustl.edu 37 8 105263839 105263839 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 105263839 105263839 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3841 p.W1281R 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 54 0 0.00 47 9 16.07 RIN2 0 genome.wustl.edu 37 20 19981543 19981543 + Frame_Shift_Del DEL T T - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 19981543 19981543 T - DEL RIN2 ENST00000255006 human ensembl 74_37 +1 known frame_shift_del c.2798 p.F934fs 0.631 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 tier1 46 0 0.00 35 2 5.41 RLN3 0 genome.wustl.edu 37 19 14139096 14139096 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 14139096 14139096 C T SNP RLN3 ENST00000431365 human ensembl 74_37 +1 known missense c.80 p.A27V 0.001 superfamily_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family - no_errors RLN3 HGNC ENSG00000171136 tier1 - - 141 0 0.00 95 16 14.16 RNASEH2A 0 genome.wustl.edu 37 19 12918292 12918292 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 12918292 12918292 C T SNP RNASEH2A ENST00000221486 human ensembl 74_37 +1 known missense c.383 p.A128V 0.990 pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA - no_errors RNASEH2A HGNC ENSG00000104889 tier1 - - 49 0 0.00 59 4 6.35 RNF5 0 genome.wustl.edu 37 6 32147865 32147865 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 32147865 32147865 C T SNP RNF5 ENST00000427134 human ensembl 74_37 +1 known missense c.407 p.T136I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF5 HGNC ENSG00000204308 44 0 0.00 32 3 8.57 ROBO1 0 genome.wustl.edu 37 3 78685023 78685023 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 78685023 78685023 G A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known silent c.3273 p.S1091 0.115 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 tier1 - - 82 0 0.00 63 26 28.89 ROBO2 0 genome.wustl.edu 37 3 77626728 77626728 + Missense_Mutation SNP C C G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 77626728 77626728 C G SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.2291 p.P764R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 49 0 0.00 35 7 16.67 RP1 0 genome.wustl.edu 37 8 55540671 55540671 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 55540671 55540671 T G SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.4229 p.L1410R 0.003 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 42 0 0.00 45 4 8.16 RPS6KC1 0 genome.wustl.edu 37 1 213414381 213414381 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 213414381 213414381 A G SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known missense c.1562 p.Q521R 1.000 NULL pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 21 0 0.00 29 4 12.12 RSPO4 0 genome.wustl.edu 37 20 941070 941070 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 941070 941070 C T SNP RSPO4 ENST00000217260 human ensembl 74_37 -1 known missense c.635 p.R212H 0.454 NULL superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO4 HGNC ENSG00000101282 tier1 - - 91 0 0.00 51 29 35.80 RTCB 0 genome.wustl.edu 37 22 32795674 32795674 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 22 32795674 32795674 C A SNP RTCB ENST00000216038 human ensembl 74_37 -1 known missense c.570 p.K190N 1.000 pfam_RtcB,superfamily_RtcB pfam_RtcB,superfamily_RtcB - no_errors RTCB HGNC ENSG00000100220 tier1 - - 81 0 0.00 73 13 15.12 RTEL1 0 genome.wustl.edu 37 20 62326237 62326237 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 62326237 62326237 G T SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.3253 p.A1085S 0.000 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 tier1 - - 48 0 0.00 23 17 42.50 RYR2 0 genome.wustl.edu 37 1 237604648 237604648 + Silent SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 237604648 237604648 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.1029 p.E343 0.997 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 51 0 0.00 25 19 43.18 RYR3 0 genome.wustl.edu 37 15 33922209 33922209 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 33922209 33922209 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.2748 p.K916 1.000 pfam_Ryanodine_rcpt pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 56 0 0.00 32 6 15.79 RYR3 0 genome.wustl.edu 37 15 34102717 34102717 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 34102717 34102717 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.10064 p.R3355Q 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 41 0 0.00 18 4 18.18 S1PR5 0 genome.wustl.edu 37 19 10624956 10624956 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 10624956 10624956 C T SNP S1PR5 ENST00000333430 human ensembl 74_37 -1 known silent c.732 p.P244 0.206 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 tier1 - - 45 0 0.00 39 4 9.30 SALL3 0 genome.wustl.edu 37 18 76753580 76753580 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 76753580 76753580 T G SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1589 p.L530R 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 tier1 - - 54 0 0.00 27 12 30.77 SAMSN1 0 genome.wustl.edu 37 21 15872860 15872860 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 21 15872860 15872860 A C SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known missense c.758 p.I253S 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SAM,pfscan_SAM pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 tier1 - - 89 0 0.00 56 15 21.13 SART3 0 genome.wustl.edu 37 12 108938242 108938242 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 108938242 108938242 G T SNP SART3 ENST00000228284 human ensembl 74_37 -1 known missense c.742 p.H248N 1.000 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 tier1 - - 64 0 0.00 64 4 5.88 SATB2 0 genome.wustl.edu 37 2 200213845 200213845 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 200213845 200213845 C T SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.752 p.R251H 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 tier1 - - 106 0 0.00 97 6 5.83 SCARA5 0 genome.wustl.edu 37 8 27779320 27779320 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 27779320 27779320 G A SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known silent c.684 p.R228 0.364 NULL pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 13 0 0.00 15 5 25.00 SCN9A 0 genome.wustl.edu 37 2 167159806 167159806 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 167159806 167159806 T G SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.698 p.K233T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 44 0 0.00 38 7 15.56 SEMA5A 0 genome.wustl.edu 37 5 9190519 9190519 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 9190519 9190519 T G SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.1133 p.K378T 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 tier1 - - 36 0 0.00 17 5 22.73 SEMA6D 0 genome.wustl.edu 37 15 48063701 48063701 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 48063701 48063701 T G SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.2941 p.L981V 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 tier1 - - 62 0 0.00 38 6 13.64 SGSH 0 genome.wustl.edu 37 17 78185909 78185909 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 17 78185909 78185909 G T SNP SGSH ENST00000326317 human ensembl 74_37 -1 known missense c.910 p.R304S 0.998 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors SGSH HGNC ENSG00000181523 46 0 0.00 55 5 8.33 SIGMAR1 0 genome.wustl.edu 37 9 34636882 34636882 + RNA SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 34636882 34636882 A G SNP SIGMAR1 ENST00000478146 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SIGMAR1 HGNC ENSG00000147955 tier1 - - 48 0 0.00 24 6 20.00 SIM1 0 genome.wustl.edu 37 6 100838294 100838294 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 100838294 100838294 T G SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.2244 p.Q748H 1.000 NULL pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 tier1 - - 89 0 0.00 53 30 36.14 SIRT6 0 genome.wustl.edu 37 19 4175147 4175147 + Missense_Mutation SNP T T A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 4175147 4175147 T A SNP SIRT6 ENST00000337491 human ensembl 74_37 -1 known missense c.616 p.N206Y 0.991 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT6 HGNC ENSG00000077463 tier1 - - 26 0 0.00 18 6 25.00 SKIV2L2 0 genome.wustl.edu 37 5 54696074 54696074 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 54696074 54696074 G A SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.2306 p.R769H 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 tier1 - - 94 0 0.00 80 5 5.88 SLC15A5 0 genome.wustl.edu 37 12 16425513 16425514 + Frame_Shift_Ins INS - - T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 16425513 16425514 - T INS SLC15A5 ENST00000344941 human ensembl 74_37 -1 novel frame_shift_ins c.566_565 p.T189fs 0.000:0.152 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A5 HGNC ENSG00000188991 tier1 48 0 0.00 27 5 15.62 SLC29A4 0 genome.wustl.edu 37 7 5336639 5336639 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 5336639 5336639 C T SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known missense c.692 p.T231M 0.998 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 tier1 - - 85 0 0.00 89 10 10.10 SLC2A12 0 genome.wustl.edu 37 6 134312398 134312400 + In_Frame_Del DEL TTC TTC - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 134312398 134312400 TTC - DEL SLC2A12 ENST00000275230 human ensembl 74_37 -1 known in_frame_del c.1749_1747 p.E583in_frame_del 1.000:1.000:1.000 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 tier1 109 0 0.00 74 35 32.11 SLC35F2 0 genome.wustl.edu 37 11 107673781 107673781 + Silent SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 107673781 107673781 G T SNP SLC35F2 ENST00000429869 human ensembl 74_37 -1 known silent c.885 p.I295 1.000 pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom - no_errors SLC35F2 HGNC ENSG00000110660 85 0 0.00 53 4 7.02 SLC6A10P 0 genome.wustl.edu 37 16 32890751 32890751 + Splice_Site SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 32890751 32890751 C T SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors SLC6A10P HGNC ENSG00000214617 147 0 0.00 99 8 7.48 SLC7A3 0 genome.wustl.edu 37 X 70147798 70147798 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 70147798 70147798 G A SNP SLC7A3 ENST00000298085 human ensembl 74_37 -1 known missense c.893 p.A298V 0.998 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 tier1 - - 21 0 0.00 15 4 21.05 SLC8A1 0 genome.wustl.edu 37 2 40657254 40657254 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 40657254 40657254 T G SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.167 p.K56T 1.000 prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 tier1 - - 40 0 0.00 28 13 31.71 SLCO1B3 0 genome.wustl.edu 37 12 21011399 21011399 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 21011399 21011399 A C SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.253 p.S85R 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 108 0 0.00 68 41 37.61 SLCO1B7 0 genome.wustl.edu 37 12 21172304 21172304 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 21172304 21172304 T G SNP SLCO1B7 ENST00000421593 human ensembl 74_37 +1 known missense c.208 p.F70V 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 tier1 - - 118 0 0.00 89 25 21.93 SLCO6A1 0 genome.wustl.edu 37 5 101816047 101816047 + Splice_Site SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 101816047 101816047 A C SNP SLCO6A1 ENST00000514551 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.045 - - - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 57 0 0.00 35 7 16.67 SLITRK2 0 genome.wustl.edu 37 X 144905921 144905921 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 144905921 144905921 T G SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.1978 p.L660V 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 tier1 - - 25 0 0.00 8 24 75.00 SLX4 0 genome.wustl.edu 37 16 3642792 3642792 + Silent SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 3642792 3642792 G T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known silent c.2235 p.T745 0.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 tier1 - - 51 0 0.00 31 4 11.43 SMARCAD1 0 genome.wustl.edu 37 4 95200104 95200104 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 95200104 95200104 T C SNP SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known missense c.2327 p.V776A 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 tier1 rs112326108 - 66 0 0.00 41 5 10.87 SMPD2 0 genome.wustl.edu 37 6 109763198 109763198 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 109763198 109763198 C T SNP SMPD2 ENST00000258052 human ensembl 74_37 +1 known silent c.246 p.L82 0.996 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD2 HGNC ENSG00000135587 tier1 - - 57 0 0.00 71 4 5.33 SNAP47 0 genome.wustl.edu 37 1 227921505 227921505 + RNA SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 227921505 227921505 T C SNP SNAP47 ENST00000480265 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNAP47 HGNC ENSG00000143740 tier1 - - 60 0 0.00 68 5 6.85 SNHG14 0 genome.wustl.edu 37 15 25427611 25427611 + RNA SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 25427611 25427611 C T SNP SNHG14 ENST00000365306 human ensembl 74_37 +1 known rna NULL NULL 0.920 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 66 0 0.00 87 7 7.37 SNHG14 0 genome.wustl.edu 37 15 25430680 25430680 + RNA SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 25430680 25430680 T G SNP SNHG14 ENST00000424208 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 39 0 0.00 33 18 34.62 SNHG14 0 genome.wustl.edu 37 15 25438367 25438367 + RNA SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 25438367 25438367 A G SNP SNHG14 ENST00000414175 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 49 0 0.00 52 6 10.34 SNRPN 0 genome.wustl.edu 37 15 25219561 25219561 + RNA SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 25219561 25219561 A C SNP SNRPN ENST00000553597 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNRPN HGNC ENSG00000128739 tier1 - - 90 0 0.00 45 22 32.84 SNRPN 0 genome.wustl.edu 37 15 25223584 25223584 + Missense_Mutation SNP G G C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 25223584 25223584 G C SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.728 p.R243T 1.000 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 tier1 - - 31 0 0.00 17 4 19.05 SNTG1 0 genome.wustl.edu 37 8 51503460 51503460 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 51503460 51503460 T G SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.832 p.F278V 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 tier1 - - 111 0 0.00 100 15 12.93 SOX11 0 genome.wustl.edu 37 2 5833994 5833994 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 5833994 5833994 C T SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known silent c.1141 p.L381 1.000 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 tier1 - - 47 0 0.00 48 14 22.58 SPATA31A1 0 genome.wustl.edu 37 9 39360840 39360840 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 39360840 39360840 A C SNP SPATA31A1 ENST00000377647 human ensembl 74_37 +1 known missense c.3078 p.Q1026H 0.001 NULL NULL - no_errors SPATA31A1 HGNC ENSG00000204849 tier1 - - 39 0 0.00 34 9 20.93 SPATA31D4 0 genome.wustl.edu 37 9 84547525 84547525 + RNA SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 84547525 84547525 A G SNP SPATA31D4 ENST00000341875 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPATA31D4 HGNC ENSG00000189357 tier1 - - 85 0 0.00 85 12 12.37 SPEF2 0 genome.wustl.edu 37 5 35800171 35800171 + Silent SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 35800171 35800171 A G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known silent c.4932 p.G1644 0.634 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 72 0 0.00 39 40 50.63 SPHKAP 0 genome.wustl.edu 37 2 228881930 228881930 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 228881930 228881930 G A SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.3640 p.R1214W 0.002 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 27 0 0.00 15 2 11.76 SPRED2 0 genome.wustl.edu 37 2 65540839 65540839 + Nonsense_Mutation SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 65540839 65540839 A T SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known nonsense c.1053 p.Y351* 0.993 pfam_Sprouty pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 tier1 - - 81 0 0.00 49 8 14.04 STAB1 0 genome.wustl.edu 37 3 52547774 52547774 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 52547774 52547774 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known silent c.3312 p.L1104 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 - - 23 0 0.00 12 3 20.00 STAB2 0 genome.wustl.edu 37 12 104098353 104098353 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 104098353 104098353 C T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known silent c.3861 p.C1287 0.649 superfamily_Growth_fac_rcpt_N_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 63 0 0.00 45 9 16.67 STAMBP 0 genome.wustl.edu 37 2 74058030 74058030 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 74058030 74058030 G A SNP STAMBP ENST00000339566 human ensembl 74_37 +1 known missense c.47 p.R16K 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBP HGNC ENSG00000124356 tier1 - - 52 0 0.00 46 18 28.12 STAT2 0 genome.wustl.edu 37 12 56744894 56744894 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 56744894 56744894 G A SNP STAT2 ENST00000314128 human ensembl 74_37 -1 known missense c.1022 p.T341I 0.995 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 52 0 0.00 47 5 9.62 STEAP2 0 genome.wustl.edu 37 7 89859343 89859343 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 89859343 89859343 T C SNP STEAP2 ENST00000287908 human ensembl 74_37 +1 known missense c.1178 p.F393S 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 tier1 - - 60 0 0.00 73 14 15.91 SULF1 0 genome.wustl.edu 37 8 70512986 70512986 + Silent SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 70512986 70512986 A C SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known silent c.883 p.R295 1.000 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 tier1 - - 76 0 0.00 56 21 27.27 SYNE1 0 genome.wustl.edu 37 6 152472789 152472789 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 152472789 152472789 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.24349 p.R8117W 0.987 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 rs144056525 - 48 0 0.00 50 6 10.71 SYNE1 0 genome.wustl.edu 37 6 152542686 152542686 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 152542686 152542686 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.21531 p.Q7177H 0.993 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 49 0 0.00 27 21 43.75 SYTL4 0 genome.wustl.edu 37 X 99930886 99930887 + RNA INS - - AC TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 99930886 99930887 - AC INS SYTL4 ENST00000491602 human ensembl 74_37 -1 known rna NULL NULL 0.041:0.081 - - - no_errors SYTL4 HGNC ENSG00000102362 tier1 8 0 0.00 9 5 35.71 TBCD 0 genome.wustl.edu 37 17 80895742 80895742 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 17 80895742 80895742 T G SNP TBCD ENST00000539345 human ensembl 74_37 +1 novel missense c.3302 p.L1101R 0.001 NULL pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 tier1 - - 59 0 0.00 27 11 28.95 TBP 0 genome.wustl.edu 37 6 170873672 170873672 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 170873672 170873672 C A SNP TBP ENST00000230354 human ensembl 74_37 +1 known missense c.537 p.D179E 1.000 pfam_TBP,prints_TBP pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 tier1 - - 53 0 0.00 20 18 47.37 TBX22 0 genome.wustl.edu 37 X 79278078 79278078 + RNA SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 79278078 79278078 A C SNP TBX22 ENST00000476373 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TBX22 HGNC ENSG00000122145 tier1 - - 10 0 0.00 7 6 46.15 TCEAL2 0 genome.wustl.edu 37 X 101382465 101382465 + Silent SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 101382465 101382465 T G SNP TCEAL2 ENST00000329035 human ensembl 74_37 +1 known silent c.663 p.T221 0.000 NULL pfam_TF_A-like/BEX-like - no_errors TCEAL2 HGNC ENSG00000184905 tier1 - - 38 0 0.00 20 13 39.39 TELO2 0 genome.wustl.edu 37 16 1547508 1547508 + Missense_Mutation SNP G G C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 1547508 1547508 G C SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.829 p.G277R 0.867 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 tier1 - - 42 0 0.00 23 4 14.81 TESPA1 0 genome.wustl.edu 37 12 55360978 55360978 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 55360978 55360978 A G SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.299 p.L100P 0.940 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 41 0 0.00 23 3 11.54 TG 0 genome.wustl.edu 37 8 134042140 134042140 + Nonsense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 134042140 134042140 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known nonsense c.7111 p.R2371* 0.000 pfam_CarbesteraseB,pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 68 0 0.00 85 14 14.14 TINAG 0 genome.wustl.edu 37 6 54214543 54214543 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 6 54214543 54214543 T C SNP TINAG ENST00000259782 human ensembl 74_37 +1 known missense c.929 p.F310S 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 tier1 - - 30 0 0.00 23 8 25.81 TLL1 0 genome.wustl.edu 37 4 166976339 166976339 + Silent SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 4 166976339 166976339 A C SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.1636 p.R546 0.338 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 56 0 0.00 43 3 6.52 TMEM206 0 genome.wustl.edu 37 1 212551021 212551021 + Silent SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 212551021 212551021 G T SNP TMEM206 ENST00000535273 human ensembl 74_37 -1 known silent c.849 p.A283 1.000 NULL NULL - no_errors TMEM206 HGNC ENSG00000065600 tier1 - - 40 0 0.00 66 4 5.71 TMEM26 0 genome.wustl.edu 37 10 63170312 63170312 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 63170312 63170312 T G SNP TMEM26 ENST00000399298 human ensembl 74_37 -1 known missense c.875 p.K292T 1.000 pfam_Transmembrane_26 pfam_Transmembrane_26 - no_errors TMEM26 HGNC ENSG00000196932 tier1 - - 63 0 0.00 37 20 35.09 TNC 0 genome.wustl.edu 37 9 117848461 117848461 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 117848461 117848461 C T SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.1549 p.V517I 0.002 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 tier1 - - 29 0 0.00 29 7 19.44 TNRC18 0 genome.wustl.edu 37 7 5410841 5410841 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 5410841 5410841 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.3384 p.P1128 0.031 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 78 0 0.00 110 19 14.73 TNS1 0 genome.wustl.edu 37 2 218682490 218682490 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 218682490 218682490 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.4253 p.G1418D 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 64 0 0.00 57 4 6.56 TP53 0 genome.wustl.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 17 7578403 7578403 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.527 p.C176F 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 - - 43 0 0.00 18 12 40.00 TP53I11 0 genome.wustl.edu 37 11 44958848 44958848 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 44958848 44958848 G A SNP TP53I11 ENST00000525145 human ensembl 74_37 -1 known missense c.244 p.P82S 0.216 NULL NULL - no_errors TP53I11 HGNC ENSG00000175274 tier1 - - 30 0 0.00 34 5 12.82 TRHDE 0 genome.wustl.edu 37 12 72680620 72680620 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 12 72680620 72680620 A C SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.939 p.E313D 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 32 0 0.00 28 12 30.00 TRIM64C 0 genome.wustl.edu 37 11 49075357 49075357 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 49075357 49075357 A C SNP TRIM64C ENST00000530230 human ensembl 74_37 -1 known missense c.1253 p.F418C 0.094 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,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64C HGNC ENSG00000214891 tier1 - - 201 0 0.00 114 36 24.00 TRIM77 0 genome.wustl.edu 37 11 89444611 89444611 + Frame_Shift_Del DEL A A - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 89444611 89444611 A - DEL TRIM77 ENST00000398290 human ensembl 74_37 +1 known frame_shift_del c.445 p.K151fs 0.039 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM77 HGNC ENSG00000214414 tier1 84 0 0.00 56 8 12.50 TRIM9 0 genome.wustl.edu 37 14 51489642 51489642 + Missense_Mutation SNP C C A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 14 51489642 51489642 C A SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.952 p.A318S 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 tier1 - - 51 0 0.00 61 7 10.00 TRIP12 0 genome.wustl.edu 37 2 230664051 230664051 + Silent SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 230664051 230664051 T C SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known silent c.3030 p.P1010 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 tier1 - - 57 0 0.00 43 8 15.69 TRPA1 0 genome.wustl.edu 37 8 72964838 72964838 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 72964838 72964838 T C SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.1807 p.K603E 0.712 smart_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 42 0 0.00 60 18 23.08 TRPM3 0 genome.wustl.edu 37 9 73458045 73458046 + Splice_Site INS - - AA TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 9 73458045 73458046 - AA INS TRPM3 ENST00000423814 human ensembl 74_37 -1 known splice_site_ins c.683-3_683-2 e5-2 0.995:0.010 - - - no_errors TRPM3 HGNC ENSG00000083067 tier1 59 0 0.00 75 8 9.64 TSGA10 0 genome.wustl.edu 37 2 99636828 99636828 + Missense_Mutation SNP C C G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 99636828 99636828 C G SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.1732 p.E578Q 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 tier1 - - 40 0 0.00 26 9 25.71 TTC17 0 genome.wustl.edu 37 11 43513624 43513624 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 43513624 43513624 G A SNP TTC17 ENST00000039989 human ensembl 74_37 +1 known missense c.3205 p.D1069N 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 tier1 - - 74 0 0.00 67 8 10.67 TTN 0 genome.wustl.edu 37 2 179440283 179440283 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 179440283 179440283 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.62872 p.P20958S 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 42 0 0.00 44 4 8.33 TTN 0 genome.wustl.edu 37 2 179506042 179506042 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 179506042 179506042 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.32855 p.V10952G 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 46 0 0.00 43 15 25.86 TTN 0 genome.wustl.edu 37 2 179528404 179528404 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 179528404 179528404 T C SNP TTN ENST00000589042 human ensembl 74_37 -1 putative missense c.36482 p.K12161R 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 113 0 0.00 119 40 25.16 TTN 0 genome.wustl.edu 37 2 179614100 179614100 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 179614100 179614100 T C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.13027 p.T4343A 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 58 0 0.00 42 4 8.70 TTN 0 genome.wustl.edu 37 2 179666955 179666955 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 179666955 179666955 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.205 p.A69T 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 90 0 0.00 61 9 12.86 TUBGCP2 0 genome.wustl.edu 37 10 135103368 135103368 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 135103368 135103368 C T SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known silent c.1404 p.P468 0.014 pfam_TUBGCP,superfamily_Ocr pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 tier1 - - 107 0 0.00 64 10 13.51 TYR 0 genome.wustl.edu 37 11 88924562 88924562 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 88924562 88924562 T G SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.1012 p.F338V 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 tier1 - - 61 0 0.00 31 6 16.22 UBASH3B 0 genome.wustl.edu 37 11 122650316 122650316 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 11 122650316 122650316 T G SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known missense c.514 p.F172V 1.000 superfamily_RNA_ligase/cNuc_Pdiesterase pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 tier1 - - 40 0 0.00 30 7 18.92 UBE3A 0 genome.wustl.edu 37 15 25616050 25616050 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 25616050 25616050 G A SNP UBE3A ENST00000397954 human ensembl 74_37 -1 known missense c.1280 p.P427L 1.000 pirsf_Ubiquitin-protein_ligase_E6-AP pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 tier1 - - 57 0 0.00 37 12 24.49 UBE3C 0 genome.wustl.edu 37 7 157046813 157046813 + Missense_Mutation SNP A A G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 157046813 157046813 A G SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known missense c.2860 p.M954V 0.998 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 54 0 0.00 45 4 8.16 UBR3 0 genome.wustl.edu 37 2 170753079 170753079 + Missense_Mutation SNP T T A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 170753079 170753079 T A SNP UBR3 ENST00000272793 human ensembl 74_37 +1 known missense c.1299 p.S433R 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 tier1 - - 80 0 0.00 62 8 11.43 UGT1A5 0 genome.wustl.edu 37 2 234622057 234622057 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 234622057 234622057 C T SNP UGT1A5 ENST00000373414 human ensembl 74_37 +1 known silent c.420 p.H140 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A5 HGNC ENSG00000240224 tier1 - - 94 0 0.00 83 12 12.63 UNC13C 0 genome.wustl.edu 37 15 54838937 54838937 + Missense_Mutation SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 54838937 54838937 A C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.5714 p.K1905T 1.000 pfam_Munc13_subgr_dom-2 pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 211 0 0.00 109 58 34.73 UNC80 0 genome.wustl.edu 37 2 210808234 210808234 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 210808234 210808234 T C SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.6848 p.F2283S 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 8 0 0.00 11 12 52.17 UPK3B 0 genome.wustl.edu 37 7 76140306 76140307 + Frame_Shift_Del DEL TG TG - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 76140306 76140307 TG - DEL UPK3B ENST00000257632 human ensembl 74_37 +1 known frame_shift_del c.337_338 p.V114fs 1.000:1.000 NULL NULL - no_errors UPK3B HGNC ENSG00000243566 tier1 136 0 0.00 120 26 17.81 URB2 0 genome.wustl.edu 37 1 229772378 229772378 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 229772378 229772378 G T SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.2018 p.C673F 1.000 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 60 0 0.00 70 4 5.41 USH2A 0 genome.wustl.edu 37 1 215990382 215990382 + Frame_Shift_Del DEL G G - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 215990382 215990382 G - DEL USH2A ENST00000366943 human ensembl 74_37 -1 known frame_shift_del c.9527 p.P3176fs 0.001 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 45 0 0.00 27 2 6.90 USP24 0 genome.wustl.edu 37 1 55557744 55557744 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 55557744 55557744 G T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.6026 p.A2009D 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 tier1 - - 109 0 0.00 69 4 5.48 USP43 0 genome.wustl.edu 37 17 9578207 9578207 + Splice_Site SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 17 9578207 9578207 G T SNP USP43 ENST00000285199 human ensembl 74_37 +1 known splice_site c.741-1 e4-1 1.000 - - - no_errors USP43 HGNC ENSG00000154914 tier1 - - 77 0 0.00 64 4 5.88 VCAN 0 genome.wustl.edu 37 5 82837805 82837805 + Missense_Mutation SNP A A T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 5 82837805 82837805 A T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.8983 p.S2995C 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 43 0 0.00 22 11 33.33 VPS4A 0 genome.wustl.edu 37 16 69349993 69349993 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 16 69349993 69349993 C T SNP VPS4A ENST00000254950 human ensembl 74_37 +1 known missense c.104 p.A35V 1.000 pfam_MIT,smart_MIT pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4A HGNC ENSG00000132612 tier1 - - 55 0 0.00 45 12 21.05 VWA5B1 0 genome.wustl.edu 37 1 20640980 20640980 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 20640980 20640980 C T SNP VWA5B1 ENST00000289815 human ensembl 74_37 +1 known missense c.458 p.T153M 0.993 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC ENSG00000158816 81 0 0.00 57 3 5.00 WBSCR17 0 genome.wustl.edu 37 7 70800605 70800605 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 70800605 70800605 T C SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.308 p.L103P 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 142 0 0.00 128 37 22.42 WBSCR17 0 genome.wustl.edu 37 7 71175905 71175905 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 71175905 71175905 T G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.1660 p.F554V 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 tier1 - - 29 0 0.00 32 21 39.62 WDR11 0 genome.wustl.edu 37 10 122668423 122668424 + RNA INS - - C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 122668423 122668424 - C INS WDR11 ENST00000604509 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WDR11 HGNC ENSG00000120008 tier1 93 0 0.00 80 15 15.79 WDR11 0 genome.wustl.edu 37 10 122668424 122668424 + RNA SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 122668424 122668424 G A SNP WDR11 ENST00000604509 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WDR11 HGNC ENSG00000120008 tier1 - - 92 0 0.00 78 16 16.84 WDR11 0 genome.wustl.edu 37 10 122668428 122668428 + RNA SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 10 122668428 122668428 G A SNP WDR11 ENST00000604509 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WDR11 HGNC ENSG00000120008 tier1 - - 97 0 0.00 78 19 19.59 WDR72 0 genome.wustl.edu 37 15 54003588 54003588 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 54003588 54003588 T C SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.802 p.R268G 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 tier1 - - 55 0 0.00 31 5 13.89 XIRP1 0 genome.wustl.edu 37 3 39226622 39226622 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 39226622 39226622 G T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.4315 p.Q1439K 0.003 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 70 0 0.00 53 3 5.36 XIRP2 0 genome.wustl.edu 37 2 168115371 168115371 + Missense_Mutation SNP C C G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 2 168115371 168115371 C G SNP XIRP2 ENST00000420519 human ensembl 74_37 +1 known missense c.2414 p.S805W 0.061 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 24 0 0.00 34 5 12.82 XIST 0 genome.wustl.edu 37 X 73040638 73040638 + RNA SNP G G C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 X 73040638 73040638 G C SNP XIST ENST00000416330 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 54 0 0.00 62 4 6.06 XKR5 0 genome.wustl.edu 37 8 6669805 6669805 + RNA SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 8 6669805 6669805 G T SNP XKR5 ENST00000405979 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors XKR5 HGNC ENSG00000186530 tier1 - - 46 0 0.00 66 4 5.71 XRCC1 0 genome.wustl.edu 37 19 44056236 44056236 + Nonsense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 44056236 44056236 G A SNP XRCC1 ENST00000262887 human ensembl 74_37 -1 known nonsense c.1015 p.R339* 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 tier1 - - 144 0 0.00 97 26 21.14 ZFR2 0 genome.wustl.edu 37 19 3819165 3819165 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 3819165 3819165 C T SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known silent c.1809 p.T603 0.508 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 tier1 - - 27 0 0.00 7 3 30.00 ZIC4 0 genome.wustl.edu 37 3 147104282 147104282 + RNA SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 147104282 147104282 A C SNP ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 45 0 0.00 32 6 15.79 ZIC4 0 genome.wustl.edu 37 3 147124453 147124453 + RNA DEL T T - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 3 147124453 147124453 T - DEL ZIC4 ENST00000464144 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 37 0 0.00 39 5 11.36 ZNF106 0 genome.wustl.edu 37 15 42740536 42740536 + Frame_Shift_Del DEL T T - TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 15 42740536 42740536 T - DEL ZNF106 ENST00000263805 human ensembl 74_37 -1 known frame_shift_del c.2800 p.R934fs 0.467 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 tier1 23 0 0.00 26 2 7.14 ZNF347 0 genome.wustl.edu 37 19 53644920 53644920 + Silent SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 53644920 53644920 G A SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known silent c.1164 p.S388 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 78 0 0.00 75 4 5.06 ZNF407 0 genome.wustl.edu 37 18 72775418 72775418 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 72775418 72775418 C T SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.5741 p.T1914M 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 - - 86 0 0.00 45 6 11.76 ZNF407 0 genome.wustl.edu 37 18 72776180 72776180 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 72776180 72776180 C T SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.6503 p.T2168M 0.031 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 tier1 - - 60 0 0.00 37 7 15.91 ZNF429 0 genome.wustl.edu 37 19 21719663 21719663 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 21719663 21719663 T G SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel missense c.808 p.S270A 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF429 HGNC ENSG00000197013 tier1 - - 43 0 0.00 41 23 35.94 ZNF441 0 genome.wustl.edu 37 19 11891521 11891521 + Missense_Mutation SNP C C G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 11891521 11891521 C G SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.882 p.S294R 0.005 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 ZNF441 HGNC ENSG00000197044 tier1 - - 87 0 0.00 85 19 18.27 ZNF492 0 genome.wustl.edu 37 19 22848044 22848044 + Silent SNP A A C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 22848044 22848044 A C SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known silent c.1573 p.R525 0.429 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 tier1 - - 56 0 0.00 37 7 15.91 ZNF496 0 genome.wustl.edu 37 1 247486494 247486494 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 1 247486494 247486494 G A SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known missense c.613 p.R205W 0.043 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 tier1 rs148779406 - 36 0 0.00 25 8 23.53 ZNF516 0 genome.wustl.edu 37 18 74154913 74154913 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 18 74154913 74154913 C T SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.98 p.C33Y 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 55 0 0.00 58 4 6.35 ZNF66 0 genome.wustl.edu 37 19 20989285 20989285 + Silent SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 20989285 20989285 T G SNP ZNF66 ENST00000344519 human ensembl 74_37 +1 known silent c.879 p.V293 0.006 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 ZNF66 HGNC ENSG00000160229 tier1 - - 40 0 0.00 38 16 29.63 ZNF667 0 genome.wustl.edu 37 19 56952705 56952705 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 56952705 56952705 T G SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.2043 p.K681N 0.885 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 ZNF667 HGNC ENSG00000198046 tier1 - - 63 0 0.00 51 18 26.09 ZNF679 0 genome.wustl.edu 37 7 63727240 63727240 + Missense_Mutation SNP G G T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 63727240 63727240 G T SNP ZNF679 ENST00000255746 human ensembl 74_37 +1 known missense c.1229 p.C410F 0.877 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF679 HGNC ENSG00000197123 tier1 - - 67 0 0.00 63 16 20.25 ZNF726 0 genome.wustl.edu 37 19 24116573 24116573 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 24116573 24116573 T G SNP ZNF726 ENST00000322487 human ensembl 74_37 +1 known missense c.1655 p.L552R 0.040 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF726 HGNC ENSG00000213967 tier1 - - 27 0 0.00 35 19 35.19 ZNF831 0 genome.wustl.edu 37 20 57767078 57767078 + Missense_Mutation SNP G G A TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 20 57767078 57767078 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.1004 p.R335Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 35 0 0.00 22 5 18.52 ZNF98 0 genome.wustl.edu 37 19 22585671 22585671 + Missense_Mutation SNP T T G TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 22585671 22585671 T G SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.173 p.K58T 0.839 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 tier1 - - 81 0 0.00 93 41 30.60 ZPBP 0 genome.wustl.edu 37 7 50121488 50121488 + Silent SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 7 50121488 50121488 C T SNP ZPBP ENST00000046087 human ensembl 74_37 -1 known silent c.216 p.A72 0.765 pfscan_Ig-like_dom pfam_Sp38-bd,pfscan_Ig-like_dom - no_errors ZPBP HGNC ENSG00000042813 tier1 rs144577669 - 45 0 0.00 51 10 16.39 ZSCAN5B 0 genome.wustl.edu 37 19 56701744 56701744 + Missense_Mutation SNP C C T TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 122ce68f-739f-4847-bb70-254c1c862092 db7e7534-137c-4892-abae-b339e839e605 19 56701744 56701744 C T SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known missense c.940 p.E314K 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 tier1 - - 102 0 0.00 60 27 30.68