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 AATK 0 genome.wustl.edu 37 17 79108176 79108176 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 79108176 79108176 C T SNP AATK ENST00000326724 human ensembl 74_37 -1 known missense c.181 p.G61R 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AATK HGNC ENSG00000181409 tier1 - - 103 0 0.00 77 6 7.23 ABCC9 0 genome.wustl.edu 37 12 21960336 21960336 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 12 21960336 21960336 G A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.4393 p.R1465C 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 tier1 - - 61 0 0.00 45 4 8.16 ACOT11 0 genome.wustl.edu 37 1 55013965 55013965 + RNA SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 55013965 55013965 C T SNP ACOT11 ENST00000498228 human ensembl 74_37 +1 known rna NULL NULL 0.216 - - - no_errors ACOT11 HGNC ENSG00000162390 tier1 - - 66 0 0.00 39 4 9.30 ADAP2 0 genome.wustl.edu 37 17 29253929 29253929 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 29253929 29253929 G T SNP ADAP2 ENST00000330889 human ensembl 74_37 +1 known missense c.310 p.D104Y 0.998 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ADAP2 HGNC ENSG00000184060 tier1 - - 106 0 0.00 98 22 18.33 ADCK3 0 genome.wustl.edu 37 1 227173017 227173017 + Missense_Mutation SNP G G C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 227173017 227173017 G C SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known missense c.1635 p.K545N 1.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 tier1 - - 36 0 0.00 34 5 12.82 AKAP6 0 genome.wustl.edu 37 14 33014439 33014439 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 14 33014439 33014439 C T SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.580 p.R194W 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 37 0 0.00 28 7 20.00 AMIGO3 0 genome.wustl.edu 37 3 49756817 49756817 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 3 49756817 49756817 G T SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known missense c.82 p.P28T 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 41 0 0.00 32 4 11.11 ANKRD36C 0 genome.wustl.edu 37 2 96557486 96557486 + Splice_Site SNP C C G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 96557486 96557486 C G SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known splice_site c.2785-1 e46-1 0.047 - - - no_errors ANKRD36C HGNC ENSG00000174501 tier1 - - 138 0 0.00 111 27 19.29 ARHGAP15 0 genome.wustl.edu 37 2 144194557 144194557 + Missense_Mutation SNP A A T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 144194557 144194557 A T SNP ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known missense c.649 p.S217C 0.996 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 ARHGAP15 HGNC ENSG00000075884 tier1 - - 57 0 0.00 25 10 28.57 ARHGAP23 0 genome.wustl.edu 37 17 36633872 36633872 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 36633872 36633872 C T SNP ARHGAP23 ENST00000431231 human ensembl 74_37 +1 known missense c.2171 p.A724V 0.999 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ENSG00000225485 33 0 0.00 24 3 11.11 ARHGAP5 0 genome.wustl.edu 37 14 32563112 32563112 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 14 32563112 32563112 G A SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known silent c.3237 p.L1079 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 - - 31 0 0.00 17 4 19.05 ARID2 0 genome.wustl.edu 37 12 46298934 46298934 + RNA SNP C C G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 12 46298934 46298934 C G SNP ARID2 ENST00000479608 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ARID2 HGNC ENSG00000189079 tier1 - - 18 0 0.00 12 5 29.41 ART1 0 genome.wustl.edu 37 11 3681398 3681398 + Missense_Mutation SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 3681398 3681398 A G SNP ART1 ENST00000250693 human ensembl 74_37 +1 known missense c.649 p.T217A 1.000 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 tier1 rs199558962 - 46 0 0.00 28 11 28.21 ASPM 0 genome.wustl.edu 37 1 197060162 197060162 + Nonsense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 197060162 197060162 G A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known nonsense c.9454 p.R3152* 1.000 superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 40 0 0.00 35 2 5.41 ASTE1 0 genome.wustl.edu 37 3 130743962 130743962 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 3 130743962 130743962 G T SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known missense c.189 p.F63L 1.000 pfam_XPG_DNA_repair_N pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 24 0 0.00 33 2 5.71 ATP6V0D2 0 genome.wustl.edu 37 8 87111238 87111238 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 87111238 87111238 G A SNP ATP6V0D2 ENST00000285393 human ensembl 74_37 +1 known missense c.31 p.V11M 0.981 pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D2 HGNC ENSG00000147614 tier1 - - 77 0 0.00 40 10 20.00 ATRN 0 genome.wustl.edu 37 20 3557593 3557593 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 20 3557593 3557593 G A SNP ATRN ENST00000262919 human ensembl 74_37 +1 known missense c.2302 p.D768N 1.000 smart_Plexin-like_fold pfam_Kelch_1,pfam_Plexin_repeat,pfam_CUB_dom,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRN HGNC ENSG00000088812 tier1 - - 71 0 0.00 56 11 16.42 BOD1L1 0 genome.wustl.edu 37 4 13602210 13602210 + Missense_Mutation SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 4 13602210 13602210 A G SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.6314 p.M2105T 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 33 0 0.00 14 16 53.33 BRINP3 0 genome.wustl.edu 37 1 190067650 190067650 + Missense_Mutation SNP T T G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 190067650 190067650 T G SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1799 p.K600T 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 46 0 0.00 33 18 35.29 BTBD11 0 genome.wustl.edu 37 12 108008884 108008884 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 12 108008884 108008884 G T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.1946 p.R649L 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 tier1 - - 80 0 0.00 60 4 6.25 C15orf39 0 genome.wustl.edu 37 15 75501009 75501009 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 15 75501009 75501009 C T SNP C15orf39 ENST00000360639 human ensembl 74_37 +1 known missense c.2620 p.R874W 1.000 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 tier1 - - 50 0 0.00 33 7 17.50 CA5BP1 0 genome.wustl.edu 37 X 15715507 15715507 + RNA SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 15715507 15715507 C T SNP CA5BP1 ENST00000380331 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CA5BP1 HGNC ENSG00000186312 tier1 - - 43 0 0.00 25 18 41.86 CACNA1I 0 genome.wustl.edu 37 22 40080328 40080328 + Missense_Mutation SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 22 40080328 40080328 C A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.5870 p.P1957Q 0.998 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 tier1 - - 28 0 0.00 13 5 27.78 CCDC137 0 genome.wustl.edu 37 17 79639171 79639171 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 79639171 79639171 G A SNP CCDC137 ENST00000329214 human ensembl 74_37 +1 known missense c.646 p.V216I 0.000 NULL NULL - no_errors CCDC137 HGNC ENSG00000185298 tier1 rs201656915 - 57 0 0.00 30 6 16.67 CCDC66 0 genome.wustl.edu 37 3 56600710 56600710 + Silent SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 3 56600710 56600710 A G SNP CCDC66 ENST00000394672 human ensembl 74_37 +1 known silent c.633 p.S211 0.000 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 23 0 0.00 22 2 8.33 CDH4 0 genome.wustl.edu 37 20 60511879 60511879 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 20 60511879 60511879 G A SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.2629 p.A877T 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 31 0 0.00 22 12 35.29 CDH7 0 genome.wustl.edu 37 18 63481784 63481784 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 18 63481784 63481784 G T SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.569 p.R190I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 72 0 0.00 38 2 5.00 CDK19 0 genome.wustl.edu 37 6 110991738 110991738 + Nonsense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 110991738 110991738 G A SNP CDK19 ENST00000368911 human ensembl 74_37 -1 known nonsense c.211 p.R71* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK19 HGNC ENSG00000155111 tier1 - - 56 0 0.00 75 4 5.06 CDK5RAP2 0 genome.wustl.edu 37 9 123166353 123166353 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 9 123166353 123166353 C T SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.5002 p.D1668N 0.988 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 tier1 - - 76 0 0.00 59 4 6.35 CDYL2 0 genome.wustl.edu 37 16 80718882 80718882 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 16 80718882 80718882 C T SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known missense c.169 p.G57R 1.000 superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 tier1 - - 45 0 0.00 60 8 11.76 CELSR3 0 genome.wustl.edu 37 3 48698502 48698502 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 3 48698502 48698502 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.1566 p.P522 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 tier1 - - 20 0 0.00 10 6 37.50 CENPJ 0 genome.wustl.edu 37 13 25480207 25480207 + Nonsense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 13 25480207 25480207 G A SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known nonsense c.1969 p.Q657* 0.000 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 tier1 - - 70 0 0.00 98 18 15.38 CHD2 0 genome.wustl.edu 37 15 93522503 93522503 + Nonsense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 15 93522503 93522503 G T SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative nonsense c.2866 p.G956* 0.998 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 - - 49 0 0.00 31 4 11.43 CHEK2 0 genome.wustl.edu 37 22 29083913 29083913 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 22 29083913 29083913 C T SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known missense c.1733 p.R578H 0.189 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 49 0 0.00 33 2 5.71 CHM 0 genome.wustl.edu 37 X 85117544 85117544 + RNA SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 85117544 85117544 C A SNP CHM ENST00000467744 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CHM HGNC ENSG00000188419 tier1 - - 38 0 0.00 10 26 72.22 CHRNA4 0 genome.wustl.edu 37 20 61978016 61978016 + RNA SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 20 61978016 61978016 C A SNP CHRNA4 ENST00000463705 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CHRNA4 HGNC ENSG00000101204 tier1 - - 21 0 0.00 27 5 15.62 CHRNA7 0 genome.wustl.edu 37 15 32460329 32460329 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 15 32460329 32460329 C T SNP CHRNA7 ENST00000454250 human ensembl 74_37 +1 known silent c.1266 p.D422 0.079 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 tier1 - - 72 0 0.00 64 10 13.51 CKS1B 0 genome.wustl.edu 37 1 154950327 154950327 + RNA SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 154950327 154950327 C T SNP CKS1B ENST00000471245 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CKS1B HGNC ENSG00000173207 tier1 - - 34 0 0.00 26 7 20.59 CNEP1R1 0 genome.wustl.edu 37 16 50069359 50069359 + Missense_Mutation SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 16 50069359 50069359 A C SNP CNEP1R1 ENST00000458059 human ensembl 74_37 +1 known missense c.419 p.H140P 1.000 pfam_Transmembrane_protein_188 pfam_Transmembrane_protein_188 - no_errors CNEP1R1 HGNC ENSG00000205423 tier1 - - 42 0 0.00 29 12 29.27 CNTNAP2 0 genome.wustl.edu 37 7 147092847 147092847 + Missense_Mutation SNP A A T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 147092847 147092847 A T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1645 p.I549F 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_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,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 26 0 0.00 28 4 12.50 COG5 0 genome.wustl.edu 37 7 106898783 106898783 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 106898783 106898783 C T SNP COG5 ENST00000297135 human ensembl 74_37 -1 known missense c.1714 p.E572K 1.000 NULL pfam_Cog5 - no_errors COG5 HGNC ENSG00000164597 tier1 - - 36 0 0.00 39 10 20.41 COL6A3 0 genome.wustl.edu 37 2 238280759 238280759 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 238280759 238280759 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.3901 p.R1301W 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 rs150430813 - 35 0 0.00 34 10 22.73 COL6A3 0 genome.wustl.edu 37 2 238283179 238283179 + Silent SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 238283179 238283179 G T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.3555 p.A1185 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 38 0 0.00 20 12 37.50 CR2 0 genome.wustl.edu 37 1 207639910 207639910 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 207639910 207639910 G A SNP CR2 ENST00000367057 human ensembl 74_37 +1 known missense c.98 p.R33Q 0.000 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 CR2 HGNC ENSG00000117322 tier1 - - 88 0 0.00 59 10 14.49 CSMD3 0 genome.wustl.edu 37 8 113516028 113516028 + Nonsense_Mutation SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 113516028 113516028 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.5074 p.E1692* 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 58 0 0.00 38 19 33.33 CTNNBIP1 0 genome.wustl.edu 37 1 9910786 9910786 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 9910786 9910786 C T SNP CTNNBIP1 ENST00000377256 human ensembl 74_37 -1 known missense c.236 p.R79Q 1.000 pfam_ICAT pfam_ICAT,superfamily_ICAT - no_errors CTNNBIP1 HGNC ENSG00000178585 tier1 - - 49 0 0.00 26 8 23.53 CYLC1 0 genome.wustl.edu 37 X 83129383 83129383 + Missense_Mutation SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 83129383 83129383 A C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.1667 p.K556T 0.005 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 37 0 0.00 37 7 15.91 CYP11B1 0 genome.wustl.edu 37 8 143958194 143958194 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 143958194 143958194 C T SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.703 p.V235I 0.001 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 tier1 - - 43 0 0.00 19 8 29.63 CYP3A5 0 genome.wustl.edu 37 7 99273804 99273804 + Frame_Shift_Del DEL A A - TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 99273804 99273804 A - DEL CYP3A5 ENST00000222982 human ensembl 74_37 -1 known frame_shift_del c.99 p.F33fs 0.750 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A5 HGNC ENSG00000106258 tier1 48 0 0.00 54 8 12.90 DCDC1 0 genome.wustl.edu 37 11 30953321 30953321 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 30953321 30953321 G A SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known missense c.131 p.T44M 0.009 pfscan_Doublecortin_dom pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 rs139705632 - 59 0 0.00 39 13 25.00 DDX39B 0 genome.wustl.edu 37 6 31498434 31498434 + RNA SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 31498434 31498434 G A SNP DDX39B ENST00000462421 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors DDX39B HGNC ENSG00000198563 tier1 - - 21 0 0.00 15 4 21.05 DENND5B 0 genome.wustl.edu 37 12 31595786 31595786 + Silent SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 12 31595786 31595786 A G SNP DENND5B ENST00000306833 human ensembl 74_37 -1 known silent c.2040 p.I680 0.996 NULL pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 tier1 - - 88 0 0.00 71 4 5.33 DGCR9 0 genome.wustl.edu 37 22 19005790 19005790 + RNA SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 22 19005790 19005790 C T SNP DGCR9 ENST00000609630 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors DGCR9 HGNC ENSG00000273032 tier1 - - 74 0 0.00 62 14 18.42 DIS3L 0 genome.wustl.edu 37 15 66604111 66604111 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 15 66604111 66604111 G T SNP DIS3L ENST00000319212 human ensembl 74_37 +1 known missense c.608 p.C203F 0.993 NULL NULL - no_errors DIS3L HGNC ENSG00000166938 24 0 0.00 16 2 11.11 DNAH17 0 genome.wustl.edu 37 17 76481737 76481737 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 76481737 76481737 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.7336 p.G2446S 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 tier1 - - 50 0 0.00 27 18 40.00 DNAH3 0 genome.wustl.edu 37 16 20981193 20981193 + Silent SNP G G C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 16 20981193 20981193 G C SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.8379 p.G2793 0.606 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 93 0 0.00 50 12 19.35 DNAH3 0 genome.wustl.edu 37 16 21038390 21038390 + Missense_Mutation SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 16 21038390 21038390 C A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.5499 p.E1833D 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 26 0 0.00 14 3 17.65 DNAH9 0 genome.wustl.edu 37 17 11783507 11783507 + Nonsense_Mutation SNP A A T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 11783507 11783507 A T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known nonsense c.10591 p.K3531* 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 tier1 rs200261738 - 29 0 0.00 12 3 20.00 DPY19L2P4 0 genome.wustl.edu 37 7 89749036 89749036 + RNA SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 89749036 89749036 G A SNP DPY19L2P4 ENST00000497063 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DPY19L2P4 HGNC ENSG00000235436 tier1 - - 54 0 0.00 63 5 7.35 EFCAB7 0 genome.wustl.edu 37 1 64036560 64036560 + RNA SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 64036560 64036560 G T SNP EFCAB7 ENST00000461039 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EFCAB7 HGNC ENSG00000203965 tier1 - - 20 0 0.00 12 4 25.00 EMCN 0 genome.wustl.edu 37 4 101439059 101439059 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 4 101439059 101439059 G T SNP EMCN ENST00000296420 human ensembl 74_37 -1 known missense c.13 p.Q5K 0.036 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC ENSG00000164035 tier1 - - 66 0 0.00 36 12 25.00 EMCN 0 genome.wustl.edu 37 4 101439061 101439061 + Missense_Mutation SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 4 101439061 101439061 A C SNP EMCN ENST00000296420 human ensembl 74_37 -1 known missense c.11 p.L4R 0.168 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC ENSG00000164035 tier1 - - 66 0 0.00 37 12 24.49 ENKUR 0 genome.wustl.edu 37 10 25273785 25273785 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 10 25273785 25273785 G A SNP ENKUR ENST00000331161 human ensembl 74_37 -1 known missense c.644 p.S215L 1.000 NULL NULL - no_errors ENKUR HGNC ENSG00000151023 tier1 - - 33 0 0.00 9 19 67.86 ENSG00000216197 0 genome.wustl.edu 37 21 43720386 43720387 + RNA DEL GT GT - TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 21 43720386 43720387 GT - DEL ENSG00000216197 ENST00000401378 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.000 - - - no_errors AP001623.1 Clone_based_ensembl_gene ENSG00000216197 tier1 50 0 0.00 31 4 11.43 ENSG00000225891 0 genome.wustl.edu 37 1 26793764 26793764 + RNA DEL A A - TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 26793764 26793764 A - DEL ENSG00000225891 ENST00000423060 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP3-476K8.3 Clone_based_vega_gene ENSG00000225891 tier1 52 0 0.00 38 2 5.00 ENSG00000252404 0 genome.wustl.edu 37 1 9142937 9142938 + RNA INS - - A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 9142937 9142938 - A INS ENSG00000252404 ENST00000516595 human ensembl 74_37 +1 novel rna NULL NULL 0.022:0.023 - - - no_errors SCARNA16 RFAM ENSG00000252404 tier1 11 0 0.00 4 2 33.33 ENSG00000258727 0 genome.wustl.edu 37 14 24036581 24036581 + RNA SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 14 24036581 24036581 T C SNP ENSG00000258727 ENST00000555968 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-66N24.3 Clone_based_vega_gene ENSG00000258727 tier1 - - 14 0 0.00 10 4 28.57 ENSG00000264798 0 genome.wustl.edu 37 2 201251916 201251916 + RNA SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 201251916 201251916 G T SNP ENSG00000264798 ENST00000581684 human ensembl 74_37 +1 novel rna NULL NULL 0.307 - - - no_errors AC105381.1 Clone_based_ensembl_gene ENSG00000264798 tier1 - - 75 0 0.00 84 5 5.62 ENSG00000268412 0 genome.wustl.edu 37 2 26251188 26251188 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 26251188 26251188 C T SNP ENSG00000268412 ENST00000599234 human ensembl 74_37 -1 novel silent c.294 p.L98 1.000 pfam_UPF0434/Trm112 pfam_UPF0434/Trm112 - no_errors AC013449.1 Clone_based_ensembl_gene ENSG00000268412 tier1 - - 43 0 0.00 31 4 11.43 ENSG00000271754 0 genome.wustl.edu 37 6 43487213 43487213 + RNA SNP T T A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 43487213 43487213 T A SNP ENSG00000271754 ENST00000607571 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP3-337H4.9 Clone_based_vega_gene ENSG00000271754 tier1 - - 92 0 0.00 39 17 30.36 ENSG00000271754 0 genome.wustl.edu 37 6 43487215 43487215 + RNA SNP T T A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 43487215 43487215 T A SNP ENSG00000271754 ENST00000607571 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP3-337H4.9 Clone_based_vega_gene ENSG00000271754 tier1 - - 92 0 0.00 41 15 26.79 EPC2 0 genome.wustl.edu 37 2 149528623 149528623 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 149528623 149528623 G T SNP EPC2 ENST00000258484 human ensembl 74_37 +1 known missense c.1387 p.D463Y 1.000 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC2 HGNC ENSG00000135999 45 0 0.00 32 3 8.57 EPHA7 0 genome.wustl.edu 37 6 93982021 93982021 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 93982021 93982021 C T SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.1444 p.E482K 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 43 0 0.00 38 6 13.64 EVC2 0 genome.wustl.edu 37 4 5617215 5617215 + Silent SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 4 5617215 5617215 C A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known silent c.2763 p.L921 0.965 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 tier1 - - 66 0 0.00 45 6 11.76 EYS 0 genome.wustl.edu 37 6 65300261 65300261 + Silent SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 65300261 65300261 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.5499 p.T1833 0.000 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 25 0 0.00 25 8 24.24 FAHD2A 0 genome.wustl.edu 37 2 96078479 96078479 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 96078479 96078479 C T SNP FAHD2A ENST00000233379 human ensembl 74_37 +1 known silent c.849 p.V283 0.978 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 tier1 - - 53 0 0.00 32 17 34.69 FAM13C 0 genome.wustl.edu 37 10 61014112 61014112 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 10 61014112 61014112 G T SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.1328 p.T443K 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 93 0 0.00 57 3 5.00 FAM179A 0 genome.wustl.edu 37 2 29240131 29240131 + Missense_Mutation SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 29240131 29240131 T C SNP FAM179A ENST00000379558 human ensembl 74_37 +1 known missense c.1156 p.S386P 0.001 NULL pfam_CLASP_N_dom,superfamily_ARM-type_fold - no_errors FAM179A HGNC ENSG00000189350 tier1 rs201148338 - 43 0 0.00 22 8 26.67 FAM189A2 0 genome.wustl.edu 37 9 72006645 72006645 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 9 72006645 72006645 C T SNP FAM189A2 ENST00000257515 human ensembl 74_37 +1 known silent c.1278 p.A426 0.000 NULL pfam_CD20-like - no_errors FAM189A2 HGNC ENSG00000135063 tier1 - - 57 0 0.00 27 33 55.00 FAM20C 0 genome.wustl.edu 37 7 299871 299871 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 299871 299871 C T SNP FAM20C ENST00000313766 human ensembl 74_37 +1 known silent c.1680 p.C560 0.999 pfam_DUF1193 pfam_DUF1193 - no_errors FAM20C HGNC ENSG00000177706 tier1 - - 69 0 0.00 53 31 36.90 FASN 0 genome.wustl.edu 37 17 80046282 80046282 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 80046282 80046282 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.2577 p.A859 0.973 smart_PKS_dehydratase pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 - - 70 0 0.00 15 20 57.14 FBLIM1 0 genome.wustl.edu 37 1 16101256 16101256 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 16101256 16101256 C T SNP FBLIM1 ENST00000441801 human ensembl 74_37 +1 known silent c.855 p.S285 0.876 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FBLIM1 HGNC ENSG00000162458 tier1 - - 83 0 0.00 45 4 8.16 FGF14 0 genome.wustl.edu 37 13 102375254 102375254 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 13 102375254 102375254 G A SNP FGF14 ENST00000376131 human ensembl 74_37 -1 known missense c.686 p.T229M 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 tier1 - - 141 0 0.00 114 16 12.31 FOLH1 0 genome.wustl.edu 37 11 49214356 49214356 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 49214356 49214356 C T SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.502 p.G168R 1.000 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 - - 96 0 0.00 46 10 17.86 FST 0 genome.wustl.edu 37 5 52779522 52779522 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 5 52779522 52779522 C T SNP FST ENST00000256759 human ensembl 74_37 +1 known silent c.466 p.L156 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom - no_errors FST HGNC ENSG00000134363 tier1 - - 36 0 0.00 16 4 20.00 GAD2 0 genome.wustl.edu 37 10 26581439 26581439 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 10 26581439 26581439 G A SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.1432 p.A478T 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 tier1 - - 59 0 0.00 38 4 9.52 GFRA2 0 genome.wustl.edu 37 8 21608305 21608305 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 21608305 21608305 G A SNP GFRA2 ENST00000517328 human ensembl 74_37 -1 known missense c.589 p.R197C 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_a2 - no_errors GFRA2 HGNC ENSG00000168546 tier1 - - 27 0 0.00 30 5 14.29 GIGYF1 0 genome.wustl.edu 37 7 100282217 100282217 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 100282217 100282217 C T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.1485 p.M495I 1.000 pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 tier1 - - 28 0 0.00 20 4 16.67 GJB6 0 genome.wustl.edu 37 13 20796939 20796939 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 13 20796939 20796939 C T SNP GJB6 ENST00000241124 human ensembl 74_37 -1 known silent c.681 p.T227 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC ENSG00000121742 35 0 0.00 34 3 8.11 GK 0 genome.wustl.edu 37 X 30739005 30739005 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 30739005 30739005 C T SNP GK ENST00000378943 human ensembl 74_37 +1 known missense c.1376 p.A459V 1.000 pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK HGNC ENSG00000198814 tier1 - - 49 0 0.00 68 4 5.56 GNG2 0 genome.wustl.edu 37 14 52417396 52417396 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 14 52417396 52417396 G A SNP GNG2 ENST00000557376 human ensembl 74_37 +1 putative silent c.117 p.P39 0.897 superfamily_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG2 HGNC ENSG00000186469 tier1 - - 27 0 0.00 14 5 26.32 GPC3 0 genome.wustl.edu 37 X 132795821 132795821 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 132795821 132795821 C T SNP GPC3 ENST00000394299 human ensembl 74_37 -1 known silent c.1419 p.L473 1.000 pfam_Glypican pfam_Glypican - no_errors GPC3 HGNC ENSG00000147257 tier1 - - 88 0 0.00 79 18 18.56 GPLD1 0 genome.wustl.edu 37 6 24450083 24450083 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 24450083 24450083 G A SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known silent c.1380 p.N460 0.733 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 tier1 - - 56 0 0.00 19 6 24.00 GPR101 0 genome.wustl.edu 37 X 136112589 136112589 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 136112589 136112589 G A SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known silent c.1245 p.Y415 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 tier1 - - 60 0 0.00 36 31 46.27 GPR149 0 genome.wustl.edu 37 3 154146547 154146547 + Silent SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 3 154146547 154146547 T C SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known silent c.858 p.E286 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 tier1 - - 25 0 0.00 13 6 31.58 GPR39 0 genome.wustl.edu 37 2 133175428 133175428 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 133175428 133175428 C T SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known silent c.813 p.S271 0.945 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 tier1 - - 29 0 0.00 18 5 20.83 GPR87 0 genome.wustl.edu 37 3 151012162 151012163 + Frame_Shift_Ins INS - - T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 3 151012162 151012163 - T INS GPR87 ENST00000260843 human ensembl 74_37 -1 known frame_shift_ins c.872_871 p.I291fs 0.996:0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 tier1 36 0 0.00 31 8 20.51 GRAP2 0 genome.wustl.edu 37 22 40362100 40362100 + Missense_Mutation SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 22 40362100 40362100 A G SNP GRAP2 ENST00000344138 human ensembl 74_37 +1 known missense c.397 p.R133G 1.000 smart_SH2,pfscan_SH2,prints_SH2 pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 tier1 - - 28 0 0.00 25 11 30.56 GTF3C5 0 genome.wustl.edu 37 9 135930461 135930461 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 9 135930461 135930461 C T SNP GTF3C5 ENST00000372095 human ensembl 74_37 +1 known missense c.923 p.P308L 0.000 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 tier1 - - 43 0 0.00 50 4 7.41 HEATR5B 0 genome.wustl.edu 37 2 37276984 37276984 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 37276984 37276984 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known silent c.2508 p.G836 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 tier1 - - 25 0 0.00 15 5 25.00 HMHA1 0 genome.wustl.edu 37 19 1068535 1068535 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 1068535 1068535 C T SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known silent c.213 p.H71 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 17 0 0.00 21 8 27.59 HRCT1 0 genome.wustl.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 9 35906348 35906350 CTG - DEL HRCT1 ENST00000354323 human ensembl 74_37 +1 known in_frame_del c.64_66 p.L25in_frame_del 0.168:0.493:0.516 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 tier1 27 0 0.00 31 3 8.82 HSPA14 0 genome.wustl.edu 37 10 14912595 14912595 + Splice_Site SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 10 14912595 14912595 G A SNP HSPA14 ENST00000378372 human ensembl 74_37 +1 known splice_site c.1381-1 e13-1 1.000 - - - no_errors HSPA14 HGNC ENSG00000187522 tier1 - - 39 0 0.00 21 9 30.00 HUWE1 0 genome.wustl.edu 37 X 53635828 53635828 + Missense_Mutation SNP A A T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 53635828 53635828 A T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.2304 p.D768E 1.000 pfam_E3_Ub_ligase_DUF913 pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 26 0 0.00 24 14 36.84 IARS 0 genome.wustl.edu 37 9 95049955 95049955 + RNA SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 9 95049955 95049955 T C SNP IARS ENST00000490438 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IARS HGNC ENSG00000196305 tier1 - - 29 0 0.00 20 3 13.04 IDH3G 0 genome.wustl.edu 37 X 153052255 153052255 + Splice_Site SNP C C G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 153052255 153052255 C G SNP IDH3G ENST00000217901 human ensembl 74_37 -1 known splice_site c.924+1 e10+1 1.000 - - - no_errors IDH3G HGNC ENSG00000067829 tier1 - - 80 0 0.00 81 8 8.99 IFI16 0 genome.wustl.edu 37 1 158986435 158986435 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 158986435 158986435 G A SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.494 p.R165H 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 tier1 rs138795047 - 58 0 0.00 67 20 22.99 INSR 0 genome.wustl.edu 37 19 7152815 7152815 + Missense_Mutation SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 7152815 7152815 T C SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.2153 p.Q718R 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 tier1 - - 45 0 0.00 39 13 25.00 INTS8 0 genome.wustl.edu 37 8 95837220 95837220 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 95837220 95837220 G T SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.230 p.R77I 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 29 0 0.00 29 2 6.45 ITGB6 0 genome.wustl.edu 37 2 161055715 161055715 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 161055715 161055715 G A SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known missense c.116 p.P39L 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu 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 - - 42 0 0.00 28 13 31.71 ITIH1 0 genome.wustl.edu 37 3 52816275 52816275 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 3 52816275 52816275 G A SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known missense c.922 p.V308M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 tier1 - - 27 0 0.00 21 6 22.22 ITK 0 genome.wustl.edu 37 5 156607998 156607998 + Missense_Mutation SNP T T G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 5 156607998 156607998 T G SNP ITK ENST00000422843 human ensembl 74_37 +1 known missense c.10 p.F4V 0.987 pfscan_Pleckstrin_homology pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 tier1 - - 38 0 0.00 27 6 18.18 JAG1 0 genome.wustl.edu 37 20 10625886 10625886 + Missense_Mutation SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 20 10625886 10625886 T C SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.2132 p.E711G 1.000 pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 tier1 - - 46 0 0.00 22 37 62.71 KIAA0895 0 genome.wustl.edu 37 7 36375802 36375802 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 36375802 36375802 G A SNP KIAA0895 ENST00000436884 human ensembl 74_37 -1 putative silent c.519 p.H173 0.829 pfam_DUF1704 pfam_DUF1704 - no_errors KIAA0895 HGNC ENSG00000164542 tier1 rs61735025 - 42 0 0.00 31 13 29.55 KIF4A 0 genome.wustl.edu 37 X 69615565 69615565 + Missense_Mutation SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 69615565 69615565 A C SNP KIF4A ENST00000374403 human ensembl 74_37 +1 known missense c.2277 p.E759D 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 tier1 - - 49 0 0.00 47 39 45.35 KMT2C 0 genome.wustl.edu 37 7 151927069 151927069 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 151927069 151927069 C T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.2915 p.G972E 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 343 0 0.00 274 18 6.16 KMT2D 0 genome.wustl.edu 37 12 49420963 49420963 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 12 49420963 49420963 G T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.14786 p.P4929H 0.816 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 40 0 0.00 36 2 5.26 KRTAP19-5 0 genome.wustl.edu 37 21 31874223 31874223 + Nonsense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 21 31874223 31874223 G T SNP KRTAP19-5 ENST00000334151 human ensembl 74_37 -1 known nonsense c.186 p.C62* 0.000 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-5 HGNC ENSG00000186977 tier1 - - 83 0 0.00 75 20 21.05 LAMB4 0 genome.wustl.edu 37 7 107746347 107746347 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 107746347 107746347 C T SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.785 p.R262Q 0.463 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N 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 - - 37 0 0.00 37 10 21.28 LMO7 0 genome.wustl.edu 37 13 76423325 76423325 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 13 76423325 76423325 G A SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.4417 p.E1473K 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 tier1 - - 27 0 0.00 33 5 13.16 LOC100996465 0 genome.wustl.edu 37 X 153150822 153150822 + Missense_Mutation SNP G G C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 153150822 153150822 G C SNP LOC100996465 ENST00000357566 human ensembl 74_37 +1 known missense c.58 p.V20L 0.000 NULL NULL - no_errors LCA10 Uniprot_gn ENSG00000196987 tier1 - - 51 0 0.00 45 10 18.18 LRG1 0 genome.wustl.edu 37 19 4538426 4538426 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 4538426 4538426 C T SNP LRG1 ENST00000306390 human ensembl 74_37 -1 known silent c.570 p.L190 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 tier1 - - 46 0 0.00 26 19 42.22 LRP1B 0 genome.wustl.edu 37 2 141762950 141762950 + Silent SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 141762950 141762950 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.2457 p.A819 0.986 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 - - 65 0 0.00 34 5 12.82 LRP8 0 genome.wustl.edu 37 1 53792603 53792604 + Frame_Shift_Del DEL AG AG - TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 53792603 53792604 AG - DEL LRP8 ENST00000306052 human ensembl 74_37 -1 known frame_shift_del c.186_185 p.S62fs 0.013:0.038 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP8 HGNC ENSG00000157193 tier1 50 0 0.00 27 8 22.86 LRRC71 0 genome.wustl.edu 37 1 156896983 156896983 + RNA SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 156896983 156896983 C T SNP LRRC71 ENST00000490146 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC71 HGNC ENSG00000160838 tier1 - - 35 0 0.00 28 10 26.32 MAP3K11 0 genome.wustl.edu 37 11 65380856 65380856 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 65380856 65380856 G A SNP MAP3K11 ENST00000309100 human ensembl 74_37 -1 known silent c.372 p.G124 0.984 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K11 HGNC ENSG00000173327 tier1 - - 95 0 0.00 59 7 10.61 MED19 0 genome.wustl.edu 37 11 57471809 57471809 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 57471809 57471809 G A SNP MED19 ENST00000431606 human ensembl 74_37 -1 known missense c.631 p.R211W 1.000 pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34 pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors MED19 HGNC ENSG00000156603 tier1 - - 82 0 0.00 36 22 37.93 MFSD12 0 genome.wustl.edu 37 19 3546079 3546079 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 3546079 3546079 G T SNP MFSD12 ENST00000398558 human ensembl 74_37 -1 known missense c.1282 p.P428T 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 tier1 - - 35 0 0.00 46 4 8.00 MIEF1 0 genome.wustl.edu 37 22 39909685 39909685 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 22 39909685 39909685 G A SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known missense c.749 p.R250H 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 48 0 0.00 36 3 7.69 MIR137HG 0 genome.wustl.edu 37 1 98511789 98511789 + RNA SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 98511789 98511789 C T SNP MIR137HG ENST00000424528 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors MIR137HG HGNC ENSG00000225206 tier1 - - 29 0 0.00 28 5 15.15 MLLT4 0 genome.wustl.edu 37 6 168347466 168347466 + Silent SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 168347466 168347466 G T SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known silent c.3417 p.G1139 0.981 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 - - 61 0 0.00 61 4 6.15 MRC2 0 genome.wustl.edu 37 17 60743551 60743551 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 60743551 60743551 G A SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.617 p.R206H 0.987 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,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,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 tier1 - - 30 0 0.00 23 11 32.35 MRPL2 0 genome.wustl.edu 37 6 43024117 43024117 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 43024117 43024117 C T SNP MRPL2 ENST00000388752 human ensembl 74_37 -1 known missense c.332 p.R111H 0.998 pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_NA-bd_OB-fold pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold - no_errors MRPL2 HGNC ENSG00000112651 tier1 rs143952438 - 76 0 0.00 52 5 8.77 MSN 0 genome.wustl.edu 37 X 64959699 64959699 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 64959699 64959699 C T SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.1678 p.R560C 1.000 pirsf_ERM,pfam_ERM_C_dom,superfamily_Moesin_tail,prints_Ez/rad/moesin_like pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 tier1 - - 63 0 0.00 41 29 41.43 MT-RNR2 0 genome.wustl.edu 37 MT 2392 2392 + RNA SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f MT 2392 2392 T C SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 263 0 0.00 45 115 71.88 MT-TV 0 genome.wustl.edu 37 MT 1660 1660 + RNA SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f MT 1660 1660 G A SNP MT-TV ENST00000387342 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TV HGNC ENSG00000210077 tier1 - - 9 0 0.00 0 4 100.00 MTUS1 0 genome.wustl.edu 37 8 17504627 17504627 + RNA DEL A A - TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 17504627 17504627 A - DEL MTUS1 ENST00000518889 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MTUS1 HGNC ENSG00000129422 tier1 29 0 0.00 23 2 8.00 MUC16 0 genome.wustl.edu 37 19 9063745 9063745 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 9063745 9063745 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.23701 p.A7901T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 82 0 0.00 68 4 5.56 MUC5B 0 genome.wustl.edu 37 11 1247857 1247857 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 1247857 1247857 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.212 p.A71V 0.009 smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 37 0 0.00 25 3 10.71 MYH7B 0 genome.wustl.edu 37 20 33570357 33570357 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 20 33570357 33570357 C T SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.749 p.A250V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 62 0 0.00 79 7 8.14 MYOM1 0 genome.wustl.edu 37 18 3187493 3187493 + Missense_Mutation SNP T T G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 18 3187493 3187493 T G SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known missense c.914 p.E305A 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 105 0 0.00 71 4 5.33 NACA 0 genome.wustl.edu 37 12 57112994 57112994 + Missense_Mutation SNP C C G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 12 57112994 57112994 C G SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.2320 p.D774H 0.784 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 23 0 0.00 11 2 15.38 NBEA 0 genome.wustl.edu 37 13 35806721 35806721 + Missense_Mutation SNP T T G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 13 35806721 35806721 T G SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.5741 p.L1914R 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 46 0 0.00 41 18 30.51 NEU4 0 genome.wustl.edu 37 2 242756291 242756291 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 242756291 242756291 C T SNP NEU4 ENST00000325935 human ensembl 74_37 +1 known missense c.443 p.S148L 0.929 superfamily_Sialidases superfamily_Sialidases - no_errors NEU4 HGNC ENSG00000204099 tier1 - - 36 0 0.00 33 17 34.00 NME8 0 genome.wustl.edu 37 7 37924817 37924817 + Missense_Mutation SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 37924817 37924817 A G SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.1210 p.R404G 0.898 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 tier1 - - 122 0 0.00 95 19 16.67 NMT1 0 genome.wustl.edu 37 17 43171133 43171133 + Missense_Mutation SNP T T G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 43171133 43171133 T G SNP NMT1 ENST00000258960 human ensembl 74_37 +1 known missense c.466 p.F156V 1.000 pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 tier1 - - 77 0 0.00 36 7 16.28 NRXN2 0 genome.wustl.edu 37 11 64434787 64434787 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 64434787 64434787 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.1733 p.A578V 0.996 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 - - 51 0 0.00 27 20 42.55 NUGGC 0 genome.wustl.edu 37 8 27922180 27922180 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 27922180 27922180 G A SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known silent c.780 p.A260 0.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 tier1 - - 81 0 0.00 48 10 17.24 NUP210 0 genome.wustl.edu 37 3 13372036 13372036 + Missense_Mutation SNP A A T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 3 13372036 13372036 A T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.4034 p.M1345K 0.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 tier1 - - 97 0 0.00 35 28 44.44 NXF2B 0 genome.wustl.edu 37 X 101620155 101620155 + Missense_Mutation SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 101620155 101620155 C A SNP NXF2B ENST00000372749 human ensembl 74_37 -1 known missense c.1291 p.D431Y 0.055 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF2B HGNC ENSG00000185945 tier1 - - 92 0 0.00 42 21 33.33 OR10H2 0 genome.wustl.edu 37 19 15839475 15839475 + Missense_Mutation SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 15839475 15839475 C A SNP OR10H2 ENST00000305899 human ensembl 74_37 +1 known missense c.622 p.L208M 0.291 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 OR10H2 HGNC ENSG00000171942 tier1 - - 142 0 0.00 119 15 11.19 OR4A15 0 genome.wustl.edu 37 11 55135883 55135883 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 55135883 55135883 C T SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.524 p.A175V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 tier1 - - 147 0 0.00 114 21 15.56 OR5D13 0 genome.wustl.edu 37 11 55541165 55541165 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 55541165 55541165 G T SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.252 p.L84F 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 tier1 - - 61 0 0.00 47 17 26.56 OR5M3 0 genome.wustl.edu 37 11 56237921 56237921 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 56237921 56237921 C T SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.53 p.R18H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 tier1 rs142752109 - 47 0 0.00 55 10 15.38 OR8U1 0 genome.wustl.edu 37 11 56143687 56143687 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 56143687 56143687 G T SNP OR8U1 ENST00000302270 human ensembl 74_37 +1 known missense c.588 p.Q196H 0.086 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 tier1 - - 122 0 0.00 120 14 10.45 OS9 0 genome.wustl.edu 37 12 58113911 58113911 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 12 58113911 58113911 C T SNP OS9 ENST00000315970 human ensembl 74_37 +1 known missense c.1630 p.R544W 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 tier1 - - 43 0 0.00 34 6 15.00 PARP3 0 genome.wustl.edu 37 3 51978457 51978459 + In_Frame_Del DEL AAG AAG - TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 3 51978457 51978459 AAG - DEL PARP3 ENST00000398755 human ensembl 74_37 +1 known in_frame_del c.385_387 p.K130in_frame_del 0.987:0.996:1.000 pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 tier1 48 0 0.00 22 8 26.67 PBX2 0 genome.wustl.edu 37 6 32157563 32157563 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 32157563 32157563 C T SNP PBX2 ENST00000375050 human ensembl 74_37 -1 known missense c.130 p.V44I 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX2 HGNC ENSG00000204304 38 0 0.00 33 5 13.16 PCDHAC1 0 genome.wustl.edu 37 5 140308191 140308191 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 5 140308191 140308191 C T SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.1714 p.R572C 0.956 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 23 0 0.00 20 4 16.67 PCDHB8 0 genome.wustl.edu 37 5 140558400 140558400 + Missense_Mutation SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 5 140558400 140558400 T C SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.785 p.V262A 0.075 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 tier1 - - 161 0 0.00 111 17 13.28 PCDHB8 0 genome.wustl.edu 37 5 140559730 140559730 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 5 140559730 140559730 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.2115 p.S705 0.021 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 tier1 - - 175 0 0.00 101 40 28.37 PCDHGA3 0 genome.wustl.edu 37 5 140725857 140725857 + Missense_Mutation SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 5 140725857 140725857 T C SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.2257 p.Y753H 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 tier1 - - 82 0 0.00 48 8 14.29 PEG3 0 genome.wustl.edu 37 19 57325572 57325572 + Missense_Mutation SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 57325572 57325572 A G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.4238 p.V1413A 0.676 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 - - 60 0 0.00 45 19 29.69 PIK3AP1 0 genome.wustl.edu 37 10 98412497 98412497 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 10 98412497 98412497 C T SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known missense c.670 p.A224T 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 tier1 - - 56 0 0.00 45 4 8.16 PIK3C2A 0 genome.wustl.edu 37 11 17134183 17134183 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 17134183 17134183 G A SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known missense c.3352 p.P1118S 1.000 superfamily_Kinase-like_dom 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_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 tier1 - - 23 0 0.00 9 4 28.57 PIK3C2B 0 genome.wustl.edu 37 1 204429718 204429718 + Missense_Mutation SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 204429718 204429718 A G SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.1382 p.L461P 1.000 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom 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 - - 46 0 0.00 24 11 31.43 PIK3R6 0 genome.wustl.edu 37 17 8722421 8722421 + Missense_Mutation SNP A A T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 8722421 8722421 A T SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known missense c.1972 p.L658M 0.990 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 tier1 - - 51 0 0.00 14 13 48.15 PKHD1L1 0 genome.wustl.edu 37 8 110425678 110425678 + Missense_Mutation SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 110425678 110425678 C A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.2264 p.A755E 0.999 NULL 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 tier1 - - 29 0 0.00 20 6 23.08 PLCL1 0 genome.wustl.edu 37 2 198966062 198966062 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 198966062 198966062 G T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.2973 p.K991N 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 36 0 0.00 34 4 10.53 PLEKHM1 0 genome.wustl.edu 37 17 43522867 43522867 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 43522867 43522867 G A SNP PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known missense c.2806 p.R936W 1.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 tier1 - - 27 0 0.00 17 4 19.05 PLEKHM1P 0 genome.wustl.edu 37 17 62788498 62788498 + RNA SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 62788498 62788498 G A SNP PLEKHM1P ENST00000578036 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PLEKHM1P HGNC ENSG00000214176 tier1 - - 13 0 0.00 15 11 42.31 PMS2 0 genome.wustl.edu 37 7 6017359 6017359 + Missense_Mutation SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 6017359 6017359 A G SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known missense c.2305 p.S769P 1.000 pfam_MutL_C,smart_MutL_C pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 tier1 - - 58 0 0.00 30 22 42.31 POC1B 0 genome.wustl.edu 37 12 89865998 89865998 + Missense_Mutation SNP T T G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 12 89865998 89865998 T G SNP POC1B ENST00000313546 human ensembl 74_37 -1 known missense c.507 p.K169N 1.000 pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1B HGNC ENSG00000139323 60 0 0.00 40 4 9.09 POLDIP2 0 genome.wustl.edu 37 17 26678702 26678702 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 26678702 26678702 G A SNP POLDIP2 ENST00000540200 human ensembl 74_37 -1 known silent c.744 p.Y248 1.000 superfamily_ApaG_domain,pfscan_ApaG_domain pfam_ApaG_domain,pfam_Hemimethylated_DNA-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_DNA-bd_dom,pfscan_ApaG_domain - no_errors POLDIP2 HGNC ENSG00000004142 31 0 0.00 28 3 9.68 POP1 0 genome.wustl.edu 37 8 99170327 99170327 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 99170327 99170327 C T SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.2903 p.T968I 1.000 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 tier1 - - 41 0 0.00 22 74 77.08 PPFIA2 0 genome.wustl.edu 37 12 81657153 81657153 + Missense_Mutation SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 12 81657153 81657153 A C SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.3572 p.F1191C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 30 0 0.00 27 7 20.59 PPP1R3A 0 genome.wustl.edu 37 7 113519600 113519600 + Missense_Mutation SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 113519600 113519600 T C SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1547 p.D516G 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 58 0 0.00 38 16 29.63 PRAC2 0 genome.wustl.edu 37 17 46801724 46801724 + RNA SNP T T G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 46801724 46801724 T G SNP PRAC2 ENST00000422730 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRAC2 HGNC ENSG00000229637 24 0 0.00 21 5 19.23 PRAMEF14 0 genome.wustl.edu 37 1 13668960 13668960 + Missense_Mutation SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 13668960 13668960 C A SNP PRAMEF14 ENST00000344998 human ensembl 74_37 -1 known missense c.1226 p.C409F 0.062 NULL NULL - no_errors PRAMEF14 HGNC ENSG00000204481 tier1 - - 32 0 0.00 24 6 20.00 PRDX4 0 genome.wustl.edu 37 X 23685898 23685898 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 23685898 23685898 G A SNP PRDX4 ENST00000379341 human ensembl 74_37 +1 known missense c.211 p.D71N 0.993 NULL pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors PRDX4 HGNC ENSG00000123131 tier1 - - 70 0 0.00 44 36 45.00 PREX2 0 genome.wustl.edu 37 8 69058490 69058490 + Silent SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 69058490 69058490 A G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.4134 p.K1378 0.995 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 39 0 0.00 36 10 21.74 PRSS3 0 genome.wustl.edu 37 9 33796660 33796660 + Silent SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 9 33796660 33796660 T C SNP PRSS3 ENST00000361005 human ensembl 74_37 +1 known silent c.231 p.D77 0.998 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 76 0 0.00 99 8 7.48 PSG8 0 genome.wustl.edu 37 19 43262165 43262165 + Missense_Mutation SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 43262165 43262165 A C SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known missense c.698 p.L233R 0.197 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG8 HGNC ENSG00000124467 tier1 - - 309 0 0.00 200 61 23.37 PTP4A2 0 genome.wustl.edu 37 1 32384704 32384704 + RNA SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 32384704 32384704 G A SNP PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors PTP4A2 HGNC ENSG00000184007 tier1 - - 64 0 0.00 45 9 16.67 RECQL4 0 genome.wustl.edu 37 8 145739086 145739086 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 145739086 145739086 G A SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.2069 p.T690M 0.996 superfamily_P-loop_NTPase,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 tier1 - - 33 0 0.00 28 8 22.22 RIMS2 0 genome.wustl.edu 37 8 104513161 104513161 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 104513161 104513161 C T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.47 p.A16V 1.000 NULL 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 - - 30 0 0.00 28 66 70.21 RIMS2 0 genome.wustl.edu 37 8 104898169 104898169 + Silent SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 104898169 104898169 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1342 p.L448 0.117 NULL 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 - - 34 0 0.00 25 61 70.93 RNF213 0 genome.wustl.edu 37 17 78268540 78268540 + Missense_Mutation SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 78268540 78268540 T C SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.1493 p.I498T 0.412 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 54 0 0.00 34 3 8.11 RP1 0 genome.wustl.edu 37 8 55541559 55541559 + Missense_Mutation SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 55541559 55541559 T C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.5117 p.V1706A 0.144 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 79 0 0.00 55 23 29.49 RPL35 0 genome.wustl.edu 37 9 127620266 127620266 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 9 127620266 127620266 G T SNP RPL35 ENST00000348462 human ensembl 74_37 -1 known missense c.303 p.N101K 0.998 NULL pfam_Ribosomal_L29,superfamily_Ribosomal_L29,tigrfam_Ribosomal_L29 - no_errors RPL35 HGNC ENSG00000136942 65 0 0.00 55 4 6.78 RPL36AL 0 genome.wustl.edu 37 14 50085611 50085611 + Missense_Mutation SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 14 50085611 50085611 T C SNP RPL36AL ENST00000298289 human ensembl 74_37 -1 known missense c.212 p.E71G 1.000 pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd - no_errors RPL36AL HGNC ENSG00000165502 tier1 - - 82 0 0.00 65 11 14.47 RPS21 0 genome.wustl.edu 37 20 60963477 60963477 + RNA SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 20 60963477 60963477 C T SNP RPS21 ENST00000492356 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RPS21 HGNC ENSG00000171858 tier1 - - 124 0 0.00 107 30 21.90 RSPH1 0 genome.wustl.edu 37 21 43913166 43913166 + Missense_Mutation SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 21 43913166 43913166 C A SNP RSPH1 ENST00000291536 human ensembl 74_37 -1 known missense c.78 p.E26D 0.623 NULL pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 tier1 - - 67 0 0.00 34 26 43.33 RSPH1 0 genome.wustl.edu 37 21 43913176 43913176 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 21 43913176 43913176 C T SNP RSPH1 ENST00000291536 human ensembl 74_37 -1 known missense c.68 p.G23D 0.405 NULL pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 tier1 - - 67 0 0.00 31 20 39.22 RSPH10B2 0 genome.wustl.edu 37 7 6803595 6803595 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 6803595 6803595 G A SNP RSPH10B2 ENST00000297186 human ensembl 74_37 +1 known missense c.436 p.V146M 0.000 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC ENSG00000169402 70 0 0.00 66 7 9.59 RSRC2 0 genome.wustl.edu 37 12 123005118 123005118 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 12 123005118 123005118 G A SNP RSRC2 ENST00000433877 human ensembl 74_37 -1 known missense c.218 p.A73V 1.000 NULL NULL - no_errors RSRC2 HGNC ENSG00000111011 tier1 - - 34 0 0.00 29 4 12.12 RYR2 0 genome.wustl.edu 37 1 237890425 237890425 + Missense_Mutation SNP T T G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 237890425 237890425 T G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.10758 p.H3586Q 0.995 NULL 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 - - 52 0 0.00 42 15 26.32 SACS 0 genome.wustl.edu 37 13 23905799 23905799 + Silent SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 13 23905799 23905799 A C SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.12216 p.T4072 0.033 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 20 0 0.00 15 7 31.82 SCN2A 0 genome.wustl.edu 37 2 166245431 166245431 + Silent SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 166245431 166245431 C A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.5115 p.I1705 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 83 0 0.00 54 16 22.86 SFI1 0 genome.wustl.edu 37 22 32002366 32002366 + Frame_Shift_Del DEL A A - TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 22 32002366 32002366 A - DEL SFI1 ENST00000400288 human ensembl 74_37 +1 known frame_shift_del c.2107 p.T705fs 0.055 superfamily_Cyclin-like superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 tier1 23 0 0.00 12 2 14.29 SLA2 0 genome.wustl.edu 37 20 35242298 35242298 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 20 35242298 35242298 C T SNP SLA2 ENST00000262866 human ensembl 74_37 -1 known missense c.757 p.D253N 0.546 NULL pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA2 HGNC ENSG00000101082 59 0 0.00 43 4 8.51 SLC36A3 0 genome.wustl.edu 37 5 150657079 150657079 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 5 150657079 150657079 C T SNP SLC36A3 ENST00000377713 human ensembl 74_37 -1 known missense c.1411 p.A471T 0.979 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A3 HGNC ENSG00000186334 tier1 - - 58 0 0.00 40 5 11.11 SMAD4 0 genome.wustl.edu 37 18 48573437 48573437 + Silent SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 18 48573437 48573437 G T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known silent c.21 p.T7 0.665 NULL pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 56 0 0.00 25 2 7.41 SMARCA5 0 genome.wustl.edu 37 4 144457812 144457812 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 4 144457812 144457812 C T SNP SMARCA5 ENST00000283131 human ensembl 74_37 +1 known silent c.1476 p.L492 0.777 pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 19 0 0.00 15 5 25.00 SMC2 0 genome.wustl.edu 37 9 106862398 106862398 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 9 106862398 106862398 G T SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.505 p.A169S 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 35 0 0.00 33 2 5.71 SMG9 0 genome.wustl.edu 37 19 44251857 44251857 + Nonsense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 44251857 44251857 G A SNP SMG9 ENST00000270066 human ensembl 74_37 -1 known nonsense c.418 p.Q140* 1.000 NULL pfam_Smg8/Smg9,superfamily_P-loop_NTPase - no_errors SMG9 HGNC ENSG00000105771 tier1 - - 54 0 0.00 31 5 13.89 SMIM11 0 genome.wustl.edu 37 21 35774492 35774492 + RNA DEL T T - TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 21 35774492 35774492 T - DEL SMIM11 ENST00000481710 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SMIM11 HGNC ENSG00000205670 tier1 19 0 0.00 13 6 31.58 SNAP91 0 genome.wustl.edu 37 6 84302714 84302714 + Frame_Shift_Del DEL T T - TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 84302714 84302714 T 0 DEL SNAP91 ENST00000369694 human ensembl 74_37 -1 known frame_shift_del c.1797 p.A601fs 0.992 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 8 0 0.00 4 2 33.33 SOBP 0 genome.wustl.edu 37 6 107956647 107956647 + Nonsense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 107956647 107956647 C T SNP SOBP ENST00000317357 human ensembl 74_37 +1 known nonsense c.2599 p.R867* 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 tier1 - - 20 0 0.00 16 12 42.86 SPATA31D1 0 genome.wustl.edu 37 9 84610022 84610022 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 9 84610022 84610022 C T SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.4637 p.A1546V 0.066 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 46 0 0.00 41 11 21.15 SPIN3 0 genome.wustl.edu 37 X 57021369 57021369 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 57021369 57021369 C T SNP SPIN3 ENST00000374919 human ensembl 74_37 -1 known silent c.12 p.P4 0.006 NULL pfam_Spin_Ssty - no_errors SPIN3 HGNC ENSG00000204271 tier1 - - 48 0 0.00 32 19 37.25 SPTBN4 0 genome.wustl.edu 37 19 41025471 41025471 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 41025471 41025471 C T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.3067 p.R1023C 0.991 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 34 0 0.00 21 3 12.50 SRCAP 0 genome.wustl.edu 37 16 30750430 30750430 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 16 30750430 30750430 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.9069 p.P3023 0.987 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 - - 43 0 0.00 27 6 18.18 SSBP2 0 genome.wustl.edu 37 5 80716264 80716264 + RNA SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 5 80716264 80716264 G A SNP SSBP2 ENST00000510060 human ensembl 74_37 -1 known rna NULL NULL 0.894 - - - no_errors SSBP2 HGNC ENSG00000145687 tier1 - - 66 0 0.00 45 10 18.18 SSTR3 0 genome.wustl.edu 37 22 37602896 37602896 + Missense_Mutation SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 22 37602896 37602896 A C SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known missense c.947 p.L316R 1.000 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 tier1 - - 93 0 0.00 73 15 17.05 STAB1 0 genome.wustl.edu 37 3 52546871 52546871 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 3 52546871 52546871 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.3055 p.R1019C 0.000 pfam_FAS1_domain,superfamily_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 - - 43 0 0.00 15 11 42.31 STAU1 0 genome.wustl.edu 37 20 47734455 47734455 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 20 47734455 47734455 G A SNP STAU1 ENST00000371856 human ensembl 74_37 -1 known silent c.1368 p.A456 1.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU1 HGNC ENSG00000124214 tier1 - - 72 0 0.00 87 16 15.53 SULF1 0 genome.wustl.edu 37 8 70551032 70551032 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 70551032 70551032 G T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.2490 p.M830I 1.000 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 - - 34 0 0.00 29 4 12.12 SVEP1 0 genome.wustl.edu 37 9 113228183 113228183 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 9 113228183 113228183 G T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.3284 p.T1095N 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 37 0 0.00 29 2 6.45 SYNE1 0 genome.wustl.edu 37 6 152676068 152676068 + Nonsense_Mutation SNP G G C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 152676068 152676068 G C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known nonsense c.10652 p.S3551* 0.957 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 45 0 0.00 32 6 15.79 TBC1D27 0 genome.wustl.edu 37 17 16832578 16832578 + RNA SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 16832578 16832578 A C SNP TBC1D27 ENST00000261651 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors TBC1D27 HGNC ENSG00000128438 tier1 - - 19 0 0.00 8 3 27.27 TENM1 0 genome.wustl.edu 37 X 123779098 123779098 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 123779098 123779098 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.1771 p.V591I 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 rs201117886 - 38 0 0.00 42 10 19.23 TET1 0 genome.wustl.edu 37 10 70432744 70432744 + Missense_Mutation SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 10 70432744 70432744 A C SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.4766 p.K1589T 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 tier1 - - 82 0 0.00 56 16 22.22 TEX101 0 genome.wustl.edu 37 19 43920564 43920564 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 43920564 43920564 C T SNP TEX101 ENST00000253435 human ensembl 74_37 +1 known missense c.302 p.P101L 0.000 NULL pfam_LY6_UPAR - no_errors TEX101 HGNC ENSG00000131126 tier1 rs148052365 - 62 0 0.00 30 21 41.18 TEX15 0 genome.wustl.edu 37 8 30700453 30700453 + Silent SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 8 30700453 30700453 A G SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known silent c.6081 p.D2027 0.799 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 tier1 - - 44 0 0.00 27 15 35.71 TGM6 0 genome.wustl.edu 37 20 2413135 2413135 + Splice_Site SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 20 2413135 2413135 G A SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known splice_site c.1968-1 e13-1 0.796 - - - no_errors TGM6 HGNC ENSG00000166948 tier1 - - 41 0 0.00 40 6 13.04 THEMIS2 0 genome.wustl.edu 37 1 28208692 28208692 + Missense_Mutation SNP G G C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 28208692 28208692 G C SNP THEMIS2 ENST00000373921 human ensembl 74_37 +1 known missense c.857 p.G286A 1.000 NULL NULL - no_errors THEMIS2 HGNC ENSG00000130775 tier1 - - 64 0 0.00 32 12 27.27 TMEM248 0 genome.wustl.edu 37 7 66406853 66406853 + Missense_Mutation SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 7 66406853 66406853 A C SNP TMEM248 ENST00000341567 human ensembl 74_37 +1 known missense c.1 p.M1L 1.000 NULL NULL - no_errors TMEM248 HGNC ENSG00000106609 26 0 0.00 30 3 9.09 TMEM41B 0 genome.wustl.edu 37 11 9310086 9310086 + Nonsense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 9310086 9310086 G T SNP TMEM41B ENST00000524543 human ensembl 74_37 -1 known nonsense c.372 p.Y124* 0.983 NULL NULL - no_errors TMEM41B HGNC ENSG00000166471 tier1 - - 21 0 0.00 20 5 20.00 TMF1 0 genome.wustl.edu 37 3 69097567 69097567 + Missense_Mutation SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 3 69097567 69097567 A C SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known missense c.289 p.F97V 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 tier1 - - 43 0 0.00 45 8 15.09 TMX2 0 genome.wustl.edu 37 11 57506730 57506730 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 11 57506730 57506730 G A SNP TMX2 ENST00000278422 human ensembl 74_37 +1 known missense c.742 p.E248K 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX2 HGNC ENSG00000213593 39 0 0.00 39 5 11.36 TOB1 0 genome.wustl.edu 37 17 48940888 48940888 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 48940888 48940888 C T SNP TOB1 ENST00000268957 human ensembl 74_37 -1 known missense c.491 p.S164N 1.000 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB1 HGNC ENSG00000141232 tier1 - - 48 0 0.00 43 12 21.82 TP53 0 genome.wustl.edu 37 17 7579414 7579414 + Nonsense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 17 7579414 7579414 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.273 p.W91* 1.000 NULL 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 - - 248 0 0.00 125 75 37.31 TPD52L1 0 genome.wustl.edu 37 6 125569519 125569519 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 6 125569519 125569519 G A SNP TPD52L1 ENST00000534000 human ensembl 74_37 +1 known missense c.376 p.G126R 1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 tier1 - - 20 0 0.00 32 9 21.95 TPRN 0 genome.wustl.edu 37 9 140093662 140093662 + Missense_Mutation SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 9 140093662 140093662 A G SNP TPRN ENST00000409012 human ensembl 74_37 -1 known missense c.1502 p.F501S 1.000 NULL NULL - no_errors TPRN HGNC ENSG00000176058 tier1 - - 44 0 0.00 20 8 28.57 TRAPPC10 0 genome.wustl.edu 37 21 45502896 45502896 + Missense_Mutation SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 21 45502896 45502896 T C SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known missense c.1951 p.S651P 0.024 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 tier1 - - 37 0 0.00 28 18 39.13 TRHDE 0 genome.wustl.edu 37 12 73014977 73014977 + Silent SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 12 73014977 73014977 C T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known silent c.2424 p.Y808 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 59 0 0.00 45 18 28.57 TRIM13 0 genome.wustl.edu 37 13 50586140 50586140 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 13 50586140 50586140 G A SNP TRIM13 ENST00000298772 human ensembl 74_37 +1 known missense c.73 p.V25I 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM13 HGNC ENSG00000204977 tier1 - - 43 0 0.00 38 19 33.33 TSGA10 0 genome.wustl.edu 37 2 99722121 99722121 + Missense_Mutation SNP T T C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 99722121 99722121 T C SNP TSGA10 ENST00000355053 human ensembl 74_37 -1 known missense c.250 p.K84E 1.000 NULL NULL - no_errors TSGA10 HGNC ENSG00000135951 tier1 - - 23 0 0.00 22 6 21.43 TTN 0 genome.wustl.edu 37 2 179579062 179579062 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 179579062 179579062 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.22707 p.N7569K 0.977 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 27 0 0.00 17 5 22.73 TTN 0 genome.wustl.edu 37 2 179596611 179596611 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 179596611 179596611 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.13259 p.P4420H 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 68 0 0.00 60 4 6.25 TTN 0 genome.wustl.edu 37 2 179640598 179640598 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 179640598 179640598 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5993 p.R1998H 1.000 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 rs144135510 - 43 0 0.00 34 13 27.66 UBASH3A 0 genome.wustl.edu 37 21 43829716 43829716 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 21 43829716 43829716 C T SNP UBASH3A ENST00000319294 human ensembl 74_37 +1 known missense c.353 p.T118M 1.000 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC ENSG00000160185 39 0 0.00 22 2 8.33 URB2 0 genome.wustl.edu 37 1 229773808 229773808 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 229773808 229773808 C T SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.3448 p.H1150Y 0.015 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 tier1 - - 38 0 0.00 31 6 16.22 USH2A 0 genome.wustl.edu 37 1 216497030 216497030 + Missense_Mutation SNP G G C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 216497030 216497030 G C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.1336 p.P446A 1.000 smart_Laminin_N,pfscan_Laminin_N 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 12 0 0.00 11 6 35.29 WDR43 0 genome.wustl.edu 37 2 29140791 29140791 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 29140791 29140791 C T SNP WDR43 ENST00000407426 human ensembl 74_37 +1 known missense c.779 p.A260V 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC ENSG00000163811 tier1 - - 104 0 0.00 55 4 6.78 XKR8 0 genome.wustl.edu 37 1 28290117 28290117 + Missense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 1 28290117 28290117 C T SNP XKR8 ENST00000373884 human ensembl 74_37 +1 known missense c.403 p.L135F 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR8 HGNC ENSG00000158156 tier1 - - 41 0 0.00 31 10 24.39 ZDHHC11B 0 genome.wustl.edu 37 5 733935 733935 + Silent SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 5 733935 733935 G A SNP ZDHHC11B ENST00000382776 human ensembl 74_37 -1 known silent c.955 p.L319 0.001 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 - - 28 0 0.00 23 5 17.86 ZFP2 0 genome.wustl.edu 37 5 178359071 178359071 + Nonsense_Mutation SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 5 178359071 178359071 C T SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known nonsense c.757 p.Q253* 0.529 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 tier1 - - 46 0 0.00 26 4 13.33 ZIC4 0 genome.wustl.edu 37 3 147106021 147106021 + RNA SNP C C T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 3 147106021 147106021 C T SNP ZIC4 ENST00000472749 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors ZIC4 HGNC ENSG00000174963 tier1 - - 22 0 0.00 10 10 50.00 ZMYM3 0 genome.wustl.edu 37 X 70469460 70469460 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 70469460 70469460 G A SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.1327 p.R443W 1.000 smart_TRASH_dom pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 41 0 0.00 47 9 16.07 ZNF208 0 genome.wustl.edu 37 19 22155173 22155173 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 22155173 22155173 G T SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2663 p.P888H 0.084 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 tier1 - - 33 0 0.00 22 5 18.52 ZNF257 0 genome.wustl.edu 37 19 22270892 22270892 + Silent SNP A A C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 22270892 22270892 A C SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known silent c.340 p.R114 0.005 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 tier1 - - 77 0 0.00 37 8 17.78 ZNF337 0 genome.wustl.edu 37 20 25657617 25657617 + Missense_Mutation SNP G G T TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 20 25657617 25657617 G T SNP ZNF337 ENST00000252979 human ensembl 74_37 -1 known missense c.307 p.Q103K 0.618 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 ZNF337 HGNC ENSG00000130684 tier1 - - 43 0 0.00 52 8 13.33 ZNF382 0 genome.wustl.edu 37 19 37118379 37118379 + Missense_Mutation SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 37118379 37118379 A G SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known missense c.1580 p.K527R 0.998 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 ZNF382 HGNC ENSG00000161298 tier1 - - 49 0 0.00 22 5 18.52 ZNF536 0 genome.wustl.edu 37 19 30935178 30935178 + Missense_Mutation SNP G G A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 30935178 30935178 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.709 p.A237T 0.932 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 8 0 0.00 5 4 44.44 ZNF638 0 genome.wustl.edu 37 2 71576566 71576566 + Missense_Mutation SNP C C A TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 71576566 71576566 C A SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.482 p.P161H 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 21 0 0.00 33 2 5.71 ZNF726 0 genome.wustl.edu 37 19 24116956 24116956 + Missense_Mutation SNP G G C TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 19 24116956 24116956 G C SNP ZNF726 ENST00000322487 human ensembl 74_37 +1 known missense c.1877 p.C626S 0.998 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 - - 34 0 0.00 30 4 11.76 ZNF804A 0 genome.wustl.edu 37 2 185801978 185801978 + Missense_Mutation SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f 2 185801978 185801978 A G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1855 p.K619E 0.645 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 30 0 0.00 22 8 26.67 ZNF81 0 genome.wustl.edu 37 X 47774637 47774637 + Missense_Mutation SNP A A G TCGA-L5-A4OG-01A-11D-A27G-09 TCGA-L5-A4OG-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ed3ca80-a102-4b10-8db6-6731c3ed2055 8a7c92d1-444c-481f-b02f-81285ae3002f X 47774637 47774637 A G SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known missense c.592 p.S198G 0.022 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 ZNF81 HGNC ENSG00000197779 tier1 - - 46 0 0.00 22 19 46.34