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 ABCB7 0 genome.wustl.edu 37 X 74289232 74289232 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 74289232 74289232 C T SNP ABCB7 ENST00000253577 human ensembl 74_37 -1 known missense c.1426 p.D476N 1.000 superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,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 - no_errors ABCB7 HGNC ENSG00000131269 tier1 - - 51 0 0.00 32 36 52.94 ACAN 0 genome.wustl.edu 37 15 89392809 89392809 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 89392809 89392809 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.1873 p.G625S 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 19 0 0.00 26 6 18.75 ACAN 0 genome.wustl.edu 37 15 89398471 89398471 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 89398471 89398471 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known silent c.2655 p.Q885 0.288 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 tier1 - - 65 0 0.00 64 11 14.67 ADCY3 0 genome.wustl.edu 37 2 25050898 25050898 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 25050898 25050898 C T SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.2305 p.V769M 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 tier1 - - 68 0 0.00 54 38 41.30 ADCY8 0 genome.wustl.edu 37 8 131792852 131792852 + Silent SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 131792852 131792852 G T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.3540 p.I1180 0.988 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 tier1 - - 139 0 0.00 89 30 25.21 AEBP1 0 genome.wustl.edu 37 7 44150787 44150787 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 44150787 44150787 G A SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known silent c.1665 p.V555 0.046 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 tier1 - - 66 0 0.00 38 13 25.49 AGPS 0 genome.wustl.edu 37 2 178305743 178305743 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 178305743 178305743 C A SNP AGPS ENST00000264167 human ensembl 74_37 +1 known missense c.688 p.L230I 1.000 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 tier1 - - 73 0 0.00 39 7 15.22 AGT 0 genome.wustl.edu 37 1 230838970 230838970 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 230838970 230838970 G C SNP AGT ENST00000366667 human ensembl 74_37 -1 known missense c.1375 p.P459A 0.529 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen - no_errors AGT HGNC ENSG00000135744 tier1 - - 132 0 0.00 66 62 48.06 AKAP9 0 genome.wustl.edu 37 7 91708840 91708840 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 91708840 91708840 C G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.7429 p.L2477V 0.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 tier1 - - 95 0 0.00 79 18 18.37 AMELX 0 genome.wustl.edu 37 X 11316866 11316866 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 11316866 11316866 C T SNP AMELX ENST00000380712 human ensembl 74_37 +1 known missense c.385 p.H129Y 1.000 pfam_Amelogenin,smart_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC ENSG00000125363 tier1 - - 73 0 0.00 39 27 40.91 AMPH 0 genome.wustl.edu 37 7 38433793 38433793 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 38433793 38433793 C T SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.1420 p.D474N 0.009 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 tier1 - - 67 0 0.00 50 32 39.02 ANO10 0 genome.wustl.edu 37 3 43618239 43618239 + Silent SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 43618239 43618239 C G SNP ANO10 ENST00000292246 human ensembl 74_37 -1 known silent c.1107 p.V369 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 tier1 - - 43 0 0.00 17 23 57.50 APBA2 0 genome.wustl.edu 37 15 29346097 29346097 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 29346097 29346097 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.10 p.R4W 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 tier1 - - 43 0 0.00 17 8 32.00 AQR 0 genome.wustl.edu 37 15 35149250 35149250 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 35149250 35149250 C T SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.4201 p.E1401K 0.998 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 tier1 - - 66 0 0.00 7 32 82.05 ARID4B 0 genome.wustl.edu 37 1 235345769 235345769 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 235345769 235345769 C T SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.2465 p.R822H 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 tier1 - - 82 0 0.00 51 33 39.29 ARMC3 0 genome.wustl.edu 37 10 23321871 23321871 + Silent SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 23321871 23321871 G C SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known silent c.2328 p.L776 0.980 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 tier1 - - 40 0 0.00 14 12 46.15 ARVCF 0 genome.wustl.edu 37 22 19966559 19966559 + Missense_Mutation SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 19966559 19966559 T C SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.1441 p.I481V 1.000 superfamily_ARM-type_fold,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 tier1 - - 67 0 0.00 42 50 54.35 ATP10A 0 genome.wustl.edu 37 15 25972349 25972349 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 25972349 25972349 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.805 p.L269F 0.990 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 tier1 - - 115 0 0.00 35 51 59.30 ATP2B4 0 genome.wustl.edu 37 1 203672793 203672793 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 203672793 203672793 C T SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known silent c.951 p.D317 0.997 pfam_ATPase_P-typ_transduc_dom_A pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 tier1 rs145839216 - 160 0 0.00 78 57 42.22 B4GALT6 0 genome.wustl.edu 37 18 29246225 29246225 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 18 29246225 29246225 C G SNP B4GALT6 ENST00000306851 human ensembl 74_37 -1 known missense c.226 p.G76R 1.000 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT6 HGNC ENSG00000118276 tier1 - - 116 0 0.00 8 46 85.19 BEND7 0 genome.wustl.edu 37 10 13541841 13541841 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 13541841 13541841 C T SNP BEND7 ENST00000396900 human ensembl 74_37 -1 known missense c.385 p.G129R 1.000 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 tier1 - - 107 0 0.00 24 29 54.72 BPNT1 0 genome.wustl.edu 37 1 220236218 220236218 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 220236218 220236218 C T SNP BPNT1 ENST00000322067 human ensembl 74_37 -1 known missense c.553 p.V185I 0.997 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors BPNT1 HGNC ENSG00000162813 tier1 - - 78 0 0.00 67 14 17.28 BRCA2 0 genome.wustl.edu 37 13 32914295 32914295 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 32914295 32914295 A G SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.5803 p.N1935D 0.006 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 tier1 - - 61 0 0.00 364 29 7.36 BTNL9 0 genome.wustl.edu 37 5 180472558 180472558 + Silent SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 180472558 180472558 C G SNP BTNL9 ENST00000376842 human ensembl 74_37 +1 known silent c.69 p.L23 0.515 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTNL9 HGNC ENSG00000165810 tier1 - - 54 0 0.00 51 14 21.54 C12orf50 0 genome.wustl.edu 37 12 88379766 88379766 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 88379766 88379766 C T SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known silent c.987 p.A329 0.629 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 tier1 - - 134 0 0.00 93 83 47.16 C4orf19 0 genome.wustl.edu 37 4 37592151 37592151 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 37592151 37592151 G C SNP C4orf19 ENST00000284437 human ensembl 74_37 +1 known missense c.474 p.M158I 0.000 NULL NULL - no_errors C4orf19 HGNC ENSG00000154274 tier1 - - 93 0 0.00 56 28 33.33 C6 0 genome.wustl.edu 37 5 41176687 41176687 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 41176687 41176687 A G SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.1058 p.L353S 0.744 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 tier1 - - 83 0 0.00 79 13 14.13 C6orf1 0 genome.wustl.edu 37 6 34214850 34214850 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 34214850 34214850 C G SNP C6orf1 ENST00000394990 human ensembl 74_37 -1 known missense c.96 p.R32S 1.000 NULL NULL - no_errors C6orf1 HGNC ENSG00000186577 tier1 - - 202 0 0.00 194 56 22.40 CAP1 0 genome.wustl.edu 37 1 40536154 40536154 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 40536154 40536154 G C SNP CAP1 ENST00000372792 human ensembl 74_37 +1 known missense c.1170 p.E390D 1.000 pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 tier1 - - 91 0 0.00 31 26 45.61 CATSPER3 0 genome.wustl.edu 37 5 134343758 134343758 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 134343758 134343758 C G SNP CATSPER3 ENST00000282611 human ensembl 74_37 +1 known missense c.604 p.P202A 0.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 tier1 - - 111 0 0.00 96 11 10.28 CC2D1B 0 genome.wustl.edu 37 1 52822803 52822803 + RNA SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 52822803 52822803 C A SNP CC2D1B ENST00000460261 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors CC2D1B HGNC ENSG00000154222 tier1 - - 40 0 0.00 26 6 18.75 CC2D1B 0 genome.wustl.edu 37 1 52822804 52822804 + RNA SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 52822804 52822804 C T SNP CC2D1B ENST00000460261 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors CC2D1B HGNC ENSG00000154222 tier1 - - 39 0 0.00 26 6 18.75 CCAR1 0 genome.wustl.edu 37 10 70507209 70507209 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 70507209 70507209 G T SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.712 p.V238F 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 tier1 - - 198 0 0.00 96 46 32.39 CCDC85A 0 genome.wustl.edu 37 2 56603050 56603050 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 56603050 56603050 C T SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.1552 p.P518S 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 tier1 - - 54 0 0.00 20 25 55.56 CD93 0 genome.wustl.edu 37 20 23065878 23065878 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 23065878 23065878 C T SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.952 p.V318I 0.000 pirsf_CD93/CD141,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 75 0 0.00 62 13 17.33 CDH15 0 genome.wustl.edu 37 16 89253859 89253859 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 89253859 89253859 C A SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known missense c.686 p.T229N 0.977 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 tier1 - - 38 0 0.00 35 10 22.22 CDH23 0 genome.wustl.edu 37 10 73569611 73569611 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 73569611 73569611 C T SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known silent c.2037 p.L679 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 tier1 - - 175 0 0.00 69 64 48.12 CDK12 0 genome.wustl.edu 37 17 37627766 37627766 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 37627766 37627766 C A SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.1681 p.P561T 0.764 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 tier1 - - 345 0 0.00 6816 586 7.91 CDKL4 0 genome.wustl.edu 37 2 39431694 39431694 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 39431694 39431694 C A SNP CDKL4 ENST00000378803 human ensembl 74_37 -1 known missense c.428 p.C143F 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 CDKL4 HGNC ENSG00000205111 tier1 - - 59 0 0.00 42 8 15.69 CECR1 0 genome.wustl.edu 37 22 17662907 17662907 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 17662907 17662907 C T SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known silent c.1245 p.L415 0.998 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 tier1 - - 52 0 0.00 27 17 38.64 CERCAM 0 genome.wustl.edu 37 9 131198095 131198095 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 131198095 131198095 G A SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known missense c.1699 p.G567S 1.000 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 tier1 - - 31 0 0.00 20 11 35.48 CFH 0 genome.wustl.edu 37 1 196694302 196694302 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 196694302 196694302 A G SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1748 p.K583R 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 CFH HGNC ENSG00000000971 tier1 - - 51 0 0.00 28 25 47.17 CGNL1 0 genome.wustl.edu 37 15 57744397 57744397 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 57744397 57744397 G A SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.1964 p.R655Q 0.063 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 tier1 - - 56 0 0.00 33 9 20.93 CHL1 0 genome.wustl.edu 37 3 431088 431088 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 431088 431088 G T SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.2401 p.V801F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 68 0 0.00 52 5 8.77 CHRM2 0 genome.wustl.edu 37 7 136699890 136699890 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 136699890 136699890 C T SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.278 p.P93L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 233 0 0.00 91 83 47.70 CLEC2B 0 genome.wustl.edu 37 12 10010172 10010172 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 10010172 10010172 G C SNP CLEC2B ENST00000228438 human ensembl 74_37 -1 known missense c.138 p.C46W 0.460 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2B HGNC ENSG00000110852 tier1 - - 32 0 0.00 19 10 34.48 CNPPD1 0 genome.wustl.edu 37 2 220037339 220037339 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 220037339 220037339 G T SNP CNPPD1 ENST00000360507 human ensembl 74_37 -1 known missense c.1202 p.A401D 1.000 NULL pfam_Cyclin_PHO80-like,superfamily_Cyclin-like - no_errors CNPPD1 HGNC ENSG00000115649 tier1 - - 115 0 0.00 77 28 26.67 CNR1 0 genome.wustl.edu 37 6 88854385 88854385 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 88854385 88854385 G A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known silent c.609 p.S203 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 tier1 - - 70 0 0.00 76 9 10.59 CNTNAP5 0 genome.wustl.edu 37 2 124979336 124979336 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 124979336 124979336 C A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.137 p.S46Y 0.995 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 23 0 0.00 2 11 78.57 CNTNAP5 0 genome.wustl.edu 37 2 125192138 125192138 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 125192138 125192138 G T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.607 p.D203Y 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 73 0 0.00 43 18 29.51 COL1A2 0 genome.wustl.edu 37 7 94052403 94052403 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 94052403 94052403 G T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.2538 p.K846N 0.998 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 tier1 - - 90 0 0.00 96 18 15.79 COL26A1 0 genome.wustl.edu 37 7 101091051 101091051 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 101091051 101091051 G T SNP COL26A1 ENST00000313669 human ensembl 74_37 +1 known missense c.368 p.G123V 1.000 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain - no_errors COL26A1 HGNC ENSG00000160963 tier1 - - 12 0 0.00 11 4 26.67 COL27A1 0 genome.wustl.edu 37 9 116930114 116930114 + Silent SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 116930114 116930114 C G SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known silent c.279 p.A93 0.142 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 tier1 - - 163 0 0.00 160 31 15.98 COL5A3 0 genome.wustl.edu 37 19 10090546 10090546 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 10090546 10090546 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.2681 p.R894Q 0.001 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 115 0 0.00 108 17 13.60 CR1L 0 genome.wustl.edu 37 1 207870865 207870865 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 207870865 207870865 G T SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.880 p.D294Y 0.003 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 CR1L HGNC ENSG00000197721 tier1 - - 171 0 0.00 159 109 40.67 CREBBP 0 genome.wustl.edu 37 16 3778853 3778853 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 3778853 3778853 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known silent c.6195 p.S2065 0.819 pfam_Nuc_rcpt_coact_CREBbp,superfamily_Nuc_rcpt_coact pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 - - 80 0 0.00 316 27 7.87 CSMD2 0 genome.wustl.edu 37 1 33990533 33990533 + Nonsense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 33990533 33990533 T A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known nonsense c.10345 p.K3449* 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 119 0 0.00 34 103 75.18 CSMD3 0 genome.wustl.edu 37 8 113347685 113347685 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 113347685 113347685 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.7038 p.N2346K 0.996 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 - - 52 0 0.00 24 26 52.00 CUL9 0 genome.wustl.edu 37 6 43173095 43173095 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 43173095 43173095 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.4727 p.R1576Q 0.968 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 tier1 - - 317 0 0.00 206 140 40.35 CYP19A1 0 genome.wustl.edu 37 15 51507970 51507970 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 51507970 51507970 C A SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known missense c.788 p.R263I 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 tier1 - - 107 0 0.00 83 11 11.70 DCAF12L1 0 genome.wustl.edu 37 X 125686265 125686265 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 125686265 125686265 C A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.327 p.R109S 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 59 0 0.00 4 34 89.47 DCLK1 0 genome.wustl.edu 37 13 36686256 36686256 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 36686256 36686256 G C SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.473 p.S158W 0.999 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 84 0 0.00 351 22 5.90 DIAPH1 0 genome.wustl.edu 37 5 140896533 140896533 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 140896533 140896533 G A SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.3707 p.S1236L 0.960 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 tier1 - - 48 0 0.00 49 20 28.99 DLC1 0 genome.wustl.edu 37 8 12958192 12958192 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 12958192 12958192 C G SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.1654 p.E552Q 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 71 0 0.00 22 14 38.89 DNAH10 0 genome.wustl.edu 37 12 124416017 124416017 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 124416017 124416017 C G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.12560 p.T4187R 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 28 0 0.00 31 7 18.42 DNAH7 0 genome.wustl.edu 37 2 196681661 196681662 + Frame_Shift_Ins INS - - T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 196681661 196681662 - T INS DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_ins c.9452_9451 p.I3151fs 1.000:1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 30 0 0.00 17 4 19.05 DNAH8 0 genome.wustl.edu 37 6 38851126 38851126 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 38851126 38851126 C A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.7379 p.T2460N 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 DNAH8 HGNC ENSG00000124721 tier1 - - 109 0 0.00 85 20 19.05 DNAJB14 0 genome.wustl.edu 37 4 100829971 100829971 + Nonsense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 100829971 100829971 A T SNP DNAJB14 ENST00000442697 human ensembl 74_37 -1 known nonsense c.534 p.C178* 0.854 superfamily_DnaJ_domain,prints_DnaJ_domain pfam_DUF1977_DnaJ-like,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB14 HGNC ENSG00000164031 tier1 - - 84 0 0.00 39 12 23.53 DNAJC13 0 genome.wustl.edu 37 3 132213068 132213068 + Silent SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 132213068 132213068 T C SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known silent c.3906 p.A1302 0.995 pfam_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 tier1 - - 92 0 0.00 42 17 28.81 DNM1P47 0 genome.wustl.edu 37 15 102300094 102300094 + RNA SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 102300094 102300094 G T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 rs28459357 - 14 0 0.00 9 7 43.75 DNM1P47 0 genome.wustl.edu 37 15 102304498 102304498 + RNA SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 102304498 102304498 G A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.612 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 rs200682827 - 12 0 0.00 26 17 39.53 DPYSL5 0 genome.wustl.edu 37 2 27167581 27167581 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 27167581 27167581 G A SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.1498 p.V500M 0.998 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 tier1 - - 113 0 0.00 76 46 37.70 DYNC1I2 0 genome.wustl.edu 37 2 172584865 172584865 + Silent SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 172584865 172584865 G C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1194 p.L398 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 tier1 - - 17 0 0.00 13 30 69.77 ECE2 0 genome.wustl.edu 37 3 183994331 183994331 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 183994331 183994331 C T SNP ECE2 ENST00000404464 human ensembl 74_37 +1 known silent c.102 p.G34 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 tier1 - - 35 0 0.00 18 14 43.75 ENSG00000215398 0 genome.wustl.edu 37 14 19117107 19117107 + RNA SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 19117107 19117107 T G SNP ENSG00000215398 ENST00000553170 human ensembl 74_37 +1 known rna NULL NULL 0.127 - - - no_errors RP11-754I20.1 Clone_based_vega_gene ENSG00000215398 tier1 - - 36 0 0.00 20 4 16.67 ENSG00000227582 0 genome.wustl.edu 37 9 66517826 66517826 + RNA SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 66517826 66517826 T C SNP ENSG00000227582 ENST00000590130 human ensembl 74_37 -1 known rna NULL NULL 0.939 - - - no_errors RP11-262H14.7 Clone_based_vega_gene ENSG00000227582 tier1 - - 73 0 0.00 78 13 14.29 ENSG00000234719 0 genome.wustl.edu 37 16 12021561 12021561 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 12021561 12021561 G A SNP ENSG00000234719 ENST00000399147 human ensembl 74_37 -1 putative missense c.863 p.P288L 0.009 NULL NULL - no_errors RP11-166B2.1 Clone_based_vega_gene ENSG00000234719 tier1 - - 39 0 0.00 27 17 37.78 ENSG00000237768 0 genome.wustl.edu 37 10 74833653 74833653 + RNA SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 74833653 74833653 T C SNP ENSG00000237768 ENST00000431293 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-344N10.2 Clone_based_vega_gene ENSG00000237768 tier1 - - 21 0 0.00 3 7 70.00 ENSG00000249034 0 genome.wustl.edu 37 5 140242486 140242486 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 140242486 140242486 C T SNP ENSG00000249034 ENST00000502505 human ensembl 74_37 -1 known missense c.490 p.A164T 0.000 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 tier1 - - 19 0 0.00 13 6 31.58 EPHB6 0 genome.wustl.edu 37 7 142567977 142567977 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 142567977 142567977 C A SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.2618 p.A873E 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 tier1 - - 463 0 0.00 242 212 46.59 ESPNP 0 genome.wustl.edu 37 1 17013838 17013839 + RNA DEL TG TG - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 17013838 17013839 TG - DEL ESPNP ENST00000414828 human ensembl 74_37 -1 putative rna NULL NULL 1.000:1.000 - - - no_errors ESPNP HGNC ENSG00000268869 tier1 240 0 0.00 269 29 9.73 EYA4 0 genome.wustl.edu 37 6 133802608 133802608 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 133802608 133802608 C T SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known silent c.978 p.F326 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 tier1 - - 138 0 0.00 57 16 21.92 FAT3 0 genome.wustl.edu 37 11 92568067 92568067 + Nonsense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 92568067 92568067 T A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known nonsense c.9903 p.Y3301* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 20 0 0.00 7 7 50.00 FCGBP 0 genome.wustl.edu 37 19 40354319 40354319 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 40354319 40354319 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.16150 p.H5384Y 0.001 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 53 0 0.00 36 47 56.63 FIGN 0 genome.wustl.edu 37 2 164466844 164466844 + Nonsense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 164466844 164466844 C A SNP FIGN ENST00000333129 human ensembl 74_37 -1 known nonsense c.1498 p.E500* 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 - - 108 0 0.00 46 27 36.99 FOSL2 0 genome.wustl.edu 37 2 28631726 28631726 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 28631726 28631726 T G SNP FOSL2 ENST00000264716 human ensembl 74_37 +1 known missense c.455 p.L152R 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 20 0 0.00 20 3 13.04 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74835200 74835200 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 74835200 74835200 G C SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.1940 p.S647T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 - - 139 0 0.00 132 8 5.71 FRMD4A 0 genome.wustl.edu 37 10 13705453 13705453 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 13705453 13705453 C T SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known missense c.1660 p.E554K 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 tier1 - - 56 0 0.00 25 8 24.24 FRY 0 genome.wustl.edu 37 13 32731485 32731485 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 32731485 32731485 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.1727 p.R576K 0.994 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 tier1 - - 61 0 0.00 219 35 13.78 FZD4 0 genome.wustl.edu 37 11 86662203 86662203 + Frame_Shift_Del DEL C C - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 86662203 86662203 C - DEL FZD4 ENST00000531380 human ensembl 74_37 -1 known frame_shift_del c.1595 p.G532fs 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 tier1 160 0 0.00 107 29 21.32 GARNL3 0 genome.wustl.edu 37 9 130073920 130073920 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 130073920 130073920 A T SNP GARNL3 ENST00000429629 human ensembl 74_37 +1 known missense c.224 p.Q75L 0.724 NULL NULL - no_errors GARNL3 HGNC ENSG00000136895 tier1 - - 103 0 0.00 52 42 44.68 GBAP1 0 genome.wustl.edu 37 1 155184370 155184370 + RNA SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 155184370 155184370 G C SNP GBAP1 ENST00000368374 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors GBAP1 HGNC ENSG00000160766 tier1 - - 55 0 0.00 36 18 33.33 GCN1L1 0 genome.wustl.edu 37 12 120565739 120565739 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 120565739 120565739 G A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known silent c.7930 p.L2644 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 tier1 - - 86 0 0.00 72 13 15.29 GJD2 0 genome.wustl.edu 37 15 35045224 35045224 + Nonsense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 35045224 35045224 C A SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known nonsense c.421 p.E141* 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 tier1 - - 213 0 0.00 133 11 7.64 GNAS 0 genome.wustl.edu 37 20 57428722 57428722 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 57428722 57428722 C T SNP GNAS ENST00000306120 human ensembl 74_37 +1 putative missense c.212 p.S71L 0.000 NULL NULL - no_errors GNAS HGNC ENSG00000087460 tier1 - - 51 0 0.00 34 34 50.00 GP5 0 genome.wustl.edu 37 3 194118116 194118116 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 194118116 194118116 C T SNP GP5 ENST00000323007 human ensembl 74_37 -1 known missense c.896 p.R299H 0.001 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 tier1 - - 49 0 0.00 28 18 39.13 GRID2 0 genome.wustl.edu 37 4 94436443 94436443 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 94436443 94436443 C A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.2074 p.R692S 0.994 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 tier1 - - 45 0 0.00 14 23 62.16 GRIPAP1 0 genome.wustl.edu 37 X 48839419 48839420 + Frame_Shift_Del DEL CA CA - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 48839419 48839420 CA - DEL GRIPAP1 ENST00000376441 human ensembl 74_37 -1 known frame_shift_del c.1571_1570 p.W524fs 1.000:1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 tier1 37 0 0.00 5 4 44.44 GUK1 0 genome.wustl.edu 37 1 228333848 228333848 + RNA SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 228333848 228333848 C A SNP GUK1 ENST00000470040 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GUK1 HGNC ENSG00000143774 tier1 - - 31 0 0.00 14 17 54.84 GUK1 0 genome.wustl.edu 37 1 228336397 228336397 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 228336397 228336397 G A SNP GUK1 ENST00000366722 human ensembl 74_37 +1 known missense c.670 p.E224K 0.725 NULL pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase - no_errors GUK1 HGNC ENSG00000143774 tier1 - - 49 0 0.00 38 27 41.54 GYPE 0 genome.wustl.edu 37 4 144801641 144801641 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 144801641 144801641 G A SNP GYPE ENST00000358615 human ensembl 74_37 -1 known missense c.59 p.S20L 0.000 NULL NULL - no_errors GYPE HGNC ENSG00000197465 tier1 rs1071667 - 174 0 0.00 73 46 38.66 H2AFY2 0 genome.wustl.edu 37 10 71871328 71871328 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 71871328 71871328 C T SNP H2AFY2 ENST00000373255 human ensembl 74_37 +1 known silent c.1008 p.A336 1.000 pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 tier1 - - 119 0 0.00 101 18 15.13 HACE1 0 genome.wustl.edu 37 6 105198276 105198277 + Frame_Shift_Ins INS - - A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 105198276 105198277 - A INS HACE1 ENST00000262903 human ensembl 74_37 -1 known frame_shift_ins c.2283_2282 p.L761fs 1.000:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 tier1 40 0 0.00 13 6 31.58 HAGHL 0 genome.wustl.edu 37 16 777579 777579 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 777579 777579 G C SNP HAGHL ENST00000341413 human ensembl 74_37 +1 known missense c.70 p.E24Q 0.326 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors HAGHL HGNC ENSG00000103253 tier1 - - 37 0 0.00 7 18 72.00 HAND1 0 genome.wustl.edu 37 5 153855385 153855385 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 153855385 153855385 G A SNP HAND1 ENST00000231121 human ensembl 74_37 -1 known missense c.629 p.A210V 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HAND1 HGNC ENSG00000113196 tier1 - - 70 0 0.00 69 22 24.18 HEATR4 0 genome.wustl.edu 37 14 73959794 73959794 + Silent SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 73959794 73959794 A G SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known silent c.2820 p.V940 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 tier1 - - 129 0 0.00 79 51 39.23 HELQ 0 genome.wustl.edu 37 4 84347199 84347199 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 84347199 84347199 C T SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.2723 p.G908E 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 tier1 - - 169 0 0.00 50 60 54.55 HEPACAM2 0 genome.wustl.edu 37 7 92844979 92844979 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 92844979 92844979 C T SNP HEPACAM2 ENST00000394468 human ensembl 74_37 -1 known silent c.450 p.V150 0.584 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM2 HGNC ENSG00000188175 tier1 - - 58 0 0.00 48 8 14.29 HGF 0 genome.wustl.edu 37 7 81386587 81386587 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 81386587 81386587 G A SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.400 p.R134C 0.988 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 tier1 - - 60 0 0.00 51 10 16.39 HGF 0 genome.wustl.edu 37 7 81388061 81388061 + Nonsense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 81388061 81388061 G T SNP HGF ENST00000222390 human ensembl 74_37 -1 known nonsense c.314 p.S105* 1.000 pfam_PAN-1_domain,superfamily_Kringle-like,smart_Pan_app,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 tier1 - - 133 0 0.00 71 19 21.11 HIST1H2AL 0 genome.wustl.edu 37 6 27833306 27833306 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 27833306 27833306 C T SNP HIST1H2AL ENST00000357320 human ensembl 74_37 +1 known silent c.174 p.Y58 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AL HGNC ENSG00000198374 tier1 - - 160 0 0.00 202 13 6.05 HIST1H2AM 0 genome.wustl.edu 37 6 27860772 27860772 + Silent SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 27860772 27860772 C A SNP HIST1H2AM ENST00000359611 human ensembl 74_37 -1 known silent c.156 p.L52 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AM HGNC ENSG00000233224 tier1 - - 196 0 0.00 136 42 23.60 HIST1H3I 0 genome.wustl.edu 37 6 27839850 27839850 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 27839850 27839850 C G SNP HIST1H3I ENST00000328488 human ensembl 74_37 -1 known missense c.244 p.D82H 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3I HGNC ENSG00000182572 tier1 - - 158 0 0.00 126 50 28.25 HLA-B 0 genome.wustl.edu 37 6 31323183 31323183 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 31323183 31323183 G T SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.806 p.A269E 0.450 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 tier1 - - 71 0 0.00 53 52 49.52 HMCN1 0 genome.wustl.edu 37 1 186115038 186115038 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 186115038 186115038 A T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14591 p.N4864I 0.995 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 46 0 0.00 30 25 45.45 HNRNPA1P48 0 genome.wustl.edu 37 16 51679675 51679675 + RNA SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 51679675 51679675 G T SNP HNRNPA1P48 ENST00000562726 human ensembl 74_37 +1 known rna NULL NULL 0.812 - - - no_errors HNRNPA1P48 HGNC ENSG00000224578 tier1 - - 52 0 0.00 44 29 39.73 HPGDS 0 genome.wustl.edu 37 4 95239069 95239069 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 95239069 95239069 G C SNP HPGDS ENST00000295256 human ensembl 74_37 -1 known missense c.181 p.L61V 0.936 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors HPGDS HGNC ENSG00000163106 tier1 - - 58 0 0.00 29 4 12.12 HPS1 0 genome.wustl.edu 37 10 100182182 100182182 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 100182182 100182182 G C SNP HPS1 ENST00000325103 human ensembl 74_37 -1 known missense c.1687 p.Q563E 0.293 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 tier1 - - 162 0 0.00 67 22 24.72 HS6ST1 0 genome.wustl.edu 37 2 129075790 129075790 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 129075790 129075790 G A SNP HS6ST1 ENST00000259241 human ensembl 74_37 -1 known silent c.348 p.C116 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST1 HGNC ENSG00000136720 tier1 - - 14 0 0.00 11 8 42.11 HYDIN 0 genome.wustl.edu 37 16 70986378 70986378 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 70986378 70986378 G T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.6477 p.S2159R 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 38 0 0.00 17 15 46.88 INHBA 0 genome.wustl.edu 37 7 41739888 41739888 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 41739888 41739888 G A SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.85 p.H29Y 0.983 prints_Inhibin_betaA pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 tier1 - - 366 0 0.00 196 153 43.71 INHBE 0 genome.wustl.edu 37 12 57850718 57850718 + RNA SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 57850718 57850718 G T SNP INHBE ENST00000551553 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors INHBE HGNC ENSG00000139269 tier1 - - 22 0 0.00 10 20 66.67 INMT 0 genome.wustl.edu 37 7 30795287 30795287 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 30795287 30795287 C T SNP INMT ENST00000013222 human ensembl 74_37 +1 known silent c.612 p.Y204 0.999 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 tier1 - - 83 0 0.00 75 15 16.67 INTS7 0 genome.wustl.edu 37 1 212126028 212126028 + Silent SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 212126028 212126028 T C SNP INTS7 ENST00000440600 human ensembl 74_37 -1 known silent c.2052 p.G684 0.578 NULL superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 tier1 - - 52 0 0.00 28 24 46.15 KANK2 0 genome.wustl.edu 37 19 11303898 11303898 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 11303898 11303898 G A SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known silent c.858 p.A286 0.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 tier1 - - 36 0 0.00 19 30 61.22 KCNK7 0 genome.wustl.edu 37 11 65361273 65361273 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 65361273 65361273 G A SNP KCNK7 ENST00000340313 human ensembl 74_37 -1 known missense c.392 p.P131L 1.000 pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK - no_errors KCNK7 HGNC ENSG00000173338 tier1 - - 96 0 0.00 87 28 24.35 KCNT1 0 genome.wustl.edu 37 9 138606523 138606523 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 138606523 138606523 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.211 p.R71W 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 tier1 - - 31 0 0.00 12 23 65.71 KDR 0 genome.wustl.edu 37 4 55979607 55979607 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 55979607 55979607 C G SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.840 p.Q280H 0.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 tier1 - - 91 0 0.00 21 34 61.82 KIAA0101 0 genome.wustl.edu 37 15 64673156 64673156 + Splice_Site SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 64673156 64673156 C A SNP KIAA0101 ENST00000300035 human ensembl 74_37 -1 known splice_site c.127+1 e2+1 1.000 - - - no_errors KIAA0101 HGNC ENSG00000166803 tier1 - - 37 0 0.00 46 5 9.80 KIAA0232 0 genome.wustl.edu 37 4 6863629 6863629 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 6863629 6863629 C T SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.1520 p.T507M 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 tier1 - - 62 0 0.00 17 27 61.36 KIF24 0 genome.wustl.edu 37 9 34256522 34256522 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 34256522 34256522 G A SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known missense c.3083 p.A1028V 0.000 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 133 0 0.00 68 4 5.56 KIF26A 0 genome.wustl.edu 37 14 104643572 104643572 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 104643572 104643572 G A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.4447 p.G1483S 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 28 0 0.00 21 15 41.67 KLF17 0 genome.wustl.edu 37 1 44596265 44596265 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 44596265 44596265 T A SNP KLF17 ENST00000372299 human ensembl 74_37 +1 known missense c.1007 p.V336E 0.992 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF17 HGNC ENSG00000171872 tier1 - - 138 0 0.00 49 55 52.88 KLF5 0 genome.wustl.edu 37 13 73636262 73636262 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 73636262 73636262 G A SNP KLF5 ENST00000377687 human ensembl 74_37 +1 known silent c.525 p.T175 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC ENSG00000102554 tier1 - - 116 0 0.00 74 56 43.08 KMO 0 genome.wustl.edu 37 1 241749982 241749982 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 241749982 241749982 G T SNP KMO ENST00000366559 human ensembl 74_37 +1 known missense c.959 p.G320V 1.000 pfam_mOase_FAD-bd,prints_Rng_hydrolase-like pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 tier1 - - 91 0 0.00 36 32 47.06 KRT25 0 genome.wustl.edu 37 17 38911429 38911429 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 38911429 38911429 G A SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known missense c.95 p.T32I 0.768 NULL pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 tier1 - - 65 0 0.00 37 22 37.29 LIG3 0 genome.wustl.edu 37 17 33329025 33329025 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 33329025 33329025 G A SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known missense c.2576 p.G859D 0.006 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 tier1 - - 48 0 0.00 38 11 22.45 LILRB3 0 genome.wustl.edu 37 19 54746380 54746380 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 54746380 54746380 C T SNP LILRB3 ENST00000407860 human ensembl 74_37 -1 known missense c.61 p.V21M 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 tier1 rs150628522 - 16 0 0.00 13 5 27.78 LOC653786 0 genome.wustl.edu 37 16 22588087 22588087 + RNA SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 22588087 22588087 G A SNP LOC653786 ENST00000550753 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 tier1 - - 25 0 0.00 28 17 37.78 LPHN3 0 genome.wustl.edu 37 4 62599168 62599168 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 62599168 62599168 T A SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1295 p.I432N 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 tier1 - - 27 0 0.00 11 4 26.67 LRAT 0 genome.wustl.edu 37 4 155670188 155670188 + Nonsense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 155670188 155670188 C A SNP LRAT ENST00000336356 human ensembl 74_37 +1 known nonsense c.593 p.S198* 0.984 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 tier1 - - 135 0 0.00 57 55 49.11 LRIT2 0 genome.wustl.edu 37 10 85981827 85981827 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 85981827 85981827 A C SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.1532 p.L511R 0.053 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 tier1 - - 106 0 0.00 48 15 23.44 LRP12 0 genome.wustl.edu 37 8 105509379 105509379 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 105509379 105509379 A C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1344 p.S448R 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 tier1 - - 119 0 0.00 53 56 50.91 LRP1B 0 genome.wustl.edu 37 2 141747131 141747131 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 141747131 141747131 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2740 p.N914H 1.000 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_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 - - 106 0 0.00 32 46 58.97 LRP1B 0 genome.wustl.edu 37 2 141747165 141747165 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 141747165 141747165 T A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2706 p.R902S 0.997 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_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 - - 101 0 0.00 26 31 54.39 LRP5 0 genome.wustl.edu 37 11 68131241 68131241 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 68131241 68131241 C T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.713 p.T238M 0.985 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 tier1 - - 33 0 0.00 20 13 39.39 LRRK2 0 genome.wustl.edu 37 12 40672031 40672031 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 40672031 40672031 C G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2209 p.Q737E 0.966 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 184 0 0.00 54 52 48.60 LY75 0 genome.wustl.edu 37 2 160735848 160735848 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 160735848 160735848 C A SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.1437 p.E479D 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 tier1 - - 95 0 0.00 28 31 52.54 MAP2K7 0 genome.wustl.edu 37 19 7975587 7975587 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 7975587 7975587 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.700 p.V234I 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 MAP2K7 HGNC ENSG00000076984 tier1 - - 21 0 0.00 9 15 62.50 MAP3K19 0 genome.wustl.edu 37 2 135740901 135740901 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 135740901 135740901 C G SNP MAP3K19 ENST00000392915 human ensembl 74_37 -1 putative missense c.3274 p.V1092L 0.005 NULL NULL - no_errors MAP3K19 HGNC ENSG00000176601 tier1 - - 45 0 0.00 22 10 31.25 MAP3K5 0 genome.wustl.edu 37 6 136922971 136922971 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 136922971 136922971 G C SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.2826 p.S942R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 57 0 0.00 16 18 52.94 MAP3K7 0 genome.wustl.edu 37 6 91281445 91281445 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 91281445 91281445 C T SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known missense c.202 p.E68K 1.000 pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 tier1 - - 70 0 0.00 14 15 51.72 MAPKAPK2 0 genome.wustl.edu 37 1 206904980 206904980 + RNA SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 206904980 206904980 C T SNP MAPKAPK2 ENST00000479009 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 tier1 - - 153 0 0.00 61 54 46.96 MCM3AP 0 genome.wustl.edu 37 21 47703750 47703750 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 21 47703750 47703750 A G SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.1222 p.S408P 0.989 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 tier1 - - 75 0 0.00 70 23 24.47 MED18 0 genome.wustl.edu 37 1 28661374 28661374 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 28661374 28661374 G T SNP MED18 ENST00000373842 human ensembl 74_37 +1 known missense c.520 p.V174L 0.992 pfam_Mediator_Med18_met/fun pfam_Mediator_Med18_met/fun - no_errors MED18 HGNC ENSG00000130772 tier1 - - 106 0 0.00 119 17 12.50 MGA 0 genome.wustl.edu 37 15 42041423 42041423 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 42041423 42041423 C A SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.5618 p.S1873Y 0.972 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 58 0 0.00 24 21 45.65 MGC32805 0 genome.wustl.edu 37 5 121780487 121780487 + RNA SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 121780487 121780487 T C SNP MGC32805 ENST00000505546 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTC-210G5.1 Clone_based_vega_gene ENSG00000250328 tier1 - - 16 0 0.00 2 12 85.71 MTPAP 0 genome.wustl.edu 37 10 30638189 30638189 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 30638189 30638189 C G SNP MTPAP ENST00000263063 human ensembl 74_37 -1 known missense c.16 p.V6L 0.011 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 tier1 - - 62 0 0.00 22 19 46.34 MUC16 0 genome.wustl.edu 37 19 9084191 9084191 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 9084191 9084191 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7624 p.F2542V 0.543 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 50 0 0.00 42 28 40.00 MUC5B 0 genome.wustl.edu 37 11 1256378 1256378 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 1256378 1256378 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.2703 p.Y901 0.936 pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,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 tier1 - - 70 0 0.00 62 10 13.89 MYH3 0 genome.wustl.edu 37 17 10535024 10535024 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 10535024 10535024 C A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.5190 p.K1730N 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 54 0 0.00 5 21 80.77 NAV2-AS2 0 genome.wustl.edu 37 11 20065511 20065511 + RNA SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 20065511 20065511 G A SNP NAV2-AS2 ENST00000533767 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NAV2-AS2 HGNC ENSG00000254453 tier1 - - 79 0 0.00 54 39 41.94 NBEA 0 genome.wustl.edu 37 13 36241642 36241642 + Nonsense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 36241642 36241642 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known nonsense c.8533 p.R2845* 0.978 superfamily_WD40_repeat_dom 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 - - 183 0 0.00 382 55 12.59 NDST3 0 genome.wustl.edu 37 4 119145692 119145692 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 119145692 119145692 T G SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.1586 p.L529R 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 tier1 - - 114 0 0.00 36 52 59.09 NEBL 0 genome.wustl.edu 37 10 21108363 21108363 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 21108363 21108363 T A SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.2045 p.Q682L 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 tier1 - - 229 0 0.00 77 48 38.40 NFATC2 0 genome.wustl.edu 37 20 50049200 50049200 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 50049200 50049200 G A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.2126 p.P709L 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 tier1 - - 79 0 0.00 46 34 42.50 NLRP1 0 genome.wustl.edu 37 17 5421182 5421182 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 5421182 5421182 G C SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.3941 p.P1314R 0.748 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 tier1 - - 74 0 0.00 7 43 86.00 NOL4 0 genome.wustl.edu 37 18 31538354 31538354 + Missense_Mutation SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 18 31538354 31538354 T C SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known missense c.1085 p.D362G 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 tier1 - - 142 0 0.00 16 69 81.18 NOTCH2 0 genome.wustl.edu 37 1 120506347 120506347 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 120506347 120506347 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.1765 p.D589N 1.000 pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 tier1 - - 192 0 0.00 78 104 56.83 NOTCH2 0 genome.wustl.edu 37 1 120611990 120611990 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 120611990 120611990 C A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.31 p.A11S 0.998 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 tier1 - - 32 0 0.00 51 6 10.34 NPPB 0 genome.wustl.edu 37 1 11918445 11918445 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 11918445 11918445 G A SNP NPPB ENST00000376468 human ensembl 74_37 -1 known missense c.214 p.R72C 0.000 NULL pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_brain - no_errors NPPB HGNC ENSG00000120937 tier1 - - 65 0 0.00 95 11 10.38 NRK 0 genome.wustl.edu 37 X 105193681 105193681 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 105193681 105193681 T G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.4471 p.F1491V 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 tier1 - - 20 0 0.00 3 11 78.57 NRXN1 0 genome.wustl.edu 37 2 50464017 50464017 + Silent SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 50464017 50464017 C A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.3432 p.L1144 1.000 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 NRXN1 HGNC ENSG00000179915 tier1 - - 75 0 0.00 72 6 7.69 NUGGC 0 genome.wustl.edu 37 8 27925085 27925085 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 27925085 27925085 C T SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known silent c.657 p.A219 0.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 tier1 - - 17 0 0.00 12 4 25.00 NXPE1 0 genome.wustl.edu 37 11 114392868 114392868 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 114392868 114392868 C A SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.1466 p.R489M 0.004 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 tier1 - - 105 0 0.00 11 41 77.36 OGFOD2 0 genome.wustl.edu 37 12 123463020 123463020 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 123463020 123463020 C A SNP OGFOD2 ENST00000228922 human ensembl 74_37 +1 known missense c.435 p.F145L 0.962 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD2 HGNC ENSG00000111325 tier1 - - 73 0 0.00 47 53 53.00 OR10A2 0 genome.wustl.edu 37 11 6891832 6891832 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 6891832 6891832 G A SNP OR10A2 ENST00000307322 human ensembl 74_37 +1 known missense c.847 p.E283K 0.999 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A2 HGNC ENSG00000170790 tier1 - - 130 0 0.00 55 57 50.89 OR1D4 0 genome.wustl.edu 37 17 3144165 3144165 + RNA SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 3144165 3144165 C A SNP OR1D4 ENST00000531680 human ensembl 74_37 +1 known rna NULL NULL 0.658 - - - no_errors OR1D4 HGNC ENSG00000255095 tier1 - - 60 0 0.00 25 11 30.56 OR2T8 0 genome.wustl.edu 37 1 248085037 248085037 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 248085037 248085037 T G SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.718 p.S240A 0.096 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 tier1 - - 45 0 0.00 20 13 39.39 OR4A16 0 genome.wustl.edu 37 11 55111371 55111371 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 55111371 55111371 A G SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.695 p.H232R 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 tier1 rs12807769 - 95 0 0.00 62 9 12.68 OR5H1 0 genome.wustl.edu 37 3 97852255 97852255 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 97852255 97852255 T G SNP OR5H1 ENST00000354565 human ensembl 74_37 +1 known missense c.714 p.F238L 0.046 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 tier1 - - 111 0 0.00 53 18 25.35 OR6K6 0 genome.wustl.edu 37 1 158724722 158724722 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 158724722 158724722 G A SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known silent c.117 p.E39 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 tier1 - - 152 0 0.00 82 58 41.43 OSBPL3 0 genome.wustl.edu 37 7 24849541 24849541 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 24849541 24849541 C T SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known silent c.2202 p.E734 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 tier1 - - 231 0 0.00 100 67 40.12 OTOP3 0 genome.wustl.edu 37 17 72937853 72937853 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 72937853 72937853 C A SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.439 p.P147T 0.027 NULL pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 tier1 - - 58 0 0.00 47 15 24.19 OTOP3 0 genome.wustl.edu 37 17 72937851 72937851 + Frame_Shift_Del DEL G G - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 72937851 72937851 G 0 DEL OTOP3 ENST00000328801 human ensembl 74_37 +1 known frame_shift_del c.437 p.R146fs 0.001 NULL pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 63 0 0.00 47 15 24.19 OXA1L 0 genome.wustl.edu 37 14 23239055 23239055 + Frame_Shift_Del DEL G G - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 23239055 23239055 G - DEL OXA1L ENST00000285848 human ensembl 74_37 +1 known frame_shift_del c.675 p.A226fs 1.000 pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C - no_errors OXA1L HGNC ENSG00000155463 tier1 505 0 0.00 303 145 32.37 PAFAH1B1 0 genome.wustl.edu 37 17 2579883 2579883 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 2579883 2579883 A T SNP PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known missense c.985 p.M329L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 tier1 - - 98 0 0.00 36 4 10.00 PARP4 0 genome.wustl.edu 37 13 25000656 25000656 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 25000656 25000656 C G SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.4927 p.E1643Q 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 tier1 - - 63 0 0.00 47 35 42.68 PAX4 0 genome.wustl.edu 37 7 127252039 127252039 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 127252039 127252039 A T SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known missense c.707 p.L236Q 0.037 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 tier1 - - 48 0 0.00 29 6 17.14 PBRM1 0 genome.wustl.edu 37 3 52643942 52643943 + Frame_Shift_Ins INS - - T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 52643942 52643943 - T INS PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_ins c.1954_1953 p.S651fs 1.000:1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 116 0 0.00 84 20 19.23 PBRM1 0 genome.wustl.edu 37 3 52678784 52678784 + Frame_Shift_Del DEL T T - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 52678784 52678784 T - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.835 p.I279fs 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 21 0 0.00 8 8 50.00 PCDH15 0 genome.wustl.edu 37 10 55581852 55581852 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 55581852 55581852 T G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.5634 p.E1878D 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 239 0 0.00 85 56 39.72 PCDH17 0 genome.wustl.edu 37 13 58207849 58207849 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 58207849 58207849 G T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1169 p.R390L 0.979 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 26 0 0.00 4 13 76.47 PCDH19 0 genome.wustl.edu 37 X 99662960 99662960 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 99662960 99662960 G A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.636 p.D212 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 tier1 - - 78 0 0.00 61 43 41.35 PCDHA1 0 genome.wustl.edu 37 5 140167790 140167790 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 140167790 140167790 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1915 p.E639K 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 tier1 - - 151 0 0.00 74 81 52.26 PCDHA11 0 genome.wustl.edu 37 5 140250240 140250240 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 140250240 140250240 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1552 p.A518T 0.825 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 tier1 - - 192 0 0.00 176 60 25.42 PCDHGA3 0 genome.wustl.edu 37 5 140725721 140725721 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 140725721 140725721 C T SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.2121 p.F707 0.105 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 tier1 - - 187 0 0.00 186 18 8.74 PCGF1 0 genome.wustl.edu 37 2 74734166 74734167 + Splice_Site DEL CA CA - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 74734166 74734167 CA - DEL PCGF1 ENST00000233630 human ensembl 74_37 -1 known splice_site_del c.199+2_199+1 e2+2 1.000:1.000 - - - no_errors PCGF1 HGNC ENSG00000115289 tier1 44 0 0.00 32 21 39.62 PCSK2 0 genome.wustl.edu 37 20 17462414 17462414 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 17462414 17462414 G A SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known missense c.1616 p.R539H 1.000 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 tier1 - - 65 0 0.00 39 19 32.76 PDE6C 0 genome.wustl.edu 37 10 95422388 95422388 + Silent SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 95422388 95422388 T G SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known silent c.2355 p.T785 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 tier1 - - 27 0 0.00 9 7 43.75 PDS5B 0 genome.wustl.edu 37 13 33226081 33226081 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 33226081 33226081 C G SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.249 p.C83W 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 tier1 - - 169 0 0.00 1063 61 5.43 PEAK1 0 genome.wustl.edu 37 15 77473936 77473936 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 77473936 77473936 C G SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.333 p.L111F 0.952 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 tier1 - - 212 0 0.00 153 27 15.00 PHLPP2 0 genome.wustl.edu 37 16 71683148 71683148 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 71683148 71683148 C T SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known missense c.3617 p.R1206Q 1.000 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 tier1 - - 91 0 0.00 67 60 47.24 PIK3CD 0 genome.wustl.edu 37 1 9781570 9781570 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 9781570 9781570 G T SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.1952 p.C651F 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 tier1 - - 56 0 0.00 80 15 15.79 PIK3CG 0 genome.wustl.edu 37 7 106508552 106508552 + Silent SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 106508552 106508552 C A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known silent c.546 p.T182 0.010 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 tier1 - - 78 0 0.00 90 11 10.89 PIK3CG 0 genome.wustl.edu 37 7 106508565 106508565 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 106508565 106508565 G C SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.559 p.E187Q 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 tier1 - - 93 0 0.00 112 13 10.40 PON1 0 genome.wustl.edu 37 7 95023958 95023958 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 95023958 95023958 A C SNP PON1 ENST00000542556 human ensembl 74_37 -1 known missense c.143 p.L48R 0.806 prints_Arylesterase pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 tier1 - - 84 0 0.00 36 40 52.63 PPFIA2 0 genome.wustl.edu 37 12 81661791 81661791 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 81661791 81661791 A T SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.3386 p.I1129K 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 10 0 0.00 3 5 62.50 PPP1R16B 0 genome.wustl.edu 37 20 37536565 37536565 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 37536565 37536565 G A SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known missense c.1015 p.A339T 0.804 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 tier1 - - 54 0 0.00 40 28 41.18 PPP1R9A 0 genome.wustl.edu 37 7 94913575 94913575 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 94913575 94913575 C T SNP PPP1R9A ENST00000433360 human ensembl 74_37 +1 novel missense c.3542 p.P1181L 0.018 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 tier1 - - 17 0 0.00 14 4 22.22 PREX2 0 genome.wustl.edu 37 8 69011960 69011960 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 69011960 69011960 A C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2597 p.N866T 1.000 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 - - 129 0 0.00 42 45 51.72 PRICKLE1 0 genome.wustl.edu 37 12 42854155 42854155 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 42854155 42854155 G A SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.1952 p.P651L 0.999 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 tier1 - - 72 0 0.00 72 11 13.25 PRKAB1 0 genome.wustl.edu 37 12 120118183 120118183 + RNA SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 120118183 120118183 C T SNP PRKAB1 ENST00000537057 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRKAB1 HGNC ENSG00000111725 tier1 - - 26 0 0.00 12 5 29.41 PROKR2 0 genome.wustl.edu 37 20 5283178 5283178 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 5283178 5283178 C G SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.663 p.K221N 0.972 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 tier1 - - 110 0 0.00 84 6 6.67 PSD4 0 genome.wustl.edu 37 2 113941039 113941039 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 113941039 113941039 G T SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.1006 p.A336S 0.002 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 tier1 - - 80 0 0.00 44 24 35.29 PTPRF 0 genome.wustl.edu 37 1 44083409 44083409 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 44083409 44083409 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.4198 p.V1400I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 tier1 - - 76 0 0.00 23 32 58.18 PTPRT 0 genome.wustl.edu 37 20 40790170 40790170 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 40790170 40790170 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2561 p.R854H 0.991 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 tier1 - - 99 0 0.00 77 16 17.20 PTPRZ1 0 genome.wustl.edu 37 7 121695088 121695088 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 121695088 121695088 C G SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.6475 p.L2159V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 63 0 0.00 33 27 45.00 RAB11FIP1 0 genome.wustl.edu 37 8 37756945 37756945 + Silent SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 37756945 37756945 G C SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known silent c.15 p.V5 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 tier1 - - 47 0 0.00 198 32 13.85 RB1 0 genome.wustl.edu 37 13 48942706 48942706 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 48942706 48942706 G C SNP RB1 ENST00000267163 human ensembl 74_37 +1 known missense c.1093 p.E365Q 1.000 NULL pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 - - 78 0 0.00 33 106 76.26 RELN 0 genome.wustl.edu 37 7 103155638 103155638 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 103155638 103155638 T G SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.8113 p.T2705P 0.940 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 59 0 0.00 38 24 38.71 RETSAT 0 genome.wustl.edu 37 2 85571742 85571742 + Frame_Shift_Del DEL A A - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 85571742 85571742 A - DEL RETSAT ENST00000295802 human ensembl 74_37 -1 known frame_shift_del c.1231 p.Y411fs 1.000 NULL pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 tier1 69 0 0.00 81 19 19.00 RFX7 0 genome.wustl.edu 37 15 56535343 56535343 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 56535343 56535343 G C SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.141 p.H47Q 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 tier1 - - 26 0 0.00 12 4 25.00 RFXANK 0 genome.wustl.edu 37 19 19309966 19309966 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 19309966 19309966 G A SNP RFXANK ENST00000303088 human ensembl 74_37 +1 known missense c.635 p.R212Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors RFXANK HGNC ENSG00000064490 tier1 - - 92 0 0.00 55 29 34.12 RINT1 0 genome.wustl.edu 37 7 105190918 105190918 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 105190918 105190918 A T SNP RINT1 ENST00000257700 human ensembl 74_37 +1 known missense c.1318 p.T440S 1.000 pfam_RINT1_TIP1 pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 tier1 - - 138 0 0.00 94 65 40.88 RNF10 0 genome.wustl.edu 37 12 120992606 120992606 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 120992606 120992606 C A SNP RNF10 ENST00000413266 human ensembl 74_37 +1 known missense c.640 p.Q214K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 tier1 - - 150 0 0.00 97 36 27.07 RNF150 0 genome.wustl.edu 37 4 141832323 141832323 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 141832323 141832323 C A SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known missense c.1173 p.E391D 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 tier1 - - 90 0 0.00 29 44 60.27 RNF150 0 genome.wustl.edu 37 4 142053861 142053861 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 142053861 142053861 G A SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known silent c.102 p.A34 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 tier1 - - 78 0 0.00 41 14 25.45 RPL36A 0 genome.wustl.edu 37 X 100646541 100646541 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 100646541 100646541 T A SNP RPL36A ENST00000427805 human ensembl 74_37 +1 known missense c.206 p.L69Q 0.999 pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd - no_errors RPL36A HGNC ENSG00000241343 tier1 - - 64 0 0.00 5 67 93.06 RPS6KA2 0 genome.wustl.edu 37 6 166923827 166923827 + Nonsense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 166923827 166923827 G T SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known nonsense c.392 p.S131* 0.885 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 tier1 - - 67 0 0.00 46 13 22.03 RYR1 0 genome.wustl.edu 37 19 38946111 38946111 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 38946111 38946111 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.1597 p.R533C 1.000 pfam_Ca-rel_channel 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 rs193922768 - 90 0 0.00 97 8 7.62 SASS6 0 genome.wustl.edu 37 1 100575937 100575937 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 100575937 100575937 C G SNP SASS6 ENST00000287482 human ensembl 74_37 -1 known missense c.772 p.E258Q 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 tier1 - - 65 0 0.00 32 9 21.95 SCAF11 0 genome.wustl.edu 37 12 46345486 46345486 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 46345486 46345486 G A SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.244 p.R82C 1.000 pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 tier1 - - 85 0 0.00 42 22 34.38 SCARA5 0 genome.wustl.edu 37 8 27762304 27762304 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 27762304 27762304 C T SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known missense c.1144 p.G382R 0.057 NULL pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 tier1 - - 38 0 0.00 3 13 81.25 SCN11A 0 genome.wustl.edu 37 3 38913164 38913164 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 38913164 38913164 G A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.3531 p.A1177 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 - - 57 0 0.00 33 20 37.74 SCO2 0 genome.wustl.edu 37 22 50962655 50962655 + Silent SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 50962655 50962655 C A SNP SCO2 ENST00000252785 human ensembl 74_37 -1 known silent c.186 p.L62 0.001 pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO2 HGNC ENSG00000130489 tier1 rs28450572 - 115 0 0.00 123 7 5.38 SDAD1P1 0 genome.wustl.edu 37 8 26237947 26237947 + RNA SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 26237947 26237947 G A SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors SDAD1P1 HGNC ENSG00000228451 tier1 - - 56 0 0.00 14 9 39.13 SDK1 0 genome.wustl.edu 37 7 4277373 4277373 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 4277373 4277373 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.6087 p.L2029 0.981 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 114 0 0.00 86 53 38.13 SEC14L5 0 genome.wustl.edu 37 16 5046920 5046920 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 5046920 5046920 G A SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known missense c.845 p.R282Q 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 tier1 - - 35 0 0.00 23 67 74.44 SEC23A 0 genome.wustl.edu 37 14 39512065 39512067 + In_Frame_Del DEL AAG AAG - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 39512065 39512067 AAG - DEL SEC23A ENST00000307712 human ensembl 74_37 -1 known in_frame_del c.1911_1909 p.L637in_frame_del 1.000:1.000:1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 tier1 86 0 0.00 52 26 33.33 SEC61A2 0 genome.wustl.edu 37 10 12199937 12199937 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 12199937 12199937 G A SNP SEC61A2 ENST00000298428 human ensembl 74_37 +1 known missense c.808 p.A270T 1.000 pfam_SecY/SEC61-alpha,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha pfam_SecY/SEC61-alpha,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY/SEC61-alpha,tigrfam_SecY/SEC61-alpha - no_errors SEC61A2 HGNC ENSG00000065665 79 0 0.00 38 4 9.52 SEL1L3 0 genome.wustl.edu 37 4 25789889 25789892 + Frame_Shift_Del DEL TCCG TCCG - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 TCCG TCCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 25789889 25789892 TCCG 0 DEL SEL1L3 ENST00000399878 human ensembl 74_37 -1 known frame_shift_del c.2174_2171 p.T724fs 1.000:0.997:0.004:0.976 smart_Sel1-like pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 180 0 0.00 149 14 8.59 SEPT4 0 genome.wustl.edu 37 17 56598633 56598633 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 56598633 56598633 G A SNP SEPT4 ENST00000457347 human ensembl 74_37 -1 known missense c.1141 p.P381S 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT4 HGNC ENSG00000108387 tier1 - - 106 0 0.00 63 48 43.24 SETD1A 0 genome.wustl.edu 37 16 30990652 30990652 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 30990652 30990652 C G SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.3545 p.P1182R 0.924 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 tier1 - - 74 0 0.00 75 45 37.19 SF3A1 0 genome.wustl.edu 37 22 30736792 30736792 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 30736792 30736792 C T SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known missense c.1081 p.D361N 1.000 pfam_PRP21-like pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 tier1 - - 118 0 0.00 63 53 45.69 SGCZ 0 genome.wustl.edu 37 8 13948096 13948096 + Silent SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 13948096 13948096 G T SNP SGCZ ENST00000382080 human ensembl 74_37 -1 known silent c.795 p.S265 0.601 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 tier1 - - 85 0 0.00 37 18 32.73 SLA2 0 genome.wustl.edu 37 20 35262936 35262936 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 35262936 35262936 C T SNP SLA2 ENST00000262866 human ensembl 74_37 -1 known missense c.148 p.E50K 0.292 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain 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 tier1 - - 56 0 0.00 48 36 42.86 SLC10A1 0 genome.wustl.edu 37 14 70263537 70263537 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 70263537 70263537 C T SNP SLC10A1 ENST00000216540 human ensembl 74_37 -1 known missense c.336 p.M112I 0.061 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A1 HGNC ENSG00000100652 tier1 - - 28 0 0.00 22 19 46.34 SLC22A18 0 genome.wustl.edu 37 11 2924580 2924580 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 2924580 2924580 A T SNP SLC22A18 ENST00000312221 human ensembl 74_37 +1 known missense c.5 p.Q2L 0.634 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC22A18 HGNC ENSG00000110628 tier1 - - 129 0 0.00 94 25 21.01 SLC39A5 0 genome.wustl.edu 37 12 56629423 56629423 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 56629423 56629423 T A SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known missense c.884 p.L295H 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 tier1 - - 317 0 0.00 115 215 64.95 SLC8A1 0 genome.wustl.edu 37 2 40656004 40656004 + Nonsense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 40656004 40656004 T A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known nonsense c.1417 p.K473* 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 tier1 - - 73 0 0.00 44 13 22.81 SLCO1B3 0 genome.wustl.edu 37 12 20968679 20968679 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 20968679 20968679 C A SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.7 p.Q3K 0.064 superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 69 0 0.00 16 8 33.33 SLITRK5 0 genome.wustl.edu 37 13 88328417 88328417 + Silent SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 88328417 88328417 G C SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.774 p.L258 0.997 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 186 0 0.00 83 12 12.63 SMARCB1 0 genome.wustl.edu 37 22 24129419 24129419 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 24129419 24129419 C A SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known missense c.63 p.D21E 0.995 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 tier1 - - 118 0 0.00 96 14 12.73 SMARCE1 0 genome.wustl.edu 37 17 38801842 38801842 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 38801842 38801842 G A SNP SMARCE1 ENST00000348513 human ensembl 74_37 -1 known missense c.37 p.P13S 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SMARCE1 HGNC ENSG00000073584 23 0 0.00 30 4 11.76 SMCHD1 0 genome.wustl.edu 37 18 2707876 2707876 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 18 2707876 2707876 G C SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known missense c.2218 p.G740R 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 tier1 - - 25 0 0.00 12 6 33.33 SMEK2 0 genome.wustl.edu 37 2 55806900 55806900 + Silent SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 55806900 55806900 T C SNP SMEK2 ENST00000272313 human ensembl 74_37 -1 known silent c.1383 p.E461 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 tier1 - - 32 0 0.00 15 16 50.00 SMYD3 0 genome.wustl.edu 37 1 245912810 245912810 + RNA SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 245912810 245912810 C A SNP SMYD3 ENST00000366517 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SMYD3 HGNC ENSG00000185420 tier1 - - 19 0 0.00 12 13 52.00 SORBS1 0 genome.wustl.edu 37 10 97131761 97131761 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 97131761 97131761 G A SNP SORBS1 ENST00000361941 human ensembl 74_37 -1 known missense c.1783 p.L595F 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 tier1 - - 60 0 0.00 35 4 10.26 SOX7 0 genome.wustl.edu 37 8 10584032 10584032 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 10584032 10584032 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.539 p.R180H 1.000 NULL pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 tier1 - - 74 0 0.00 6 40 86.96 SPATA31D5P 0 genome.wustl.edu 37 9 84531399 84531399 + RNA SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 84531399 84531399 G C SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 tier1 - - 10 0 0.00 2 4 66.67 SPOCD1 0 genome.wustl.edu 37 1 32279770 32279770 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 32279770 32279770 T A SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.1165 p.S389C 0.011 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 24 0 0.00 38 4 9.52 SPRY3 0 genome.wustl.edu 37 X 155003813 155003813 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 155003813 155003813 G A SNP SPRY3 ENST00000302805 human ensembl 74_37 +1 known missense c.280 p.A94T 0.983 NULL pfam_Sprouty - no_errors SPRY3 HGNC ENSG00000168939 tier1 - - 171 0 0.00 58 28 32.56 SPRYD4 0 genome.wustl.edu 37 12 56862392 56862392 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 56862392 56862392 C A SNP SPRYD4 ENST00000338146 human ensembl 74_37 +1 known missense c.17 p.A6E 0.037 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors SPRYD4 HGNC ENSG00000176422 tier1 - - 226 0 0.00 96 121 55.76 SRBD1 0 genome.wustl.edu 37 2 45826841 45826841 + Frame_Shift_Del DEL T T - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 45826841 45826841 T - DEL SRBD1 ENST00000263736 human ensembl 74_37 -1 known frame_shift_del c.395 p.K132fs 0.969 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 tier1 246 0 0.00 194 18 8.49 SRCAP 0 genome.wustl.edu 37 16 30740816 30740816 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 30740816 30740816 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.6050 p.R2017Q 1.000 superfamily_P-loop_NTPase 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 - - 154 0 0.00 186 79 29.70 SRMS 0 genome.wustl.edu 37 20 62173618 62173618 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 62173618 62173618 G A SNP SRMS ENST00000217188 human ensembl 74_37 -1 known missense c.844 p.H282Y 0.999 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC ENSG00000125508 tier1 - - 71 0 0.00 31 25 44.64 SRSF5 0 genome.wustl.edu 37 14 70235366 70235366 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 70235366 70235366 G C SNP SRSF5 ENST00000451983 human ensembl 74_37 +1 known missense c.172 p.D58H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 tier1 - - 169 0 0.00 87 53 37.32 ST6GALNAC5 0 genome.wustl.edu 37 1 77334182 77334182 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 77334182 77334182 C T SNP ST6GALNAC5 ENST00000477717 human ensembl 74_37 +1 known missense c.16 p.R6C 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 tier1 - - 82 0 0.00 36 34 48.57 ST8SIA6 0 genome.wustl.edu 37 10 17362929 17362929 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 17362929 17362929 A T SNP ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known missense c.1145 p.L382H 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 tier1 - - 242 0 0.00 51 50 49.50 STAB1 0 genome.wustl.edu 37 3 52550590 52550590 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 52550590 52550590 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.4273 p.D1425N 0.773 smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 tier1 rs201873495 - 100 0 0.00 65 24 26.67 STAG2 0 genome.wustl.edu 37 X 123220423 123220423 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 123220423 123220423 C A SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known missense c.3080 p.T1027N 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 tier1 - - 51 0 0.00 47 10 17.54 STARD8 0 genome.wustl.edu 37 X 67936225 67936225 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 67936225 67936225 G C SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.249 p.L83F 0.991 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 tier1 - - 29 0 0.00 3 21 87.50 STT3A 0 genome.wustl.edu 37 11 125472244 125472244 + Missense_Mutation SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 125472244 125472244 T C SNP STT3A ENST00000392708 human ensembl 74_37 +1 known missense c.196 p.Y66H 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 tier1 - - 50 0 0.00 16 8 33.33 SUPT3H 0 genome.wustl.edu 37 6 44921156 44921156 + Splice_Site SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 44921156 44921156 T C SNP SUPT3H ENST00000371460 human ensembl 74_37 -1 known splice_site c.727-2 e9-2 1.000 - - - no_errors SUPT3H HGNC ENSG00000196284 tier1 - - 47 0 0.00 35 14 28.57 SWAP70 0 genome.wustl.edu 37 11 9749681 9749681 + Missense_Mutation SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 9749681 9749681 T C SNP SWAP70 ENST00000318950 human ensembl 74_37 +1 known missense c.724 p.Y242H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC ENSG00000133789 tier1 - - 151 0 0.00 89 28 23.93 TAAR2 0 genome.wustl.edu 37 6 132938390 132938390 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 132938390 132938390 A G SNP TAAR2 ENST00000367931 human ensembl 74_37 -1 known missense c.955 p.Y319H 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR2 HGNC ENSG00000146378 tier1 - - 52 0 0.00 10 16 61.54 TAF1 0 genome.wustl.edu 37 X 70627998 70627998 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 70627998 70627998 A G SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.4378 p.N1460D 1.000 pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 tier1 - - 30 0 0.00 2 41 95.35 TAF4 0 genome.wustl.edu 37 20 60585200 60585200 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 60585200 60585200 C T SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known missense c.1663 p.A555T 0.639 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 tier1 - - 91 0 0.00 66 44 40.00 TBC1D3P2 0 genome.wustl.edu 37 17 60349837 60349837 + RNA SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 60349837 60349837 C A SNP TBC1D3P2 ENST00000339120 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 tier1 - - 35 0 0.00 23 18 43.90 TBP 0 genome.wustl.edu 37 6 170871016 170871016 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 170871016 170871016 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.192 p.Q64 1.000 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 tier1 - - 83 0 0.00 113 6 5.00 TCTEX1D2 0 genome.wustl.edu 37 3 196022894 196022894 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 196022894 196022894 G A SNP TCTEX1D2 ENST00000325318 human ensembl 74_37 -1 known missense c.364 p.H122Y 0.989 pfam_Tctex pfam_Tctex - no_errors TCTEX1D2 HGNC ENSG00000213123 tier1 - - 92 0 0.00 58 29 33.33 TECRL 0 genome.wustl.edu 37 4 65170950 65170950 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 65170950 65170950 C A SNP TECRL ENST00000381210 human ensembl 74_37 -1 known missense c.664 p.A222S 1.000 pfam_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 tier1 - - 90 0 0.00 46 9 16.36 TECRL 0 genome.wustl.edu 37 4 65240924 65240924 + Silent SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 65240924 65240924 A T SNP TECRL ENST00000381210 human ensembl 74_37 -1 known silent c.252 p.T84 0.998 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 tier1 - - 9 0 0.00 1 5 83.33 TECTA 0 genome.wustl.edu 37 11 121028610 121028610 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 121028610 121028610 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.4366 p.V1456M 1.000 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 98 0 0.00 9 61 87.14 TGM5 0 genome.wustl.edu 37 15 43552729 43552729 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 43552729 43552729 C T SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.59 p.R20Q 0.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 tier1 - - 167 0 0.00 102 47 31.54 THRAP3 0 genome.wustl.edu 37 1 36767274 36767274 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 36767274 36767274 C A SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known missense c.2623 p.P875T 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 tier1 - - 50 0 0.00 17 51 75.00 TIAM1 0 genome.wustl.edu 37 21 32598200 32598200 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 21 32598200 32598200 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.1651 p.A551T 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 113 0 0.00 45 16 26.23 TLL1 0 genome.wustl.edu 37 4 166960520 166960520 + Silent SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 166960520 166960520 A C SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.1188 p.L396 0.002 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 tier1 - - 45 0 0.00 13 23 63.89 TM9SF1 0 genome.wustl.edu 37 14 24662101 24662101 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 24662101 24662101 G A SNP TM9SF1 ENST00000556387 human ensembl 74_37 -1 known silent c.1347 p.I449 1.000 pfam_EMP70 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 tier1 - - 59 0 0.00 45 8 15.09 TMEM132B 0 genome.wustl.edu 37 12 126138241 126138241 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 126138241 126138241 T G SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.2222 p.L741R 0.906 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 tier1 - - 143 0 0.00 67 68 50.37 TPBG 0 genome.wustl.edu 37 6 83075015 83075015 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 83075015 83075015 C T SNP TPBG ENST00000369750 human ensembl 74_37 +1 known missense c.337 p.R113C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors TPBG HGNC ENSG00000146242 tier1 - - 45 0 0.00 13 18 58.06 TRAPPC9 0 genome.wustl.edu 37 8 141293997 141293997 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 141293997 141293997 G A SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.2399 p.S800F 0.986 pfam_TRAPP_II_complex_Trs120 pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 tier1 - - 90 0 0.00 66 48 42.11 TRIM54 0 genome.wustl.edu 37 2 27528559 27528559 + Silent SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 27528559 27528559 A G SNP TRIM54 ENST00000296098 human ensembl 74_37 +1 known silent c.843 p.Q281 1.000 superfamily_Chorismate_mutase_type_II pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC ENSG00000138100 tier1 - - 18 0 0.00 16 11 40.74 TRPC4 0 genome.wustl.edu 37 13 38320579 38320579 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 38320579 38320579 A T SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.392 p.L131H 0.999 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 tier1 - - 143 0 0.00 194 47 19.50 TTC14 0 genome.wustl.edu 37 3 180322061 180322061 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 180322061 180322061 C A SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known missense c.535 p.P179T 1.000 superfamily_NA-bd_OB-fold,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 tier1 - - 89 0 0.00 72 15 17.24 TTN 0 genome.wustl.edu 37 2 179583310 179583310 + Nonsense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 179583310 179583310 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.20791 p.K6931* 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,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 - - 47 0 0.00 32 32 50.00 TYK2 0 genome.wustl.edu 37 19 10477093 10477093 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 10477093 10477093 C A SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known missense c.629 p.S210I 1.000 superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 tier1 - - 72 0 0.00 17 37 68.52 UBA2 0 genome.wustl.edu 37 19 34957880 34957880 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 34957880 34957880 A T SNP UBA2 ENST00000246548 human ensembl 74_37 +1 known missense c.1702 p.N568Y 1.000 NULL pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 tier1 - - 36 0 0.00 37 34 47.89 UBA6 0 genome.wustl.edu 37 4 68499962 68499962 + Nonsense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 68499962 68499962 G A SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known nonsense c.2011 p.Q671* 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 tier1 - - 47 0 0.00 19 10 34.48 UBE2G2 0 genome.wustl.edu 37 21 46191155 46191156 + RNA INS - - A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 21 46191155 46191156 - A INS UBE2G2 ENST00000477954 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors UBE2G2 HGNC ENSG00000184787 tier1 14 0 0.00 7 2 22.22 UBQLNL 0 genome.wustl.edu 37 11 5536703 5536703 + Silent SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 5536703 5536703 G T SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative silent c.969 p.L323 0.663 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 tier1 - - 91 0 0.00 50 45 47.37 UBR4 0 genome.wustl.edu 37 1 19500015 19500015 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 19500015 19500015 G C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.3083 p.P1028R 0.998 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 47 0 0.00 14 44 75.86 USH2A 0 genome.wustl.edu 37 1 216363678 216363678 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 216363678 216363678 G C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.4283 p.S1428C 0.003 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 86 0 0.00 25 32 56.14 VIPR2 0 genome.wustl.edu 37 7 158826913 158826913 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 158826913 158826913 G A SNP VIPR2 ENST00000262178 human ensembl 74_37 -1 known missense c.962 p.S321F 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR2 HGNC ENSG00000106018 tier1 - - 62 0 0.00 54 14 20.59 VPS13A-AS1 0 genome.wustl.edu 37 9 79792729 79792731 + RNA DEL GCC GCC - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 79792729 79792731 GCC - DEL VPS13A-AS1 ENST00000415172 human ensembl 74_37 -1 known rna NULL NULL 0.341:0.201:0.137 - - - no_errors VPS13A-AS1 HGNC ENSG00000232998 tier1 23 0 0.00 34 3 8.11 VPS13B 0 genome.wustl.edu 37 8 100523647 100523647 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 100523647 100523647 C G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.4615 p.L1539V 0.530 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 36 0 0.00 30 8 21.05 WNT5A 0 genome.wustl.edu 37 3 55504457 55504457 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 55504457 55504457 T G SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known missense c.806 p.K269T 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 tier1 - - 26 0 0.00 7 12 63.16 YY2 0 genome.wustl.edu 37 X 21874728 21874728 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 21874728 21874728 C T SNP YY2 ENST00000429584 human ensembl 74_37 +1 known silent c.126 p.Y42 0.012 pirsf_TF_Yin_yang smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY2 HGNC ENSG00000230797 tier1 - - 79 0 0.00 8 51 86.44 ZBTB20 0 genome.wustl.edu 37 3 114070238 114070238 + Silent SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 114070238 114070238 C A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known silent c.687 p.S229 0.109 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 tier1 - - 101 0 0.00 38 57 60.00 ZBTB48 0 genome.wustl.edu 37 1 6642126 6642126 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 6642126 6642126 G A SNP ZBTB48 ENST00000377674 human ensembl 74_37 +1 known silent c.699 p.V233 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 tier1 - - 87 0 0.00 99 19 16.10 ZCCHC11 0 genome.wustl.edu 37 1 52962853 52962853 + Silent SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 52962853 52962853 T C SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known silent c.1002 p.E334 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 tier1 - - 16 0 0.00 16 6 27.27 ZDBF2 0 genome.wustl.edu 37 2 207170956 207170956 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 207170956 207170956 C T SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.1704 p.T568 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 - - 35 0 0.00 19 34 64.15 ZNF385D 0 genome.wustl.edu 37 3 21606135 21606135 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 21606135 21606135 C T SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known silent c.207 p.G69 0.977 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 tier1 - - 90 0 0.00 57 7 10.94 ZNF415 0 genome.wustl.edu 37 19 53619674 53619674 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 53619674 53619674 C T SNP ZNF415 ENST00000243643 human ensembl 74_37 -1 known missense c.28 p.D10N 0.132 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF415 HGNC ENSG00000170954 tier1 - - 100 0 0.00 48 12 20.00 ZNF570 0 genome.wustl.edu 37 19 37966832 37966832 + Nonsense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 37966832 37966832 G A SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known nonsense c.83 p.W28* 0.996 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 tier1 - - 111 0 0.00 269 18 6.27 ZNF675 0 genome.wustl.edu 37 19 23837268 23837268 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 23837268 23837268 A T SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known missense c.467 p.F156Y 0.000 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 ZNF675 HGNC ENSG00000197372 tier1 - - 31 0 0.00 12 10 45.45 ZNF677 0 genome.wustl.edu 37 19 53740302 53740302 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 53740302 53740302 C A SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.1678 p.D560Y 0.000 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 ZNF677 HGNC ENSG00000197928 tier1 - - 39 0 0.00 11 10 47.62 ZNF780B 0 genome.wustl.edu 37 19 40541163 40541163 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 40541163 40541163 C T SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known missense c.1603 p.G535R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780B HGNC ENSG00000128000 tier1 - - 83 0 0.00 112 12 9.68 ZNF835 0 genome.wustl.edu 37 19 57176313 57176313 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 57176313 57176313 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.254 p.A85V 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 tier1 - - 48 0 0.00 29 13 30.95 ZSCAN4 0 genome.wustl.edu 37 19 58187715 58187715 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 58187715 58187715 A G SNP ZSCAN4 ENST00000318203 human ensembl 74_37 +1 known missense c.202 p.I68V 0.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC ENSG00000180532 tier1 - - 108 0 0.00 57 22 27.50 SASS6 0 genome.wustl.edu 37 1 100575937 100575937 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 100575937 100575937 C G SNP SASS6 ENST00000287482 human ensembl 74_37 -1 known missense c.772 p.E258Q 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 60 0 0 32 8 20 NPPB 0 genome.wustl.edu 37 1 11918445 11918445 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 11918445 11918445 G A SNP NPPB ENST00000376468 human ensembl 74_37 -1 known missense c.214 p.R72C 0.000 NULL pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_brain - no_errors NPPB HGNC ENSG00000120937 58 0 0 82 11 11.828 NOTCH2 0 genome.wustl.edu 37 1 120506347 120506347 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 120506347 120506347 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.1765 p.D589N 1.000 pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 165 0 0 68 92 57.5 NOTCH2 0 genome.wustl.edu 37 1 120611990 120611990 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 120611990 120611990 C A SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known missense c.31 p.A11S 0.998 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 30 0 0 41 5 10.8696 GBAP1 0 genome.wustl.edu 37 1 155184370 155184370 + RNA SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 155184370 155184370 G C SNP GBAP1 ENST00000368374 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors GBAP1 HGNC ENSG00000160766 49 0 0 34 16 32 LY9 0 genome.wustl.edu 37 1 160784515 160784515 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 160784515 160784515 G A SNP LY9 ENST00000263285 human ensembl 74_37 +1 known missense c.1036 p.V346I 0.026 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors LY9 HGNC ENSG00000122224 27 0 0 28 4 12.5 HMCN1 0 genome.wustl.edu 37 1 186115038 186115038 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 186115038 186115038 A T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14591 p.N4864I 0.995 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 38 0 0 29 22 43.1373 UBR4 0 genome.wustl.edu 37 1 19500015 19500015 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 19500015 19500015 G C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.3083 p.P1028R 0.998 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 45 0 0 12 42 77.7778 CFH 0 genome.wustl.edu 37 1 196694302 196694302 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 196694302 196694302 A G SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.1748 p.K583R 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 CFH HGNC ENSG00000000971 50 0 0 25 24 48.9796 ATP2B4 0 genome.wustl.edu 37 1 203672793 203672793 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 203672793 203672793 C T SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known silent c.951 p.D317 0.997 pfam_ATPase_P-typ_transduc_dom_A pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 138 0 0 72 54 42.8571 CR1L 0 genome.wustl.edu 37 1 207870865 207870865 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 207870865 207870865 G T SNP CR1L ENST00000508064 human ensembl 74_37 +1 known missense c.880 p.D294Y 0.003 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 CR1L HGNC ENSG00000197721 145 0 0 135 93 40.7895 INTS7 0 genome.wustl.edu 37 1 212126028 212126028 + Silent SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 212126028 212126028 T C SNP INTS7 ENST00000440600 human ensembl 74_37 -1 known silent c.2052 p.G684 0.578 NULL superfamily_ARM-type_fold - no_errors INTS7 HGNC ENSG00000143493 45 0 0 25 21 45.6522 SMYD2 0 genome.wustl.edu 37 1 214507595 214507595 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 214507595 214507595 G A SNP SMYD2 ENST00000366957 human ensembl 74_37 +1 known missense c.1165 p.G389R 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD2 HGNC ENSG00000143499 135 1 0.735294 112 27 19.4245 USH2A 0 genome.wustl.edu 37 1 216363678 216363678 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 216363678 216363678 G C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.4283 p.S1428C 0.003 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 74 0 0 23 29 55.7692 BPNT1 0 genome.wustl.edu 37 1 220236218 220236218 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 220236218 220236218 C T SNP BPNT1 ENST00000322067 human ensembl 74_37 -1 known missense c.553 p.V185I 0.997 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors BPNT1 HGNC ENSG00000162813 75 0 0 61 14 18.6667 C1orf65 0 genome.wustl.edu 37 1 223567977 223567977 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 223567977 223567977 G T SNP C1orf65 ENST00000366875 human ensembl 74_37 +1 known missense c.1160 p.R387L 0.000 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 41 0 0 24 4 14.2857 GUK1 0 genome.wustl.edu 37 1 228336397 228336397 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 228336397 228336397 G A SNP GUK1 ENST00000366722 human ensembl 74_37 +1 known missense c.670 p.E224K 0.725 NULL pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase - no_errors GUK1 HGNC ENSG00000143774 43 0 0 33 23 41.0714 AGT 0 genome.wustl.edu 37 1 230838970 230838970 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 230838970 230838970 G C SNP AGT ENST00000366667 human ensembl 74_37 -1 known missense c.1375 p.P459A 0.529 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen - no_errors AGT HGNC ENSG00000135744 119 0 0 61 55 47.4138 ARID4B 0 genome.wustl.edu 37 1 235345769 235345769 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 235345769 235345769 C T SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.2465 p.R822H 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 78 0 0 46 31 40.2597 KMO 0 genome.wustl.edu 37 1 241749982 241749982 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 241749982 241749982 G T SNP KMO ENST00000366559 human ensembl 74_37 +1 known missense c.959 p.G320V 1.000 pfam_mOase_FAD-bd,prints_Rng_hydrolase-like pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 84 0 0 32 31 49.2063 MED18 0 genome.wustl.edu 37 1 28661374 28661374 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 28661374 28661374 G T SNP MED18 ENST00000373842 human ensembl 74_37 +1 known missense c.520 p.V174L 0.992 pfam_Mediator_Med18_met/fun pfam_Mediator_Med18_met/fun - no_errors MED18 HGNC ENSG00000130772 99 0 0 108 15 12.1951 CSMD2 0 genome.wustl.edu 37 1 33990533 33990533 + Nonsense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 33990533 33990533 T A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known nonsense c.10345 p.K3449* 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 111 0 0 33 100 75.188 THRAP3 0 genome.wustl.edu 37 1 36767274 36767274 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 36767274 36767274 C A SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known missense c.2623 p.P875T 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 48 0 0 16 46 74.1935 CAP1 0 genome.wustl.edu 37 1 40536154 40536154 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 40536154 40536154 G C SNP CAP1 ENST00000372792 human ensembl 74_37 +1 known missense c.1170 p.E390D 1.000 pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 75 0 0 27 18 40 PTPRF 0 genome.wustl.edu 37 1 44083409 44083409 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 44083409 44083409 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.4198 p.V1400I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 73 0 0 21 27 56.25 KLF17 0 genome.wustl.edu 37 1 44596265 44596265 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 44596265 44596265 T A SNP KLF17 ENST00000372299 human ensembl 74_37 +1 known missense c.1007 p.V336E 0.992 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF17 HGNC ENSG00000171872 129 0 0 47 52 52.5253 ZCCHC11 0 genome.wustl.edu 37 1 52962853 52962853 + Silent SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 52962853 52962853 T C SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known silent c.1002 p.E334 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 16 0 0 16 6 27.2727 ZBTB48 0 genome.wustl.edu 37 1 6642126 6642126 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 6642126 6642126 G A SNP ZBTB48 ENST00000377674 human ensembl 74_37 +1 known silent c.699 p.V233 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 76 0 0 90 18 16.6667 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74835200 74835200 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 74835200 74835200 G C SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.1940 p.S647T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 127 0 0 112 7 5.88235 ST6GALNAC5 0 genome.wustl.edu 37 1 77334182 77334182 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 77334182 77334182 C T SNP ST6GALNAC5 ENST00000477717 human ensembl 74_37 +1 known missense c.16 p.R6C 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 73 0 0 30 30 50 PIK3CD 0 genome.wustl.edu 37 1 9781570 9781570 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 1 9781570 9781570 G T SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.1952 p.C651F 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 49 0 0 70 13 15.6627 HPS1 0 genome.wustl.edu 37 10 100182182 100182182 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 100182182 100182182 G C SNP HPS1 ENST00000325103 human ensembl 74_37 -1 known missense c.1687 p.Q563E 0.293 NULL NULL - no_errors HPS1 HGNC ENSG00000107521 150 0 0 61 17 21.7949 BEND7 0 genome.wustl.edu 37 10 13541841 13541841 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 13541841 13541841 C T SNP BEND7 ENST00000396900 human ensembl 74_37 -1 known missense c.385 p.G129R 1.000 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 101 0 0 21 29 58 FRMD4A 0 genome.wustl.edu 37 10 13705453 13705453 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 13705453 13705453 C T SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known missense c.1660 p.E554K 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 46 0 0 22 7 24.1379 ST8SIA6 0 genome.wustl.edu 37 10 17362929 17362929 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 17362929 17362929 A T SNP ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known missense c.1145 p.L382H 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 203 0 0 41 46 52.8736 NEBL 0 genome.wustl.edu 37 10 21108363 21108363 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 21108363 21108363 T A SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.2045 p.Q682L 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 192 0 0 65 40 38.0952 ARMC3 0 genome.wustl.edu 37 10 23321871 23321871 + Silent SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 23321871 23321871 G C SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known silent c.2328 p.L776 0.980 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 38 0 0 14 12 46.1538 MTPAP 0 genome.wustl.edu 37 10 30638189 30638189 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 30638189 30638189 C G SNP MTPAP ENST00000263063 human ensembl 74_37 -1 known missense c.16 p.V6L 0.011 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 59 0 0 21 19 47.5 PCDH15 0 genome.wustl.edu 37 10 55581852 55581852 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 55581852 55581852 T G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.5634 p.E1878D 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 204 0 0 72 48 40 CCAR1 0 genome.wustl.edu 37 10 70507209 70507209 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 70507209 70507209 G T SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.712 p.V238F 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 181 0 0 90 43 32.3308 H2AFY2 0 genome.wustl.edu 37 10 71871328 71871328 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 71871328 71871328 C T SNP H2AFY2 ENST00000373255 human ensembl 74_37 +1 known silent c.1008 p.A336 1.000 pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom,prints_Histone_H2A - no_errors H2AFY2 HGNC ENSG00000099284 105 0 0 86 15 14.8515 CDH23 0 genome.wustl.edu 37 10 73569611 73569611 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 73569611 73569611 C T SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known silent c.2037 p.L679 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 160 0 0 65 58 47.1545 LRIT2 0 genome.wustl.edu 37 10 85981827 85981827 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 85981827 85981827 A C SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known missense c.1532 p.L511R 0.053 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 101 0 0 46 14 23.3333 PDE6C 0 genome.wustl.edu 37 10 95422388 95422388 + Silent SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 10 95422388 95422388 T G SNP PDE6C ENST00000371447 human ensembl 74_37 +1 known silent c.2355 p.T785 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 27 0 0 8 5 38.4615 NXPE1 0 genome.wustl.edu 37 11 114392868 114392868 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 114392868 114392868 C A SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.1466 p.R489M 0.004 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 93 0 0 9 39 81.25 TECTA 0 genome.wustl.edu 37 11 121028610 121028610 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 121028610 121028610 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.4366 p.V1456M 1.000 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 91 0 0 8 57 87.6923 STT3A 0 genome.wustl.edu 37 11 125472244 125472244 + Missense_Mutation SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 125472244 125472244 T C SNP STT3A ENST00000392708 human ensembl 74_37 +1 known missense c.196 p.Y66H 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 45 0 0 14 7 33.3333 MUC5B 0 genome.wustl.edu 37 11 1256378 1256378 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 1256378 1256378 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.2703 p.Y901 0.936 pfam_VWF_type-D,smart_VWC_out,smart_VWF_C,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 69 0 0 60 8 11.7647 SLC22A18 0 genome.wustl.edu 37 11 2924580 2924580 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 2924580 2924580 A T SNP SLC22A18 ENST00000312221 human ensembl 74_37 +1 known missense c.5 p.Q2L 0.634 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC22A18 HGNC ENSG00000110628 107 0 0 81 24 22.8571 STIM1 0 genome.wustl.edu 37 11 4095836 4095836 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 4095836 4095836 G T SNP STIM1 ENST00000300737 human ensembl 74_37 +1 known missense c.896 p.R299L 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 28 0 0 15 7 31.8182 OR4A16 0 genome.wustl.edu 37 11 55111371 55111371 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 55111371 55111371 A G SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.695 p.H232R 0.009 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 84 0 0 56 8 12.5 OR4C16 0 genome.wustl.edu 37 11 55339863 55339863 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 55339863 55339863 A C SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.260 p.K87T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 190 1 0.52356 120 78 39.3939 UBQLNL 0 genome.wustl.edu 37 11 5536703 5536703 + Silent SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 5536703 5536703 G T SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative silent c.969 p.L323 0.663 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 88 0 0 48 43 47.2527 KCNK7 0 genome.wustl.edu 37 11 65361273 65361273 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 65361273 65361273 G A SNP KCNK7 ENST00000340313 human ensembl 74_37 -1 known missense c.392 p.P131L 1.000 pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom pirsf_2pore_dom_K_chnl_TASK,pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TWIK - no_errors KCNK7 HGNC ENSG00000173338 78 0 0 71 22 23.6559 LRP5 0 genome.wustl.edu 37 11 68131241 68131241 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 68131241 68131241 C T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.713 p.T238M 0.985 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 30 0 0 18 13 41.9355 OR10A2 0 genome.wustl.edu 37 11 6891832 6891832 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 6891832 6891832 G A SNP OR10A2 ENST00000307322 human ensembl 74_37 +1 known missense c.847 p.E283K 0.999 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A2 HGNC ENSG00000170790 123 0 0 52 52 50 RBMXL2 0 genome.wustl.edu 37 11 7110655 7110655 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 7110655 7110655 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known missense c.304 p.R102C 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 10 0 0 10 3 23.0769 FAT3 0 genome.wustl.edu 37 11 92568067 92568067 + Nonsense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 92568067 92568067 T A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known nonsense c.9903 p.Y3301* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 18 0 0 7 6 46.1538 SWAP70 0 genome.wustl.edu 37 11 9749681 9749681 + Missense_Mutation SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 9749681 9749681 T C SNP SWAP70 ENST00000318950 human ensembl 74_37 +1 known missense c.724 p.Y242H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC ENSG00000133789 135 0 0 84 27 24.3243 CLEC2B 0 genome.wustl.edu 37 12 10010172 10010172 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 10010172 10010172 G C SNP CLEC2B ENST00000228438 human ensembl 74_37 -1 known missense c.138 p.C46W 0.460 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2B HGNC ENSG00000110852 29 0 0 17 9 34.6154 GCN1L1 0 genome.wustl.edu 37 12 120565739 120565739 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 120565739 120565739 G A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known silent c.7930 p.L2644 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 80 0 0 67 13 16.25 RNF10 0 genome.wustl.edu 37 12 120992606 120992606 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 120992606 120992606 C A SNP RNF10 ENST00000413266 human ensembl 74_37 +1 known missense c.640 p.Q214K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 132 0 0 88 33 27.2727 OGFOD2 0 genome.wustl.edu 37 12 123463020 123463020 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 123463020 123463020 C A SNP OGFOD2 ENST00000228922 human ensembl 74_37 +1 known missense c.435 p.F145L 0.962 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD2 HGNC ENSG00000111325 67 0 0 40 48 54.5455 DNAH10 0 genome.wustl.edu 37 12 124416017 124416017 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 124416017 124416017 C G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.12560 p.T4187R 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 27 0 0 31 6 16.2162 TMEM132B 0 genome.wustl.edu 37 12 126138241 126138241 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 126138241 126138241 T G SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.2222 p.L741R 0.906 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 124 0 0 57 65 53.2787 SLCO1B3 0 genome.wustl.edu 37 12 20968679 20968679 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 20968679 20968679 C A SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.7 p.Q3K 0.064 superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 60 0 0 14 6 30 SLCO1A2 0 genome.wustl.edu 37 12 21459818 21459818 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 21459818 21459818 G A SNP SLCO1A2 ENST00000307378 human ensembl 74_37 -1 known missense c.440 p.S147L 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 38 0 0 18 9 33.3333 LRRK2 0 genome.wustl.edu 37 12 40672031 40672031 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 40672031 40672031 C G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2209 p.Q737E 0.966 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 150 0 0 41 46 52.8736 PRICKLE1 0 genome.wustl.edu 37 12 42854155 42854155 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 42854155 42854155 G A SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known missense c.1952 p.P651L 0.999 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 68 0 0 69 11 13.75 SCAF11 0 genome.wustl.edu 37 12 46345486 46345486 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 46345486 46345486 G A SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.244 p.R82C 1.000 pfscan_Znf_RING smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 69 0 0 36 19 34.5455 PRPF40B 0 genome.wustl.edu 37 12 50026400 50026400 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 50026400 50026400 G A SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known missense c.316 p.A106T 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 164 1 0.606061 58 110 65.4762 SLC39A5 0 genome.wustl.edu 37 12 56629423 56629423 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 56629423 56629423 T A SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known missense c.884 p.L295H 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 280 0 0 100 195 66.1017 SPRYD4 0 genome.wustl.edu 37 12 56862392 56862392 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 56862392 56862392 C A SNP SPRYD4 ENST00000338146 human ensembl 74_37 +1 known missense c.17 p.A6E 0.037 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors SPRYD4 HGNC ENSG00000176422 192 0 0 77 101 56.7416 PPFIA2 0 genome.wustl.edu 37 12 81661791 81661791 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 81661791 81661791 A T SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.3386 p.I1129K 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 10 0 0 2 5 71.4286 C12orf50 0 genome.wustl.edu 37 12 88379766 88379766 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 12 88379766 88379766 C T SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known silent c.987 p.A329 0.629 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 123 0 0 86 77 47.2393 PARP4 0 genome.wustl.edu 37 13 25000656 25000656 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 25000656 25000656 C G SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.4927 p.E1643Q 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 59 0 0 38 31 44.9275 FRY 0 genome.wustl.edu 37 13 32731485 32731485 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 32731485 32731485 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.1727 p.R576K 0.994 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 56 0 0 205 31 13.1356 BRCA2 0 genome.wustl.edu 37 13 32914295 32914295 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 32914295 32914295 A G SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.5803 p.N1935D 0.006 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 59 0 0 352 28 7.36842 PDS5B 0 genome.wustl.edu 37 13 33226081 33226081 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 33226081 33226081 C G SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known missense c.249 p.C83W 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 137 0 0 893 54 5.70222 NBEA 0 genome.wustl.edu 37 13 36241642 36241642 + Nonsense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 36241642 36241642 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known nonsense c.8533 p.R2845* 0.978 superfamily_WD40_repeat_dom 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 168 0 0 330 50 13.1579 DCLK1 0 genome.wustl.edu 37 13 36686256 36686256 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 36686256 36686256 G C SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.473 p.S158W 0.999 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 77 0 0 315 20 5.97015 TRPC4 0 genome.wustl.edu 37 13 38320579 38320579 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 38320579 38320579 A T SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.392 p.L131H 0.999 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 132 0 0 175 46 20.8145 RB1 0 genome.wustl.edu 37 13 48942706 48942706 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 48942706 48942706 G C SNP RB1 ENST00000267163 human ensembl 74_37 +1 known missense c.1093 p.E365Q 1.000 NULL pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 64 0 0 26 82 75.9259 PCDH17 0 genome.wustl.edu 37 13 58207849 58207849 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 58207849 58207849 G T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1169 p.R390L 0.979 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 25 0 0 3 12 80 KLF5 0 genome.wustl.edu 37 13 73636262 73636262 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 73636262 73636262 G A SNP KLF5 ENST00000377687 human ensembl 74_37 +1 known silent c.525 p.T175 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF5 HGNC ENSG00000102554 106 0 0 67 49 42.2414 SLITRK5 0 genome.wustl.edu 37 13 88328417 88328417 + Silent SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 13 88328417 88328417 G C SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.774 p.L258 0.997 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 166 0 0 69 10 12.6582 KIF26A 0 genome.wustl.edu 37 14 104643572 104643572 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 104643572 104643572 G A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.4447 p.G1483S 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 26 0 0 21 13 38.2353 TM9SF1 0 genome.wustl.edu 37 14 24662101 24662101 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 24662101 24662101 G A SNP TM9SF1 ENST00000556387 human ensembl 74_37 -1 known silent c.1347 p.I449 1.000 pfam_EMP70 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 51 0 0 38 8 17.3913 HECTD1 0 genome.wustl.edu 37 14 31582500 31582500 + Nonsense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 31582500 31582500 G C SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known nonsense c.6047 p.S2016* 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 113 1 0.877193 59 46 43.8095 SRSF5 0 genome.wustl.edu 37 14 70235366 70235366 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 70235366 70235366 G C SNP SRSF5 ENST00000451983 human ensembl 74_37 +1 known missense c.172 p.D58H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 141 0 0 69 45 39.4737 SLC10A1 0 genome.wustl.edu 37 14 70263537 70263537 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 70263537 70263537 C T SNP SLC10A1 ENST00000216540 human ensembl 74_37 -1 known missense c.336 p.M112I 0.061 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A1 HGNC ENSG00000100652 27 0 0 17 18 51.4286 HEATR4 0 genome.wustl.edu 37 14 73959794 73959794 + Silent SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 73959794 73959794 A G SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known silent c.2820 p.V940 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 107 0 0 61 43 41.3462 ATP10A 0 genome.wustl.edu 37 15 25972349 25972349 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 25972349 25972349 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.805 p.L269F 0.990 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 94 0 0 34 39 53.4247 APBA2 0 genome.wustl.edu 37 15 29346097 29346097 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 29346097 29346097 C T SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.10 p.R4W 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 39 0 0 15 8 34.7826 GJD2 0 genome.wustl.edu 37 15 35045224 35045224 + Nonsense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 35045224 35045224 C A SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known nonsense c.421 p.E141* 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 205 0 0 117 10 7.87402 AQR 0 genome.wustl.edu 37 15 35149250 35149250 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 35149250 35149250 C T SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.4201 p.E1401K 0.998 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 62 0 0 7 31 81.5789 MGA 0 genome.wustl.edu 37 15 42041423 42041423 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 42041423 42041423 C A SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.5618 p.S1873Y 0.972 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 56 0 0 23 20 46.5116 TGM5 0 genome.wustl.edu 37 15 43552729 43552729 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 43552729 43552729 C T SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.59 p.R20Q 0.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 141 0 0 93 37 28.4615 CYP19A1 0 genome.wustl.edu 37 15 51507970 51507970 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 51507970 51507970 C A SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known missense c.788 p.R263I 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 92 0 0 69 11 13.75 RFX7 0 genome.wustl.edu 37 15 56535343 56535343 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 56535343 56535343 G C SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.141 p.H47Q 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 21 0 0 9 4 30.7692 CGNL1 0 genome.wustl.edu 37 15 57744397 57744397 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 57744397 57744397 G A SNP CGNL1 ENST00000281282 human ensembl 74_37 +1 known missense c.1964 p.R655Q 0.063 NULL pfam_Myosin_tail,prints_Tropomyosin - no_errors CGNL1 HGNC ENSG00000128849 49 0 0 29 7 19.4444 KIAA0101 0 genome.wustl.edu 37 15 64673156 64673156 + Splice_Site SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 64673156 64673156 C A SNP KIAA0101 ENST00000300035 human ensembl 74_37 -1 known splice_site c.127+1 e2+1 1.000 - - - no_errors KIAA0101 HGNC ENSG00000166803 34 0 0 41 5 10.8696 PEAK1 0 genome.wustl.edu 37 15 77473936 77473936 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 77473936 77473936 C G SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.333 p.L111F 0.952 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 186 0 0 135 25 15.625 ACAN 0 genome.wustl.edu 37 15 89392809 89392809 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 89392809 89392809 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.1873 p.G625S 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 19 0 0 25 6 19.3548 ACAN 0 genome.wustl.edu 37 15 89398471 89398471 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 15 89398471 89398471 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known silent c.2655 p.Q885 0.288 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 58 0 0 54 11 16.9231 LOC653786 0 genome.wustl.edu 37 16 22588087 22588087 + RNA SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 22588087 22588087 G A SNP LOC653786 ENST00000550753 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 25 0 0 28 17 37.7778 SRCAP 0 genome.wustl.edu 37 16 30740816 30740816 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 30740816 30740816 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.6050 p.R2017Q 1.000 superfamily_P-loop_NTPase 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 138 0 0 161 68 29.6943 SETD1A 0 genome.wustl.edu 37 16 30990652 30990652 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 30990652 30990652 C G SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.3545 p.P1182R 0.924 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 59 0 0 63 35 35.7143 CREBBP 0 genome.wustl.edu 37 16 3778853 3778853 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 3778853 3778853 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known silent c.6195 p.S2065 0.819 pfam_Nuc_rcpt_coact_CREBbp,superfamily_Nuc_rcpt_coact pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 78 0 0 309 25 7.48503 SEC14L5 0 genome.wustl.edu 37 16 5046920 5046920 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 5046920 5046920 G A SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known missense c.845 p.R282Q 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 33 0 0 23 62 72.9412 CDH16 0 genome.wustl.edu 37 16 66945920 66945920 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 66945920 66945920 C T SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known missense c.1672 p.V558M 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 144 1 0.689655 85 59 40.9722 PHLPP2 0 genome.wustl.edu 37 16 71683148 71683148 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 71683148 71683148 C T SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known missense c.3617 p.R1206Q 1.000 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 83 0 0 59 53 47.3214 HAGHL 0 genome.wustl.edu 37 16 777579 777579 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 777579 777579 G C SNP HAGHL ENST00000341413 human ensembl 74_37 +1 known missense c.70 p.E24Q 0.326 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors HAGHL HGNC ENSG00000103253 32 0 0 5 14 73.6842 CDH15 0 genome.wustl.edu 37 16 89253859 89253859 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 16 89253859 89253859 C A SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known missense c.686 p.T229N 0.977 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 33 0 0 33 9 21.4286 MYH3 0 genome.wustl.edu 37 17 10535024 10535024 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 10535024 10535024 C A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.5190 p.K1730N 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 52 0 0 5 20 80 LIG3 0 genome.wustl.edu 37 17 33329025 33329025 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 33329025 33329025 G A SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known missense c.2576 p.G859D 0.006 NULL pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 45 0 0 36 11 23.4043 GPR179 0 genome.wustl.edu 37 17 36499575 36499575 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 36499575 36499575 C A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.98 p.R33L 0.026 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 61 0 0 113 7 5.83333 CDK12 0 genome.wustl.edu 37 17 37627800 37627800 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 37627800 37627800 C A SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.1715 p.A572E 0.289 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 283 1 0.352113 5228 462 8.11951 CDK12 0 genome.wustl.edu 37 17 37627808 37627808 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 37627808 37627808 C G SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known missense c.1723 p.Q575E 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 279 1 0.357143 5130 458 8.19613 KRT25 0 genome.wustl.edu 37 17 38911429 38911429 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 38911429 38911429 G A SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known missense c.95 p.T32I 0.768 NULL pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 62 0 0 35 21 37.5 KRT33A 0 genome.wustl.edu 37 17 39503152 39503152 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 39503152 39503152 C T SNP KRT33A ENST00000007735 human ensembl 74_37 -1 known missense c.820 p.E274K 0.986 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 130 0 0 102 6 5.55556 KRT32 0 genome.wustl.edu 37 17 39616422 39616422 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 39616422 39616422 G A SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known silent c.1287 p.T429 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 36 0 0 19 8 29.6296 EFCAB13 0 genome.wustl.edu 37 17 45468804 45468804 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 45468804 45468804 G A SNP EFCAB13 ENST00000331493 human ensembl 74_37 +1 known silent c.1584 p.A528 0.002 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 41 0 0 28 3 9.67742 NLRP1 0 genome.wustl.edu 37 17 5421182 5421182 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 5421182 5421182 G C SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.3941 p.P1314R 0.748 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 72 0 0 6 41 87.234 SEPT4 0 genome.wustl.edu 37 17 56598633 56598633 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 56598633 56598633 G A SNP SEPT4 ENST00000457347 human ensembl 74_37 -1 known missense c.1141 p.P381S 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT4 HGNC ENSG00000108387 88 0 0 56 42 42.8571 LRRC37A3 0 genome.wustl.edu 37 17 62892245 62892245 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 62892245 62892245 C T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known silent c.1131 p.P377 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 409 1 0.243902 324 116 26.3636 B4GALT6 0 genome.wustl.edu 37 18 29246225 29246225 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 18 29246225 29246225 C G SNP B4GALT6 ENST00000306851 human ensembl 74_37 -1 known missense c.226 p.G76R 1.000 NULL pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT6 HGNC ENSG00000118276 94 0 0 7 38 84.4444 NOL4 0 genome.wustl.edu 37 18 31538354 31538354 + Missense_Mutation SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 18 31538354 31538354 T C SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known missense c.1085 p.D362G 1.000 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 125 0 0 16 63 79.7468 COL5A3 0 genome.wustl.edu 37 19 10090546 10090546 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 10090546 10090546 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.2681 p.R894Q 0.001 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 93 0 0 82 13 13.6842 TYK2 0 genome.wustl.edu 37 19 10477093 10477093 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 10477093 10477093 C A SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known missense c.629 p.S210I 1.000 superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 68 0 0 17 36 67.9245 KANK2 0 genome.wustl.edu 37 19 11303898 11303898 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 11303898 11303898 G A SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known silent c.858 p.A286 0.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 32 0 0 17 25 59.5238 RFXANK 0 genome.wustl.edu 37 19 19309966 19309966 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 19309966 19309966 G A SNP RFXANK ENST00000303088 human ensembl 74_37 +1 known missense c.635 p.R212Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors RFXANK HGNC ENSG00000064490 85 0 0 50 26 34.2105 ZNF675 0 genome.wustl.edu 37 19 23837268 23837268 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 23837268 23837268 A T SNP ZNF675 ENST00000359788 human ensembl 74_37 -1 known missense c.467 p.F156Y 0.000 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 ZNF675 HGNC ENSG00000197372 31 0 0 12 10 45.4545 UBA2 0 genome.wustl.edu 37 19 34957880 34957880 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 34957880 34957880 A T SNP UBA2 ENST00000246548 human ensembl 74_37 +1 known missense c.1702 p.N568Y 1.000 NULL pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 33 0 0 33 32 49.2308 ZNF570 0 genome.wustl.edu 37 19 37966832 37966832 + Nonsense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 37966832 37966832 G A SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known nonsense c.83 p.W28* 0.996 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 96 0 0 234 18 7.14286 RYR1 0 genome.wustl.edu 37 19 38946111 38946111 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 38946111 38946111 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.1597 p.R533C 1.000 pfam_Ca-rel_channel 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 75 0 0 81 7 7.95455 FCGBP 0 genome.wustl.edu 37 19 40354319 40354319 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 40354319 40354319 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.16150 p.H5384Y 0.001 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 50 0 0 35 41 53.9474 ZNF780B 0 genome.wustl.edu 37 19 40541163 40541163 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 40541163 40541163 C T SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known missense c.1603 p.G535R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780B HGNC ENSG00000128000 79 0 0 103 12 10.4348 ZNF526 0 genome.wustl.edu 37 19 42729007 42729007 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 42729007 42729007 C T SNP ZNF526 ENST00000301215 human ensembl 74_37 +1 known missense c.452 p.S151L 0.451 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ENSG00000167625 127 1 0.78125 87 12 12.1212 ZNF415 0 genome.wustl.edu 37 19 53619674 53619674 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 53619674 53619674 C T SNP ZNF415 ENST00000243643 human ensembl 74_37 -1 known missense c.28 p.D10N 0.132 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF415 HGNC ENSG00000170954 86 0 0 42 12 22.2222 ZNF677 0 genome.wustl.edu 37 19 53740302 53740302 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 53740302 53740302 C A SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.1678 p.D560Y 0.000 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 ZNF677 HGNC ENSG00000197928 35 0 0 10 10 50 ZNF835 0 genome.wustl.edu 37 19 57176313 57176313 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 57176313 57176313 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.254 p.A85V 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 47 0 0 29 13 30.9524 ZSCAN4 0 genome.wustl.edu 37 19 58187715 58187715 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 58187715 58187715 A G SNP ZSCAN4 ENST00000318203 human ensembl 74_37 +1 known missense c.202 p.I68V 0.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN4 HGNC ENSG00000180532 99 0 0 52 19 26.7606 MAP2K7 0 genome.wustl.edu 37 19 7975587 7975587 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 7975587 7975587 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.700 p.V234I 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 MAP2K7 HGNC ENSG00000076984 20 0 0 7 14 66.6667 MUC16 0 genome.wustl.edu 37 19 9084191 9084191 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 9084191 9084191 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7624 p.F2542V 0.543 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 50 0 0 39 27 40.9091 ZNF812 0 genome.wustl.edu 37 19 9801936 9801936 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 19 9801936 9801936 T G SNP ZNF812 ENST00000457674 human ensembl 74_37 -1 novel missense c.243 p.E81D 0.006 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF812 HGNC ENSG00000224689 37 0 0 21 5 19.2308 PSD4 0 genome.wustl.edu 37 2 113941039 113941039 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 113941039 113941039 G T SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.1006 p.A336S 0.002 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 69 0 0 34 19 35.8491 DPP10 0 genome.wustl.edu 37 2 116101407 116101407 + Missense_Mutation SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 116101407 116101407 T C SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known missense c.202 p.S68P 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 52 0 0 33 4 10.8108 CNTNAP5 0 genome.wustl.edu 37 2 124979336 124979336 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 124979336 124979336 C A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.137 p.S46Y 0.995 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 18 0 0 2 6 75 CNTNAP5 0 genome.wustl.edu 37 2 125192138 125192138 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 125192138 125192138 G T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.607 p.D203Y 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 68 0 0 40 17 29.8246 MAP3K19 0 genome.wustl.edu 37 2 135740901 135740901 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 135740901 135740901 C G SNP MAP3K19 ENST00000392915 human ensembl 74_37 -1 putative missense c.3274 p.V1092L 0.005 NULL NULL - no_errors MAP3K19 HGNC ENSG00000176601 44 0 0 22 9 29.0323 LRP1B 0 genome.wustl.edu 37 2 141747131 141747131 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 141747131 141747131 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2740 p.N914H 1.000 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_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 94 0 0 32 42 56.7568 LRP1B 0 genome.wustl.edu 37 2 141747165 141747165 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 141747165 141747165 T A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.2706 p.R902S 0.997 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_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 94 0 0 23 30 56.6038 LY75 0 genome.wustl.edu 37 2 160735848 160735848 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 160735848 160735848 C A SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.1437 p.E479D 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 79 0 0 24 27 52.9412 FIGN 0 genome.wustl.edu 37 2 164466844 164466844 + Nonsense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 164466844 164466844 C A SNP FIGN ENST00000333129 human ensembl 74_37 -1 known nonsense c.1498 p.E500* 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 94 0 0 44 22 33.3333 DYNC1I2 0 genome.wustl.edu 37 2 172584865 172584865 + Silent SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 172584865 172584865 G C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1194 p.L398 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 17 0 0 11 23 67.6471 AGPS 0 genome.wustl.edu 37 2 178305743 178305743 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 178305743 178305743 C A SNP AGPS ENST00000264167 human ensembl 74_37 +1 known missense c.688 p.L230I 1.000 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 60 0 0 32 6 15.7895 TTN 0 genome.wustl.edu 37 2 179583310 179583310 + Nonsense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 179583310 179583310 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.20791 p.K6931* 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,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 41 0 0 27 30 52.6316 ITGAV 0 genome.wustl.edu 37 2 187521025 187521025 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 187521025 187521025 G A SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known missense c.1616 p.R539Q 0.998 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 133 1 0.746269 51 55 51.8868 ZDBF2 0 genome.wustl.edu 37 2 207170956 207170956 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 207170956 207170956 C T SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.1704 p.T568 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 33 0 0 18 34 65.3846 CNPPD1 0 genome.wustl.edu 37 2 220037339 220037339 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 220037339 220037339 G T SNP CNPPD1 ENST00000360507 human ensembl 74_37 -1 known missense c.1202 p.A401D 1.000 NULL pfam_Cyclin_PHO80-like,superfamily_Cyclin-like - no_errors CNPPD1 HGNC ENSG00000115649 105 0 0 71 26 26.8041 GIGYF2 0 genome.wustl.edu 37 2 233721521 233721521 + Nonsense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 233721521 233721521 C A SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known nonsense c.3917 p.S1306* 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 118 0 0 66 5 7.04225 ADCY3 0 genome.wustl.edu 37 2 25050898 25050898 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 25050898 25050898 C T SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.2305 p.V769M 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 65 0 0 47 34 41.9753 DPYSL5 0 genome.wustl.edu 37 2 27167581 27167581 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 27167581 27167581 G A SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.1498 p.V500M 0.998 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 111 0 0 65 45 40.9091 TRIM54 0 genome.wustl.edu 37 2 27528559 27528559 + Silent SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 27528559 27528559 A G SNP TRIM54 ENST00000296098 human ensembl 74_37 +1 known silent c.843 p.Q281 1.000 superfamily_Chorismate_mutase_type_II pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC ENSG00000138100 18 0 0 17 9 34.6154 FOSL2 0 genome.wustl.edu 37 2 28631726 28631726 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 28631726 28631726 T G SNP FOSL2 ENST00000264716 human ensembl 74_37 +1 known missense c.455 p.L152R 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL2 HGNC ENSG00000075426 17 0 0 18 3 14.2857 CDKL4 0 genome.wustl.edu 37 2 39431694 39431694 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 39431694 39431694 C A SNP CDKL4 ENST00000378803 human ensembl 74_37 -1 known missense c.428 p.C143F 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 CDKL4 HGNC ENSG00000205111 49 0 0 36 7 16.2791 SLC8A1 0 genome.wustl.edu 37 2 40656004 40656004 + Nonsense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 40656004 40656004 T A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known nonsense c.1417 p.K473* 1.000 pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 66 0 0 39 12 23.5294 NRXN1 0 genome.wustl.edu 37 2 50464017 50464017 + Silent SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 50464017 50464017 C A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.3432 p.L1144 1.000 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 NRXN1 HGNC ENSG00000179915 68 0 0 65 6 8.4507 SMEK2 0 genome.wustl.edu 37 2 55806900 55806900 + Silent SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 55806900 55806900 T C SNP SMEK2 ENST00000272313 human ensembl 74_37 -1 known silent c.1383 p.E461 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 28 0 0 15 15 50 CCDC85A 0 genome.wustl.edu 37 2 56603050 56603050 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 56603050 56603050 C T SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.1552 p.P518S 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 51 0 0 19 23 54.7619 SNRNP200 0 genome.wustl.edu 37 2 96949007 96949007 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 96949007 96949007 C A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.4847 p.G1616V 1.000 superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 107 0 0 94 23 19.6581 PCSK2 0 genome.wustl.edu 37 20 17462414 17462414 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 17462414 17462414 G A SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known missense c.1616 p.R539H 1.000 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 62 0 0 35 18 33.9623 SLC24A3 0 genome.wustl.edu 37 20 19634756 19634756 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 19634756 19634756 G A SNP SLC24A3 ENST00000328041 human ensembl 74_37 +1 known silent c.663 p.T221 0.633 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 105 1 0.943396 68 11 13.9241 C20orf26 0 genome.wustl.edu 37 20 20177401 20177401 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 20177401 20177401 C A SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.1778 p.P593Q 1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 63 0 0 38 8 17.3913 CD93 0 genome.wustl.edu 37 20 23065878 23065878 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 23065878 23065878 C T SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.952 p.V318I 0.000 pirsf_CD93/CD141,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 74 0 0 58 13 18.3099 SLA2 0 genome.wustl.edu 37 20 35262936 35262936 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 35262936 35262936 C T SNP SLA2 ENST00000262866 human ensembl 74_37 -1 known missense c.148 p.E50K 0.292 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain 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 52 0 0 40 29 42.029 PPP1R16B 0 genome.wustl.edu 37 20 37536565 37536565 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 37536565 37536565 G A SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known missense c.1015 p.A339T 0.804 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 49 0 0 38 26 40.625 PTPRT 0 genome.wustl.edu 37 20 40790170 40790170 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 40790170 40790170 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2561 p.R854H 0.991 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 91 0 0 72 15 17.2414 NFATC2 0 genome.wustl.edu 37 20 50049200 50049200 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 50049200 50049200 G A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.2126 p.P709L 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 72 0 0 42 33 44 PROKR2 0 genome.wustl.edu 37 20 5283178 5283178 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 5283178 5283178 C G SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.663 p.K221N 0.972 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 100 0 0 79 5 5.95238 GNAS 0 genome.wustl.edu 37 20 57428722 57428722 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 57428722 57428722 C T SNP GNAS ENST00000306120 human ensembl 74_37 +1 putative missense c.212 p.S71L 0.000 NULL NULL - no_errors GNAS HGNC ENSG00000087460 50 0 0 33 31 48.4375 TAF4 0 genome.wustl.edu 37 20 60585200 60585200 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 60585200 60585200 C T SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known missense c.1663 p.A555T 0.639 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 81 0 0 54 36 40 SRMS 0 genome.wustl.edu 37 20 62173618 62173618 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 20 62173618 62173618 G A SNP SRMS ENST00000217188 human ensembl 74_37 -1 known missense c.844 p.H282Y 0.999 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SRMS HGNC ENSG00000125508 67 0 0 28 25 47.1698 TIAM1 0 genome.wustl.edu 37 21 32598200 32598200 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 21 32598200 32598200 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.1651 p.A551T 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 98 0 0 40 15 27.2727 MCM3AP 0 genome.wustl.edu 37 21 47703750 47703750 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 21 47703750 47703750 A G SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.1222 p.S408P 0.989 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 71 0 0 64 22 25.5814 CECR1 0 genome.wustl.edu 37 22 17662907 17662907 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 17662907 17662907 C T SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known silent c.1245 p.L415 0.998 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 48 0 0 26 16 38.0952 ARVCF 0 genome.wustl.edu 37 22 19966559 19966559 + Missense_Mutation SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 19966559 19966559 T C SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.1441 p.I481V 1.000 superfamily_ARM-type_fold,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 63 0 0 34 41 54.6667 SMARCB1 0 genome.wustl.edu 37 22 24129419 24129419 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 24129419 24129419 C A SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known missense c.63 p.D21E 0.995 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 98 0 0 76 12 13.6364 SF3A1 0 genome.wustl.edu 37 22 30736792 30736792 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 30736792 30736792 C T SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known missense c.1081 p.D361N 1.000 pfam_PRP21-like pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 105 0 0 57 45 44.1176 GALR3 0 genome.wustl.edu 37 22 38221183 38221183 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 38221183 38221183 C T SNP GALR3 ENST00000249041 human ensembl 74_37 +1 known silent c.813 p.A271 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt,prints_GPCR_Rhodpsn,prints_Galnin_3_rcpt - no_errors GALR3 HGNC ENSG00000128310 35 0 0 38 8 17.3913 TTLL1 0 genome.wustl.edu 37 22 43442433 43442433 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 43442433 43442433 G A SNP TTLL1 ENST00000266254 human ensembl 74_37 -1 known silent c.1125 p.L375 0.004 NULL pfam_TTL/TTLL_fam - no_errors TTLL1 HGNC ENSG00000100271 163 1 0.609756 199 22 9.95475 SCO2 0 genome.wustl.edu 37 22 50962655 50962655 + Silent SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 50962655 50962655 C A SNP SCO2 ENST00000252785 human ensembl 74_37 -1 known silent c.186 p.L62 0.001 pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO2 HGNC ENSG00000130489 98 0 0 109 6 5.21739 ZBTB20 0 genome.wustl.edu 37 3 114070238 114070238 + Silent SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 114070238 114070238 C A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known silent c.687 p.S229 0.109 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 90 0 0 36 54 60 DNAJC13 0 genome.wustl.edu 37 3 132213068 132213068 + Silent SNP T T C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 132213068 132213068 T C SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known silent c.3906 p.A1302 0.995 pfam_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 78 0 0 36 13 26.5306 TTC14 0 genome.wustl.edu 37 3 180322061 180322061 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 180322061 180322061 C A SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known missense c.535 p.P179T 1.000 superfamily_NA-bd_OB-fold,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 79 0 0 57 12 17.3913 ECE2 0 genome.wustl.edu 37 3 183994331 183994331 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 183994331 183994331 C T SNP ECE2 ENST00000404464 human ensembl 74_37 +1 known silent c.102 p.G34 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 28 0 0 17 13 43.3333 GP5 0 genome.wustl.edu 37 3 194118116 194118116 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 194118116 194118116 C T SNP GP5 ENST00000323007 human ensembl 74_37 -1 known missense c.896 p.R299H 0.001 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 45 0 0 26 15 36.5854 TCTEX1D2 0 genome.wustl.edu 37 3 196022894 196022894 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 196022894 196022894 G A SNP TCTEX1D2 ENST00000325318 human ensembl 74_37 -1 known missense c.364 p.H122Y 0.989 pfam_Tctex pfam_Tctex - no_errors TCTEX1D2 HGNC ENSG00000213123 83 0 0 51 24 32 ZNF385D 0 genome.wustl.edu 37 3 21606135 21606135 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 21606135 21606135 C T SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known silent c.207 p.G69 0.977 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 73 0 0 49 7 12.5 ARPP21 0 genome.wustl.edu 37 3 35723288 35723288 + Silent SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 35723288 35723288 A G SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known silent c.45 p.G15 0.002 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 42 0 0 34 3 8.10811 SCN11A 0 genome.wustl.edu 37 3 38913164 38913164 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 38913164 38913164 G A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known silent c.3531 p.A1177 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 51 0 0 29 18 38.2979 CHL1 0 genome.wustl.edu 37 3 431088 431088 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 431088 431088 G T SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.2401 p.V801F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 59 0 0 46 5 9.80392 ANO10 0 genome.wustl.edu 37 3 43618239 43618239 + Silent SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 43618239 43618239 C G SNP ANO10 ENST00000292246 human ensembl 74_37 -1 known silent c.1107 p.V369 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 39 0 0 16 20 55.5556 STAB1 0 genome.wustl.edu 37 3 52550590 52550590 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 52550590 52550590 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.4273 p.D1425N 0.773 smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 78 0 0 53 19 26.3889 WNT5A 0 genome.wustl.edu 37 3 55504457 55504457 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 55504457 55504457 T G SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known missense c.806 p.K269T 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 24 0 0 6 12 66.6667 OR5H1 0 genome.wustl.edu 37 3 97852255 97852255 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 97852255 97852255 T G SNP OR5H1 ENST00000354565 human ensembl 74_37 +1 known missense c.714 p.F238L 0.046 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 101 0 0 51 16 23.8806 DNAJB14 0 genome.wustl.edu 37 4 100829971 100829971 + Nonsense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 100829971 100829971 A T SNP DNAJB14 ENST00000442697 human ensembl 74_37 -1 known nonsense c.534 p.C178* 0.854 superfamily_DnaJ_domain,prints_DnaJ_domain pfam_DUF1977_DnaJ-like,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB14 HGNC ENSG00000164031 75 0 0 36 12 25 NDST3 0 genome.wustl.edu 37 4 119145692 119145692 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 119145692 119145692 T G SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.1586 p.L529R 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 103 0 0 29 45 60.8108 RNF150 0 genome.wustl.edu 37 4 141832323 141832323 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 141832323 141832323 C A SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known missense c.1173 p.E391D 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 79 0 0 25 37 59.6774 RNF150 0 genome.wustl.edu 37 4 142053861 142053861 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 142053861 142053861 G A SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known silent c.102 p.A34 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 68 0 0 35 13 27.0833 GYPE 0 genome.wustl.edu 37 4 144801641 144801641 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 144801641 144801641 G A SNP GYPE ENST00000358615 human ensembl 74_37 -1 known missense c.59 p.S20L 0.000 NULL NULL - no_errors GYPE HGNC ENSG00000197465 151 0 0 67 40 37.3832 LRAT 0 genome.wustl.edu 37 4 155670188 155670188 + Nonsense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 155670188 155670188 C A SNP LRAT ENST00000336356 human ensembl 74_37 +1 known nonsense c.593 p.S198* 0.984 NULL pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 126 0 0 51 53 50.9615 TLL1 0 genome.wustl.edu 37 4 166960520 166960520 + Silent SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 166960520 166960520 A C SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.1188 p.L396 0.002 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 38 0 0 10 19 65.5172 TENM3 0 genome.wustl.edu 37 4 183714431 183714431 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 183714431 183714431 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.6606 p.T2202 0.128 superfamily_Cyt_c-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 75 0 0 30 29 49.1525 C4orf19 0 genome.wustl.edu 37 4 37592151 37592151 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 37592151 37592151 G C SNP C4orf19 ENST00000284437 human ensembl 74_37 +1 known missense c.474 p.M158I 0.000 NULL NULL - no_errors C4orf19 HGNC ENSG00000154274 88 0 0 50 27 35.0649 KDR 0 genome.wustl.edu 37 4 55979607 55979607 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 55979607 55979607 C G SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.840 p.Q280H 0.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 83 0 0 18 31 63.2653 LPHN3 0 genome.wustl.edu 37 4 62599168 62599168 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 62599168 62599168 T A SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1295 p.I432N 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 25 0 0 10 4 28.5714 TECRL 0 genome.wustl.edu 37 4 65170950 65170950 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 65170950 65170950 C A SNP TECRL ENST00000381210 human ensembl 74_37 -1 known missense c.664 p.A222S 1.000 pfam_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 85 0 0 43 9 17.3077 UBA6 0 genome.wustl.edu 37 4 68499962 68499962 + Nonsense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 68499962 68499962 G A SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known nonsense c.2011 p.Q671* 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 40 0 0 17 8 32 KIAA0232 0 genome.wustl.edu 37 4 6863629 6863629 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 6863629 6863629 C T SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.1520 p.T507M 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 60 0 0 14 24 63.1579 HELQ 0 genome.wustl.edu 37 4 84347199 84347199 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 84347199 84347199 C T SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.2723 p.G908E 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 141 0 0 40 52 56.5217 GRID2 0 genome.wustl.edu 37 4 94436443 94436443 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 94436443 94436443 C A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.2074 p.R692S 0.994 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 45 0 0 14 21 60 HPGDS 0 genome.wustl.edu 37 4 95239069 95239069 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 95239069 95239069 G C SNP HPGDS ENST00000295256 human ensembl 74_37 -1 known missense c.181 p.L61V 0.936 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors HPGDS HGNC ENSG00000163106 47 0 0 23 3 11.5385 CATSPER3 0 genome.wustl.edu 37 5 134343758 134343758 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 134343758 134343758 C G SNP CATSPER3 ENST00000282611 human ensembl 74_37 +1 known missense c.604 p.P202A 0.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 103 0 0 87 10 10.3093 PCDHA1 0 genome.wustl.edu 37 5 140167790 140167790 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 140167790 140167790 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.1915 p.E639K 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 137 0 0 65 74 53.2374 ENSG00000249034 0 genome.wustl.edu 37 5 140242486 140242486 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 140242486 140242486 C T SNP ENSG00000249034 ENST00000502505 human ensembl 74_37 -1 known missense c.490 p.A164T 0.000 NULL NULL - no_errors AC005609.1 Clone_based_ensembl_gene ENSG00000249034 18 0 0 12 6 33.3333 PCDHA11 0 genome.wustl.edu 37 5 140250240 140250240 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 140250240 140250240 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1552 p.A518T 0.825 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 186 0 0 168 55 24.6637 PCDHGA3 0 genome.wustl.edu 37 5 140725721 140725721 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 140725721 140725721 C T SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.2121 p.F707 0.105 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 168 0 0 157 15 8.72093 DIAPH1 0 genome.wustl.edu 37 5 140896533 140896533 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 140896533 140896533 G A SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.3707 p.S1236L 0.960 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 44 0 0 42 16 27.5862 HAND1 0 genome.wustl.edu 37 5 153855385 153855385 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 153855385 153855385 G A SNP HAND1 ENST00000231121 human ensembl 74_37 -1 known missense c.629 p.A210V 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HAND1 HGNC ENSG00000113196 65 0 0 60 19 24.0506 BTNL9 0 genome.wustl.edu 37 5 180472558 180472558 + Silent SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 180472558 180472558 C G SNP BTNL9 ENST00000376842 human ensembl 74_37 +1 known silent c.69 p.L23 0.515 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTNL9 HGNC ENSG00000165810 49 0 0 40 12 23.0769 C6 0 genome.wustl.edu 37 5 41176687 41176687 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 5 41176687 41176687 A G SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.1058 p.L353S 0.744 pfam_MACPF,smart_MACPF,prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 72 0 0 66 12 15.3846 TAAR2 0 genome.wustl.edu 37 6 132938390 132938390 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 132938390 132938390 A G SNP TAAR2 ENST00000367931 human ensembl 74_37 -1 known missense c.955 p.Y319H 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR2 HGNC ENSG00000146378 47 0 0 9 13 59.0909 EYA4 0 genome.wustl.edu 37 6 133802608 133802608 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 133802608 133802608 C T SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known silent c.978 p.F326 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 123 0 0 48 16 25 MAP3K5 0 genome.wustl.edu 37 6 136922971 136922971 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 136922971 136922971 G C SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.2826 p.S942R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 54 0 0 15 17 53.125 RPS6KA2 0 genome.wustl.edu 37 6 166923827 166923827 + Nonsense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 166923827 166923827 G T SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known nonsense c.392 p.S131* 0.885 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 56 0 0 38 11 22.449 HIST1H2AL 0 genome.wustl.edu 37 6 27833306 27833306 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 27833306 27833306 C T SNP HIST1H2AL ENST00000357320 human ensembl 74_37 +1 known silent c.174 p.Y58 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AL HGNC ENSG00000198374 152 0 0 180 12 6.25 HIST1H3I 0 genome.wustl.edu 37 6 27839850 27839850 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 27839850 27839850 C G SNP HIST1H3I ENST00000328488 human ensembl 74_37 -1 known missense c.244 p.D82H 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3I HGNC ENSG00000182572 148 0 0 115 46 28.5714 HIST1H2AM 0 genome.wustl.edu 37 6 27860772 27860772 + Silent SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 27860772 27860772 C A SNP HIST1H2AM ENST00000359611 human ensembl 74_37 -1 known silent c.156 p.L52 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AM HGNC ENSG00000233224 168 0 0 120 39 24.5283 HLA-B 0 genome.wustl.edu 37 6 31323183 31323183 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 31323183 31323183 G T SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.806 p.A269E 0.450 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 70 0 0 50 51 50.495 C6orf1 0 genome.wustl.edu 37 6 34214850 34214850 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 34214850 34214850 C G SNP C6orf1 ENST00000394990 human ensembl 74_37 -1 known missense c.96 p.R32S 1.000 NULL NULL - no_errors C6orf1 HGNC ENSG00000186577 176 0 0 161 46 22.2222 SCUBE3 0 genome.wustl.edu 37 6 35200674 35200674 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 35200674 35200674 C T SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known missense c.517 p.R173W 1.000 smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 196 0 0 155 9 5.4878 DNAH8 0 genome.wustl.edu 37 6 38851126 38851126 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 38851126 38851126 C A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.7379 p.T2460N 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 DNAH8 HGNC ENSG00000124721 97 0 0 79 19 19.3878 CUL9 0 genome.wustl.edu 37 6 43173095 43173095 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 43173095 43173095 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.4727 p.R1576Q 0.968 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 273 0 0 179 122 40.5316 BAI3 0 genome.wustl.edu 37 6 69772827 69772827 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 69772827 69772827 A T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2335 p.N779Y 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 37 0 0 31 6 16.2162 TPBG 0 genome.wustl.edu 37 6 83075015 83075015 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 83075015 83075015 C T SNP TPBG ENST00000369750 human ensembl 74_37 +1 known missense c.337 p.R113C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors TPBG HGNC ENSG00000146242 41 0 0 12 17 58.6207 CNR1 0 genome.wustl.edu 37 6 88854385 88854385 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 88854385 88854385 G A SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known silent c.609 p.S203 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 64 0 0 67 7 9.45946 MAP3K7 0 genome.wustl.edu 37 6 91281445 91281445 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 91281445 91281445 C T SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known missense c.202 p.E68K 1.000 pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 66 0 0 14 14 50 COL26A1 0 genome.wustl.edu 37 7 101091051 101091051 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 101091051 101091051 G T SNP COL26A1 ENST00000313669 human ensembl 74_37 +1 known missense c.368 p.G123V 1.000 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain - no_errors COL26A1 HGNC ENSG00000160963 10 0 0 8 3 27.2727 RELN 0 genome.wustl.edu 37 7 103155638 103155638 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 103155638 103155638 T G SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.8113 p.T2705P 0.940 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 53 0 0 31 20 39.2157 RINT1 0 genome.wustl.edu 37 7 105190918 105190918 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 105190918 105190918 A T SNP RINT1 ENST00000257700 human ensembl 74_37 +1 known missense c.1318 p.T440S 1.000 pfam_RINT1_TIP1 pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 121 0 0 78 58 42.6471 PIK3CG 0 genome.wustl.edu 37 7 106508552 106508552 + Silent SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 106508552 106508552 C A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known silent c.546 p.T182 0.010 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 71 0 0 81 11 11.9565 PIK3CG 0 genome.wustl.edu 37 7 106508565 106508565 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 106508565 106508565 G C SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.559 p.E187Q 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 84 0 0 99 12 10.8108 LAMB1 0 genome.wustl.edu 37 7 107572745 107572745 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 107572745 107572745 C T SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known silent c.4266 p.E1422 0.170 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 151 1 0.657895 79 78 49.6815 PTPRZ1 0 genome.wustl.edu 37 7 121695088 121695088 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 121695088 121695088 C G SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.6475 p.L2159V 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 57 0 0 31 22 41.5094 CHRM2 0 genome.wustl.edu 37 7 136699890 136699890 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 136699890 136699890 C T SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.278 p.P93L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 201 0 0 75 70 48.2759 EPHB6 0 genome.wustl.edu 37 7 142567977 142567977 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 142567977 142567977 C A SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.2618 p.A873E 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 400 0 0 207 175 45.8115 VIPR2 0 genome.wustl.edu 37 7 158826913 158826913 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 158826913 158826913 G A SNP VIPR2 ENST00000262178 human ensembl 74_37 -1 known missense c.962 p.S321F 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR2 HGNC ENSG00000106018 54 0 0 49 12 19.6721 OSBPL3 0 genome.wustl.edu 37 7 24849541 24849541 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 24849541 24849541 C T SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known silent c.2202 p.E734 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 196 0 0 86 61 41.4966 INMT 0 genome.wustl.edu 37 7 30795287 30795287 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 30795287 30795287 C T SNP INMT ENST00000013222 human ensembl 74_37 +1 known silent c.612 p.Y204 0.999 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 82 0 0 73 15 17.0455 AMPH 0 genome.wustl.edu 37 7 38433793 38433793 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 38433793 38433793 C T SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.1420 p.D474N 0.009 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 65 0 0 47 28 37.3333 INHBA 0 genome.wustl.edu 37 7 41739888 41739888 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 41739888 41739888 G A SNP INHBA ENST00000242208 human ensembl 74_37 -1 known missense c.85 p.H29Y 0.983 prints_Inhibin_betaA pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 339 0 0 184 145 44.0729 SDK1 0 genome.wustl.edu 37 7 4277373 4277373 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 4277373 4277373 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.6087 p.L2029 0.981 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 102 0 0 75 45 37.5 AEBP1 0 genome.wustl.edu 37 7 44150787 44150787 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 44150787 44150787 G A SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known silent c.1665 p.V555 0.046 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 57 0 0 31 10 24.3902 HGF 0 genome.wustl.edu 37 7 81386587 81386587 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 81386587 81386587 G A SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.400 p.R134C 0.988 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 50 0 0 43 8 15.6863 HGF 0 genome.wustl.edu 37 7 81388061 81388061 + Nonsense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 81388061 81388061 G T SNP HGF ENST00000222390 human ensembl 74_37 -1 known nonsense c.314 p.S105* 1.000 pfam_PAN-1_domain,superfamily_Kringle-like,smart_Pan_app,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 108 0 0 57 15 20.8333 PCLO 0 genome.wustl.edu 37 7 82545485 82545485 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 82545485 82545485 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11817 p.Q3939H 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 379 1 0.263158 183 144 44.0367 AKAP9 0 genome.wustl.edu 37 7 91708840 91708840 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 91708840 91708840 C G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.7429 p.L2477V 0.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 90 0 0 65 16 19.7531 HEPACAM2 0 genome.wustl.edu 37 7 92844979 92844979 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 92844979 92844979 C T SNP HEPACAM2 ENST00000394468 human ensembl 74_37 -1 known silent c.450 p.V150 0.584 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM2 HGNC ENSG00000188175 51 0 0 43 8 15.6863 COL1A2 0 genome.wustl.edu 37 7 94052403 94052403 + Missense_Mutation SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 94052403 94052403 G T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.2538 p.K846N 0.998 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 82 0 0 83 16 16.1616 PPP1R9A 0 genome.wustl.edu 37 7 94913575 94913575 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 94913575 94913575 C T SNP PPP1R9A ENST00000433360 human ensembl 74_37 +1 novel missense c.3542 p.P1181L 0.018 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 17 0 0 13 3 18.75 PON1 0 genome.wustl.edu 37 7 95023958 95023958 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 7 95023958 95023958 A C SNP PON1 ENST00000542556 human ensembl 74_37 -1 known missense c.143 p.L48R 0.806 prints_Arylesterase pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 72 0 0 32 37 53.6232 VPS13B 0 genome.wustl.edu 37 8 100523647 100523647 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 100523647 100523647 C G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.4615 p.L1539V 0.530 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 35 0 0 29 7 19.4444 LRP12 0 genome.wustl.edu 37 8 105509379 105509379 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 105509379 105509379 A C SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1344 p.S448R 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 112 0 0 46 52 53.0612 SOX7 0 genome.wustl.edu 37 8 10584032 10584032 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 10584032 10584032 C T SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known missense c.539 p.R180H 1.000 NULL pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 67 0 0 5 38 88.3721 CSMD3 0 genome.wustl.edu 37 8 113347685 113347685 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 113347685 113347685 A C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.7038 p.N2346K 0.996 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 44 0 0 20 21 51.2195 DLC1 0 genome.wustl.edu 37 8 12958192 12958192 + Missense_Mutation SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 12958192 12958192 C G SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.1654 p.E552Q 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 65 0 0 19 13 40.625 ADCY8 0 genome.wustl.edu 37 8 131792852 131792852 + Silent SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 131792852 131792852 G T SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.3540 p.I1180 0.988 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 124 0 0 81 28 25.6881 SGCZ 0 genome.wustl.edu 37 8 13948096 13948096 + Silent SNP G G T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 13948096 13948096 G T SNP SGCZ ENST00000382080 human ensembl 74_37 -1 known silent c.795 p.S265 0.601 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 79 0 0 33 15 31.25 TRAPPC9 0 genome.wustl.edu 37 8 141293997 141293997 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 141293997 141293997 G A SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.2399 p.S800F 0.986 pfam_TRAPP_II_complex_Trs120 pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 76 0 0 63 43 40.566 SDAD1P1 0 genome.wustl.edu 37 8 26237947 26237947 + RNA SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 26237947 26237947 G A SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors SDAD1P1 HGNC ENSG00000228451 55 0 0 13 9 40.9091 SCARA5 0 genome.wustl.edu 37 8 27762304 27762304 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 27762304 27762304 C T SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known missense c.1144 p.G382R 0.057 NULL pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 36 0 0 3 12 80 NUGGC 0 genome.wustl.edu 37 8 27925085 27925085 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 27925085 27925085 C T SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known silent c.657 p.A219 0.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 14 0 0 9 4 30.7692 KCNU1 0 genome.wustl.edu 37 8 36780117 36780117 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 36780117 36780117 C T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known silent c.2706 p.S902 0.036 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 45 0 0 85 8 8.60215 RAB11FIP1 0 genome.wustl.edu 37 8 37756945 37756945 + Silent SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 37756945 37756945 G C SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known silent c.15 p.V5 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 40 0 0 165 27 14.0625 PREX2 0 genome.wustl.edu 37 8 69011960 69011960 + Missense_Mutation SNP A A C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 8 69011960 69011960 A C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2597 p.N866T 1.000 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 109 0 0 37 40 51.9481 COL27A1 0 genome.wustl.edu 37 9 116930114 116930114 + Silent SNP C C G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 116930114 116930114 C G SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known silent c.279 p.A93 0.142 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 148 0 0 138 29 17.3653 GARNL3 0 genome.wustl.edu 37 9 130073920 130073920 + Missense_Mutation SNP A A T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 130073920 130073920 A T SNP GARNL3 ENST00000429629 human ensembl 74_37 +1 known missense c.224 p.Q75L 0.724 NULL NULL - no_errors GARNL3 HGNC ENSG00000136895 84 0 0 44 36 45 CERCAM 0 genome.wustl.edu 37 9 131198095 131198095 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 131198095 131198095 G A SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known missense c.1699 p.G567S 1.000 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 27 0 0 19 11 36.6667 KCNT1 0 genome.wustl.edu 37 9 138606523 138606523 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 138606523 138606523 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.211 p.R71W 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 26 0 0 12 20 62.5 SPATA31D5P 0 genome.wustl.edu 37 9 84531399 84531399 + RNA SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 84531399 84531399 G C SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 10 0 0 2 4 66.6667 ROR2 0 genome.wustl.edu 37 9 94499750 94499750 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 9 94499750 94499750 C T SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.545 p.C182Y 1.000 pirsf_Tyr_kinase_rcpt_ROR,pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 84 0 0 69 40 36.6972 RPL36A 0 genome.wustl.edu 37 X 100646541 100646541 + Missense_Mutation SNP T T A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 100646541 100646541 T A SNP RPL36A ENST00000427805 human ensembl 74_37 +1 known missense c.206 p.L69Q 0.999 pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd - no_errors RPL36A HGNC ENSG00000241343 63 0 0 5 64 92.7536 NRK 0 genome.wustl.edu 37 X 105193681 105193681 + Missense_Mutation SNP T T G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 105193681 105193681 T G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.4471 p.F1491V 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 18 0 0 2 11 84.6154 AMELX 0 genome.wustl.edu 37 X 11316866 11316866 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 11316866 11316866 C T SNP AMELX ENST00000380712 human ensembl 74_37 +1 known missense c.385 p.H129Y 1.000 pfam_Amelogenin,smart_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC ENSG00000125363 68 0 0 38 27 41.5385 STAG2 0 genome.wustl.edu 37 X 123220423 123220423 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 123220423 123220423 C A SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known missense c.3080 p.T1027N 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 46 0 0 43 10 18.8679 DCAF12L1 0 genome.wustl.edu 37 X 125686265 125686265 + Missense_Mutation SNP C C A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 125686265 125686265 C A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.327 p.R109S 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 51 0 0 3 33 91.6667 SPRY3 0 genome.wustl.edu 37 X 155003813 155003813 + Missense_Mutation SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 155003813 155003813 G A SNP SPRY3 ENST00000302805 human ensembl 74_37 +1 known missense c.280 p.A94T 0.983 NULL pfam_Sprouty - no_errors SPRY3 HGNC ENSG00000168939 151 0 0 55 22 28.5714 YY2 0 genome.wustl.edu 37 X 21874728 21874728 + Silent SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 21874728 21874728 C T SNP YY2 ENST00000429584 human ensembl 74_37 +1 known silent c.126 p.Y42 0.012 pirsf_TF_Yin_yang smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY2 HGNC ENSG00000230797 73 0 0 7 47 87.037 STARD8 0 genome.wustl.edu 37 X 67936225 67936225 + Missense_Mutation SNP G G C TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 67936225 67936225 G C SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.249 p.L83F 0.991 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 24 0 0 2 20 90.9091 TAF1 0 genome.wustl.edu 37 X 70627998 70627998 + Missense_Mutation SNP A A G TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 70627998 70627998 A G SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.4378 p.N1460D 1.000 pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 29 0 0 2 38 95 ABCB7 0 genome.wustl.edu 37 X 74289232 74289232 + Missense_Mutation SNP C C T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 74289232 74289232 C T SNP ABCB7 ENST00000253577 human ensembl 74_37 -1 known missense c.1426 p.D476N 1.000 superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,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 - no_errors ABCB7 HGNC ENSG00000131269 46 0 0 27 31 53.4483 PCDH19 0 genome.wustl.edu 37 X 99662960 99662960 + Silent SNP G G A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 99662960 99662960 G A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.636 p.D212 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 73 0 0 51 39 43.3333 FZD4 0 genome.wustl.edu 37 11 86662203 86662203 + Frame_Shift_Del DEL C C - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 11 86662203 86662203 C - DEL FZD4 ENST00000531380 human ensembl 74_37 -1 known frame_shift_del c.1595 p.G532fs 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 160 0 0 109 27 19.8529 OXA1L 0 genome.wustl.edu 37 14 23239055 23239055 + Frame_Shift_Del DEL G G - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 23239055 23239055 G - DEL OXA1L ENST00000285848 human ensembl 74_37 +1 known frame_shift_del c.675 p.A226fs 1.000 pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C - no_errors OXA1L HGNC ENSG00000155463 504 0 0 316 133 29.6214 SEC23A 0 genome.wustl.edu 37 14 39512065 39512067 + In_Frame_Del DEL AAG AAG - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 14 39512065 39512067 AAG - DEL SEC23A ENST00000307712 human ensembl 74_37 -1 known in_frame_del c.1911_1909 p.L637in_frame_del 1.000:1.000:1.000 pfam_Gelsolin_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 86 0 0 54 21 28 OTOP3 0 genome.wustl.edu 37 17 72937851 72937851 + Frame_Shift_Del DEL G G - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 17 72937851 72937851 G - DEL OTOP3 ENST00000328801 human ensembl 74_37 +1 known frame_shift_del c.437 p.R146fs 0.001 NULL pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 64 0 0 49 13 20.9677 SRBD1 0 genome.wustl.edu 37 2 45826841 45826841 + Frame_Shift_Del DEL T T - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 45826841 45826841 T - DEL SRBD1 ENST00000263736 human ensembl 74_37 -1 known frame_shift_del c.395 p.K132fs 0.969 NULL pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SRBD1 HGNC ENSG00000068784 246 0 0 193 19 8.96226 PCGF1 0 genome.wustl.edu 37 2 74734166 74734167 + Splice_Site DEL CA CA - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 74734166 74734167 CA - DEL PCGF1 ENST00000233630 human ensembl 74_37 -1 known splice_site_del c.199+2_199+1 e2+2 1.000:1.000 - - - no_errors PCGF1 HGNC ENSG00000115289 45 0 0 30 24 44.4444 RETSAT 0 genome.wustl.edu 37 2 85571742 85571742 + Frame_Shift_Del DEL A A - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 2 85571742 85571742 A - DEL RETSAT ENST00000295802 human ensembl 74_37 -1 known frame_shift_del c.1231 p.Y411fs 1.000 NULL pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 69 0 0 84 16 16 DRG1 0 genome.wustl.edu 37 22 31829850 31829859 + Frame_Shift_Del DEL CCATGCAGTG CCATGCAGTG - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 CCATGCAGTG CCATGCAGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 22 31829850 31829859 CCATGCAGTG - DEL DRG1 ENST00000331457 human ensembl 74_37 +1 known frame_shift_del c.1013_1006 p.F338fs 0.946:0.966:0.982:0.999:0.996:1.000:1.000:1.000:0.767:1.000 pfam_TGS,superfamily_TGS-like pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG1 HGNC ENSG00000185721 48 0 0 27 9 25 PBRM1 0 genome.wustl.edu 37 3 52643942 52643943 + Frame_Shift_Ins INS - - T TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 52643942 52643943 - T INS PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_ins c.1954_1953 p.S651fs 1.000:1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 117 0 0 84 20 19.2308 PBRM1 0 genome.wustl.edu 37 3 52678784 52678784 + Frame_Shift_Del DEL T T - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 3 52678784 52678784 T - DEL PBRM1 ENST00000296302 human ensembl 74_37 -1 known frame_shift_del c.835 p.I279fs 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 21 0 0 9 7 43.75 SEL1L3 0 genome.wustl.edu 37 4 25789889 25789892 + Frame_Shift_Del DEL TCCG TCCG - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 TCCG TCCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 4 25789889 25789892 TCCG - DEL SEL1L3 ENST00000399878 human ensembl 74_37 -1 known frame_shift_del c.2174_2171 p.T724fs 1.000:0.997:0.004:0.976 smart_Sel1-like pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 183 0 0 152 12 7.31707 HACE1 0 genome.wustl.edu 37 6 105198276 105198277 + Frame_Shift_Ins INS - - A TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 6 105198276 105198277 - A INS HACE1 ENST00000262903 human ensembl 74_37 -1 known frame_shift_ins c.2283_2282 p.L761fs 1.000:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 41 0 0 11 8 42.1053 GRIPAP1 0 genome.wustl.edu 37 X 48839408 48839420 + Frame_Shift_Del DEL GCCGTTCAAACCA GCCGTTCAAACCA - TCGA-IN-A6RO-01A-12D-A33T-08 TCGA-IN-A6RO-10A-01D-A33W-08 GCCGTTCAAACCA GCCGTTCAAACCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 15ba04dc-3a3a-4adc-b0c4-bee5f0d44908 d6adfc0b-eefa-4f84-9b48-1e8343b62564 X 48839408 48839420 GCCGTTCAAACCA - DEL GRIPAP1 ENST00000376441 human ensembl 74_37 -1 known frame_shift_del c.1582_1570 p.W524fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 36 0 0 5 15 75