#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABLIM3	22885	genome.wustl.edu	37	5	148590290	148590290	+	Splice_Site	SNP	G	G	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr5:148590290G>T	ENST00000506113.1	+	6	1059	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	ABLIM3_ENST00000508983.1_Splice_Site_p.D193Y|ABLIM3_ENST00000504238.1_Splice_Site_p.D193Y|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000309868.7_Splice_Site_p.D193Y|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Splice_Site_p.D193Y|ABLIM3_ENST00000356541.3_Splice_Site_p.D193Y			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	193	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTGCAGGGATGGTGTTCC	0.493																																						dbGAP											0													204.0	161.0	176.0					5																	148590290		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.576-1G>T	5.37:g.148590290G>T			A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.D193Y	ENST00000506113.1	37	c.577	CCDS4294.1	5	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619414	0.87460	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	6.07	6.07	0.98685	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	H	0.95884	3.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.999;0.983	D	0.97562	1.0099	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	193;193;193	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	Y	193	ENSP00000315841:D193Y;ENSP00000348938:D193Y;ENSP00000310309:D193Y;ENSP00000425394:D193Y;ENSP00000421183:D193Y;ENSP00000420855:D193Y	ENSP00000310309:D193Y	D	+	1	0	ABLIM3	148570483	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	9.784000	0.99039	2.884000	0.98904	0.655000	0.94253	GAT	ABLIM3	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000173210		0.493	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	HGNC	protein_coding	OTTHUMT00000373435.1	339	0.00	0	G	NM_014945	Missense_Mutation	148590290	148590290	+1	no_errors	ENST00000309868	ensembl	human	known	69_37n	missense	181	20.26	46	SNP	1.000	T
ARMC6	93436	genome.wustl.edu	37	19	19162851	19162851	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr19:19162851C>G	ENST00000535612.1	+	5	1132	c.700C>G	c.(700-702)Cac>Gac	p.H234D	ARMC6_ENST00000546344.1_Missense_Mutation_p.H141D|ARMC6_ENST00000392335.2_Missense_Mutation_p.H209D|ARMC6_ENST00000392336.3_Missense_Mutation_p.H234D|ARMC6_ENST00000269932.6_Missense_Mutation_p.H209D	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	234					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCATCATGGCCACCACACTGA	0.587																																						dbGAP											0													91.0	53.0	66.0					19																	19162851		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.700C>G	19.37:g.19162851C>G	ENSP00000444156:p.His234Asp		B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.H234D	ENST00000535612.1	37	c.700	CCDS56089.1	19	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.955799	0.00470	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000537263;ENST00000269932;ENST00000546344;ENST00000541898;ENST00000535288;ENST00000545190;ENST00000379532;ENST00000392336	T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.32	-0.0681	0.13757	Armadillo-like helical (1);Armadillo-type fold (1);	1.511050	0.03189	N	0.173155	T	0.31071	0.0785	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30650	-0.9971	10	0.10636	T	0.68	-5.4969	1.9752	0.03415	0.1252:0.3742:0.2732:0.2274	.	234	Q6NXE6	ARMC6_HUMAN	D	209;234;209;209;141;209;141;145;145;234	ENSP00000376147:H209D;ENSP00000444156:H234D;ENSP00000441948:H209D;ENSP00000269932:H209D;ENSP00000444341:H141D;ENSP00000446037:H209D;ENSP00000437580:H141D;ENSP00000376148:H234D	ENSP00000269932:H209D	H	+	1	0	ARMC6	19023851	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.842000	0.04354	0.198000	0.20407	0.561000	0.74099	CAC	ARMC6	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000105676		0.587	ARMC6-001	KNOWN	basic|CCDS	protein_coding	ARMC6	HGNC	protein_coding	OTTHUMT00000403226.1	45	0.00	0	C	NM_033415		19162851	19162851	+1	no_errors	ENST00000392336	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	0.000	G
ATHL1	80162	genome.wustl.edu	37	11	289954	289954	+	Silent	SNP	C	C	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr11:289954C>T	ENST00000409548.2	+	2	253	c.138C>T	c.(136-138)taC>taT	p.Y46Y	RP11-326C3.2_ENST00000533924.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA|ATHL1_ENST00000409655.1_5'UTR|ATHL1_ENST00000409479.1_Silent_p.Y46Y|RP11-326C3.2_ENST00000525217.1_RNA	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	46					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCGGCGTGTACAATGGGGCTG	0.672																																						dbGAP											0													50.0	55.0	54.0					11																	289954		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.138C>T	11.37:g.289954C>T			Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	NULL	p.T12I	ENST00000409548.2	37	c.35	CCDS31322.2	11																																																																																			ATHL1	-	NULL	ENSG00000142102		0.672	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	36	0.00	0	C	NM_025092		289954	289954	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000482937	ensembl	human	known	69_37n	missense	20	33.33	10	SNP	1.000	T
ATXN2	6311	genome.wustl.edu	37	12	111951217	111951217	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr12:111951217G>C	ENST00000377617.3	-	11	2143	c.1982C>G	c.(1981-1983)cCt>cGt	p.P661R	ATXN2_ENST00000389153.4_Missense_Mutation_p.P396R|ATXN2_ENST00000535949.1_Missense_Mutation_p.P372R|ATXN2_ENST00000542287.2_Missense_Mutation_p.P396R|ATXN2_ENST00000550104.1_Missense_Mutation_p.P661R|ATXN2_ENST00000608853.1_Missense_Mutation_p.P501R	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	661	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGCTACTGGAGGAGTAGCTGC	0.517																																						dbGAP											0													112.0	94.0	100.0					12																	111951217		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1982C>G	12.37:g.111951217G>C	ENSP00000366843:p.Pro661Arg		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.P661R	ENST00000377617.3	37	c.1982	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637167	0.67130	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000492467;ENST00000550236	T;T	0.67171	-0.18;-0.25	5.34	5.34	0.76211	.	0.274256	0.42172	D	0.000750	T	0.49270	0.1547	N	0.19112	0.55	0.43632	D	0.996025	B;P;B;B	0.41947	0.099;0.766;0.041;0.383	B;B;B;B	0.34038	0.082;0.174;0.034;0.143	T	0.58267	-0.7666	10	0.62326	D	0.03	-5.1472	14.2604	0.66080	0.0:0.0:0.851:0.149	.	396;661;372;396	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	R	396;661;661;396;372;51;76	ENSP00000366843:P661R;ENSP00000446576:P661R	ENSP00000366843:P661R	P	-	2	0	ATXN2	110435600	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.166000	0.71896	2.650000	0.89964	0.650000	0.86243	CCT	ATXN2	-	NULL	ENSG00000204842		0.517	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	320	0.00	0	G	NM_002973		111951217	111951217	-1	no_errors	ENST00000377617	ensembl	human	known	69_37n	missense	128	45.53	107	SNP	0.998	C
CALD1	800	genome.wustl.edu	37	7	134613541	134613541	+	Silent	SNP	G	G	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr7:134613541G>A	ENST00000361675.2	+	4	337	c.108G>A	c.(106-108)gaG>gaA	p.E36E	CALD1_ENST00000495522.1_Silent_p.E30E|CALD1_ENST00000361388.2_Silent_p.E36E|CALD1_ENST00000417172.1_Silent_p.E36E|CALD1_ENST00000361901.2_Silent_p.E36E|CALD1_ENST00000422748.1_Silent_p.E36E|CALD1_ENST00000543443.1_Silent_p.E41E|CALD1_ENST00000424922.1_Silent_p.E30E|CALD1_ENST00000393118.2_Silent_p.E30E			Q05682	CALD1_HUMAN	caldesmon 1	36	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ATGAAGAGGAGGCAGCCCGGG	0.582																																						dbGAP											0													54.0	50.0	52.0					7																	134613541		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.108G>A	7.37:g.134613541G>A			A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	pfam_Caldesmon_LSP,prints_Caldesmon	p.E36	ENST00000361675.2	37	c.108	CCDS5835.1	7																																																																																			CALD1	-	pfam_Caldesmon_LSP	ENSG00000122786		0.582	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1	69	0.00	0	G	NM_033138		134613541	134613541	+1	no_errors	ENST00000361388	ensembl	human	known	69_37n	silent	53	18.46	12	SNP	1.000	A
CIC	23152	genome.wustl.edu	37	19	42799050	42799050	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr19:42799050C>T	ENST00000575354.2	+	20	4574	c.4534C>T	c.(4534-4536)Cgt>Tgt	p.R1512C	CIC_ENST00000572681.2_Missense_Mutation_p.R2418C|CIC_ENST00000160740.3_Missense_Mutation_p.R1510C	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTTGAAGATCCGTGAGGTGCG	0.632			"""Mis, F, S"""		oligodendroglioma																																	dbGAP		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													52.0	52.0	52.0					19																	42799050		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4534C>T	19.37:g.42799050C>T	ENSP00000458663:p.Arg1512Cys		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R1512C	ENST00000575354.2	37	c.4534	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237260	0.58886	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	3.37	0.38596	.	.	.	.	.	T	0.62901	0.2466	L	0.29908	0.895	0.52099	D	0.999944	D	0.89917	1.0	D	0.76575	0.988	T	0.65496	-0.6154	8	0.87932	D	0	-6.0224	11.7222	0.51689	0.1768:0.8232:0.0:0.0	.	1512	Q96RK0	CIC_HUMAN	C	1512	.	ENSP00000160740:R1512C	R	+	1	0	CIC	47490890	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.911000	0.48774	2.513000	0.84729	0.491000	0.48974	CGT	CIC	-	NULL	ENSG00000079432		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	73	0.00	0	C			42799050	42799050	+1	no_errors	ENST00000160740	ensembl	human	known	69_37n	missense	19	55.81	24	SNP	1.000	T
COL4A6	1288	genome.wustl.edu	37	X	107412746	107412746	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chrX:107412746T>C	ENST00000372216.4	-	37	3773	c.3673A>G	c.(3673-3675)Aga>Gga	p.R1225G	COL4A6_ENST00000545689.1_Missense_Mutation_p.R1200G|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1225G|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1200G|COL4A6_ENST00000334504.7_Missense_Mutation_p.R1224G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1225	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTTTGCCCTCTCAGGCCCGGC	0.572									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	dbGAP											0													92.0	62.0	72.0					X																	107412746		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3673A>G	X.37:g.107412746T>C	ENSP00000361290:p.Arg1225Gly		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R1225G	ENST00000372216.4	37	c.3673	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454220	0.43634	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93763	-3.25;-3.25;-3.25;-3.28;-3.22	4.42	4.42	0.53409	.	1.096630	0.07110	N	0.841985	D	0.94118	0.8114	L	0.54863	1.705	0.09310	N	1	D;P;D;D	0.57257	0.974;0.936;0.979;0.974	P;P;P;P	0.51615	0.546;0.448;0.675;0.546	D	0.85733	0.1332	10	0.62326	D	0.03	.	12.1696	0.54150	0.0:0.0:0.0:1.0	.	1200;1200;1225;1224	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	G	1225;1224;1225;1224;1200;1200	ENSP00000361290:R1225G;ENSP00000334733:R1224G;ENSP00000378340:R1225G;ENSP00000443707:R1200G;ENSP00000445236:R1200G	ENSP00000334733:R1224G	R	-	1	2	COL4A6	107299402	0.327000	0.24678	0.009000	0.14445	0.005000	0.04900	2.921000	0.48852	1.706000	0.51276	0.417000	0.27973	AGA	COL4A6	-	pfam_Collagen	ENSG00000197565		0.572	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	110	0.00	0	T			107412746	107412746	-1	no_errors	ENST00000372216	ensembl	human	known	69_37n	missense	97	19.17	23	SNP	0.027	C
EPG5	57724	genome.wustl.edu	37	18	43503333	43503333	+	Silent	SNP	T	T	C			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr18:43503333T>C	ENST00000282041.5	-	15	2773	c.2739A>G	c.(2737-2739)caA>caG	p.Q913Q		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	913					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CATGGACTGCTTGATCCAGAT	0.383																																						dbGAP											0													74.0	66.0	69.0					18																	43503333		1844	4093	5937	-	-	-	SO:0001819	synonymous_variant	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.2739A>G	18.37:g.43503333T>C			A2BDF3|Q9H8C8	Silent	SNP	NULL	p.Q913	ENST00000282041.5	37	c.2739	CCDS11926.2	18																																																																																			EPG5	-	NULL	ENSG00000152223		0.383	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	143	0.00	0	T	NM_020964		43503333	43503333	-1	no_errors	ENST00000282041	ensembl	human	known	69_37n	silent	99	11.61	13	SNP	0.575	C
FGF23	8074	genome.wustl.edu	37	12	4479664	4479664	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr12:4479664G>A	ENST00000237837.1	-	3	746	c.601C>T	c.(601-603)Ccg>Tcg	p.P201S		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	201					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			GCCGGGGCCGGGGTCATCCGG	0.692																																						dbGAP											0													16.0	20.0	19.0					12																	4479664		2198	4289	6487	-	-	-	SO:0001583	missense	0			AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.601C>T	12.37:g.4479664G>A	ENSP00000237837:p.Pro201Ser		Q4V758	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.P201S	ENST00000237837.1	37	c.601	CCDS8526.1	12	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690617	0.29962	.	.	ENSG00000118972	ENST00000237837	D	0.89810	-2.57	4.84	3.92	0.45320	.	0.392664	0.29616	N	0.011648	D	0.84211	0.5422	L	0.32530	0.975	0.09310	N	1	P	0.51057	0.941	P	0.46796	0.527	T	0.77286	-0.2644	10	0.87932	D	0	-17.0653	7.8297	0.29336	0.0:0.1659:0.6355:0.1985	.	201	Q9GZV9	FGF23_HUMAN	S	201	ENSP00000237837:P201S	ENSP00000237837:P201S	P	-	1	0	FGF23	4349925	0.209000	0.23505	0.009000	0.14445	0.022000	0.10575	1.130000	0.31393	1.194000	0.43101	0.549000	0.68633	CCG	FGF23	-	NULL	ENSG00000118972		0.692	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF23	HGNC	protein_coding	OTTHUMT00000398936.1	39	0.00	0	G			4479664	4479664	-1	no_errors	ENST00000237837	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	0.005	A
FMN1	342184	genome.wustl.edu	37	15	33359773	33359773	+	Intron	SNP	C	C	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr15:33359773C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000559150.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.E105K|FMN1_ENST00000334528.9_Missense_Mutation_p.E105K			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGACTTCCCTCTGATTCTGTC	0.483																																						dbGAP											0													88.0	87.0	87.0					15																	33359773		1936	4158	6094	-	-	-	SO:0001627	intron_variant	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2498G>A	15.37:g.33359773C>T			Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,prints_Formin	p.E105K	ENST00000559047.1	37	c.313		15	.	.	.	.	.	.	.	.	.	.	c	12.88	2.070599	0.36566	.	.	ENSG00000248905	ENST00000334528	T	0.42513	0.97	5.44	1.46	0.22682	.	.	.	.	.	T	0.27134	0.0665	.	.	.	.	.	.	B;B	0.24368	0.102;0.015	B;B	0.23275	0.045;0.009	T	0.29822	-0.9999	7	0.24483	T	0.36	.	9.413	0.38503	0.0:0.7068:0.0:0.2932	.	105;105	Q68DA7-3;Q68DA7-5	.;.	K	105	ENSP00000333950:E105K	ENSP00000333950:E105K	E	-	1	0	FMN1	31147065	0.009000	0.17119	0.001000	0.08648	0.837000	0.47467	0.620000	0.24403	0.278000	0.22164	-0.119000	0.15052	GAG	FMN1	-	NULL	ENSG00000248905		0.483	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	102	0.00	0	C	NM_001103184		33359773	33359773	-1	no_errors	ENST00000334528	ensembl	human	known	69_37n	missense	54	15.62	10	SNP	0.014	T
GATA3	2625	genome.wustl.edu	37	10	8115876	8115877	+	Frame_Shift_Ins	INS	-	-	G			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr10:8115876_8115877insG	ENST00000346208.3	+	6	1677_1678	c.1222_1223insG	c.(1222-1224)cccfs	p.P408fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.P409fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	408					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P409fs*>37(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCACATCTCGCCCTTCAGCCAC	0.614			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	Exception_encountered	10.37:g.8115876_8115877insG	ENSP00000341619:p.Pro408fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P409fs	ENST00000346208.3	37	c.1225_1226	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.614	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	215	0.00	0	-	NM_001002295		8115876	8115877	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	125	23.31	38	INS	1.000:0.998	G
GATA3	2625	genome.wustl.edu	37	10	8115877	8115877	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr10:8115877C>A	ENST00000346208.3	+	6	1678	c.1223C>A	c.(1222-1224)cCc>cAc	p.P408H	GATA3_ENST00000379328.3_Missense_Mutation_p.P409H|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	408					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CACATCTCGCCCTTCAGCCAC	0.612			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													95.0	87.0	89.0					10																	8115877		2203	4300	6503	-	-	-	SO:0001583	missense	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1223C>A	10.37:g.8115877C>A	ENSP00000341619:p.Pro408His		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P409H	ENST00000346208.3	37	c.1226	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512662	0.64522	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96716	-4.1;-4.08	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000001	D	0.97167	0.9074	L	0.44542	1.39	0.80722	D	1	B;D	0.89917	0.331;1.0	B;D	0.74348	0.159;0.983	D	0.98039	1.0381	10	0.72032	D	0.01	-24.4691	18.8714	0.92317	0.0:1.0:0.0:0.0	.	408;409	P23771;P23771-2	GATA3_HUMAN;.	H	409;408	ENSP00000368632:P409H;ENSP00000341619:P408H	ENSP00000341619:P408H	P	+	2	0	GATA3	8155883	1.000000	0.71417	0.648000	0.29521	0.995000	0.86356	5.920000	0.70017	2.447000	0.82792	0.462000	0.41574	CCC	GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.612	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	213	0.00	0	C	NM_001002295		8115877	8115877	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	missense	124	23.64	39	SNP	0.998	A
ICA1	3382	genome.wustl.edu	37	7	8167582	8167583	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr7:8167582_8167583delGG	ENST00000402384.3	-	13	1516_1517	c.1250_1251delCC	c.(1249-1251)cccfs	p.P417fs	ICA1_ENST00000265577.7_Frame_Shift_Del_p.P416fs|ICA1_ENST00000406470.2_Frame_Shift_Del_p.P417fs|ICA1_ENST00000396675.3_Frame_Shift_Del_p.P417fs|ICA1_ENST00000422063.2_Frame_Shift_Del_p.P446fs|ICA1_ENST00000401396.1_Frame_Shift_Del_p.P405fs			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	417					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCTGGGCCTTGGGGTCTGGCTC	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1250_1251delCC	7.37:g.8167584_8167585delGG	ENSP00000385570:p.Pro417fs		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Frame_Shift_Del	DEL	pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom	p.P446fs	ENST00000402384.3	37	c.1338_1337	CCDS34602.1	7																																																																																			ICA1	-	pfam_Islet_autoAg_Ica1_C	ENSG00000003147		0.550	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	183	0.00	0	GG	NM_004968		8167582	8167583	-1	no_errors	ENST00000422063	ensembl	human	known	69_37n	frame_shift_del	111	22.76	33	DEL	0.061:0.144	-
IGKV3D-15	28875	genome.wustl.edu	37	2	90154236	90154236	+	RNA	SNP	G	G	C			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr2:90154236G>C	ENST00000417279.2	+	0	372									immunoglobulin kappa variable 3D-15 (gene/pseudogene)																		GTTTATTACTGTCAGCAGTAT	0.463																																						dbGAP											0													5.0	5.0	5.0					2																	90154236		1707	3872	5579	-	-	-			0			X72815		2p11.2	2012-02-08	2008-09-12		ENSG00000224041	ENSG00000224041		"""Immunoglobulins / IGK locus"""	5824	other	immunoglobulin gene			"""immunoglobulin kappa variable 3D-15"""				Standard	NG_000833		Approved				OTTHUMG00000151568		2.37:g.90154236G>C				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.C108S	ENST00000417279.2	37	c.323		2																																																																																			IGKV3D-15	-	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000224041		0.463	IGKV3D-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3D-15	HGNC	IG_V_gene	OTTHUMT00000323143.2	180	0.00	0	G	NG_000833		90154236	90154236	+1	no_stop_codon	ENST00000417279	ensembl	human	known	69_37n	missense	131	16.03	25	SNP	0.996	C
KIDINS220	57498	genome.wustl.edu	37	2	8926362	8926362	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr2:8926362C>A	ENST00000256707.3	-	16	2094	c.1913G>T	c.(1912-1914)cGa>cTa	p.R638L	KIDINS220_ENST00000427284.1_Missense_Mutation_p.R638L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R596L|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R639L|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R638L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	638	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTGAATACTCGAAAAAGCCT	0.438																																						dbGAP											0													140.0	131.0	134.0					2																	8926362		1847	4094	5941	-	-	-	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1913G>T	2.37:g.8926362C>A	ENSP00000256707:p.Arg638Leu		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R638L	ENST00000256707.3	37	c.1913	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.482202	0.96307	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	6.07	6.07	0.98685	KAP P-loop (1);	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.999;1.0	T	0.64415	-0.6413	10	0.72032	D	0.01	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	639;639;596;638	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	L	385;322;638;638;596;638;639;639	ENSP00000420364:R385L;ENSP00000256707:R638L;ENSP00000411849:R638L;ENSP00000414923:R596L;ENSP00000418974:R638L;ENSP00000419964:R639L;ENSP00000319947:R639L	ENSP00000256707:R638L	R	-	2	0	KIDINS220	8843813	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.760000	0.85248	2.885000	0.99019	0.655000	0.94253	CGA	KIDINS220	-	pfam_KAP_NTPase	ENSG00000134313		0.438	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	98	0.00	0	C	NM_020738		8926362	8926362	-1	no_errors	ENST00000256707	ensembl	human	known	69_37n	missense	69	28.12	27	SNP	1.000	A
KCNJ3	3760	genome.wustl.edu	37	2	155711277	155711277	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr2:155711277G>T	ENST00000295101.2	+	3	1435	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	KCNJ3_ENST00000544049.1_3'UTR|KCNJ3_ENST00000493505.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	320					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TACTGAAGATGAAGTTCTTTG	0.378																																						dbGAP											0													132.0	133.0	133.0					2																	155711277		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.958G>T	2.37:g.155711277G>T	ENSP00000295101:p.Glu320*		B4DEW7|Q8TBI0	Nonsense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir_Cr2	p.E320*	ENST00000295101.2	37	c.958	CCDS2200.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.693708	0.98438	.	.	ENSG00000162989	ENST00000295101	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.8359	0.92162	0.0:0.0:1.0:0.0	.	.	.	.	X	320	.	ENSP00000295101:E320X	E	+	1	0	KCNJ3	155419523	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.704000	0.92352	0.650000	0.86243	GAA	KCNJ3	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2	ENSG00000162989		0.378	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ3	HGNC	protein_coding	OTTHUMT00000254890.2	359	0.00	0	G	NM_002239		155711277	155711277	+1	no_errors	ENST00000295101	ensembl	human	known	69_37n	nonsense	238	12.50	34	SNP	1.000	T
KIF14	9928	genome.wustl.edu	37	1	200587127	200587128	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr1:200587127_200587128delCT	ENST00000367350.4	-	2	1162_1163	c.724_725delAG	c.(724-726)agcfs	p.S242fs		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	242	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATCCAACTTGCTCTGAGTAGGT	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.724_725delAG	1.37:g.200587129_200587130delCT	ENSP00000356319:p.Ser242fs		Q14CI8|Q4G0A5|Q5T1W3	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S242fs	ENST00000367350.4	37	c.725_724	CCDS30963.1	1																																																																																			KIF14	-	NULL	ENSG00000118193		0.376	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	233	0.00	0	CT	NM_014875		200587127	200587128	-1	no_errors	ENST00000367350	ensembl	human	known	69_37n	frame_shift_del	268	15.09	48	DEL	0.002:0.080	-
KRT72	140807	genome.wustl.edu	37	12	52981585	52981585	+	Silent	SNP	G	G	A	rs199978375	byFrequency	TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr12:52981585G>A	ENST00000537672.2	-	7	1150	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	KRT72_ENST00000398066.3_Silent_p.C192C|KRT72_ENST00000293745.2_Silent_p.C380C|KRT72_ENST00000354310.4_Silent_p.C338C	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	380	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CTTTCAGGGCGCAGTCCCCCC	0.637																																						dbGAP											0													54.0	52.0	53.0					12																	52981585		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1140C>T	12.37:g.52981585G>A			B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.C380	ENST00000537672.2	37	c.1140	CCDS8833.1	12																																																																																			KRT72	-	pfam_F,prints_Keratin_II	ENSG00000170486		0.637	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1	83	0.00	0	G	NM_080747		52981585	52981585	-1	no_errors	ENST00000293745	ensembl	human	known	69_37n	silent	62	27.91	24	SNP	0.004	A
LRRN3	54674	genome.wustl.edu	37	7	110763274	110763274	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr7:110763274A>G	ENST00000422987.3	+	2	1277	c.446A>G	c.(445-447)cAc>cGc	p.H149R	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.H149R|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.H149R|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	149					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TATATTAATCACAACTTGCTT	0.383																																						dbGAP											0													83.0	88.0	86.0					7																	110763274		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.446A>G	7.37:g.110763274A>G	ENSP00000412417:p.His149Arg		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.H149R	ENST00000422987.3	37	c.446	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511386	0.64522	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000009	T	0.62696	0.2449	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56038	-0.8045	10	0.16896	T	0.51	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	149	Q9H3W5	LRRN3_HUMAN	R	149	ENSP00000312001:H149R;ENSP00000397312:H149R;ENSP00000412417:H149R;ENSP00000407927:H149R	ENSP00000312001:H149R	H	+	2	0	LRRN3	110550510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	CAC	LRRN3	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000173114		0.383	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	185	0.00	0	A	NM_018334		110763274	110763274	+1	no_errors	ENST00000308478	ensembl	human	known	69_37n	missense	136	21.39	37	SNP	1.000	G
LY75	4065	genome.wustl.edu	37	2	160690697	160690697	+	Silent	SNP	T	T	C			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr2:160690697T>C	ENST00000263636.4	-	27	3726	c.3699A>G	c.(3697-3699)ccA>ccG	p.P1233P	LY75-CD302_ENST00000505052.1_Silent_p.P1233P|LY75_ENST00000553424.1_Silent_p.P1233P|LY75-CD302_ENST00000504764.1_Silent_p.P1233P|LY75_ENST00000554112.1_Silent_p.P1233P	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	1233					endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CACTGTCAACTGGTTTGACCT	0.338																																						dbGAP											0													108.0	104.0	105.0					2																	160690697		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.3699A>G	2.37:g.160690697T>C			O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	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	p.P1233	ENST00000263636.4	37	c.3699	CCDS2211.1	2																																																																																			LY75	-	NULL	ENSG00000054219		0.338	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	199	0.00	0	T			160690697	160690697	-1	no_errors	ENST00000554112	ensembl	human	known	69_37n	silent	125	28.57	50	SNP	0.619	C
MATN4	8785	genome.wustl.edu	37	20	43926557	43926557	+	Splice_Site	SNP	C	C	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr20:43926557C>T	ENST00000372754.1	-	8	1711		c.e8+1		MATN4_ENST00000353917.5_Splice_Site|MATN4_ENST00000372751.4_Splice_Site|MATN4_ENST00000537548.1_Splice_Site|MATN4_ENST00000360607.6_Splice_Site|MATN4_ENST00000372756.1_Splice_Site|MATN4_ENST00000342716.4_Splice_Site			O95460	MATN4_HUMAN	matrilin 4						extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GATGCGCTCACCTGGACAGAT	0.587																																						dbGAP											0													78.0	81.0	80.0					20																	43926557		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1702+1G>A	20.37:g.43926557C>T			A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Splice_Site	SNP	-	e8+1	ENST00000372754.1	37	c.1702+1		20	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644262	0.47258	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7456	0.91791	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MATN4	43359971	1.000000	0.71417	0.965000	0.40720	0.198000	0.23893	6.044000	0.71012	2.661000	0.90470	0.644000	0.83932	.	MATN4	-	-	ENSG00000124159		0.587	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	HGNC	protein_coding	OTTHUMT00000080335.1	68	0.00	0	C		Intron	43926557	43926557	-1	no_errors	ENST00000372754	ensembl	human	known	69_37n	splice_site	48	28.99	20	SNP	1.000	T
MND1	84057	genome.wustl.edu	37	4	154335914	154335914	+	Missense_Mutation	SNP	G	G	T	rs558905999		TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr4:154335914G>T	ENST00000240488.3	+	8	612	c.523G>T	c.(523-525)Gca>Tca	p.A175S		NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1			meiotic nuclear divisions 1 homolog (S. cerevisiae)											large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TAACATATTCGCAATAAAATC	0.249																																						dbGAP											0													26.0	28.0	28.0					4																	154335914		2162	4273	6435	-	-	-	SO:0001583	missense	0			AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000240488.3:c.523G>T	4.37:g.154335914G>T	ENSP00000240488:p.Ala175Ser			Missense_Mutation	SNP	pfam_Mnd1,pfam_Pencillinase_R,pirsf_Mnd1	p.A175S	ENST00000240488.3	37	c.523	CCDS3782.1	4	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254682	0.22965	.	.	ENSG00000121211	ENST00000240488	.	.	.	5.33	3.55	0.40652	.	0.205870	0.49916	D	0.000136	T	0.36026	0.0952	N	0.13168	0.305	0.80722	D	1	B	0.09022	0.002	B	0.16722	0.016	T	0.19031	-1.0318	9	0.05721	T	0.95	-10.2572	13.666	0.62396	0.0:0.0:0.7183:0.2817	.	175	Q9BWT6	MND1_HUMAN	S	175	.	ENSP00000240488:A175S	A	+	1	0	MND1	154555364	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.329000	0.33770	0.700000	0.31782	0.455000	0.32223	GCA	MND1	-	pfam_Mnd1,pirsf_Mnd1	ENSG00000121211		0.249	MND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MND1	HGNC	protein_coding	OTTHUMT00000365194.2	58	0.00	0	G	NM_032117		154335914	154335914	+1	no_errors	ENST00000240488	ensembl	human	known	69_37n	missense	64	14.67	11	SNP	1.000	T
MXRA5	25878	genome.wustl.edu	37	X	3238284	3238284	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chrX:3238284A>T	ENST00000217939.6	-	5	5596	c.5442T>A	c.(5440-5442)agT>agA	p.S1814R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1814						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGAGATAGAACTCTGGGTGG	0.507																																						dbGAP											0													80.0	78.0	79.0					X																	3238284		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5442T>A	X.37:g.3238284A>T	ENSP00000217939:p.Ser1814Arg		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S1814R	ENST00000217939.6	37	c.5442	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	A	7.444	0.641345	0.14451	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63096	-0.02	3.53	-1.18	0.09617	.	0.529047	0.15647	U	0.251613	T	0.30230	0.0758	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.09552	-1.0669	10	0.20046	T	0.44	.	2.0551	0.03579	0.2913:0.142:0.4397:0.1271	.	1814	Q9NR99	MXRA5_HUMAN	R	1814	ENSP00000217939:S1814R	ENSP00000217939:S1814R	S	-	3	2	MXRA5	3248284	0.000000	0.05858	0.006000	0.13384	0.037000	0.13140	0.195000	0.17155	-0.020000	0.14032	-0.457000	0.05445	AGT	MXRA5	-	NULL	ENSG00000101825		0.507	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	336	0.00	0	A	NM_015419		3238284	3238284	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	278	20.11	70	SNP	0.000	T
GATB	5188	genome.wustl.edu	37	4	152640617	152640617	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr4:152640617G>T	ENST00000515812.1	-	3	417	c.401C>A	c.(400-402)tCc>tAc	p.S134Y	PET112_ENST00000512306.1_Missense_Mutation_p.S134Y|PET112_ENST00000263985.6_Missense_Mutation_p.S134Y																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						GTCAAACAAGGACTTCTTGTT	0.517																																						dbGAP											0													210.0	182.0	191.0					4																	152640617		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000515812.1:c.401C>A	4.37:g.152640617G>T	ENSP00000426859:p.Ser134Tyr			Missense_Mutation	SNP	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,pfam_Asn/Gln_amidotransferase,superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Asn/Gln_amidotransferase,tigrfam_Gln-tRNA_amidoTrfase_bsu	p.S134Y	ENST00000515812.1	37	c.401		4	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904908	0.92035	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306	T;T;T	0.54675	0.56;0.58;0.64	5.66	5.66	0.87406	Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.84047	0.5386	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89700	0.3904	10	0.87932	D	0	-20.1489	19.7375	0.96212	0.0:0.0:1.0:0.0	.	134;134	D6RDU9;O75879	.;GATB_HUMAN	Y	134	ENSP00000263985:S134Y;ENSP00000426859:S134Y;ENSP00000420831:S134Y	ENSP00000263985:S134Y	S	-	2	0	PET112	152860067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.706000	0.98722	2.673000	0.90976	0.655000	0.94253	TCC	PET112	-	pfam_Asn/Gln-tRNA_Trfase_suB/E_cat,tigrfam_Gln-tRNA_amidoTrfase_bsu	ENSG00000059691		0.517	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	PET112	HGNC	protein_coding	OTTHUMT00000365672.1	416	0.00	0	G			152640617	152640617	-1	no_errors	ENST00000263985	ensembl	human	known	69_37n	missense	392	16.24	76	SNP	1.000	T
PIWIL1	9271	genome.wustl.edu	37	12	130827177	130827177	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr12:130827177G>A	ENST00000245255.3	+	2	313	c.41G>A	c.(40-42)cGc>cAc	p.R14H		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	14					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GGAAGGGCCCGCGGTCAGGAG	0.522																																						dbGAP											0													31.0	42.0	38.0					12																	130827177		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.41G>A	12.37:g.130827177G>A	ENSP00000245255:p.Arg14His		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.R14H	ENST00000245255.3	37	c.41	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517536	0.64634	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63	5.22	5.22	0.72569	.	0.128632	0.53938	D	0.000051	T	0.31009	0.0783	M	0.76838	2.35	0.51767	D	0.999932	D;D	0.64830	0.99;0.994	P;P	0.54965	0.765;0.653	T	0.02625	-1.1132	10	0.41790	T	0.15	-17.1728	14.2015	0.65707	0.0:0.1614:0.8386:0.0	.	14;14	Q96J94;Q96J94-2	PIWL1_HUMAN;.	H	14	ENSP00000245255:R14H;ENSP00000442086:R14H;ENSP00000440677:R14H;ENSP00000439096:R14H;ENSP00000444353:R14H;ENSP00000438582:R14H	ENSP00000245255:R14H	R	+	2	0	PIWIL1	129393130	1.000000	0.71417	0.082000	0.20525	0.963000	0.63663	5.925000	0.70062	2.421000	0.82119	0.655000	0.94253	CGC	PIWIL1	-	pfam_GAGE	ENSG00000125207		0.522	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	44	0.00	0	G			130827177	130827177	+1	no_errors	ENST00000245255	ensembl	human	known	69_37n	missense	29	31.82	14	SNP	0.917	A
PLCG1	5335	genome.wustl.edu	37	20	39792360	39792360	+	Silent	SNP	C	C	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr20:39792360C>A	ENST00000373271.1	+	10	1302	c.897C>A	c.(895-897)gtC>gtA	p.V299V	PLCG1_ENST00000244007.3_Silent_p.V299V|PLCG1_ENST00000373272.2_Silent_p.V299V	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	299					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GACAGTTTGTCACCTTCCTGT	0.532																																						dbGAP											0													137.0	136.0	136.0					20																	39792360		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.897C>A	20.37:g.39792360C>A			B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.V299	ENST00000373271.1	37	c.897	CCDS13314.1	20																																																																																			PLCG1	-	pfam_PLipase_C_EF-hand-like,pirsf_PLC-gamma	ENSG00000124181		0.532	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	172	0.00	0	C	NM_182811		39792360	39792360	+1	no_errors	ENST00000244007	ensembl	human	known	69_37n	silent	172	15.20	31	SNP	1.000	A
PMEL	6490	genome.wustl.edu	37	12	56349318	56349318	+	Silent	SNP	T	T	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr12:56349318T>A	ENST00000548747.1	-	9	2354	c.1692A>T	c.(1690-1692)acA>acT	p.T564T	PMEL_ENST00000548493.1_Silent_p.T564T|PMEL_ENST00000550447.1_Silent_p.T193T|PMEL_ENST00000548689.1_5'Flank|PMEL_ENST00000539511.1_Silent_p.T478T|PMEL_ENST00000360714.4_Silent_p.T564T|PMEL_ENST00000550464.1_Silent_p.T478T|PMEL_ENST00000449260.2_Silent_p.T564T|PMEL_ENST00000552882.1_Silent_p.T564T|PMEL_ENST00000536427.1_Silent_p.T522T			P40967	PMEL_HUMAN	premelanosome protein	564					melanin biosynthetic process (GO:0042438)|melanosome organization (GO:0032438)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGAGGCAGTATGTCCCCGAGC	0.607																																						dbGAP											0													66.0	63.0	64.0					12																	56349318		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092881	CCDS8897.1, CCDS55833.1, CCDS55834.1	12q13-q14	2010-12-17	2010-12-17	2010-12-17	ENSG00000185664	ENSG00000185664			10880	protein-coding gene	gene with protein product		155550	"""silver (mouse homolog) like"", ""silver homolog (mouse)"""	SIL, SILV		8739560	Standard	NM_001200053		Approved	D12S53E, SI, Pmel17, gp100	uc001siq.3	P40967		ENST00000548747.1:c.1692A>T	12.37:g.56349318T>A			B3KS57|B7Z6D7|Q12763|Q14448|Q14817|Q16565	Missense_Mutation	SNP	NULL	p.I84L	ENST00000548747.1	37	c.250	CCDS8897.1	12	.	.	.	.	.	.	.	.	.	.	T	5.387	0.256675	0.10185	.	.	ENSG00000185664	ENST00000549404	.	.	.	5.7	1.68	0.24146	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48937	-0.8990	4	.	.	.	-6.2945	8.8333	0.35098	0.0698:0.0:0.4045:0.5257	.	.	.	.	L	410	.	.	I	-	1	0	PMEL	54635585	0.996000	0.38824	0.990000	0.47175	0.932000	0.56968	0.381000	0.20619	0.100000	0.17581	-0.213000	0.12676	ATA	PMEL	-	NULL	ENSG00000185664		0.607	PMEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEL	HGNC	protein_coding	OTTHUMT00000409626.1	64	0.00	0	T	NM_006928		56349318	56349318	-1	no_start_codon	ENST00000549564	ensembl	human	known	69_37n	missense	64	55.48	81	SNP	0.973	A
PREX2	80243	genome.wustl.edu	37	8	69000006	69000006	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr8:69000006G>A	ENST00000288368.4	+	19	2352	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	692	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R692L(2)|p.R692Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCCAGATCCGGGGATTTGGC	0.458																																						dbGAP											4	Substitution - Missense(4)	lung(2)|endometrium(2)											200.0	188.0	192.0					8																	69000006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2075G>A	8.37:g.69000006G>A	ENSP00000288368:p.Arg692Gln		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	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	p.R692Q	ENST00000288368.4	37	c.2075	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.682134	0.96774	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.25579	1.79	5.56	5.56	0.83823	PDZ/DHR/GLGF (4);	0.071604	0.56097	D	0.000023	T	0.47192	0.1432	L	0.47716	1.5	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.72982	0.95;0.979;0.964	T	0.41016	-0.9532	10	0.87932	D	0	.	19.5256	0.95203	0.0:0.0:1.0:0.0	.	692;692;692	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Q	692	ENSP00000288368:R692Q	ENSP00000288368:R692Q	R	+	2	0	PREX2	69162560	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.416000	0.97383	2.595000	0.87683	0.650000	0.86243	CGG	PREX2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000046889		0.458	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	428	0.00	0	G	NM_025170		69000006	69000006	+1	no_errors	ENST00000288368	ensembl	human	known	69_37n	missense	256	66.05	498	SNP	1.000	A
PSMD6	9861	genome.wustl.edu	37	3	64004302	64004302	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr3:64004302G>A	ENST00000295901.4	-	5	939	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C	PSMD6_ENST00000394431.2_Missense_Mutation_p.R229C|PSMD6_ENST00000482510.1_Missense_Mutation_p.R228C|RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000492933.1_Missense_Mutation_p.R320C|RP11-245J9.4_ENST00000462717.1_RNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	267	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		ACAGAGTAACGGCATTCATAG	0.368																																						dbGAP											0													82.0	77.0	79.0					3																	64004302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.799C>T	3.37:g.64004302G>A	ENSP00000295901:p.Arg267Cys		A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.R267C	ENST00000295901.4	37	c.799	CCDS2901.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.122970|5.122970	0.94429|0.94429	.|.	.|.	ENSG00000163636|ENSG00000163636	ENST00000480205|ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510	.|T;T;T;T	.|0.31247	.|1.5;1.5;1.5;1.5	5.94|5.94	5.94|5.94	0.96194|0.96194	.|Proteasome component (PCI) domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54013|0.54013	0.1832|0.1832	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.998;1.0;0.999	.|P;P;D;D	.|0.65443	.|0.862;0.892;0.935;0.93	T|T	0.51442|0.51442	-0.8705|-0.8705	5|10	.|0.87932	.|D	.|0	-4.2484|-4.2484	20.3632|20.3632	0.98871|0.98871	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|229;228;320;267	.|Q6UV22;E9PHI9;C9IZE4;Q15008	.|.;.;.;PSMD6_HUMAN	L|C	114|267;320;229;228	.|ENSP00000295901:R267C;ENSP00000418695:R320C;ENSP00000377952:R229C;ENSP00000419227:R228C	.|ENSP00000295901:R267C	P|R	-|-	2|1	0|0	PSMD6|PSMD6	63979342|63979342	1.000000|1.000000	0.71417|0.71417	0.804000|0.804000	0.32291|0.32291	0.817000|0.817000	0.46193|0.46193	8.002000|8.002000	0.88514|0.88514	2.826000|2.826000	0.97356|0.97356	0.561000|0.561000	0.74099|0.74099	CCG|CGT	PSMD6	-	pfam_PCI_dom	ENSG00000163636		0.368	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD6	HGNC	protein_coding	OTTHUMT00000352082.1	137	0.00	0	G	NM_014814		64004302	64004302	-1	no_errors	ENST00000295901	ensembl	human	known	69_37n	missense	90	26.23	32	SNP	1.000	A
RIBC1	158787	genome.wustl.edu	37	X	53453289	53453289	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chrX:53453289G>A	ENST00000375327.3	+	3	218	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	RIBC1_ENST00000414955.2_Missense_Mutation_p.R22Q|RIBC1_ENST00000457095.1_Missense_Mutation_p.R22Q	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	22										lung(2)	2						AGAAGAAATCGAGAAAAAGAG	0.502																																						dbGAP											0													111.0	79.0	90.0					X																	53453289		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.65G>A	X.37:g.53453289G>A	ENSP00000364476:p.Arg22Gln		B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	pfam_RIB43A	p.R22Q	ENST00000375327.3	37	c.65	CCDS35299.1	X	.	.	.	.	.	.	.	.	.	.	G	9.184	1.024422	0.19433	.	.	ENSG00000158423	ENST00000329209;ENST00000414955;ENST00000457095;ENST00000375327	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	4.88	-0.17	0.13335	.	0.529195	0.19557	N	0.111411	T	0.09774	0.0240	N	0.12887	0.27	0.22531	N	0.999016	B;B;B	0.20671	0.047;0.047;0.038	B;B;B	0.18263	0.02;0.02;0.021	T	0.33471	-0.9867	10	0.22109	T	0.4	-0.8847	9.3824	0.38322	0.4857:0.0:0.5143:0.0	.	22;22;22	E9PDU2;Q8N443;Q8N443-2	.;RIBC1_HUMAN;.	Q	22	ENSP00000332142:R22Q;ENSP00000401463:R22Q;ENSP00000402080:R22Q;ENSP00000364476:R22Q	ENSP00000332142:R22Q	R	+	2	0	RIBC1	53470014	0.998000	0.40836	0.938000	0.37757	0.506000	0.33950	0.464000	0.21988	0.011000	0.14865	0.600000	0.82982	CGA	RIBC1	-	pfam_RIB43A	ENSG00000158423		0.502	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RIBC1	HGNC	protein_coding	OTTHUMT00000056762.1	261	0.00	0	G	NM_144968		53453289	53453289	+1	no_errors	ENST00000375327	ensembl	human	known	69_37n	missense	157	38.91	100	SNP	0.976	A
SCYL1	57410	genome.wustl.edu	37	11	65293726	65293726	+	Silent	SNP	C	C	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr11:65293726C>T	ENST00000270176.5	+	4	584	c.507C>T	c.(505-507)aaC>aaT	p.N169N	SCYL1_ENST00000279270.6_Silent_p.N169N|SCYL1_ENST00000533862.1_Silent_p.N169N|SCYL1_ENST00000525364.1_Silent_p.N169N|SCYL1_ENST00000524944.1_Silent_p.N169N|SCYL1_ENST00000527009.1_Silent_p.N26N|SCYL1_ENST00000420247.2_Silent_p.N169N	NM_020680.3	NP_065731.3	Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	169	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			GN -> AT (in Ref. 2; AAG17902). {ECO:0000305}.	peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|protein tyrosine kinase activity (GO:0004713)			ovary(1)|skin(1)	2						CCCAGGGCAACGGTGGGGGAC	0.632																																						dbGAP											0													38.0	46.0	43.0					11																	65293726		2047	4199	6246	-	-	-	SO:0001819	synonymous_variant	0			AF225424	CCDS41672.1, CCDS44646.1	11q11-q12	2008-07-21	2002-11-26	2002-11-29	ENSG00000142186	ENSG00000142186			14372	protein-coding gene	gene with protein product	"""teratoma-associated tyrosine kinase"", ""telomerase transcriptional elements-interacting factor"", ""telomerase regulation-associated protein"""	607982	"""N-terminal kinase-like"""	NTKL		11118629	Standard	NM_020680		Approved	HT019, P105, GKLP, NKTL, TAPK, TRAP, TEIF, MGC78454	uc001oea.1	Q96KG9	OTTHUMG00000166325	ENST00000270176.5:c.507C>T	11.37:g.65293726C>T			A6NJF1|Q96G50|Q96KG8|Q96KH1|Q9HAW5|Q9HBL3|Q9NR53	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.N169	ENST00000270176.5	37	c.507	CCDS41672.1	11																																																																																			SCYL1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	ENSG00000142186		0.632	SCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL1	HGNC	protein_coding	OTTHUMT00000389159.2	95	0.00	0	C	NM_020680		65293726	65293726	+1	no_errors	ENST00000270176	ensembl	human	known	69_37n	silent	44	31.25	20	SNP	0.839	T
SEMA3F	6405	genome.wustl.edu	37	3	50225261	50225261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr3:50225261C>T	ENST00000002829.3	+	19	2555	c.2071C>T	c.(2071-2073)Cga>Tga	p.R691*	SEMA3F_ENST00000434342.1_Nonsense_Mutation_p.R660*|SEMA3F_ENST00000413852.1_Nonsense_Mutation_p.R592*	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	691					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CGTCGTCACACGAGTGCAGCT	0.647																																						dbGAP											0													66.0	50.0	56.0					3																	50225261		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.2071C>T	3.37:g.50225261C>T	ENSP00000002829:p.Arg691*		C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Nonsense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.R691*	ENST00000002829.3	37	c.2071	CCDS2811.1	3	.	.	.	.	.	.	.	.	.	.	C	28.5	4.921696	0.92319	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	.	.	.	5.42	4.54	0.55810	.	0.064278	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	12.8198	0.57685	0.2965:0.7035:0.0:0.0	.	.	.	.	X	592;691;660	.	ENSP00000002829:R691X	R	+	1	2	SEMA3F	50200265	0.992000	0.36948	0.997000	0.53966	0.346000	0.29079	3.047000	0.49854	1.261000	0.44149	-0.521000	0.04368	CGA	SEMA3F	-	smart_Ig_sub	ENSG00000001617		0.647	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3F	HGNC	protein_coding	OTTHUMT00000345929.1	17	0.00	0	C	NM_004186		50225261	50225261	+1	no_errors	ENST00000002829	ensembl	human	known	69_37n	nonsense	11	38.89	7	SNP	0.961	T
SERINC5	256987	genome.wustl.edu	37	5	79473765	79473765	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr5:79473765C>G	ENST00000507668.2	-	3	467	c.317G>C	c.(316-318)tGt>tCt	p.C106S	SERINC5_ENST00000512721.1_Missense_Mutation_p.C106S|SERINC5_ENST00000512972.2_Missense_Mutation_p.C106S|SERINC5_ENST00000509193.1_Missense_Mutation_p.C106S|SERINC5_ENST00000513907.1_5'UTR	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	106					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGTCAGTAGACAGAAGATAAA	0.393																																						dbGAP											0													74.0	75.0	75.0					5																	79473765		1865	4113	5978	-	-	-	SO:0001583	missense	0			AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.317G>C	5.37:g.79473765C>G	ENSP00000426237:p.Cys106Ser		B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	pfam_TMS_TDE	p.C106S	ENST00000507668.2	37	c.317	CCDS54873.1	5	.	.	.	.	.	.	.	.	.	.	C	7.514	0.655220	0.14580	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.48	3.55	0.40652	.	0.419934	0.28077	N	0.016688	T	0.06325	0.0163	N	0.05199	-0.095	0.38492	D	0.948	P;B;P;P	0.44521	0.58;0.004;0.837;0.58	B;B;B;B	0.38156	0.197;0.012;0.266;0.197	T	0.43393	-0.9394	10	0.15066	T	0.55	.	13.957	0.64155	0.4771:0.5229:0.0:0.0	.	106;106;106;106	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	S	106;105;106;106;106	ENSP00000426237:C106S;ENSP00000426134:C106S;ENSP00000421665:C106S;ENSP00000420863:C106S	ENSP00000327542:C105S	C	-	2	0	SERINC5	79509521	0.015000	0.18098	0.992000	0.48379	0.987000	0.75469	-0.288000	0.08377	1.278000	0.44430	0.563000	0.77884	TGT	SERINC5	-	pfam_TMS_TDE	ENSG00000164300		0.393	SERINC5-201	KNOWN	basic|CCDS	protein_coding	SERINC5	HGNC	protein_coding		301	0.00	0	C	NM_178276		79473765	79473765	-1	no_errors	ENST00000509193	ensembl	human	known	69_37n	missense	177	24.36	57	SNP	0.990	G
SHROOM2	357	genome.wustl.edu	37	X	9914800	9914800	+	Silent	SNP	C	C	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chrX:9914800C>T	ENST00000380913.3	+	10	4764	c.4674C>T	c.(4672-4674)atC>atT	p.I1558I	SHROOM2_ENST00000418909.2_Silent_p.I393I	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1558	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCGAGCGCATCGTCTTTGACA	0.567																																						dbGAP											0													51.0	44.0	47.0					X																	9914800		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4674C>T	X.37:g.9914800C>T			B9EIQ7	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.I1558	ENST00000380913.3	37	c.4674	CCDS14135.1	X																																																																																			SHROOM2	-	pfam_ASD2	ENSG00000146950		0.567	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	103	0.00	0	C	NM_001649		9914800	9914800	+1	no_errors	ENST00000380913	ensembl	human	known	69_37n	silent	65	32.29	31	SNP	0.480	T
SMC1A	8243	genome.wustl.edu	37	X	53432455	53432455	+	Silent	SNP	G	G	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chrX:53432455G>A	ENST00000322213.4	-	11	2008	c.1881C>T	c.(1879-1881)cgC>cgT	p.R627R	SMC1A_ENST00000375340.6_Silent_p.R393R	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	627	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAAAGGCAATGCGGCGGGCAT	0.537																																						dbGAP											0													49.0	44.0	46.0					X																	53432455		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1881C>T	X.37:g.53432455G>A			O14995|Q16351|Q2M228	Silent	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.R627	ENST00000322213.4	37	c.1881	CCDS14352.1	X																																																																																			SMC1A	-	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	ENSG00000072501		0.537	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	74	0.00	0	G	NM_006306		53432455	53432455	-1	no_errors	ENST00000322213	ensembl	human	known	69_37n	silent	79	12.22	11	SNP	0.998	A
TBX3	6926	genome.wustl.edu	37	12	115120697	115120698	+	Frame_Shift_Ins	INS	-	-	GACC	rs534364535		TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr12:115120697_115120698insGACC	ENST00000257566.3	-	1	697_698	c.308_309insGGTC	c.(307-309)cccfs	p.-103fs	TBX3_ENST00000349155.2_Frame_Shift_Ins_p.-103fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3						anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGTGCACCTTGGGGTCGTCCTC	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.308_309insGGTC	12.37:g.115120697_115120698insGACC	ENSP00000257566:p.Pro103fs		Q8TB20|Q9UKF8	Frame_Shift_Ins	INS	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.K104fs	ENST00000257566.3	37	c.309_308	CCDS9176.1	12																																																																																			TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box	ENSG00000135111		0.619	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	56	0.00	0	-	NM_016569, NM_005996		115120697	115120698	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	frame_shift_ins	47	16.07	9	INS	0.967:1.000	GACC
TCTE1	202500	genome.wustl.edu	37	6	44250153	44250153	+	Silent	SNP	C	C	A	rs569480673		TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr6:44250153C>A	ENST00000371505.4	-	4	1112	c.990G>T	c.(988-990)ctG>ctT	p.L330L	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	330										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGTGGCTCAGCAGCTTGGCAG	0.602																																						dbGAP											0													120.0	105.0	110.0					6																	44250153		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.990G>T	6.37:g.44250153C>A			B4DX59|Q8IYS6	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L330	ENST00000371505.4	37	c.990	CCDS4910.1	6																																																																																			TCTE1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000146221		0.602	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	HGNC	protein_coding	OTTHUMT00000040736.1	225	0.00	0	C	NM_182539		44250153	44250153	-1	no_errors	ENST00000371505	ensembl	human	known	69_37n	silent	142	24.06	45	SNP	1.000	A
TMEM200A	114801	genome.wustl.edu	37	6	130762622	130762622	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr6:130762622G>A	ENST00000296978.3	+	3	1926	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E	TMEM200A_ENST00000392429.1_Missense_Mutation_p.G352E|TMEM200A_ENST00000545622.1_Missense_Mutation_p.G352E	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	352						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		AATTCCATTGGGGAGTCGTTG	0.517																																						dbGAP											0													85.0	83.0	83.0					6																	130762622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1055G>A	6.37:g.130762622G>A	ENSP00000296978:p.Gly352Glu		Q96PX5	Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.G352E	ENST00000296978.3	37	c.1055	CCDS5140.1	6	.	.	.	.	.	.	.	.	.	.	G	1.360	-0.589022	0.03799	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.415054	0.25704	N	0.028841	T	0.12603	0.0306	N	0.24115	0.695	0.29725	N	0.838354	B	0.32245	0.361	B	0.25140	0.058	T	0.06991	-1.0796	9	0.15066	T	0.55	-22.2393	14.1857	0.65605	0.0:0.0:0.7517:0.2483	.	352	Q86VY9	T200A_HUMAN	E	352	.	ENSP00000296978:G352E	G	+	2	0	TMEM200A	130804315	0.995000	0.38212	0.998000	0.56505	0.107000	0.19398	1.375000	0.34295	2.805000	0.96524	0.655000	0.94253	GGG	TMEM200A	-	NULL	ENSG00000164484		0.517	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200A	HGNC	protein_coding	OTTHUMT00000042201.1	126	0.00	0	G	NM_052913		130762622	130762622	+1	no_errors	ENST00000296978	ensembl	human	known	69_37n	missense	72	31.43	33	SNP	0.933	A
TNIK	23043	genome.wustl.edu	37	3	170846562	170846562	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr3:170846562T>G	ENST00000436636.2	-	16	2058	c.1714A>C	c.(1714-1716)Agc>Cgc	p.S572R	TNIK_ENST00000341852.6_Intron|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000284483.8_Missense_Mutation_p.S572R|TNIK_ENST00000470834.1_Missense_Mutation_p.S543R|TNIK_ENST00000357327.5_Missense_Mutation_p.S543R|TNIK_ENST00000369326.5_Missense_Mutation_p.S543R|TNIK_ENST00000475336.1_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	572	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCACTAATGCTGAAGGACTCC	0.557																																						dbGAP											0													59.0	63.0	62.0					3																	170846562		1984	4161	6145	-	-	-	SO:0001583	missense	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1714A>C	3.37:g.170846562T>G	ENSP00000399511:p.Ser572Arg		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.S572R	ENST00000436636.2	37	c.1714	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	T	27.9	4.869070	0.91587	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000284483;ENST00000357327;ENST00000470834	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.11	5.11	0.69529	.	0.082663	0.85682	D	0.000000	T	0.72787	0.3504	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.61697	0.989;0.99;0.978;0.983	P;P;P;P	0.62014	0.852;0.897;0.852;0.791	T	0.71961	-0.4434	10	0.36615	T	0.2	.	15.0663	0.71999	0.0:0.0:0.0:1.0	.	543;572;543;572	Q9UKE5-6;Q9UKE5-4;Q9UKE5-2;Q9UKE5	.;.;.;TNIK_HUMAN	R	572;543;572;543;543	ENSP00000399511:S572R;ENSP00000358332:S543R;ENSP00000284483:S572R;ENSP00000349880:S543R;ENSP00000419990:S543R	ENSP00000284483:S572R	S	-	1	0	TNIK	172329256	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.525000	0.81892	2.142000	0.66516	0.459000	0.35465	AGC	TNIK	-	NULL	ENSG00000154310		0.557	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	198	0.00	0	T	XM_039796		170846562	170846562	-1	no_errors	ENST00000436636	ensembl	human	known	69_37n	missense	137	22.16	39	SNP	1.000	G
TSC1	7248	genome.wustl.edu	37	9	135772688	135772688	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr9:135772688C>T	ENST00000298552.3	-	22	3079	c.2858G>A	c.(2857-2859)aGg>aAg	p.R953K	TSC1_ENST00000440111.2_Missense_Mutation_p.R953K|TSC1_ENST00000545250.1_Missense_Mutation_p.R902K	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	953					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTGGGTTATCCTTTTCTGAGC	0.423			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													dbGAP	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											115.0	120.0	118.0					9																	135772688		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2858G>A	9.37:g.135772688C>T	ENSP00000298552:p.Arg953Lys		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.R953K	ENST00000298552.3	37	c.2858	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737030	0.30774	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	T;T;T	0.80909	-1.43;-1.43;-1.24	5.61	3.76	0.43208	.	0.158927	0.64402	N	0.000020	T	0.66137	0.2759	L	0.35414	1.06	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.54788	-0.8241	10	0.05959	T	0.93	-8.7536	10.0893	0.42436	0.0:0.7789:0.0:0.2211	.	902;953	B7Z897;Q92574	.;TSC1_HUMAN	K	953;953;902	ENSP00000298552:R953K;ENSP00000394524:R953K;ENSP00000444017:R902K	ENSP00000298552:R953K	R	-	2	0	TSC1	134762509	0.996000	0.38824	0.978000	0.43139	0.993000	0.82548	1.545000	0.36169	0.712000	0.32039	0.650000	0.86243	AGG	TSC1	-	NULL	ENSG00000165699		0.423	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	231	0.00	0	C			135772688	135772688	-1	no_errors	ENST00000298552	ensembl	human	known	69_37n	missense	148	53.02	167	SNP	1.000	T
TSC22D3	1831	genome.wustl.edu	37	X	106957953	106957953	+	Silent	SNP	A	A	G			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chrX:106957953A>G	ENST00000372397.2	-	3	524	c.201T>C	c.(199-201)taT>taC	p.Y67Y	TSC22D3_ENST00000315660.4_Silent_p.Y133Y|TSC22D3_ENST00000372383.4_Silent_p.Y133Y|TSC22D3_ENST00000372390.4_Silent_p.Y10Y|TSC22D3_ENST00000372384.2_Silent_p.Y133Y|TSC22D3_ENST00000506081.1_Silent_p.Y133Y|TSC22D3_ENST00000514426.1_Silent_p.Y65Y|TSC22D3_ENST00000372382.4_Silent_p.Y43Y	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	67					body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)|lung(3)	6						CTCTCACAGCATACATCAGAT	0.522																																						dbGAP											0													138.0	119.0	125.0					X																	106957953		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"""glucocorticoid-induced leucine zipper"""	300506	"""delta sleep inducing peptide, immunoreactor"""	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.201T>C	X.37:g.106957953A>G			Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Silent	SNP	pfam_TSC-22_Dip_Bun	p.Y133	ENST00000372397.2	37	c.399	CCDS14531.1	X																																																																																			TSC22D3	-	pfam_TSC-22_Dip_Bun	ENSG00000157514		0.522	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC22D3	HGNC	protein_coding	OTTHUMT00000057843.2	174	0.00	0	A	NM_198057		106957953	106957953	-1	no_errors	ENST00000315660	ensembl	human	known	69_37n	silent	173	19.91	43	SNP	1.000	G
UCP3	7352	genome.wustl.edu	37	11	73714978	73714978	+	Missense_Mutation	SNP	C	C	T	rs138705669		TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr11:73714978C>T	ENST00000314032.4	-	6	1270	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	UCP3_ENST00000426995.2_Missense_Mutation_p.V240M|UCP3_ENST00000348534.4_Missense_Mutation_p.V138M|UCP3_ENST00000545271.1_5'Flank	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	240					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)	p.V240M(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GTCTTCACCACGTCCACCGGG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18084	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	large_intestine(1)											54.0	56.0	55.0					11																	73714978		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.718G>A	11.37:g.73714978C>T	ENSP00000323740:p.Val240Met		O60475|Q96HL3	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.V240M	ENST00000314032.4	37	c.718	CCDS8229.1	11	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	31	5.062620	0.93898	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995	D;D;D	0.83250	-1.7;-1.61;-1.7	5.07	5.07	0.68467	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.91845	0.7419	M	0.82630	2.6	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.92706	0.6179	10	0.66056	D	0.02	1.0447	18.4155	0.90568	0.0:1.0:0.0:0.0	.	240	P55916	UCP3_HUMAN	M	240;138;240	ENSP00000323740:V240M;ENSP00000343615:V138M;ENSP00000392143:V240M	ENSP00000323740:V240M	V	-	1	0	UCP3	73392626	1.000000	0.71417	0.979000	0.43373	0.935000	0.57460	7.722000	0.84778	2.528000	0.85240	0.655000	0.94253	GTG	UCP3	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000175564		0.572	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP3	HGNC	protein_coding	OTTHUMT00000398200.1	62	0.00	0	C	NM_003356		73714978	73714978	-1	no_errors	ENST00000314032	ensembl	human	known	69_37n	missense	55	27.63	21	SNP	1.000	T
VWF	7450	genome.wustl.edu	37	12	6230460	6230460	+	Nonsense_Mutation	SNP	G	G	A	rs61753984		TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr12:6230460G>A	ENST00000261405.5	-	3	354	c.100C>T	c.(100-102)Cga>Tga	p.R34*	VWF_ENST00000545906.1_5'Flank|VWF_ENST00000572068.1_Nonsense_Mutation_p.R71*	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	34	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.R34*(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGCTGCATCGGGCCGTGGAT	0.587																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)	GRCh37	CM061228	VWF	M	rs61753984						69.0	58.0	62.0					12																	6230460		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.100C>T	12.37:g.6230460G>A	ENSP00000261405:p.Arg34*		Q8TCE8|Q99806	Nonsense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.R34*	ENST00000261405.5	37	c.100	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.924946	0.97940	.	.	ENSG00000110799	ENST00000261405	.	.	.	5.49	4.57	0.56435	.	0.000000	0.35615	N	0.003090	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.204	0.65724	0.0:0.0:0.8493:0.1507	.	.	.	.	X	34	.	ENSP00000261405:R34X	R	-	1	2	VWF	6100721	1.000000	0.71417	0.648000	0.29521	0.269000	0.26545	3.598000	0.54038	1.269000	0.44280	0.491000	0.48974	CGA	VWF	-	pirsf_VWF,smart_VWF_type-D	ENSG00000110799		0.587	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	104	0.00	0	G	NM_000552		6230460	6230460	-1	no_errors	ENST00000261405	ensembl	human	known	69_37n	nonsense	121	16.55	24	SNP	0.642	A
WDR72	256764	genome.wustl.edu	37	15	53889357	53889358	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr15:53889357_53889358delCA	ENST00000396328.1	-	18	3305_3306	c.3066_3067delTG	c.(3064-3069)tgtgagfs	p.CE1022fs	WDR72_ENST00000559418.1_Frame_Shift_Del_p.CE1032fs|WDR72_ENST00000360509.5_Frame_Shift_Del_p.CE1022fs|WDR72_ENST00000557913.1_Frame_Shift_Del_p.CE1019fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1022										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGCTTCATCTCACAGTTACCAT	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3066_3067delTG	15.37:g.53889359_53889360delCA	ENSP00000379619:p.Cys1022fs		Q7Z3I3|Q8N8X2	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C1022fs	ENST00000396328.1	37	c.3067_3066	CCDS10151.1	15																																																																																			WDR72	-	NULL	ENSG00000166415		0.421	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	423	0.00	0	CA	NM_182758		53889357	53889358	-1	no_errors	ENST00000360509	ensembl	human	known	69_37n	frame_shift_del	249	20.19	63	DEL	0.055:0.003	-
XCR1	2829	genome.wustl.edu	37	3	46062898	46062898	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr3:46062898G>A	ENST00000309285.3	-	2	898	c.542C>T	c.(541-543)aCg>aTg	p.T181M	XCR1_ENST00000542109.1_Missense_Mutation_p.T181M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	181					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGGTACCACGTGAGTTCGGA	0.557																																						dbGAP											0													72.0	67.0	69.0					3																	46062898		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.542C>T	3.37:g.46062898G>A	ENSP00000310405:p.Thr181Met			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_lymphotactin_XCR1,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt	p.T181M	ENST00000309285.3	37	c.542	CCDS2736.1	3	.	.	.	.	.	.	.	.	.	.	G	4.401	0.074032	0.08485	.	.	ENSG00000173578	ENST00000309285;ENST00000542109	T;T	0.37411	1.2;1.2	5.36	-10.7	0.00240	GPCR, rhodopsin-like superfamily (1);	3.003810	0.01115	N	0.005668	T	0.18964	0.0455	L	0.31157	0.91	0.09310	N	1	B	0.30455	0.28	B	0.28011	0.085	T	0.13415	-1.0510	10	0.48119	T	0.1	.	1.1762	0.01835	0.1903:0.3109:0.2064:0.2924	.	181	P46094	XCR1_HUMAN	M	181	ENSP00000310405:T181M;ENSP00000438119:T181M	ENSP00000310405:T181M	T	-	2	0	XCR1	46037902	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.082000	0.01365	-2.544000	0.00483	-1.640000	0.00773	ACG	XCR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_lymphotactin_XCR1	ENSG00000173578		0.557	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCR1	HGNC	protein_coding	OTTHUMT00000257322.2	141	0.00	0	G			46062898	46062898	-1	no_errors	ENST00000309285	ensembl	human	known	69_37n	missense	81	22.86	24	SNP	0.000	A
ZFP36L1	677	genome.wustl.edu	37	14	69256807	69256807	+	Nonsense_Mutation	SNP	T	T	A			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr14:69256807T>A	ENST00000439696.2	-	2	761	c.460A>T	c.(460-462)Aag>Tag	p.K154*	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.K154*	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	154					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGCTCCGTCTTGTACTTGGGG	0.647											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													72.0	72.0	72.0					14																	69256807		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.460A>T	14.37:g.69256807T>A	ENSP00000388402:p.Lys154*	1113	Q13851	Nonsense_Mutation	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.K154*	ENST00000439696.2	37	c.460	CCDS9791.1	14	.	.	.	.	.	.	.	.	.	.	T	26.1	4.702710	0.88924	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246;ENST00000557086;ENST00000557022	.	.	.	4.69	4.69	0.59074	.	0.056167	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.1659	14.3192	0.66473	0.0:0.0:0.0:1.0	.	.	.	.	X	154;154;137;160;132	.	ENSP00000337386:K154X	K	-	1	0	ZFP36L1	68326560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.785000	0.85724	1.962000	0.57031	0.477000	0.44152	AAG	ZFP36L1	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000185650		0.647	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L1	HGNC	protein_coding	OTTHUMT00000413227.1	114	0.00	0	T			69256807	69256807	-1	no_errors	ENST00000336440	ensembl	human	known	69_37n	nonsense	14	70.83	34	SNP	1.000	A
ZNF658	26149	genome.wustl.edu	37	9	40773232	40773232	+	Silent	SNP	T	T	G			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr9:40773232T>G	ENST00000602553.1	-	5	2337	c.2043A>C	c.(2041-2043)acA>acC	p.T681T	ZNF658_ENST00000377626.3_Silent_p.T681T|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	681					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTTTTCTACCTGTGTGAATTC	0.418																																						dbGAP											0													1.0	1.0	1.0					9																	40773232		422	838	1260	-	-	-	SO:0001819	synonymous_variant	0			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2043A>C	9.37:g.40773232T>G			Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	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	p.T681	ENST00000602553.1	37	c.2043	CCDS35023.1	9																																																																																			ZNF658	-	pfscan_Znf_C2H2	ENSG00000196409		0.418	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF658	HGNC	protein_coding	OTTHUMT00000467800.1	258	0.00	0	T	NM_033160		40773232	40773232	-1	no_errors	ENST00000377626	ensembl	human	known	69_37n	silent	94	37.75	57	SNP	0.091	G
ZNF700	90592	genome.wustl.edu	37	19	12059318	12059318	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr19:12059318G>T	ENST00000254321.5	+	4	622	c.479G>T	c.(478-480)gGa>gTa	p.G160V	ZNF700_ENST00000482090.1_Missense_Mutation_p.G142V|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CAGGAATATGGACCAAAGCCA	0.423																																						dbGAP											0													154.0	149.0	151.0					19																	12059318		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.479G>T	19.37:g.12059318G>T	ENSP00000254321:p.Gly160Val		B9EGU4	Missense_Mutation	SNP	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	p.G160V	ENST00000254321.5	37	c.479	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	10.05	1.244904	0.22796	.	.	ENSG00000196757	ENST00000254321	T	0.06449	3.3	0.487	-0.713	0.11223	.	.	.	.	.	T	0.13841	0.0335	M	0.93550	3.43	0.09310	N	0.999998	P	0.51653	0.947	B	0.43478	0.421	T	0.10474	-1.0628	9	0.72032	D	0.01	.	4.4787	0.11757	0.318:0.0:0.682:0.0	.	160	Q9H0M5	ZN700_HUMAN	V	160	ENSP00000254321:G160V	ENSP00000254321:G160V	G	+	2	0	ZNF700	11920318	0.095000	0.21747	0.033000	0.17914	0.418000	0.31294	-0.744000	0.04839	-0.377000	0.07930	0.195000	0.17529	GGA	ZNF700	-	NULL	ENSG00000196757		0.423	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	278	0.00	0	G	NM_144566		12059318	12059318	+1	no_errors	ENST00000254321	ensembl	human	known	69_37n	missense	91	35.00	49	SNP	0.004	T
ZSWIM6	57688	genome.wustl.edu	37	5	60839535	60839535	+	Silent	SNP	G	G	A	rs374621238	byFrequency	TCGA-C8-A1HN-01A-11D-A135-09	TCGA-C8-A1HN-10A-01D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2576147-28eb-460f-9b97-916892d801e2	66a18ff8-0467-4423-aca0-0cbcec0e4513	g.chr5:60839535G>A	ENST00000252744.5	+	14	3039	c.3039G>A	c.(3037-3039)gcG>gcA	p.A1013A		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	1013					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						TTGAGACGGCGTACCAAATTG	0.532													g|||	4	0.000798722	0.0008	0.0014	5008	,	,		21376	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													49.0	46.0	47.0					5																	60839535		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.3039G>A	5.37:g.60839535G>A				Silent	SNP	pfscan_Znf_SWIM,prints_Antifreeze_1	p.A1013	ENST00000252744.5	37	c.3039	CCDS47215.1	5																																																																																			ZSWIM6	-	NULL	ENSG00000130449		0.532	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZSWIM6	HGNC	protein_coding	OTTHUMT00000368710.1	65	0.00	0	G	NM_020928		60839535	60839535	+1	no_errors	ENST00000252744	ensembl	human	known	69_37n	silent	37	36.21	21	SNP	0.313	A
