#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LUZP1	7798	broad.mit.edu	37	1	23417946	23417946	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:23417946G>C	ENST00000302291.4	-	4	3610	c.2809C>G	c.(2809-2811)Cca>Gca	p.P937A	LUZP1_ENST00000418342.1_Missense_Mutation_p.P937A|LUZP1_ENST00000374623.3_Missense_Mutation_p.P937A|LUZP1_ENST00000314174.5_Missense_Mutation_p.P937A			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	937					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.P937A(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		ATTCGAGTTGGGGGGTCTTCT	0.502																																							uc001bgk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2809-2811)CCA>GCA		leucine zipper protein 1							109.0	111.0	111.0					1																	23417946		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23417946G>C	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2809C>G	1.37:g.23417946G>C	ENSP00000303758:p.Pro937Ala					LUZP1_uc010odv.1_Missense_Mutation_p.P937A|LUZP1_uc001bgl.2_Missense_Mutation_p.P937A|LUZP1_uc001bgm.1_Missense_Mutation_p.P937A	p.P937A	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3193	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	937					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.2809C>G	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	9.304	1.053879	0.19907	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.14266	2.72;2.72;2.72;2.52	4.55	3.64	0.41730	.	0.000000	0.48286	D	0.000197	T	0.11067	0.0270	L	0.57536	1.79	0.25588	N	0.986727	P;B	0.37330	0.59;0.008	B;B	0.34652	0.187;0.034	T	0.16394	-1.0404	10	0.02654	T	1	.	9.9598	0.41688	0.0942:0.0:0.9058:0.0	.	937;937	Q86V48-2;Q86V48	.;LUZP1_HUMAN	A	937	ENSP00000393460:P937A;ENSP00000363752:P937A;ENSP00000303758:P937A;ENSP00000313705:P937A	ENSP00000303758:P937A	P	-	1	0	LUZP1	23290533	0.918000	0.31147	0.481000	0.27354	0.381000	0.30169	1.854000	0.39368	1.157000	0.42530	0.485000	0.47835	CCA		0.502	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		17	169	0	0	0	0.00499	0	17	169				
HNRNPR	10236	broad.mit.edu	37	1	23667394	23667394	+	Silent	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:23667394T>A	ENST00000374612.1	-	2	231	c.108A>T	c.(106-108)gcA>gcT	p.A36A	HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000302271.6_Silent_p.A36A|HNRNPR_ENST00000478691.1_Intron|HNRNPR_ENST00000374616.3_Silent_p.A36A|HNRNPR_ENST00000606561.1_Intron|HNRNPR_ENST00000427764.2_Silent_p.A36A	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	36	Asp/Glu-rich (acidic).				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A36A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GTGGGAGGCCTGCCTCTATCA	0.418																																							uc001bgr.3		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(106-108)GCA>GCT		heterogeneous nuclear ribonucleoprotein R							260.0	227.0	238.0					1																	23667394		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23667394T>A	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.108A>T	1.37:g.23667394T>A						HNRNPR_uc001bgp.3_Silent_p.A36A|HNRNPR_uc009vqk.2_Intron|HNRNPR_uc001bgs.3_Intron|HNRNPR_uc010odw.1_Silent_p.A36A|HNRNPR_uc010odx.1_Intron|HNRNPR_uc009vql.2_Intron	p.A36A	NM_005826	NP_005817	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	2	267	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	36			Asp/Glu-rich (acidic).		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.108A>T	CCDS232.1																																																																																				0.418	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		66	140	0	0	0	0.00361	0	66	140				
GPN2	54707	broad.mit.edu	37	1	27212601	27212601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:27212601C>A	ENST00000374135.4	-	3	792	c.592G>T	c.(592-594)Gag>Tag	p.E198*	GPN2_ENST00000461282.1_5'UTR|GPN2_ENST00000374133.3_Nonsense_Mutation_p.E19*	NM_018066.3	NP_060536.3			GPN-loop GTPase 2									p.E198*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						TCCAGAACCTCTGTGTAGTAG	0.502																																							uc001bnd.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(592-594)GAG>TAG		ATP binding domain 1 family, member B							94.0	74.0	81.0					1																	27212601		2203	4300	6503	SO:0001587	stop_gained	54707						GTP binding	g.chr1:27212601C>A	AK001211	CCDS289.1	1p36.11	2008-04-30	2008-04-30	2008-04-30	ENSG00000142751	ENSG00000142751		"""GPN-loop GTPases"""	25513	protein-coding gene	gene with protein product			"""ATP binding domain 1 family, member B"""	ATPBD1B		12975309	Standard	NM_018066		Approved	FLJ10349	uc001bnd.1	Q9H9Y4	OTTHUMG00000004227	ENST00000374135.4:c.592G>T	1.37:g.27212601C>A	ENSP00000363250:p.Glu198*						p.E198*	NM_018066	NP_060536	Q9H9Y4	GPN2_HUMAN			3	874	-			198						Nonsense_Mutation	SNP	ENST00000374135.4	37	c.592G>T	CCDS289.1	.	.	.	.	.	.	.	.	.	.	C	36	5.748662	0.96882	.	.	ENSG00000142751	ENST00000374135;ENST00000374133;ENST00000374131;ENST00000431781	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1059	0.93294	0.0:1.0:0.0:0.0	.	.	.	.	X	198;19;127;127	.	ENSP00000363246:E127X	E	-	1	0	GPN2	27085188	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.426000	0.80270	2.499000	0.84300	0.591000	0.81541	GAG		0.502	GPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012175.2	NM_018066		14	54	1	0	2.48551e-13	0.00499	3.51553e-13	14	54				
MRPL37	51253	broad.mit.edu	37	1	54665932	54665932	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:54665932G>C	ENST00000360840.5	+	1	93	c.16G>C	c.(16-18)Ggg>Cgg	p.G6R	MRPL37_ENST00000487096.1_Intron|CYB5RL_ENST00000542737.1_5'Flank|MRPL37_ENST00000605337.1_Missense_Mutation_p.G6R|MRPL37_ENST00000336230.6_5'UTR|RP11-446E24.4_ENST00000311841.7_5'Flank|CYB5RL_ENST00000537208.1_5'Flank	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	6					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G6R(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						ATTGGCGTCCGGGCCCGCAAG	0.716																																							uc001cxa.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(16-18)GGG>CGG		mitochondrial ribosomal protein L37 precursor							40.0	51.0	47.0					1																	54665932		2176	4254	6430	SO:0001583	missense	51253				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:54665932G>C	AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.16G>C	1.37:g.54665932G>C	ENSP00000354086:p.Gly6Arg					CYB5RL_uc009vzo.2_5'Flank|CYB5RL_uc001cwx.3_5'Flank|CYB5RL_uc001cwy.3_5'Flank|MRPL37_uc009vzp.2_5'UTR|MRPL37_uc001cxb.1_Missense_Mutation_p.G6R|MRPL37_uc001cxc.3_Intron|MRPL37_uc010oob.1_RNA	p.G6R	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN			1	93	+			6					Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	ENST00000360840.5	37	c.16G>C	CCDS589.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253662	0.39797	.	.	ENSG00000116221	ENST00000360840	T	0.38560	1.13	4.94	1.95	0.26073	.	0.858910	0.10385	N	0.681076	T	0.31575	0.0801	L	0.44542	1.39	0.80722	D	1	B	0.17465	0.022	B	0.18561	0.022	T	0.15407	-1.0438	10	0.41790	T	0.15	-9.5381	3.6974	0.08369	0.2724:0.0:0.5401:0.1875	.	6	Q9BZE1	RM37_HUMAN	R	6	ENSP00000354086:G6R	ENSP00000354086:G6R	G	+	1	0	MRPL37	54438520	0.010000	0.17322	0.947000	0.38551	0.374000	0.29953	0.228000	0.17814	0.330000	0.23485	0.655000	0.94253	GGG		0.716	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491		21	138	0	0	0	0.00278	0	21	138				
DNAJB4	11080	broad.mit.edu	37	1	78479142	78479142	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:78479142G>C	ENST00000370763.5	+	2	876	c.619G>C	c.(619-621)Ggg>Cgg	p.G207R	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	207					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)	p.G207R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GATTAAAAAAGGGTGGAAAGA	0.363																																							uc001dij.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(619-621)GGG>CGG		DnaJ (Hsp40) homolog, subfamily B, member 4							66.0	73.0	71.0					1																	78479142		2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78479142G>C	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.619G>C	1.37:g.78479142G>C	ENSP00000359799:p.Gly207Arg					DNAJB4_uc010orn.1_Missense_Mutation_p.G92R	p.G207R	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN			2	778	+			207					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.619G>C	CCDS684.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818446	0.90790	.	.	ENSG00000162616	ENST00000370763	D	0.85955	-2.05	5.33	5.33	0.75918	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	D	0.95680	0.8595	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97442	1.0022	10	0.87932	D	0	.	19.088	0.93213	0.0:0.0:1.0:0.0	.	207	Q9UDY4	DNJB4_HUMAN	R	207	ENSP00000359799:G207R	ENSP00000359799:G207R	G	+	1	0	DNAJB4	78251730	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.864000	0.99589	2.476000	0.83614	0.650000	0.86243	GGG		0.363	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			22	88	0	0	0	0.001882	0	22	88				
TTF2	8458	broad.mit.edu	37	1	117632685	117632685	+	Missense_Mutation	SNP	G	G	T	rs145353452	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:117632685G>T	ENST00000369466.4	+	14	2395	c.2351G>T	c.(2350-2352)cGt>cTt	p.R784L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	784	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)	p.R784L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AGGTTTCTCCGTTGCTCTCCA	0.408																																							uc001egy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2350-2352)CGT>CTT		transcription termination factor, RNA polymerase							116.0	120.0	119.0					1																	117632685		2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117632685G>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2351G>T	1.37:g.117632685G>T	ENSP00000358478:p.Arg784Leu						p.R784L	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	14	2371	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	784			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.2351G>T	CCDS892.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477887	0.84747	.	.	ENSG00000116830	ENST00000369466	D	0.93366	-3.21	5.41	5.41	0.78517	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.40064	N	0.001182	D	0.95357	0.8493	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.95354	0.8449	10	0.72032	D	0.01	-17.7761	16.7371	0.85449	0.0:0.0:1.0:0.0	.	784	Q9UNY4	TTF2_HUMAN	L	784	ENSP00000358478:R784L	ENSP00000358478:R784L	R	+	2	0	TTF2	117434208	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.258000	0.78371	2.826000	0.97356	0.655000	0.94253	CGT		0.408	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			26	140	1	0	2.65835e-16	0.007291	3.93736e-16	26	140				
NBPF9	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:144828704T>G	ENST00000281815.8	+	13	1290	c.544T>G	c.(544-546)Tac>Gac	p.Y182D	NBPF9_ENST00000338347.4_Missense_Mutation_p.Y584D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	842	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.L657L(3)|p.Y584D(1)		NS(2)|prostate(1)	3						CTTCGCCCTTTACGTGGACAA	0.438																																							uc009wig.1		NA																	4	Substitution - coding silent(3)|Substitution - Missense(1)		prostate(4)		0						c.(2749-2751)TAC>GAC		hypothetical protein LOC400818							35.0	31.0	32.0					1																	144828704		692	1579	2271	SO:0001583	missense	400818					cytoplasm		g.chr1:144828704T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.544T>G	1.37:g.144828704T>G	ENSP00000281815:p.Tyr182Asp					NBPF9_uc010oxn.1_Missense_Mutation_p.Y815D|NBPF9_uc010oxo.1_Missense_Mutation_p.Y842D|NBPF9_uc010oxr.1_Missense_Mutation_p.Y944D|NBPF9_uc010oxt.1_Missense_Mutation_p.Y732D|NBPF9_uc001ekg.1_Missense_Mutation_p.Y244D|NBPF9_uc001ekk.1_Missense_Mutation_p.Y488D|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.Y244D|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.Y577D|uc001elr.3_5'Flank	p.Y917D	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			23	2825	+			917			NBPF 7.			Missense_Mutation	SNP	ENST00000281815.8	37	c.2749T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.386623|-3.386623	0.00014|0.00014	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000281815	.|T;T	.|0.04194	.|3.68;3.68	0.618|0.618	-1.24|-1.24	0.09435|0.09435	.|.	.|.	.|.	.|.	.|.	T|T	0.00384|0.00384	0.0012|0.0012	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.12013	.|0.0;0.0;0.003;0.001;0.005	.|B;B;B;B;B	.|0.15484	.|0.003;0.001;0.013;0.004;0.01	T|T	0.43114|0.43114	-0.9411|-0.9411	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|648;244;815;590;657	.|Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.|.;.;.;.;.	L|D	657|584;182	.|ENSP00000342975:Y584D;ENSP00000281815:Y182D	.|ENSP00000281815:Y182D	F|Y	+|+	3|1	2|0	NBPF9|NBPF9	143540061|143540061	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.866000|-0.866000	0.04245|0.04245	-1.717000|-1.717000	0.01385|0.01385	-1.365000|-1.365000	0.01206|0.01206	TTT|TAC		0.438	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675		8	336	0	0	0	0.00308	0	8	336				
PIAS3	10401	broad.mit.edu	37	1	145580564	145580564	+	Silent	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:145580564A>G	ENST00000393045.2	+	7	954	c.864A>G	c.(862-864)aaA>aaG	p.K288K	PIAS3_ENST00000369299.3_3'UTR|PIAS3_ENST00000369298.1_Silent_p.K253K	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	288					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)	p.K279K(1)|p.K288K(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCTACAAAAACTCAGAGCAA	0.512																																							uc001eoc.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(862-864)AAA>AAG		protein inhibitor of activated STAT, 3							114.0	101.0	105.0					1																	145580564		2203	4300	6503	SO:0001819	synonymous_variant	10401				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	g.chr1:145580564A>G	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.864A>G	1.37:g.145580564A>G						NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_3'UTR|PIAS3_uc001eod.1_5'UTR	p.K288K	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN			7	955	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		288					Q9UFI3	Silent	SNP	ENST00000393045.2	37	c.864A>G	CCDS920.2																																																																																				0.512	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	NM_006099		13	67	0	0	0	0.003163	0	13	67				
SV2A	9900	broad.mit.edu	37	1	149882197	149882197	+	Silent	SNP	G	G	A	rs148163632	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:149882197G>A	ENST00000369146.3	-	5	1504	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	SV2A_ENST00000369145.1_Silent_p.L338L	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	338					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.L338L(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGGCGCAGACGAGGACGAAGA	0.582																																							uc001etg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(1)	7						c.(1012-1014)CTC>CTT		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)	G		3,4403	6.2+/-15.9	0,3,2200	72.0	66.0	68.0		1014	4.2	1.0	1	dbSNP_134	68	0,8598		0,0,4299	no	coding-synonymous	SV2A	NM_014849.3		0,3,6499	AA,AG,GG		0.0,0.0681,0.0231		338/743	149882197	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149882197G>A	AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1014C>T	1.37:g.149882197G>A						SV2A_uc001eth.2_Silent_p.L338L	p.L338L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		5	1505	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		338			Helical; (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	ENST00000369146.3	37	c.1014C>T	CCDS940.1																																																																																				0.582	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			5	45	0	0	0	0.000602	0	5	45				
CGN	57530	broad.mit.edu	37	1	151508772	151508772	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:151508772C>T	ENST00000271636.7	+	19	3390	c.3257C>T	c.(3256-3258)tCc>tTc	p.S1086F		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1080					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.S1086F(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGAACTATCCATCCAGATT	0.478																																							uc009wmw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3256-3258)TCC>TTC		cingulin							69.0	70.0	70.0					1																	151508772		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151508772C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3257C>T	1.37:g.151508772C>T	ENSP00000271636:p.Ser1086Phe					CGN_uc010pde.1_Missense_Mutation_p.S80F	p.S1086F	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		19	3401	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1080			Potential.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.3257C>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053861	0.75960	.	.	ENSG00000143375	ENST00000271636	T	0.79033	-1.23	5.65	5.65	0.86999	Myosin tail (1);	0.099239	0.64402	D	0.000003	T	0.74458	0.3719	L	0.29908	0.895	0.32601	N	0.525876	D	0.76494	0.999	D	0.71184	0.972	T	0.74954	-0.3488	10	0.40728	T	0.16	-7.682	13.2795	0.60207	0.1585:0.8415:0.0:0.0	.	1080	Q9P2M7	CING_HUMAN	F	1086	ENSP00000271636:S1086F	ENSP00000271636:S1086F	S	+	2	0	CGN	149775396	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	2.083000	0.41615	2.679000	0.91253	0.655000	0.94253	TCC		0.478	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		26	83	0	0	0	0.00632	0	26	83				
HRNR	388697	broad.mit.edu	37	1	152188193	152188193	+	Nonsense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:152188193G>C	ENST00000368801.2	-	3	5987	c.5912C>G	c.(5911-5913)tCa>tGa	p.S1971*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1971					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S1971*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCACCCTGAGCCAGACCC	0.607																																							uc001ezt.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(5911-5913)TCA>TGA		hornerin							297.0	504.0	434.0					1																	152188193		2182	4292	6474	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188193G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5912C>G	1.37:g.152188193G>C	ENSP00000357791:p.Ser1971*						p.S1971*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5988	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1971			22.		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.5912C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	42	9.689560	0.99240	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.21	-1.29	0.09288	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	0.5509	0.00662	0.3351:0.1731:0.3154:0.1764	.	.	.	.	X	1971	.	ENSP00000357791:S1971X	S	-	2	0	HRNR	150454817	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.935000	0.28924	-0.415000	0.07484	0.556000	0.70494	TCA		0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		13	722	0	0	0	0.001855	0	13	722				
FLG	2312	broad.mit.edu	37	1	152280088	152280088	+	Missense_Mutation	SNP	T	T	A	rs148955202		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:152280088T>A	ENST00000368799.1	-	3	7309	c.7274A>T	c.(7273-7275)gAg>gTg	p.E2425V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2425	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E2425V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGCGGACTCAGACTGTTC	0.597									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7273-7275)GAG>GTG		filaggrin							237.0	224.0	228.0					1																	152280088		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280088T>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7274A>T	1.37:g.152280088T>A	ENSP00000357789:p.Glu2425Val						p.E2425V	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7310	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2425			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7274A>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827797	0.32329	.	.	ENSG00000143631	ENST00000368799	T	0.01725	4.67	4.55	0.823	0.18812	.	.	.	.	.	T	0.01387	0.0045	M	0.82323	2.585	0.09310	N	1	D	0.61080	0.989	P	0.47573	0.55	T	0.44862	-0.9300	9	0.34782	T	0.22	.	2.507	0.04647	0.2016:0.2218:0.0:0.5766	.	2425	P20930	FILA_HUMAN	V	2425	ENSP00000357789:E2425V	ENSP00000357789:E2425V	E	-	2	0	FLG	150546712	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.635000	0.05471	0.733000	0.32492	0.454000	0.30748	GAG		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		211	277	0	0	0	0.00361	0	211	277				
UBAP2L	9898	broad.mit.edu	37	1	154241426	154241426	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:154241426G>T	ENST00000361546.2	+	25	3206	c.3164G>T	c.(3163-3165)gGc>gTc	p.G1055V	UBAP2L_ENST00000271877.7_Missense_Mutation_p.G1065V|UBAP2L_ENST00000484819.1_3'UTR|UBAP2L_ENST00000428931.1_Missense_Mutation_p.G1055V			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	1055					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.G551V(1)|p.G1055V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGCAGGATGGCCAGGTAATA	0.547																																							uc001fep.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(3163-3165)GGC>GTC		ubiquitin associated protein 2-like isoform a							110.0	102.0	105.0					1																	154241426		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154241426G>T	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.3164G>T	1.37:g.154241426G>T	ENSP00000355343:p.Gly1055Val					UBAP2L_uc010pel.1_Missense_Mutation_p.G1064V|UBAP2L_uc001feq.2_Missense_Mutation_p.G251V|UBAP2L_uc001fer.2_Missense_Mutation_p.G251V	p.G1055V	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		26	3331	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		1055					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.3164G>T	CCDS1063.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.84|15.84	2.951729|2.951729	0.53186|0.53186	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546|ENST00000433615;ENST00000428595	T;T;T|.	0.39997|.	1.05;1.05;1.05|.	5.73|5.73	4.82|4.82	0.62117|0.62117	.|.	0.060939|.	0.64402|.	D|.	0.000004|.	T|T	0.47507|0.47507	0.1449|0.1449	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	D;D;P;D|.	0.76494|.	0.959;0.997;0.875;0.999|.	P;P;B;D|.	0.72625|.	0.58;0.852;0.362;0.978|.	T|T	0.50127|0.50127	-0.8864|-0.8864	10|5	0.87932|.	D|.	0|.	-2.0338|-2.0338	9.2134|9.2134	0.37333|0.37333	0.0778:0.1458:0.7764:0.0|0.0778:0.1458:0.7764:0.0	.|.	1065;551;1055;1055|.	F8W726;C9JD99;Q14157-3;Q14157|.	.;.;.;UBP2L_HUMAN|.	V|C	1055;551;551;1065;1055|385;333	ENSP00000389445:G1055V;ENSP00000271877:G1065V;ENSP00000355343:G1055V|.	ENSP00000271877:G1065V|.	G|W	+|+	2|3	0|0	UBAP2L|UBAP2L	152508050|152508050	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.461000|7.461000	0.80834|0.80834	1.434000|1.434000	0.47414|0.47414	0.467000|0.467000	0.42956|0.42956	GGC|TGG		0.547	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		23	142	1	0	9.57634e-11	0.00333	1.30738e-10	23	142				
BCAN	63827	broad.mit.edu	37	1	156617830	156617830	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:156617830G>T	ENST00000329117.5	+	5	1033	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.G233W	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	233	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.G233W(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCTTCCCCGGGGTCCGGAA	0.532																																							uc001fpp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(697-699)GGG>TGG		brevican isoform 1							133.0	127.0	129.0					1																	156617830		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156617830G>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.697G>T	1.37:g.156617830G>T	ENSP00000331210:p.Gly233Trp					BCAN_uc001fpo.2_Missense_Mutation_p.G233W	p.G233W	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			5	1033	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		233			Link 1.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.697G>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363848	0.82353	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000424639;ENST00000361588	T;T;T	0.15487	2.42;2.42;2.42	3.9	3.9	0.45041	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.56097	D	0.000029	T	0.43166	0.1235	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.59101	-0.7517	10	0.87932	D	0	-21.5219	14.6115	0.68519	0.0:0.0:1.0:0.0	.	233;233	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	W	174;233;131;233	ENSP00000331210:G233W;ENSP00000401709:G131W;ENSP00000354925:G233W	ENSP00000255029:G174W	G	+	1	0	BCAN	154884454	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.564000	0.98151	2.005000	0.58758	0.555000	0.69702	GGG		0.532	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		23	166	1	0	5.35356e-11	0.00278	7.37288e-11	23	166				
NTRK1	4914	broad.mit.edu	37	1	156837895	156837896	+	Splice_Site	DNP	GG	GG	TT			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:156837895_156837896GG>TT	ENST00000524377.1	+	5	469_470	c.428_429GG>TT	c.(427-429)cGG>cTT	p.R143L	NTRK1_ENST00000368196.3_Splice_Site_p.R143L|NTRK1_ENST00000392302.2_Splice_Site_p.R113L|NTRK1_ENST00000358660.3_Splice_Site_p.R143L	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	143					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	ATGCCCCCCAGGGTCCTGTCGG	0.624			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																													uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Unknown(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17	GRCh37	CS991471	NTRK1	S		c.e5-1		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)																																			SO:0001630	splice_region_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156837895_156837896GG>TT	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	Exception_encountered	1.37:g.156837895_156837896delinsTT		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Splice_Site_p.L113_splice|NTRK1_uc009wsi.1_Splice_Site|NTRK1_uc001fqi.1_Splice_Site_p.L143_splice|NTRK1_uc009wsk.1_Splice_Site_p.L143_splice	p.L143_splice	NM_002529	NP_002520	P04629	NTRK1_HUMAN			5	485	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Splice_Site	DNP	ENST00000524377.1	37	c.429_splice	CCDS1161.1																																																																																				0.624	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	Missense_Mutation	56	88	0	0	0	0.004672	0	56	88				
ITLN1	55600	broad.mit.edu	37	1	160851995	160851995	+	Splice_Site	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:160851995C>A	ENST00000326245.3	-	4	273		c.e4-1		ITLN1_ENST00000487531.1_5'Flank	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)						positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACAGGCCATCTGTAGAGAGA	0.557																																							uc001fxc.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7						c.e4-1		intelectin precursor							66.0	58.0	61.0					1																	160851995		2203	4300	6503	SO:0001630	splice_region_variant	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160851995C>A	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.158-1G>T	1.37:g.160851995C>A							p.D53_splice	NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	274	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)							Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Splice_Site	SNP	ENST00000326245.3	37	c.158_splice	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	9.974	1.226165	0.22542	.	.	ENSG00000179914	ENST00000326245	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0049	0.64456	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITLN1	159118619	1.000000	0.71417	0.999000	0.59377	0.209000	0.24338	5.416000	0.66417	2.129000	0.65627	0.655000	0.94253	.		0.557	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625	Intron	14	81	1	0	2.35188e-11	0.006122	3.28218e-11	14	81				
F5	2153	broad.mit.edu	37	1	169511405	169511405	+	Missense_Mutation	SNP	G	G	T	rs199734164		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:169511405G>T	ENST00000367797.3	-	13	3124	c.2923C>A	c.(2923-2925)Ccc>Acc	p.P975T	F5_ENST00000367796.3_Missense_Mutation_p.P980T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	975	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.P975T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GCATTCTGGGGGCTGATCAGC	0.468																																							uc001ggg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2923-2925)CCC>ACC		coagulation factor V precursor	Drotrecogin alfa(DB00055)						107.0	110.0	109.0					1																	169511405		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511405G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2923C>A	1.37:g.169511405G>T	ENSP00000356771:p.Pro975Thr						p.P975T	NM_000130	NP_000121	P12259	FA5_HUMAN			13	3068	-	all_hematologic(923;0.208)		975			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2923C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.392435	0.25118	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.20463	2.07;2.07	5.81	1.46	0.22682	.	0.590596	0.18125	N	0.150917	T	0.14700	0.0355	L	0.47190	1.495	0.26054	N	0.98145	D	0.69078	0.997	P	0.59643	0.861	T	0.06391	-1.0829	9	0.72032	D	0.01	-5.57	3.7439	0.08540	0.1985:0.0:0.475:0.3265	.	975	P12259	FA5_HUMAN	T	975;980	ENSP00000356771:P975T;ENSP00000356770:P980T	ENSP00000356770:P980T	P	-	1	0	F5	167778029	0.003000	0.15002	0.035000	0.18076	0.058000	0.15608	-0.018000	0.12568	0.010000	0.14839	-0.333000	0.08304	CCC		0.468	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		24	244	1	0	4.26978e-12	0.00333	5.98531e-12	24	244				
TNR	7143	broad.mit.edu	37	1	175304875	175304875	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:175304875G>A	ENST00000367674.2	-	20	4311	c.3603C>T	c.(3601-3603)ttC>ttT	p.F1201F	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Silent_p.F1201F			Q92752	TENR_HUMAN	tenascin R	1201	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.F1201F(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCACGTTCCCGAAGCCAACAC	0.443																																							uc001gkp.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3601-3603)TTC>TTT		tenascin R precursor							163.0	164.0	163.0					1																	175304875		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175304875G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3603C>T	1.37:g.175304875G>A						TNR_uc009wwu.1_Silent_p.F1201F	p.F1201F	NM_003285	NP_003276	Q92752	TENR_HUMAN			18	3684	-	Renal(580;0.146)		1201			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.3603C>T	CCDS1318.1																																																																																				0.443	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		52	176	0	0	0	0.00361	0	52	176				
ASTN1	460	broad.mit.edu	37	1	177030287	177030287	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:177030287C>T	ENST00000367654.3	-	2	609	c.398G>A	c.(397-399)gGa>gAa	p.G133E	ASTN1_ENST00000424564.2_Missense_Mutation_p.G133E|ASTN1_ENST00000361833.2_Missense_Mutation_p.G133E|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.G133E	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	133					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.G133E(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGGGTCTTGTCCAGGAAGGCT	0.532																																							uc001glc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(397-399)GGA>GAA		astrotactin isoform 1							248.0	234.0	239.0					1																	177030287		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030287C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.398G>A	1.37:g.177030287C>T	ENSP00000356626:p.Gly133Glu					ASTN1_uc001glb.1_Missense_Mutation_p.G133E|ASTN1_uc001gld.1_Missense_Mutation_p.G133E|ASTN1_uc009wwx.1_Missense_Mutation_p.G133E	p.G133E	NM_004319	NP_004310	O14525	ASTN1_HUMAN			2	610	-			133					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.398G>A		.	.	.	.	.	.	.	.	.	.	C	20.5	3.994327	0.74703	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15256	2.44;2.86;2.86;2.45	6.06	6.06	0.98353	.	0.081308	0.51477	D	0.000082	T	0.35770	0.0943	L	0.36672	1.1	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72075	0.976;0.976;0.976	T	0.01626	-1.1309	10	0.87932	D	0	-9.3983	20.2159	0.98296	0.0:1.0:0.0:0.0	.	133;133;133	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	E	133	ENSP00000356629:G133E;ENSP00000354536:G133E;ENSP00000356626:G133E;ENSP00000395041:G133E	ENSP00000354536:G133E	G	-	2	0	ASTN1	175296910	0.999000	0.42202	0.998000	0.56505	0.984000	0.73092	3.733000	0.55029	2.882000	0.98803	0.655000	0.94253	GGA		0.532	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		37	311	0	0	0	0.004289	0	37	311				
ZNF648	127665	broad.mit.edu	37	1	182026435	182026435	+	Silent	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:182026435C>G	ENST00000339948.3	-	2	918	c.711G>C	c.(709-711)gcG>gcC	p.A237A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A237A(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CGCGCCGGCCCGCCTGGTTCT	0.701																																					NSCLC(71;908 1374 5429 20458 35642)	NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(709-711)GCG>GCC		zinc finger protein 648							15.0	16.0	16.0					1																	182026435		2196	4286	6482	SO:0001819	synonymous_variant	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026435C>G	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.711G>C	1.37:g.182026435C>G							p.A237A	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	919	-			237					B2RP16	Silent	SNP	ENST00000339948.3	37	c.711G>C	CCDS30952.1																																																																																				0.701	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		4	16	0	0	0	0.000602	0	4	16				
LAMC1	3915	broad.mit.edu	37	1	183091040	183091040	+	Missense_Mutation	SNP	G	G	T	rs147401305	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:183091040G>T	ENST00000258341.4	+	12	2430	c.2173G>T	c.(2173-2175)Gcc>Tcc	p.A725S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	725	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.A725S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TGTGCTTTGCGCCTGCAATGG	0.478																																							uc001gpy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|kidney(1)	5						c.(2173-2175)GCC>TCC		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						132.0	117.0	122.0					1																	183091040		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183091040G>T	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2173G>T	1.37:g.183091040G>T	ENSP00000258341:p.Ala725Ser						p.A725S	NM_002293	NP_002284	P11047	LAMC1_HUMAN			12	2430	+			725			Laminin EGF-like 6.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2173G>T	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	8.649	0.897874	0.17686	.	.	ENSG00000135862	ENST00000258341	T	0.61158	0.13	5.17	1.54	0.23209	EGF-like, laminin (3);	0.249221	0.46442	D	0.000296	T	0.17492	0.0420	N	0.00569	-1.365	0.19300	N	0.999978	B	0.02656	0.0	B	0.08055	0.003	T	0.29058	-1.0024	10	0.09338	T	0.73	.	5.4496	0.16556	0.6007:0.0:0.2809:0.1184	.	725	P11047	LAMC1_HUMAN	S	725	ENSP00000258341:A725S	ENSP00000258341:A725S	A	+	1	0	LAMC1	181357663	0.001000	0.12720	0.533000	0.28001	0.645000	0.38454	0.530000	0.23036	0.013000	0.14918	-0.946000	0.02672	GCC		0.478	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		27	38	1	0	2.12542e-12	0.00632	2.99274e-12	27	38				
F13B	2165	broad.mit.edu	37	1	197019870	197019870	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:197019870G>A	ENST00000367412.1	-	10	1738	c.1695C>T	c.(1693-1695)gcC>gcT	p.A565A	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	565	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.A565A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTAAACAATAGGCCTCCCTAG	0.348																																							uc001gtt.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1693-1695)GCC>GCT		coagulation factor XIII B subunit precursor							89.0	89.0	89.0					1																	197019870		2203	4300	6503	SO:0001819	synonymous_variant	2165				blood coagulation	extracellular region		g.chr1:197019870G>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1695C>T	1.37:g.197019870G>A							p.A565A	NM_001994	NP_001985	P05160	F13B_HUMAN			10	1739	-			565			Sushi 9.		A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	37	c.1695C>T	CCDS1388.1																																																																																				0.348	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		14	70	0	0	0	0.004007	0	14	70				
CACNA1S	779	broad.mit.edu	37	1	201030557	201030557	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:201030557C>T	ENST00000362061.3	-	25	3319	c.3093G>A	c.(3091-3093)gtG>gtA	p.V1031V	CACNA1S_ENST00000367338.3_Silent_p.V1031V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1031	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.V1031V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGATGGGACCCACGTCCTCCG	0.532																																							uc001gvv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3091-3093)GTG>GTA		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						179.0	153.0	162.0					1																	201030557		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201030557C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3093G>A	1.37:g.201030557C>T							p.V1031V	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			25	3320	-			1031			III.|Extracellular (Potential).|Dihydropyridine binding (By similarity).		A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.3093G>A	CCDS1407.1																																																																																				0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		4	93	0	0	0	0.009096	0	4	93				
CACNA1S	779	broad.mit.edu	37	1	201035434	201035434	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:201035434T>A	ENST00000362061.3	-	21	2894	c.2668A>T	c.(2668-2670)Atc>Ttc	p.I890F	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I890F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	890					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.I890F(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCACGGAGATGGCACTGGAC	0.657																																							uc001gvv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2668-2670)ATC>TTC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						56.0	57.0	57.0					1																	201035434		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201035434T>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2668A>T	1.37:g.201035434T>A	ENSP00000355192:p.Ile890Phe						p.I890F	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			21	2895	-			890			III.|Extracellular (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2668A>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.769078	0.49680	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98381	-4.9;-4.9	3.92	3.92	0.45320	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98090	0.9370	L	0.46567	1.45	0.58432	D	0.999999	D	0.67145	0.996	D	0.74023	0.982	D	0.98474	1.0602	10	0.59425	D	0.04	.	13.0419	0.58904	0.0:0.0:0.0:1.0	.	890	Q13698	CAC1S_HUMAN	F	890	ENSP00000355192:I890F;ENSP00000356307:I890F	ENSP00000355192:I890F	I	-	1	0	CACNA1S	199302057	1.000000	0.71417	0.997000	0.53966	0.546000	0.35178	7.960000	0.87893	1.538000	0.49270	0.379000	0.24179	ATC		0.657	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		22	75	0	0	0	0.003954	0	22	75				
ELF3	1999	broad.mit.edu	37	1	201980419	201980419	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:201980419A>G	ENST00000359651.3	+	1	3347	c.155A>G	c.(154-156)gAg>gGg	p.E52G	ELF3_ENST00000367283.3_Missense_Mutation_p.E52G|ELF3_ENST00000367284.5_Missense_Mutation_p.E52G|ELF3_ENST00000495848.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RP11-510N19.5_ENST00000504773.1_RNA					E74-like factor 3 (ets domain transcription factor, epithelial-specific )									p.E52G(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						ATGTCATTGGAGGGTACAGGT	0.607																																							uc001gxg.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(154-156)GAG>GGG		E74-like factor 3 (ets domain transcription							63.0	60.0	61.0					1																	201980419		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201980419A>G	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.155A>G	1.37:g.201980419A>G	ENSP00000352673:p.Glu52Gly					ELF3_uc001gxi.3_Missense_Mutation_p.E52G|ELF3_uc001gxh.3_Missense_Mutation_p.E52G	p.E52G	NM_004433	NP_004424	P78545	ELF3_HUMAN			1	3347	+			52			PNT.			Missense_Mutation	SNP	ENST00000359651.3	37	c.155A>G	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.475143	0.84640	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.34667	1.49;1.49;1.49;1.35	5.88	5.88	0.94601	Sterile alpha motif/pointed domain (1);Pointed domain (3);	2.274820	0.01250	N	0.008866	T	0.57902	0.2085	M	0.62723	1.935	0.40068	D	0.975974	P	0.51537	0.946	P	0.56916	0.809	T	0.31024	-0.9958	10	0.19147	T	0.46	.	14.8719	0.70465	1.0:0.0:0.0:0.0	.	52	P78545	ELF3_HUMAN	G	52	ENSP00000352673:E52G;ENSP00000356253:E52G;ENSP00000356252:E52G;ENSP00000405162:E52G	ENSP00000311348:E52G	E	+	2	0	ELF3	200247042	1.000000	0.71417	0.990000	0.47175	0.724000	0.41520	4.142000	0.58044	2.246000	0.74042	0.533000	0.62120	GAG		0.607	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		3	118	0	0	0	0.004672	0	3	118				
SLC26A9	115019	broad.mit.edu	37	1	205904837	205904837	+	Missense_Mutation	SNP	G	G	A	rs551668115		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:205904837G>A	ENST00000367135.3	-	2	225	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	SLC26A9_ENST00000340781.4_Missense_Mutation_p.R38C|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R38C	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	38					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)	p.R38C(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AAGGCATTGCGAAGTTTCTCT	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21305	0.0		0.0	False		,,,				2504	0.0						uc001hdq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(112-114)CGC>TGC		solute carrier family 26, member 9 isoform a							228.0	198.0	208.0					1																	205904837		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205904837G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.112C>T	1.37:g.205904837G>A	ENSP00000356103:p.Arg38Cys					SLC26A9_uc001hdp.2_Missense_Mutation_p.R38C	p.R38C	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		2	226	-	Breast(84;0.201)		38					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.112C>T	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.549593	0.45383	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93604	-3.25;-3.21;-3.25	5.45	2.49	0.30216	.	0.369254	0.23912	N	0.043340	D	0.86066	0.5844	L	0.29908	0.895	0.37524	D	0.917668	B;B	0.13594	0.004;0.008	B;B	0.06405	0.001;0.002	T	0.79869	-0.1621	10	0.51188	T	0.08	.	5.0215	0.14363	0.1629:0.0:0.3886:0.4485	.	38;38	Q7LBE3;B1AVM8	S26A9_HUMAN;.	C	38	ENSP00000341682:R38C;ENSP00000356103:R38C;ENSP00000356102:R38C	ENSP00000341682:R38C	R	-	1	0	SLC26A9	204171460	0.977000	0.34250	0.963000	0.40424	0.997000	0.91878	3.194000	0.51005	0.647000	0.30713	0.655000	0.94253	CGC		0.552	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		18	208	0	0	0	0.008871	0	18	208				
CENPF	1063	broad.mit.edu	37	1	214820057	214820057	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:214820057G>A	ENST00000366955.3	+	13	7312	c.7144G>A	c.(7144-7146)Ggt>Agt	p.G2382S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2478	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.G2382S(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAGTCTGAGAGGTCTGGAATT	0.373																																					Colon(80;575 1284 11000 14801 43496)	Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(7144-7146)GGT>AGT		centromere protein F							33.0	36.0	35.0					1																	214820057		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214820057G>A	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.7144G>A	1.37:g.214820057G>A	ENSP00000355922:p.Gly2382Ser						p.G2382S	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	7318	+			2478			2-2.|Potential.|2 X 177 AA tandem repeats.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.7144G>A	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820893	0.32237	.	.	ENSG00000117724	ENST00000366955	T	0.41400	1.0	5.09	4.11	0.48088	Centromere protein Cenp-F, leucine-rich repeat-containing domain (1);	0.000000	0.39407	N	0.001369	T	0.19406	0.0466	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.21280	-1.0250	10	0.08599	T	0.76	.	5.995	0.19489	0.0968:0.0:0.6551:0.2481	.	2478	P49454	CENPF_HUMAN	S	2382	ENSP00000355922:G2382S	ENSP00000355922:G2382S	G	+	1	0	CENPF	212886680	0.027000	0.19231	0.008000	0.14137	0.806000	0.45545	1.479000	0.35453	2.628000	0.89032	0.609000	0.83330	GGT		0.373	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		14	67	0	0	0	0.00245	0	14	67				
CNIH3	149111	broad.mit.edu	37	1	224927039	224927039	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:224927039A>T	ENST00000272133.3	+	6	1346	c.464A>T	c.(463-465)tAc>tTc	p.Y155F		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	155					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)	p.Y155F(1)		large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		AGCATGATCTACACTTTAGTG	0.468																																							uc001hos.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(463-465)TAC>TTC		cornichon homolog 3							71.0	69.0	70.0					1																	224927039		2203	4300	6503	SO:0001583	missense	149111				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		g.chr1:224927039A>T	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.464A>T	1.37:g.224927039A>T	ENSP00000272133:p.Tyr155Phe						p.Y155F	NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	6	1162	+	Breast(184;0.218)		155			Helical; (Potential).			Missense_Mutation	SNP	ENST00000272133.3	37	c.464A>T	CCDS1544.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666727	0.67814	.	.	ENSG00000143786	ENST00000272133	.	.	.	5.06	5.06	0.68205	.	0.162631	0.42172	D	0.000760	T	0.66346	0.2780	M	0.75447	2.3	0.80722	D	1	B	0.13145	0.007	B	0.09377	0.004	T	0.63717	-0.6574	9	0.31617	T	0.26	-22.6902	14.9834	0.71327	1.0:0.0:0.0:0.0	.	155	Q8TBE1	CNIH3_HUMAN	F	155	.	ENSP00000272133:Y155F	Y	+	2	0	CNIH3	222993662	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.936000	0.63506	2.129000	0.65627	0.533000	0.62120	TAC		0.468	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495		16	91	0	0	0	0.004007	0	16	91				
NUP133	55746	broad.mit.edu	37	1	229636555	229636555	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:229636555T>C	ENST00000261396.3	-	4	552	c.461A>G	c.(460-462)gAc>gGc	p.D154G	NUP133_ENST00000366678.3_Missense_Mutation_p.D154G|NUP133_ENST00000537506.1_Missense_Mutation_p.D138G	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	154					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.D154G(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGCCACTAAGTCGGCACTCCA	0.398																																							uc001htn.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(460-462)GAC>GGC		nucleoporin 133kDa							61.0	60.0	60.0					1																	229636555		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229636555T>C		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.461A>G	1.37:g.229636555T>C	ENSP00000261396:p.Asp154Gly						p.D154G	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			4	553	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	154					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.461A>G	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.929510	0.52759	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506;ENST00000366678	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.091635	0.64402	D	0.000001	T	0.34978	0.0916	M	0.76002	2.32	0.51767	D	0.999936	B	0.26547	0.152	B	0.37304	0.246	T	0.15378	-1.0439	10	0.32370	T	0.25	-8.1519	10.7435	0.46166	0.0:0.0796:0.0:0.9204	.	154	Q8WUM0	NU133_HUMAN	G	154;154;154;138;154	ENSP00000261396:D154G;ENSP00000355640:D154G;ENSP00000443496:D138G;ENSP00000355639:D154G	ENSP00000261396:D154G	D	-	2	0	NUP133	227703178	1.000000	0.71417	0.697000	0.30258	0.257000	0.26127	2.813000	0.48002	2.208000	0.71279	0.455000	0.32223	GAC		0.398	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		8	37	0	0	0	0.010729	0	8	37				
EXO1	9156	broad.mit.edu	37	1	242042436	242042436	+	Silent	SNP	C	C	A	rs560322680		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:242042436C>A	ENST00000366548.3	+	13	2493	c.1900C>A	c.(1900-1902)Cga>Aga	p.R634R	EXO1_ENST00000518483.1_Silent_p.R634R|EXO1_ENST00000348581.5_Silent_p.R634R	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	634	Interaction with MSH2.		R -> Q (in dbSNP:rs4149978). {ECO:0000269|Ref.5}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.R634R(1)|p.R634*(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GCAGCAGTTCCGAAGAAAGAG	0.483								Editing and processing nucleases																															uc001hzh.2		NA																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(2)|lung(2)|skin(1)	5						c.(1900-1902)CGA>AGA	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							85.0	80.0	81.0					1																	242042436		2203	4300	6503	SO:0001819	synonymous_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242042436C>A	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1900C>A	1.37:g.242042436C>A						EXO1_uc001hzi.2_Silent_p.R634R|EXO1_uc001hzj.2_Silent_p.R634R|EXO1_uc009xgq.2_Silent_p.R633R	p.R634R	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		13	2440	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	634			Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	37	c.1900C>A	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	6.736	0.504586	0.12822	.	.	ENSG00000174371	ENST00000521202	.	.	.	5.72	2.65	0.31530	.	.	.	.	.	T	0.25419	0.0618	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16129	-1.0413	4	.	.	.	-6.2523	4.2643	0.10756	0.279:0.5058:0.1357:0.0794	.	.	.	.	Q	32	.	.	P	+	2	0	EXO1	240109059	0.521000	0.26258	0.398000	0.26321	0.101000	0.19017	1.144000	0.31565	1.392000	0.46585	0.650000	0.86243	CCG		0.483	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		4	101	1	0	0.00909568	0.009096	0.00984843	4	101				
OR6F1	343169	broad.mit.edu	37	1	247876019	247876019	+	Silent	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:247876019G>T	ENST00000302084.2	-	1	86	c.39C>A	c.(37-39)ctC>ctA	p.L13L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	13			L -> P (in dbSNP:rs60303431).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L13L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGCCCAGTAAGAGAAAGTCCT	0.463																																							uc001idj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(37-39)CTC>CTA		olfactory receptor, family 6, subfamily F,							98.0	101.0	100.0					1																	247876019		2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247876019G>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.39C>A	1.37:g.247876019G>T							p.L13L	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	39	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		13			Extracellular (Potential).		B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.39C>A	CCDS31095.1																																																																																				0.463	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		41	184	1	0	2.19962e-31	0.00874	3.7537e-31	41	184				
OR2M3	127062	broad.mit.edu	37	1	248366604	248366604	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:248366604C>A	ENST00000456743.1	+	1	273	c.235C>A	c.(235-237)Ccc>Acc	p.P79T		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P79T(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CACCACCGTACCCAAGATGGC	0.527																																							uc010pzg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(235-237)CCC>ACC		olfactory receptor, family 2, subfamily M,							275.0	265.0	268.0					1																	248366604		2203	4297	6500	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366604C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.235C>A	1.37:g.248366604C>A	ENSP00000389625:p.Pro79Thr						p.P79T	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	235	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		79			Helical; Name=2; (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.235C>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423603	0.43020	.	.	ENSG00000228198	ENST00000456743	T	0.01854	4.6	2.44	2.44	0.29823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31949	U	0.006810	T	0.17789	0.0427	H	0.99475	4.585	0.26736	N	0.970484	D	0.55800	0.973	P	0.53401	0.725	T	0.44360	-0.9333	10	0.87932	D	0	.	12.8724	0.57972	0.0:1.0:0.0:0.0	.	79	Q8NG83	OR2M3_HUMAN	T	79	ENSP00000389625:P79T	ENSP00000389625:P79T	P	+	1	0	OR2M3	246433227	0.996000	0.38824	0.009000	0.14445	0.359000	0.29487	5.566000	0.67372	1.361000	0.45981	0.405000	0.27470	CCC		0.527	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		200	413	1	0	3.74347e-84	0.00361	6.71686e-84	200	413				
OR2T33	391195	broad.mit.edu	37	1	248436623	248436623	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:248436623G>T	ENST00000318021.2	-	1	515	c.494C>A	c.(493-495)cCa>cAa	p.P165Q		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P165Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCACAATATGGGAAGCTCAG	0.562																																							uc010pzi.1		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(493-495)CCA>CAA		olfactory receptor, family 2, subfamily T,							58.0	61.0	60.0					1																	248436623		2203	4300	6503	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436623G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.494C>A	1.37:g.248436623G>T	ENSP00000324687:p.Pro165Gln						p.P165Q	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	494	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		165			Extracellular (Potential).		B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.494C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	3.691	-0.063492	0.07273	.	.	ENSG00000177212	ENST00000318021	T	0.00202	8.56	2.46	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	0.231770	0.22028	U	0.065628	T	0.00271	0.0008	M	0.83312	2.635	0.09310	N	1	B	0.27068	0.167	B	0.33690	0.168	T	0.21348	-1.0248	10	0.66056	D	0.02	.	7.0569	0.25104	0.0:0.0:0.7299:0.27	.	165	Q8NG76	O2T33_HUMAN	Q	165	ENSP00000324687:P165Q	ENSP00000324687:P165Q	P	-	2	0	OR2T33	246503246	0.000000	0.05858	0.709000	0.30452	0.058000	0.15608	0.765000	0.26546	1.300000	0.44818	0.494000	0.49563	CCA		0.562	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		10	87	1	0	1.49906e-05	0.00245	1.76957e-05	10	87				
OR2T12	127064	broad.mit.edu	37	1	248458171	248458171	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:248458171G>T	ENST00000317996.1	-	1	709	c.710C>A	c.(709-711)gCc>gAc	p.A237D		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237D(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGAGCAGGTGGCAAAGGCCTT	0.522																																							uc010pzj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(709-711)GCC>GAC		olfactory receptor, family 2, subfamily T,							84.0	83.0	84.0					1																	248458171		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458171G>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.710C>A	1.37:g.248458171G>T	ENSP00000324583:p.Ala237Asp						p.A237D	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	710	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		237			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.710C>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	16.84	3.233048	0.58777	.	.	ENSG00000177201	ENST00000317996	T	0.00107	8.72	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.795910	0.10223	U	0.700685	T	0.00468	0.0015	M	0.85462	2.755	0.27793	N	0.942745	D	0.57571	0.98	P	0.62184	0.899	T	0.42258	-0.9462	10	0.87932	D	0	.	10.5912	0.45310	0.0:0.0:1.0:0.0	.	237	Q8NG77	O2T12_HUMAN	D	237	ENSP00000324583:A237D	ENSP00000324583:A237D	A	-	2	0	OR2T12	246524794	0.090000	0.21635	0.736000	0.30914	0.745000	0.42441	0.187000	0.16998	0.645000	0.30675	0.175000	0.17021	GCC		0.522	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		29	74	1	0	1.56442e-22	0.012213	2.5321e-22	29	74				
OR2T4	127074	broad.mit.edu	37	1	248525194	248525194	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:248525194G>A	ENST00000366475.1	+	1	312	c.312G>A	c.(310-312)gcG>gcA	p.A104A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A104A(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGACATGGCGTACATTTCTG	0.498																																							uc001ieh.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(310-312)GCG>GCA		olfactory receptor, family 2, subfamily T,							310.0	228.0	255.0					1																	248525194		2203	4298	6501	SO:0001819	synonymous_variant	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525194G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.312G>A	1.37:g.248525194G>A							p.A104A	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	312	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		104			Helical; Name=2; (Potential).		Q6IEZ8	Silent	SNP	ENST00000366475.1	37	c.312G>A	CCDS31113.1																																																																																				0.498	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		162	397	0	0	0	0.00361	0	162	397				
OR14I1	401994	broad.mit.edu	37	1	248844837	248844837	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:248844837C>A	ENST00000342623.3	-	1	792	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A257S(1)		NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GGTCCTAAGGCAGCAAAGAGC	0.478																																							uc001ieu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(769-771)GCC>TCC		olfactory receptor, family 14, subfamily I,							109.0	101.0	103.0					1																	248844837		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844837C>A		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.769G>T	1.37:g.248844837C>A	ENSP00000339726:p.Ala257Ser						p.A257S	NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN			1	769	-			257			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000342623.3	37	c.769G>T	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	12.02	1.812406	0.32053	.	.	ENSG00000189181	ENST00000342623	T	0.00091	8.74	3.25	-2.42	0.06542	GPCR, rhodopsin-like superfamily (1);	0.339118	0.21405	N	0.075079	T	0.00073	0.0002	N	0.22421	0.69	0.09310	N	1	B	0.30526	0.283	B	0.33196	0.159	T	0.36359	-0.9751	10	0.87932	D	0	.	3.6412	0.08168	0.5198:0.2482:0.0:0.2321	.	257	A6ND48	O14I1_HUMAN	S	257	ENSP00000339726:A257S	ENSP00000339726:A257S	A	-	1	0	OR14I1	246911460	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-0.262000	0.08682	-0.231000	0.09825	0.543000	0.68304	GCC		0.478	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		42	129	1	0	1.23713e-20	0.00361	1.93263e-20	42	129				
TUBB8	347688	broad.mit.edu	37	10	93315	93315	+	Silent	SNP	A	A	G	rs9794100		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:93315A>G	ENST00000309812.4	-	4	1079	c.1017T>C	c.(1015-1017)agT>agC	p.S339S	TUBB8_ENST00000447903.2_Silent_p.S267S|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	339					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S339S(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CAGCAAAGTAACTGCTGTTCT	0.517																																					Pancreas(192;2041 3010 9013 18103)	Pancreas(192;2041 3010 9013 18103)	uc001ifi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1015-1017)AGT>AGC		tubulin, beta 8 isoform 1							94.0	103.0	100.0					10																	93315		2203	4300	6503	SO:0001819	synonymous_variant	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93315A>G	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.1017T>C	10.37:g.93315A>G						TUBB8_uc009xhe.2_Silent_p.S302S|TUBB8_uc010pzs.1_Silent_p.S267S	p.S339S	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	1017	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	339					Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	c.1017T>C	CCDS7051.1																																																																																				0.517	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		4	121	0	0	0	0.009096	0	4	121				
KIN	22944	broad.mit.edu	37	10	7801874	7801874	+	Silent	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:7801874T>A	ENST00000379562.4	-	12	1145	c.1098A>T	c.(1096-1098)tcA>tcT	p.S366S	KIN_ENST00000543003.1_Silent_p.S260S|KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Silent_p.S366S	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein									p.S366S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CGATAGTAGCTGAAAAAGTCT	0.303																																							uc001ijt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1096-1098)TCA>TCT		HsKin17 protein							101.0	97.0	98.0					10																	7801874		2203	4294	6497	SO:0001819	synonymous_variant	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7801874T>A	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.1098A>T	10.37:g.7801874T>A						KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Intron|KIN_uc010qba.1_Silent_p.S260S	p.S366S	NM_012311	NP_036443	O60870	KIN17_HUMAN			12	1146	-			366			C-terminal subdomain B.			Silent	SNP	ENST00000379562.4	37	c.1098A>T	CCDS7080.1																																																																																				0.303	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311		6	54	0	0	0	0.001984	0	6	54				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																							uc010qex.1		NA																	0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	82	0	0	0	0.009096	0	3	82				
PCDH15	65217	broad.mit.edu	37	10	55826582	55826582	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:55826582G>A	ENST00000320301.6	-	18	2549	c.2155C>T	c.(2155-2157)Cct>Tct	p.P719S	PCDH15_ENST00000395432.2_Missense_Mutation_p.P682S|PCDH15_ENST00000437009.1_Missense_Mutation_p.P648S|PCDH15_ENST00000395445.1_Missense_Mutation_p.P726S|PCDH15_ENST00000373965.2_Missense_Mutation_p.P726S|PCDH15_ENST00000373957.3_Missense_Mutation_p.P697S|PCDH15_ENST00000395433.1_Missense_Mutation_p.P697S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P719S|PCDH15_ENST00000373955.1_Missense_Mutation_p.P719S|PCDH15_ENST00000409834.1_Missense_Mutation_p.P330S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P719S|PCDH15_ENST00000361849.3_Missense_Mutation_p.P719S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P724S	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	719	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.P719S(2)|p.P724S(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGCAGATAAGGATCAAACACT	0.373										HNSCC(58;0.16)																													uc001jju.1		NA																	4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2155-2157)CCT>TCT		protocadherin 15 isoform CD1-4 precursor							102.0	93.0	96.0					10																	55826582		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55826582G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2155C>T	10.37:g.55826582G>A	ENSP00000322604:p.Pro719Ser	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.P724S|PCDH15_uc010qhr.1_Missense_Mutation_p.P719S|PCDH15_uc010qhs.1_Missense_Mutation_p.P731S|PCDH15_uc010qht.1_Missense_Mutation_p.P726S|PCDH15_uc010qhu.1_Missense_Mutation_p.P719S|PCDH15_uc001jjv.1_Missense_Mutation_p.P697S|PCDH15_uc010qhv.1_Missense_Mutation_p.P719S|PCDH15_uc010qhw.1_Missense_Mutation_p.P682S|PCDH15_uc010qhx.1_Missense_Mutation_p.P648S|PCDH15_uc010qhy.1_Missense_Mutation_p.P724S|PCDH15_uc010qhz.1_Missense_Mutation_p.P719S|PCDH15_uc010qia.1_Missense_Mutation_p.P697S|PCDH15_uc010qib.1_Missense_Mutation_p.P697S|PCDH15_uc001jjw.2_Missense_Mutation_p.P719S	p.P719S	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			18	2550	-		Melanoma(3;0.117)|Lung SC(717;0.238)	719			Extracellular (Potential).|Cadherin 7.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2155C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854800	0.51376	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.3;0.17;0.17;0.17;0.17	5.85	4.93	0.64822	Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.54431	0.1858	L	0.48362	1.52	0.39103	D	0.961313	P;B;B;B;B;B;P;B;B;B;B;B;B;B;B	0.46859	0.885;0.129;0.129;0.012;0.048;0.129;0.885;0.029;0.035;0.012;0.013;0.049;0.008;0.021;0.059	P;B;B;B;B;B;P;B;B;B;B;B;B;B;B	0.45071	0.468;0.046;0.028;0.008;0.027;0.028;0.468;0.01;0.017;0.008;0.01;0.016;0.015;0.01;0.017	T	0.53767	-0.8392	9	0.19147	T	0.46	.	15.6852	0.77405	0.0:0.1377:0.8623:0.0	.	697;719;719;724;648;682;719;719;726;726;719;724;719;697;719	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	S	726;724;719;719;330;726;682;719;697;697;719;719;724;648;719	ENSP00000363076:P726S;ENSP00000410304:P724S;ENSP00000378826:P719S;ENSP00000386693:P330S;ENSP00000378832:P726S;ENSP00000378820:P682S;ENSP00000354950:P719S;ENSP00000378821:P697S;ENSP00000363068:P697S;ENSP00000322604:P719S;ENSP00000378818:P719S;ENSP00000412628:P648S;ENSP00000363066:P719S	ENSP00000322604:P719S	P	-	1	0	PCDH15	55496588	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.946000	0.56644	1.441000	0.47550	0.655000	0.94253	CCT		0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		33	100	0	0	0	0.002836	0	33	100				
MYPN	84665	broad.mit.edu	37	10	69933835	69933835	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:69933835G>C	ENST00000358913.5	+	11	2474	c.1986G>C	c.(1984-1986)caG>caC	p.Q662H	MYPN_ENST00000540630.1_Missense_Mutation_p.Q662H|MYPN_ENST00000354393.2_Missense_Mutation_p.Q387H	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	662	Interaction with NEB.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.Q662H(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATTCCACTCAGTTACAACAGC	0.403																																							uc001jnm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1984-1986)CAG>CAC		myopalladin							179.0	144.0	156.0					10																	69933835		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69933835G>C	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1986G>C	10.37:g.69933835G>C	ENSP00000351790:p.Gln662His					MYPN_uc001jnn.3_Missense_Mutation_p.Q387H|MYPN_uc001jno.3_Missense_Mutation_p.Q662H|MYPN_uc009xpt.2_Missense_Mutation_p.Q662H|MYPN_uc010qit.1_Missense_Mutation_p.Q368H|MYPN_uc010qiu.1_RNA	p.Q662H	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			12	2171	+			662			Interaction with NEB.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.1986G>C	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.695835	0.48202	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.61980	0.06;0.15;0.13	5.51	2.61	0.31194	.	0.062472	0.64402	D	0.000004	T	0.72028	0.3410	L	0.56769	1.78	0.50039	D	0.999847	D;D;D	0.71674	0.998;0.998;0.991	D;D;P	0.80764	0.994;0.947;0.823	T	0.69774	-0.5054	9	.	.	.	.	11.0061	0.47635	0.2058:0.0:0.7942:0.0	.	662;387;662	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	H	387;387;662;662	ENSP00000346369:Q387H;ENSP00000351790:Q662H;ENSP00000441668:Q662H	.	Q	+	3	2	MYPN	69603841	0.999000	0.42202	0.981000	0.43875	0.624000	0.37722	2.403000	0.44530	0.676000	0.31285	0.655000	0.94253	CAG		0.403	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		50	148	0	0	0	0.00361	0	50	148				
KIAA1279	26128	broad.mit.edu	37	10	70776115	70776115	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:70776115G>T	ENST00000361983.4	+	7	1911	c.1809G>T	c.(1807-1809)atG>atT	p.M603I		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	603					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)	p.M603I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GTAAAGAGATGGTTAGTCTTC	0.373																																							uc001joy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1807-1809)ATG>ATT		KIF1 binding protein							49.0	51.0	50.0					10																	70776115		2203	4300	6503	SO:0001583	missense	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70776115G>T	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1809G>T	10.37:g.70776115G>T	ENSP00000354848:p.Met603Ile						p.M603I	NM_015634	NP_056449	Q96EK5	KBP_HUMAN			7	1905	+			603					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	c.1809G>T	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.381121	0.82792	.	.	ENSG00000198954	ENST00000361983	T	0.62941	-0.01	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.80226	0.4584	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.80984	-0.1138	10	0.56958	D	0.05	-20.292	19.6895	0.95993	0.0:0.0:1.0:0.0	.	603	Q96EK5	KBP_HUMAN	I	603	ENSP00000354848:M603I	ENSP00000354848:M603I	M	+	3	0	KIAA1279	70446121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.771000	0.98977	2.644000	0.89710	0.591000	0.81541	ATG		0.373	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		31	72	1	0	1.08312e-15	0.009535	1.58925e-15	31	72				
LGI1	9211	broad.mit.edu	37	10	95517964	95517964	+	Silent	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:95517964T>C	ENST00000371418.4	+	1	323	c.63T>C	c.(61-63)taT>taC	p.Y21Y	LGI1_ENST00000371413.3_Silent_p.Y21Y|LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000542308.1_Silent_p.Y21Y	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	21					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.Y21Y(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GAATTGCTTATTTCCTATGTC	0.443																																							uc001kjc.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(61-63)TAT>TAC		leucine-rich, glioma inactivated 1 precursor							121.0	129.0	126.0					10																	95517964		2203	4300	6503	SO:0001819	synonymous_variant	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95517964T>C	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.63T>C	10.37:g.95517964T>C						LGI1_uc010qnv.1_Silent_p.Y21Y|LGI1_uc001kjd.3_Silent_p.Y21Y|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_RNA	p.Y21Y	NM_005097	NP_005088	O95970	LGI1_HUMAN			1	399	+		Colorectal(252;0.124)	21					A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	c.63T>C	CCDS7431.1																																																																																				0.443	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		15	77	0	0	0	0.00499	0	15	77				
C10orf76	79591	broad.mit.edu	37	10	103761774	103761774	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:103761774C>A	ENST00000370033.4	-	15	1223	c.1104G>T	c.(1102-1104)ctG>ctT	p.L368L		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	368						integral component of membrane (GO:0016021)		p.L368L(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAAAGGTTATCAGTAGATTAC	0.423																																							uc009xwy.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1102-1104)CTG>CTT		hypothetical protein LOC79591							157.0	158.0	158.0					10																	103761774		1897	4103	6000	SO:0001819	synonymous_variant	79591					integral to membrane		g.chr10:103761774C>A	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1104G>T	10.37:g.103761774C>A							p.L368L	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)	15	1206	-		Colorectal(252;0.123)	368					Q2TB87|Q9H8Z9	Silent	SNP	ENST00000370033.4	37	c.1104G>T	CCDS41563.1																																																																																				0.423	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050007.1	NM_024541		42	175	1	0	1.23713e-20	0.00361	1.93263e-20	42	175				
SORCS3	22986	broad.mit.edu	37	10	106907472	106907472	+	Missense_Mutation	SNP	G	G	T	rs147155519		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:106907472G>T	ENST00000369701.3	+	9	1627	c.1400G>T	c.(1399-1401)cGt>cTt	p.R467L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	467					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.R467L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGACACGCGTGGGATTTAC	0.453																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(1399-1401)CGT>CTT		VPS10 domain receptor protein SORCS 3 precursor		G	LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	250.0	199.0	217.0		1400	4.5	0.9	10	dbSNP_134	217	0,8598		0,0,4299	no	missense	SORCS3	NM_014978.1	102	0,1,6501	TT,TG,GG		0.0,0.0227,0.0077	benign	467/1223	106907472	1,13003	2203	4299	6502	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106907472G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1400G>T	10.37:g.106907472G>T	ENSP00000358715:p.Arg467Leu						p.R467L	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	9	1627	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	467			Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1400G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154106	0.57259	2.27E-4	0.0	ENSG00000156395	ENST00000369701	T	0.22945	1.93	5.42	4.52	0.55395	VPS10 (1);	0.270717	0.37393	N	0.002119	T	0.29684	0.0741	M	0.72894	2.215	0.51767	D	0.999933	P	0.36974	0.576	B	0.30782	0.12	T	0.25572	-1.0128	10	0.72032	D	0.01	.	16.5951	0.84794	0.0:0.1303:0.8697:0.0	.	467	Q9UPU3	SORC3_HUMAN	L	467	ENSP00000358715:R467L	ENSP00000358715:R467L	R	+	2	0	SORCS3	106897462	0.971000	0.33674	0.896000	0.35187	0.850000	0.48378	4.718000	0.61930	1.424000	0.47217	-0.172000	0.13284	CGT		0.453	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		26	74	1	0	4.87955e-14	0.005443	6.96445e-14	26	74				
HABP2	3026	broad.mit.edu	37	10	115345649	115345649	+	Missense_Mutation	SNP	T	T	A	rs148362361	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:115345649T>A	ENST00000351270.3	+	12	1566	c.1470T>A	c.(1468-1470)agT>agA	p.S490R	HABP2_ENST00000542051.1_Missense_Mutation_p.S464R	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	490	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.S490R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	TTGATGACAGTATGATCTGTG	0.512																																							uc001lai.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1468-1470)AGT>AGA		hyaluronan binding protein 2 preproprotein							103.0	88.0	93.0					10																	115345649		2203	4300	6503	SO:0001583	missense	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115345649T>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1470T>A	10.37:g.115345649T>A	ENSP00000277903:p.Ser490Arg						p.S490R	NM_004132	NP_004123	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	12	1573	+		Colorectal(252;0.0233)|Breast(234;0.0672)	490			Peptidase S1.		A8K467|B7Z8U5|F5H5M6|O00663	Missense_Mutation	SNP	ENST00000351270.3	37	c.1470T>A	CCDS7577.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.918068	0.73098	.	.	ENSG00000148702	ENST00000542051;ENST00000351270	D;D	0.93307	-3.2;-3.2	5.93	-0.256	0.12984	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.446031	0.28499	N	0.015137	D	0.90219	0.6942	N	0.11106	0.095	0.80722	D	1	D	0.56968	0.978	D	0.63113	0.911	D	0.87323	0.2319	10	0.66056	D	0.02	.	10.4914	0.44752	0.0:0.6229:0.0:0.3771	.	490	Q14520	HABP2_HUMAN	R	464;490	ENSP00000443283:S464R;ENSP00000277903:S490R	ENSP00000277903:S490R	S	+	3	2	HABP2	115335639	0.950000	0.32346	0.871000	0.34182	0.817000	0.46193	1.000000	0.29770	-0.317000	0.08677	-0.408000	0.06270	AGT		0.512	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		27	56	0	0	0	0.005443	0	27	56				
NRAP	4892	broad.mit.edu	37	10	115381717	115381717	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:115381717C>A	ENST00000359988.3	-	24	2924	c.2680G>T	c.(2680-2682)Ggc>Tgc	p.G894C	NRAP_ENST00000360478.3_Missense_Mutation_p.G859C|NRAP_ENST00000369358.4_Missense_Mutation_p.G902C|NRAP_ENST00000369360.3_Missense_Mutation_p.G867C	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.G894C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTCTTGTAGCCTACGTCTGTG	0.522																																							uc001laj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(2680-2682)GGC>TGC		nebulin-related anchoring protein isoform S							294.0	223.0	247.0					10																	115381717		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115381717C>A		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.2680G>T	10.37:g.115381717C>A	ENSP00000353078:p.Gly894Cys					NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.G859C|NRAP_uc001lal.3_Missense_Mutation_p.G894C	p.G894C	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	24	2844	-		Colorectal(252;0.0233)|Breast(234;0.188)	894			Nebulin 22.			Missense_Mutation	SNP	ENST00000359988.3	37	c.2680G>T	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227869	0.79576	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.99	5.99	0.97316	.	0.217471	0.49305	D	0.000160	T	0.48259	0.1490	L	0.46157	1.445	0.40565	D	0.981247	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.76071	0.971;0.987;0.894	T	0.41413	-0.9510	10	0.59425	D	0.04	.	13.6422	0.62257	0.0:0.9298:0.0:0.0702	.	894;859;894	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	C	902;867;894;859	ENSP00000358365:G902C;ENSP00000358367:G867C;ENSP00000353078:G894C;ENSP00000353666:G859C	ENSP00000353078:G894C	G	-	1	0	NRAP	115371707	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.909000	0.56363	2.840000	0.97914	0.655000	0.94253	GGC		0.522	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		41	99	1	0	5.2432e-18	0.00361	7.99207e-18	41	99				
PPP2R2D	55844	broad.mit.edu	37	10	133758920	133758920	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:133758920G>A	ENST00000422256.2	+	4	581	c.96G>A	c.(94-96)ctG>ctA	p.L32L	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	259					exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.L32L(1)|p.L228L(1)		endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CCATCCGCCTGTGTGACATGC	0.582																																							uc001lks.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(676-678)CTG>CTA		protein phosphatase 2, regulatory subunit B,							115.0	121.0	119.0					10																	133758920		2202	4300	6502	SO:0001819	synonymous_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133758920G>A	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.96G>A	10.37:g.133758920G>A						PPP2R2D_uc001lkr.2_Silent_p.L32L|PPP2R2D_uc001lkt.2_Silent_p.L32L|PPP2R2D_uc009yay.2_Silent_p.L94L	p.L226L	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	5	921	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	259			WD 4.		A8KAK0|Q5SQJ2|Q9P1Y7	Silent	SNP	ENST00000422256.2	37	c.678G>A																																																																																					0.582	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461		14	61	0	0	0	0.006122	0	14	61				
TUBGCP2	10844	broad.mit.edu	37	10	135102477	135102477	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr10:135102477G>A	ENST00000252936.3	-	9	1447	c.1408C>T	c.(1408-1410)Ccg>Tcg	p.P470S	TUBGCP2_ENST00000417178.2_Missense_Mutation_p.P340S|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.P498S|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.P470S|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.P63S			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	470					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.P470S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TTAGCCACCGGGCAGGTGACG	0.478																																							uc001lmg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1408-1410)CCG>TCG		tubulin, gamma complex associated protein 2							157.0	125.0	136.0					10																	135102477		2203	4300	6503	SO:0001583	missense	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135102477G>A	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1408C>T	10.37:g.135102477G>A	ENSP00000252936:p.Pro470Ser					TUBGCP2_uc001lmf.1_Missense_Mutation_p.P63S|TUBGCP2_uc010qvc.1_Missense_Mutation_p.P498S|TUBGCP2_uc009ybk.1_Missense_Mutation_p.P470S|TUBGCP2_uc010qvd.1_Missense_Mutation_p.P340S|TUBGCP2_uc001lmh.1_RNA	p.P470S	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	10	1765	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	470					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	c.1408C>T	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263078	0.80358	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000368562;ENST00000543663	T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	M	0.63428	1.95	0.80722	D	1	P;P;P	0.46395	0.851;0.877;0.642	P;P;P	0.54026	0.623;0.74;0.673	T	0.04551	-1.0943	10	0.08837	T	0.75	-34.8314	17.6603	0.88191	0.0:0.0:1.0:0.0	.	498;498;470	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	S	470;340;470;63;498	ENSP00000252936:P470S;ENSP00000395666:P340S;ENSP00000357551:P470S;ENSP00000357550:P63S;ENSP00000446093:P498S	ENSP00000252936:P470S	P	-	1	0	TUBGCP2	134952467	1.000000	0.71417	0.997000	0.53966	0.625000	0.37756	9.422000	0.97458	2.595000	0.87683	0.561000	0.74099	CCG		0.478	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			32	110	0	0	0	0.005524	0	32	110				
HBD	3045	broad.mit.edu	37	11	5255339	5255339	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:5255339T>C	ENST00000380299.3	-	2	411	c.197A>G	c.(196-198)aAg>aGg	p.K66R	HBD_ENST00000292901.3_Missense_Mutation_p.K66R	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	66					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.K66R(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGCACCTTCTTGCCATGAGC	0.542																																							uc001maf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)AAG>AGG		delta globin							161.0	138.0	146.0					11																	5255339		2201	4298	6499	SO:0001583	missense	3045				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5255339T>C	AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.197A>G	11.37:g.5255339T>C	ENSP00000369654:p.Lys66Arg						p.K66R	NM_000519	NP_000510	P02042	HBD_HUMAN		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	392	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	66					Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	c.197A>G	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460255	0.43736	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.93189	-3.18;-3.18;-3.18	4.33	1.71	0.24356	Globin-like (1);Globin, structural domain (1);	0.720818	0.13726	N	0.367015	D	0.91660	0.7364	M	0.66297	2.02	0.22457	N	0.999089	B	0.21147	0.052	B	0.29440	0.102	D	0.85206	0.1018	10	0.48119	T	0.1	-1.4528	10.3709	0.44053	0.0:0.0:0.3065:0.6935	.	66	P02042	HBD_HUMAN	R	66	ENSP00000292901:K66R;ENSP00000369654:K66R;ENSP00000393810:K66R	ENSP00000292901:K66R	K	-	2	0	HBD	5211915	0.328000	0.24687	1.000000	0.80357	0.945000	0.59286	0.342000	0.19926	0.763000	0.33175	0.477000	0.44152	AAG		0.542	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519		37	71	0	0	0	0.00361	0	37	71				
CCKBR	887	broad.mit.edu	37	11	6291976	6291976	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:6291976G>A	ENST00000334619.2	+	4	947	c.754G>A	c.(754-756)Gac>Aac	p.D252N	CCKBR_ENST00000532715.1_Missense_Mutation_p.D168N|CCKBR_ENST00000525462.1_Missense_Mutation_p.D252N	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	252					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.D252N(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTTCGCTTTGACGGCGACAG	0.607																																							uc001mcp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|ovary(2)|breast(1)	8						c.(754-756)GAC>AAC		cholecystokinin B receptor	Pentagastrin(DB00183)						113.0	87.0	96.0					11																	6291976		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291976G>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.754G>A	11.37:g.6291976G>A	ENSP00000335544:p.Asp252Asn					CCKBR_uc001mcq.2_Missense_Mutation_p.D180N|CCKBR_uc001mcr.2_Missense_Mutation_p.D252N|CCKBR_uc001mcs.2_Missense_Mutation_p.D252N|CCKBR_uc001mct.1_5'Flank	p.D252N	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	947	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	252			Cytoplasmic (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.754G>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119979	0.77323	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.71579	-0.58;-0.58;-0.58	5.13	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.101217	0.64402	D	0.000003	T	0.77935	0.4205	L	0.58669	1.825	0.30603	N	0.760266	P;P;P	0.47910	0.902;0.837;0.866	B;P;P	0.56916	0.415;0.642;0.809	T	0.79097	-0.1943	10	0.72032	D	0.01	.	13.6704	0.62420	0.0:0.0:0.8443:0.1557	.	252;186;252	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	N	252;168;252	ENSP00000335544:D252N;ENSP00000432079:D168N;ENSP00000435534:D252N	ENSP00000335544:D252N	D	+	1	0	CCKBR	6248552	1.000000	0.71417	0.978000	0.43139	0.933000	0.57130	8.165000	0.89663	1.340000	0.45581	0.563000	0.77884	GAC		0.607	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		25	57	0	0	0	0.007291	0	25	57				
MRGPRX4	117196	broad.mit.edu	37	11	18195006	18195006	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:18195006T>C	ENST00000314254.3	+	1	623	c.203T>C	c.(202-204)cTg>cCg	p.L68P	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L68P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCTCAACCTGGCCGCAGCA	0.527																																							uc001mnv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(202-204)CTG>CCG		MAS-related GPR, member X4							115.0	97.0	103.0					11																	18195006		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195006T>C	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.203T>C	11.37:g.18195006T>C	ENSP00000314042:p.Leu68Pro						p.L68P	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	623	+			68			Helical; Name=2; (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.203T>C	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.765665	0.49574	.	.	ENSG00000179817	ENST00000314254	D	0.91521	-2.86	2.95	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000114	D	0.95831	0.8643	H	0.96142	3.775	0.47994	D	0.999562	D	0.89917	1.0	D	0.97110	1.0	D	0.93636	0.6960	10	0.87932	D	0	.	6.5196	0.22266	0.0:0.1283:0.0:0.8717	.	68	Q96LA9	MRGX4_HUMAN	P	68	ENSP00000314042:L68P	ENSP00000314042:L68P	L	+	2	0	MRGPRX4	18151582	1.000000	0.71417	0.399000	0.26333	0.057000	0.15508	4.007000	0.57093	0.353000	0.24079	-0.513000	0.04457	CTG		0.527	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		29	59	0	0	0	0.010818	0	29	59				
ANO3	63982	broad.mit.edu	37	11	26677674	26677674	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:26677674G>T	ENST00000256737.3	+	25	3431	c.2579G>T	c.(2578-2580)tGc>tTc	p.C860F	ANO3_ENST00000525139.1_Missense_Mutation_p.C844F|ANO3_ENST00000531568.1_Missense_Mutation_p.C714F|ANO3_ENST00000537978.1_Missense_Mutation_p.C844F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	860					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.C860F(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCTCCCAGTTGCTTGAAGGGA	0.328																																							uc001mqt.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2578-2580)TGC>TTC		transmembrane protein 16C							156.0	154.0	155.0					11																	26677674		2203	4299	6502	SO:0001583	missense	63982					chloride channel complex	chloride channel activity	g.chr11:26677674G>T	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2579G>T	11.37:g.26677674G>T	ENSP00000256737:p.Cys860Phe					ANO3_uc010rdr.1_Missense_Mutation_p.C844F|ANO3_uc010rds.1_Missense_Mutation_p.C699F|ANO3_uc010rdt.1_Missense_Mutation_p.C714F	p.C860F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			25	2724	+			860			Extracellular (Potential).		B7Z3F5	Missense_Mutation	SNP	ENST00000256737.3	37	c.2579G>T	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793614	0.70452	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.80160	0.4572	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.82139	-0.0605	10	0.72032	D	0.01	.	19.0449	0.93015	0.0:0.0:1.0:0.0	.	762;860	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	F	844;844;860;762;714	ENSP00000440737:C844F;ENSP00000432576:C844F;ENSP00000256737:C860F;ENSP00000432394:C714F	ENSP00000256737:C860F	C	+	2	0	ANO3	26634250	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	8.787000	0.91830	2.476000	0.83614	0.650000	0.86243	TGC		0.328	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		29	78	1	0	8.4185e-14	0.012213	1.19611e-13	29	78				
SLC5A12	159963	broad.mit.edu	37	11	26725452	26725452	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:26725452C>A	ENST00000396005.3	-	5	877	c.568G>T	c.(568-570)Gtt>Ttt	p.V190F	SLC5A12_ENST00000280467.6_Missense_Mutation_p.V190F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	190					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.V190F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATCATGACAACCATCTGAAAT	0.423																																							uc001mra.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(568-570)GTT>TTT		solute carrier family 5 (sodium/glucose							229.0	205.0	213.0					11																	26725452		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725452C>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.568G>T	11.37:g.26725452C>A	ENSP00000379326:p.Val190Phe					SLC5A12_uc001mrb.2_RNA|SLC5A12_uc001mrc.3_Missense_Mutation_p.V190F	p.V190F	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			5	881	-			190			Helical; (Potential).		Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.568G>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334773	0.41297	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.89196	-2.48;-2.48;-2.48	5.16	2.27	0.28462	.	0.219310	0.37136	N	0.002225	D	0.87609	0.6220	L	0.45228	1.405	0.43485	D	0.99571	B;P	0.41498	0.002;0.752	B;P	0.49597	0.012;0.616	D	0.85094	0.0953	10	0.49607	T	0.09	.	10.1486	0.42780	0.0:0.796:0.0:0.204	.	190;190	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	F	190;190;2	ENSP00000379326:V190F;ENSP00000280467:V190F;ENSP00000435053:V2F	ENSP00000280467:V190F	V	-	1	0	SLC5A12	26682028	0.993000	0.37304	1.000000	0.80357	0.966000	0.64601	0.474000	0.22148	0.580000	0.29522	0.484000	0.47621	GTT		0.423	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		26	236	1	0	5.49717e-05	0.00333	6.36941e-05	26	236				
OR4A15	81328	broad.mit.edu	37	11	55135855	55135855	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:55135855C>T	ENST00000314706.3	+	1	496	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R166C(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CACCATGAATCGTCGAGTCTG	0.438																																							uc010rif.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(496-498)CGT>TGT		olfactory receptor, family 4, subfamily A,							230.0	209.0	216.0					11																	55135855		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135855C>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.496C>T	11.37:g.55135855C>T	ENSP00000325065:p.Arg166Cys						p.R166C	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	496	+			166			Cytoplasmic (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.496C>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	3.499	-0.102251	0.06967	.	.	ENSG00000181958	ENST00000314706	T	0.01388	4.95	3.48	2.56	0.30785	GPCR, rhodopsin-like superfamily (1);	0.152917	0.30501	N	0.009498	T	0.03520	0.0101	M	0.91510	3.215	0.09310	N	1	B	0.25105	0.118	B	0.18561	0.022	T	0.18840	-1.0324	10	0.72032	D	0.01	.	8.3682	0.32399	0.0:0.8786:0.0:0.1214	.	166	Q8NGL6	O4A15_HUMAN	C	166	ENSP00000325065:R166C	ENSP00000325065:R166C	R	+	1	0	OR4A15	54892431	0.000000	0.05858	0.142000	0.22268	0.030000	0.12068	-3.854000	0.00350	0.676000	0.31285	0.492000	0.49549	CGT		0.438	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		105	329	0	0	0	0.00361	0	105	329				
OR5W2	390148	broad.mit.edu	37	11	55681403	55681403	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:55681403C>T	ENST00000344514.1	-	1	655	c.656G>A	c.(655-657)tGt>tAt	p.C219Y		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C219Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATGATATAACAATAAGAAAT	0.408																																					Melanoma(48;171 1190 15239 43886 49348)	Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(655-657)TGT>TAT		olfactory receptor, family 5, subfamily W,							57.0	63.0	61.0					11																	55681403		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681403C>T	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.656G>A	11.37:g.55681403C>T	ENSP00000342448:p.Cys219Tyr						p.C219Y	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	656	-			219			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.656G>A	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	0.555	-0.847690	0.02651	.	.	ENSG00000187612	ENST00000344514	T	0.00084	8.75	5.0	2.99	0.34606	GPCR, rhodopsin-like superfamily (1);	0.162995	0.29335	N	0.012449	T	0.00109	0.0003	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.08432	-1.0722	10	0.27082	T	0.32	.	7.404	0.26981	0.3372:0.4991:0.1636:0.0	.	219	Q8NH69	OR5W2_HUMAN	Y	219	ENSP00000342448:C219Y	ENSP00000342448:C219Y	C	-	2	0	OR5W2	55437979	0.000000	0.05858	0.027000	0.17364	0.515000	0.34225	-0.980000	0.03770	1.087000	0.41251	-0.296000	0.09543	TGT		0.408	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		26	81	0	0	0	0.007291	0	26	81				
OR5W2	390148	broad.mit.edu	37	11	55681593	55681593	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:55681593C>G	ENST00000344514.1	-	1	465	c.466G>C	c.(466-468)Gct>Cct	p.A156P		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A156P(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTATCAAAGCATCTGCTATT	0.448																																					Melanoma(48;171 1190 15239 43886 49348)	Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(466-468)GCT>CCT		olfactory receptor, family 5, subfamily W,							82.0	72.0	75.0					11																	55681593		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681593C>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.466G>C	11.37:g.55681593C>G	ENSP00000342448:p.Ala156Pro						p.A156P	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	466	-			156			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.466G>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585130	0.28268	.	.	ENSG00000187612	ENST00000344514	T	0.42131	0.98	5.01	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.182670	0.26450	N	0.024317	T	0.55641	0.1933	M	0.67397	2.05	0.09310	N	1	D	0.53745	0.962	D	0.64410	0.925	T	0.48875	-0.8996	10	0.87932	D	0	.	6.3228	0.21227	0.1852:0.7216:0.0:0.0932	.	156	Q8NH69	OR5W2_HUMAN	P	156	ENSP00000342448:A156P	ENSP00000342448:A156P	A	-	1	0	OR5W2	55438169	0.000000	0.05858	0.164000	0.22755	0.127000	0.20565	-0.597000	0.05713	1.063000	0.40649	0.549000	0.68633	GCT		0.448	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960		22	123	0	0	0	0.00333	0	22	123				
MS4A12	54860	broad.mit.edu	37	11	60274525	60274525	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:60274525C>A	ENST00000016913.4	+	7	789	c.732C>A	c.(730-732)agC>agA	p.S244R	MS4A12_ENST00000537076.1_Missense_Mutation_p.S198R	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	244						integral component of membrane (GO:0016021)		p.S244R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGTATGAAAGCAACCCTGTGA	0.408																																							uc001npr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(730-732)AGC>AGA		membrane-spanning 4-domains, subfamily A, member							141.0	139.0	140.0					11																	60274525		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60274525C>A	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.732C>A	11.37:g.60274525C>A	ENSP00000016913:p.Ser244Arg						p.S244R	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN			7	789	+			244			Cytoplasmic (Potential).		F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.732C>A	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	c	8.780	0.928012	0.18131	.	.	ENSG00000071203	ENST00000537076;ENST00000016913	T;T	0.23348	1.91;3.47	4.3	0.294	0.15747	.	23.889500	0.00649	N	0.000548	T	0.13500	0.0327	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.15780	-1.0425	10	0.28530	T	0.3	-2.4576	4.2369	0.10630	0.0:0.5397:0.1692:0.2911	.	244	Q9NXJ0	M4A12_HUMAN	R	198;244	ENSP00000440424:S198R;ENSP00000016913:S244R	ENSP00000016913:S244R	S	+	3	2	MS4A12	60031101	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.008000	0.13197	-0.018000	0.14079	-0.970000	0.02610	AGC		0.408	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			20	113	1	0	9.86323e-18	0.003954	1.48897e-17	20	113				
MACROD1	28992	broad.mit.edu	37	11	63918756	63918756	+	Missense_Mutation	SNP	G	G	A	rs143192829		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:63918756G>A	ENST00000255681.6	-	3	538	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	158	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.R158C(1)		breast(1)|large_intestine(3)|lung(6)|skin(1)	11						ATGTCGCTGCGGAGCAGGGAG	0.602																																							uc001nyh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(472-474)CGC>TGC		MACRO domain containing 1		G	CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	178.0	145.0	156.0		472	3.9	1.0	11	dbSNP_134	156	0,8594		0,0,4297	no	missense	MACROD1	NM_014067.3	180	0,2,6496	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	158/326	63918756	2,12994	2201	4297	6498	SO:0001583	missense	28992							g.chr11:63918756G>A	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.472C>T	11.37:g.63918756G>A	ENSP00000255681:p.Arg158Cys						p.R158C	NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN			3	591	-			158			Macro.		Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.472C>T	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059728	0.36373	4.54E-4	0.0	ENSG00000133315	ENST00000255681	T	0.24538	1.85	3.86	3.86	0.44501	Appr-1-p processing (2);	0.143614	0.45606	D	0.000348	T	0.24928	0.0605	M	0.77486	2.375	0.47183	D	0.999349	P	0.47762	0.9	B	0.33042	0.157	T	0.25012	-1.0144	10	0.62326	D	0.03	-5.8372	10.4178	0.44333	0.0:0.0:0.8044:0.1956	.	158	Q9BQ69	MACD1_HUMAN	C	158	ENSP00000255681:R158C	ENSP00000255681:R158C	R	-	1	0	MACROD1	63675332	1.000000	0.71417	0.974000	0.42286	0.648000	0.38561	1.764000	0.38471	1.891000	0.54761	0.462000	0.41574	CGC		0.602	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		14	75	0	0	0	0.00245	0	14	75				
RNF121	55298	broad.mit.edu	37	11	71693869	71693869	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:71693869G>T	ENST00000361756.3	+	4	667	c.306G>T	c.(304-306)tgG>tgT	p.W102C	RNF121_ENST00000393713.3_Missense_Mutation_p.W70C|RNF121_ENST00000545854.1_Missense_Mutation_p.W21C|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000530137.1_Missense_Mutation_p.W70C	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	102						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.W102C(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TGCACTGGTGGAGGTTCCTAG	0.502																																							uc001ora.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(304-306)TGG>TGT		ring finger protein 121							262.0	220.0	234.0					11																	71693869		2200	4293	6493	SO:0001583	missense	55298					integral to membrane	zinc ion binding	g.chr11:71693869G>T	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.306G>T	11.37:g.71693869G>T	ENSP00000354571:p.Trp102Cys					RNF121_uc001ord.2_Missense_Mutation_p.W21C|RNF121_uc001orb.2_Missense_Mutation_p.W70C|RNF121_uc009yst.2_Missense_Mutation_p.W70C	p.W102C	NM_018320	NP_060790	Q9H920	RN121_HUMAN			4	646	+			102			Helical; (Potential).		B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	ENST00000361756.3	37	c.306G>T	CCDS8203.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341149	0.81911	.	.	ENSG00000137522	ENST00000361756;ENST00000393713;ENST00000545854;ENST00000530137	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.84326	2.69	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.998	D;P;P	0.65987	0.94;0.893;0.873	D	0.84516	0.0625	10	0.62326	D	0.03	-3.1074	17.6384	0.88129	0.0:0.0:1.0:0.0	.	70;70;102	C9JQY5;G3V148;Q9H920	.;.;RN121_HUMAN	C	102;70;21;70	ENSP00000354571:W102C;ENSP00000377316:W70C;ENSP00000443799:W21C;ENSP00000431286:W70C	ENSP00000354571:W102C	W	+	3	0	RNF121	71371517	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.991000	0.93514	2.697000	0.92050	0.591000	0.81541	TGG		0.502	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		45	152	1	0	8.0703e-11	0.00361	1.10658e-10	45	152				
ELMOD1	55531	broad.mit.edu	37	11	107501260	107501260	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:107501260G>T	ENST00000265840.7	+	3	400	c.135G>T	c.(133-135)aaG>aaT	p.K45N	ELMOD1_ENST00000531234.1_Missense_Mutation_p.K39N|ELMOD1_ENST00000443271.2_Missense_Mutation_p.K45N	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	45					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)	p.K45N(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ATAATACCAAGCCGGGAGCTT	0.408																																							uc010rvs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(133-135)AAG>AAT		ELMO/CED-12 domain containing 1 isoform 1							63.0	59.0	60.0					11																	107501260		1854	4090	5944	SO:0001583	missense	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107501260G>T	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.135G>T	11.37:g.107501260G>T	ENSP00000265840:p.Lys45Asn					ELMOD1_uc001pjm.2_Missense_Mutation_p.K45N|ELMOD1_uc010rvt.1_Missense_Mutation_p.K39N	p.K45N	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	3	539	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	45					B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	ENST00000265840.7	37	c.135G>T	CCDS44723.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859912	0.32884	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.62	3.59	0.41128	.	0.063428	0.64402	U	0.000013	T	0.49321	0.1550	L	0.50333	1.59	0.58432	D	0.999997	B;P	0.36222	0.409;0.544	B;B	0.36845	0.052;0.234	T	0.32824	-0.9892	9	0.27082	T	0.32	.	10.7183	0.46026	0.2049:0.0:0.7951:0.0	.	45;45	Q8N336;G5E9S5	ELMD1_HUMAN;.	N	39;45;45	.	ENSP00000265840:K45N	K	+	3	2	ELMOD1	107006470	0.997000	0.39634	1.000000	0.80357	0.908000	0.53690	0.398000	0.20899	0.514000	0.28300	0.655000	0.94253	AAG		0.408	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	NM_018712		5	19	1	0	4.096e-09	0.001168	5.29277e-09	5	19				
ATM	472	broad.mit.edu	37	11	108160401	108160401	+	Nonsense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:108160401A>T	ENST00000452508.2	+	30	4498	c.4309A>T	c.(4309-4311)Aga>Tga	p.R1437*	ATM_ENST00000278616.4_Nonsense_Mutation_p.R1437*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1437					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R1437*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TAAGAAGCACAGAATTCTTAA	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Nonsense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(4309-4311)AGA>TGA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							54.0	56.0	55.0					11																	108160401		2201	4295	6496	SO:0001587	stop_gained	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108160401A>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.4309A>T	11.37:g.108160401A>T	ENSP00000388058:p.Arg1437*	TSP Lung(14;0.12)				ATM_uc009yxr.1_Nonsense_Mutation_p.R1437*|ATM_uc001pkd.3_Nonsense_Mutation_p.R89*|ATM_uc001pke.1_Nonsense_Mutation_p.R89*|ATM_uc010rvw.1_Nonsense_Mutation_p.R89*|ATM_uc001pkf.2_Nonsense_Mutation_p.R89*	p.R1437*	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	29	4694	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1437					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	c.4309A>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	47	12.999633	0.99712	.	.	ENSG00000149311	ENST00000278616;ENST00000452508;ENST00000389511	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6125	0.51069	0.8513:0.1486:0.0:0.0	.	.	.	.	X	1437;1437;89	.	ENSP00000278616:R1437X	R	+	1	2	ATM	107665611	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.341000	0.65964	2.151000	0.67156	0.528000	0.53228	AGA		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		7	30	0	0	0	0.00308	0	7	30				
ABCG4	64137	broad.mit.edu	37	11	119024853	119024853	+	Splice_Site	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:119024853G>A	ENST00000449422.2	+	3	544	c.356G>A	c.(355-357)aGg>aAg	p.R119K	ABCG4_ENST00000307417.3_Splice_Site_p.R119K|ABCG4_ENST00000531739.1_Splice_Site_p.R119K	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	119	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R119K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCAGGATACAGGTAAGGAAGA	0.532																																							uc001pvs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(355-357)AGG>AAG		ATP-binding cassette, subfamily G, member 4							79.0	84.0	82.0					11																	119024853		2200	4295	6495	SO:0001630	splice_region_variant	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119024853G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.356+1G>A	11.37:g.119024853G>A						ABCG4_uc009zar.2_Missense_Mutation_p.R119K|ABCG4_uc001pvt.1_RNA	p.R119K	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	3	692	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	119			Cytoplasmic (Potential).|ABC transporter.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.356G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614244	0.46631	.	.	ENSG00000172350	ENST00000307417;ENST00000524604;ENST00000449422;ENST00000531739	T;D;T;T	0.93604	1.1;-3.25;1.1;1.1	5.67	5.67	0.87782	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.141208	0.64402	D	0.000007	D	0.85084	0.5616	N	0.03324	-0.35	0.80722	D	1	P	0.47484	0.896	P	0.45753	0.492	D	0.84562	0.0650	10	0.06236	T	0.91	-27.287	17.3075	0.87199	0.0:0.0:1.0:0.0	.	119	Q9H172	ABCG4_HUMAN	K	119	ENSP00000304111:R119K;ENSP00000431915:R119K;ENSP00000406874:R119K;ENSP00000434318:R119K	ENSP00000304111:R119K	R	+	2	0	ABCG4	118530063	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.860000	0.99555	2.694000	0.91930	0.485000	0.47835	AGG		0.532	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169	Missense_Mutation	23	91	0	0	0	0.00632	0	23	91				
BLID	414899	broad.mit.edu	37	11	121986476	121986476	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:121986476C>G	ENST00000560104.1	-	1	447	c.155G>C	c.(154-156)gGt>gCt	p.G52A		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	52					apoptotic process (GO:0006915)	mitochondrion (GO:0005739)		p.G52A(1)		NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		TTTGTTGGAACCCAAGAGCGC	0.498											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001pyf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(154-156)GGT>GCT		BRCC2 protein							122.0	123.0	123.0					11																	121986476		2202	4299	6501	SO:0001583	missense	414899				apoptosis	mitochondrion		g.chr11:121986476C>G	AF303179	CCDS31693.1	11q24.1	2007-06-22				ENSG00000259571			33495	protein-coding gene	gene with protein product	"""breast cancer cell 2"""	608853				15069058, 17220890	Standard	NM_001001786		Approved	BRCC2	uc001pyf.3	Q8IZY5		ENST00000560104.1:c.155G>C	11.37:g.121986476C>G	ENSP00000453153:p.Gly52Ala		OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1515	LOC399959_uc009zba.2_Intron	p.G52A	NM_001001786	NP_001001786	Q8IZY5	BLID_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)	1	448	-		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	52					A1L416	Missense_Mutation	SNP	ENST00000560104.1	37	c.155G>C	CCDS31693.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321571	0.23994	.	.	ENSG00000258606;ENSG00000258574	ENST00000553434;ENST00000556841	.	.	.	3.77	0.73	0.18271	.	.	.	.	.	T	0.16685	0.0401	N	0.08118	0	0.09310	N	1	B	0.33612	0.419	B	0.30572	0.117	T	0.16129	-1.0413	8	0.87932	D	0	.	5.4785	0.16710	0.0:0.5981:0.0:0.4019	.	52	Q8IZY5	BLID_HUMAN	A	52	.	ENSP00000448995:G52A	G	-	2	0	BLID;AP001924.1	121491686	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-1.067000	0.03451	0.154000	0.19237	-0.216000	0.12614	GGT		0.498	BLID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387656.1	NM_001001786		37	151	0	0	0	0.00874	0	37	151				
PRDM10	56980	broad.mit.edu	37	11	129817146	129817146	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr11:129817146C>T	ENST00000360871.3	-	5	645	c.414G>A	c.(412-414)gaG>gaA	p.E138E	PRDM10_ENST00000526082.1_Silent_p.E52E|PRDM10_ENST00000528746.1_Silent_p.E112E|PRDM10_ENST00000423662.2_Silent_p.E52E|PRDM10_ENST00000304538.6_Silent_p.E52E|PRDM10_ENST00000358825.5_Silent_p.E138E	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.E138E(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGTCCTCATCCTCATCCTCTT	0.597																																							uc001qfm.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(412-414)GAG>GAA		PR domain containing 10 isoform 1							289.0	155.0	201.0					11																	129817146		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129817146C>T	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.414G>A	11.37:g.129817146C>T						PRDM10_uc001qfj.2_Silent_p.E52E|PRDM10_uc001qfk.2_Silent_p.E52E|PRDM10_uc001qfl.2_Silent_p.E52E|PRDM10_uc010sbx.1_Silent_p.E52E|PRDM10_uc001qfn.2_Silent_p.E138E|PRDM10_uc009zct.1_Silent_p.E170E	p.E138E	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	5	646	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	138					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.414G>A	CCDS8484.1																																																																																				0.597	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		13	99	0	0	0	0.003163	0	13	99				
KCNA5	3741	broad.mit.edu	37	12	5155110	5155110	+	Silent	SNP	C	C	A	rs200806291		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:5155110C>A	ENST00000252321.3	+	1	2026	c.1797C>A	c.(1795-1797)tcC>tcA	p.S599S		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	599					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.S599S(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TGCGGAGGTCCCTTTATGCCC	0.582																																							uc001qni.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(1795-1797)TCC>TCA		potassium voltage-gated channel, shaker-related							39.0	39.0	39.0					12																	5155110		2203	4300	6503	SO:0001819	synonymous_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5155110C>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1797C>A	12.37:g.5155110C>A							p.S599S	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	2026	+			599					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.1797C>A	CCDS8536.1																																																																																				0.582	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		20	42	1	0	3.62473e-10	0.001882	4.88483e-10	20	42				
ATF7IP	55729	broad.mit.edu	37	12	14634051	14634051	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:14634051C>T	ENST00000540793.1	+	12	3367	c.3212C>T	c.(3211-3213)cCa>cTa	p.P1071L	ATF7IP_ENST00000536444.1_Missense_Mutation_p.P1070L|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P1070L|ATF7IP_ENST00000544627.1_Missense_Mutation_p.P1079L|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P1071L			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1071					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.P1071L(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CCTGCACCACCAGCTCAGGCT	0.493																																							uc001rbw.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(3211-3213)CCA>CTA		activating transcription factor 7 interacting							86.0	84.0	85.0					12																	14634051		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14634051C>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3212C>T	12.37:g.14634051C>T	ENSP00000444589:p.Pro1071Leu					ATF7IP_uc001rbv.1_Missense_Mutation_p.P1070L|ATF7IP_uc001rbx.2_Missense_Mutation_p.P1070L|ATF7IP_uc001rby.3_Missense_Mutation_p.P1071L|ATF7IP_uc001rca.2_Missense_Mutation_p.P1071L	p.P1071L	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			13	3370	+			1071					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.3212C>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704300	0.88924	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.25912	2.0;1.77;1.98;1.99;2.0	5.43	5.43	0.79202	.	0.293982	0.29602	N	0.011685	T	0.37732	0.1014	L	0.48642	1.525	0.53688	D	0.999979	P;P;P	0.52842	0.86;0.86;0.956	P;P;P	0.51016	0.536;0.536;0.656	T	0.10590	-1.0623	10	0.72032	D	0.01	-3.3182	19.6057	0.95580	0.0:1.0:0.0:0.0	.	1070;1071;1070	G3V1U0;Q6VMQ6;Q6VMQ6-2	.;MCAF1_HUMAN;.	L	1071;1070;1070;1079;1071	ENSP00000261168:P1071L;ENSP00000443179:P1070L;ENSP00000445955:P1070L;ENSP00000440440:P1079L;ENSP00000444589:P1071L	ENSP00000261168:P1071L	P	+	2	0	ATF7IP	14525318	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	5.042000	0.64202	2.693000	0.91896	0.650000	0.86243	CCA		0.493	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		31	109	0	0	0	0.008361	0	31	109				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GTT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	p.G12V	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		4	20	1	0	0.00116845	0.001168	0.00129644	4	20				
ANO6	196527	broad.mit.edu	37	12	45823076	45823076	+	Silent	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:45823076A>G	ENST00000320560.8	+	20	2917	c.2715A>G	c.(2713-2715)ttA>ttG	p.L905L	ANO6_ENST00000441606.2_Silent_p.L887L|ANO6_ENST00000435642.1_Intron|ANO6_ENST00000425752.2_Intron|ANO6_ENST00000423947.3_Silent_p.L926L	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	905					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.L905L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATAACAATTTACGGCCAAAAT	0.353																																							uc001roo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(2713-2715)TTA>TTG		anoctamin 6 isoform a							39.0	39.0	39.0					12																	45823076		2203	4300	6503	SO:0001819	synonymous_variant	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45823076A>G	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2715A>G	12.37:g.45823076A>G						ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slf.1_Silent_p.L926L|ANO6_uc010slg.1_Silent_p.L887L	p.L905L	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			20	3050	+			905			Cytoplasmic (Potential).		A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Silent	SNP	ENST00000320560.8	37	c.2715A>G	CCDS31782.1																																																																																				0.353	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743		8	39	0	0	0	0.010729	0	8	39				
KRT84	3890	broad.mit.edu	37	12	52778968	52778968	+	Silent	SNP	G	G	T	rs370644585		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:52778968G>T	ENST00000257951.3	-	1	468	c.402C>A	c.(400-402)gcC>gcA	p.A134A	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	134	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)	p.A134A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGATAGATGGGGCTGCTGGGA	0.567																																							uc001sah.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(400-402)GCC>GCA		keratin, hair, basic, 4							172.0	172.0	172.0					12																	52778968		2203	4300	6503	SO:0001819	synonymous_variant	3890					keratin filament	structural constituent of epidermis	g.chr12:52778968G>T	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.402C>A	12.37:g.52778968G>T							p.A134A	NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	450	-	all_hematologic(5;0.12)		134			Head.		B2RA43|Q6ISB0|Q701L6	Silent	SNP	ENST00000257951.3	37	c.402C>A	CCDS8825.1																																																																																				0.567	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		88	223	1	0	6.09681e-45	0.00361	1.08773e-44	88	223				
KRT73	319101	broad.mit.edu	37	12	53012212	53012212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:53012212G>A	ENST00000305748.3	-	1	131	c.97C>T	c.(97-99)Cga>Tga	p.R33*		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	33	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R33*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCCCTGCTCGGTAGGAGGAT	0.637																																							uc001sas.2		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(97-99)CGA>TGA		keratin 73							48.0	55.0	53.0					12																	53012212		2203	4300	6503	SO:0001587	stop_gained	319101					keratin filament	structural molecule activity	g.chr12:53012212G>A	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.97C>T	12.37:g.53012212G>A	ENSP00000307014:p.Arg33*						p.R33*	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	132	-			33			Head.|Gly-rich.		Q32MB2	Nonsense_Mutation	SNP	ENST00000305748.3	37	c.97C>T	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.403201	0.42613	.	.	ENSG00000186049	ENST00000305748	.	.	.	4.43	0.107	0.14544	.	0.274649	0.24343	N	0.039355	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.3002	0.32010	0.0819:0.0:0.2974:0.6207	.	.	.	.	X	33	.	ENSP00000307014:R33X	R	-	1	2	KRT73	51298479	0.000000	0.05858	0.023000	0.16930	0.025000	0.11179	-0.105000	0.10907	-0.090000	0.12462	0.655000	0.94253	CGA		0.637	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		31	87	0	0	0	0.004289	0	31	87				
EIF4B	1975	broad.mit.edu	37	12	53427638	53427638	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:53427638A>G	ENST00000262056.9	+	9	1354	c.1028A>G	c.(1027-1029)aAg>aGg	p.K343R	EIF4B_ENST00000420463.3_Missense_Mutation_p.K343R|EIF4B_ENST00000416762.3_Missense_Mutation_p.K304R|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	343				K -> E (in Ref. 1; CAA39265). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)	p.K343R(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						AGTACTCCTAAGGAAGATGAT	0.453																																							uc001sbh.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(1027-1029)AAG>AGG		eukaryotic translation initiation factor 4B							66.0	62.0	63.0					12																	53427638		1809	4077	5886	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53427638A>G	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1028A>G	12.37:g.53427638A>G	ENSP00000262056:p.Lys343Arg					EIF4B_uc010snu.1_Missense_Mutation_p.K343R|EIF4B_uc010snv.1_Missense_Mutation_p.K304R|EIF4B_uc001sbi.2_Missense_Mutation_p.K95R	p.K343R	NM_001417	NP_001408	P23588	IF4B_HUMAN			9	1234	+			343	K -> E (in Ref. 1; CAA39265).				Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.1028A>G	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.866847	0.72065	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481	D;T;T	0.94092	-3.35;0.85;0.83	4.76	3.59	0.41128	.	0.307861	0.32802	N	0.005633	D	0.95310	0.8478	M	0.70275	2.135	0.35842	D	0.826126	D;D;D;D	0.76494	0.999;0.997;0.999;0.998	D;D;D;D	0.81914	0.995;0.98;0.991;0.989	D	0.94999	0.8141	10	0.27785	T	0.31	.	11.1734	0.48584	0.8454:0.1546:0.0:0.0	.	304;343;319;343	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	R	343;343;319;304;298	ENSP00000262056:K343R;ENSP00000388806:K343R;ENSP00000449746:K298R	ENSP00000262056:K343R	K	+	2	0	EIF4B	51713905	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.500000	0.73687	0.907000	0.36646	0.377000	0.23210	AAG		0.453	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		19	34	0	0	0	0.001882	0	19	34				
NFE2	4778	broad.mit.edu	37	12	54686186	54686186	+	Missense_Mutation	SNP	C	C	T	rs141251053		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:54686186C>T	ENST00000540264.2	-	2	1603	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Missense_Mutation_p.R365Q|NFE2_ENST00000312156.4_Missense_Mutation_p.R365Q|NFE2_ENST00000553070.1_Missense_Mutation_p.R365Q			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	365					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|hemostasis (GO:0007599)|labyrinthine layer blood vessel development (GO:0060716)|multicellular organismal development (GO:0007275)|negative regulation of bone mineralization (GO:0030502)|negative regulation of syncytium formation by plasma membrane fusion (GO:0034242)|nucleosome disassembly (GO:0006337)|positive regulation of peptidyl-lysine acetylation (GO:2000758)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|WW domain binding (GO:0050699)	p.R365Q(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CTTGGTCCCCCGGGGCACAAG	0.562																																							uc009znk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1093-1095)CGG>CAG		nuclear factor, erythroid derived 2 isoform 1							55.0	53.0	54.0					12																	54686186		2203	4300	6503	SO:0001583	missense	4778				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	g.chr12:54686186C>T	BC005044	CCDS8876.1	12q13	2013-08-23	2013-08-23			ENSG00000123405		"""basic leucine zipper proteins"""	7780	protein-coding gene	gene with protein product		601490	"""nuclear factor (erythroid-derived 2), 45kD"", ""nuclear factor (erythroid-derived 2), 45kDa"""			8355703	Standard	NM_001136023		Approved	NF-E2	uc001sfr.5	Q16621		ENST00000540264.2:c.1094G>A	12.37:g.54686186C>T	ENSP00000439120:p.Arg365Gln					NFE2_uc001sfq.2_Missense_Mutation_p.R365Q|NFE2_uc001sfr.3_Missense_Mutation_p.R365Q|NFE2_uc009znl.2_Missense_Mutation_p.R365Q	p.R365Q	NM_006163	NP_006154	Q16621	NFE2_HUMAN			2	1604	-			365					Q07720|Q6ICV9	Missense_Mutation	SNP	ENST00000540264.2	37	c.1094G>A	CCDS8876.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858535	0.91433	.	.	ENSG00000123405	ENST00000312156;ENST00000435572;ENST00000540264;ENST00000553070	.	.	.	5.27	5.27	0.74061	.	0.166180	0.38837	N	0.001546	T	0.65883	0.2734	M	0.64997	1.995	0.41069	D	0.98543	D	0.69078	0.997	P	0.56474	0.799	T	0.69281	-0.5186	9	0.72032	D	0.01	-14.5746	10.2444	0.43332	0.0:0.9092:0.0:0.0908	.	365	Q16621	NFE2_HUMAN	Q	365	.	ENSP00000312436:R365Q	R	-	2	0	NFE2	52972453	0.452000	0.25713	1.000000	0.80357	0.993000	0.82548	0.878000	0.28126	2.630000	0.89119	0.655000	0.94253	CGG		0.562	NFE2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405747.1	NM_006163		7	60	0	0	0	0.004482	0	7	60				
CD63	967	broad.mit.edu	37	12	56120552	56120552	+	Missense_Mutation	SNP	G	G	A	rs200393279		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:56120552G>A	ENST00000549117.1	-	5	794	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	CD63_ENST00000546939.1_Missense_Mutation_p.R38W|CD63_ENST00000552754.1_Missense_Mutation_p.R97W|CD63_ENST00000548160.1_Missense_Mutation_p.R27W|CD63_ENST00000550776.1_Missense_Mutation_p.R38W|RP11-644F5.11_ENST00000552576.1_RNA|CD63_ENST00000548898.1_Missense_Mutation_p.R27W|CD63_ENST00000257857.4_Missense_Mutation_p.R120W|CD63_ENST00000420846.3_Missense_Mutation_p.R120W|CD63_ENST00000552067.1_Missense_Mutation_p.R27W|CD63_ENST00000552692.1_Missense_Mutation_p.R120W	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	120					blood coagulation (GO:0007596)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular protein localization (GO:0034613)|endosome to melanosome transport (GO:0035646)|pigment granule maturation (GO:0048757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of receptor internalization (GO:0002092)|protein transport (GO:0015031)|regulation of rubidium ion transport (GO:2000680)|regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|multivesicular body, internal vesicle (GO:0097487)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)		p.R120W(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ATCTGCTGCCGGAAGTTGTTA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18913	0.001		0.0	False		,,,				2504	0.0				Pancreas(123;1459 1747 6717 18841 37380)	Pancreas(123;1459 1747 6717 18841 37380)	uc001shm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(358-360)CGG>TGG		CD63 antigen isoform A		G	TRP/ARG,TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	136.0	128.0	131.0		358,358	3.3	0.5	12		131	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CD63	NM_001040034.1,NM_001780.4	101,101	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	probably-damaging,probably-damaging	120/237,120/239	56120552	5,13001	2203	4300	6503	SO:0001583	missense	967				platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		g.chr12:56120552G>A	M58485	CCDS8890.1, CCDS58242.1, CCDS58243.1	12q12-q13	2013-02-14	2006-03-28					"""CD molecules"", ""Tetraspanins"""	1692	protein-coding gene	gene with protein product		155740	"""CD63 antigen (melanoma 1 antigen)"""	MLA1			Standard	NM_001780		Approved	ME491, TSPAN30	uc031qhv.1	P08962		ENST00000549117.1:c.358C>T	12.37:g.56120552G>A	ENSP00000447730:p.Arg120Trp					CD63_uc009znz.2_Missense_Mutation_p.R97W|CD63_uc001shn.2_Missense_Mutation_p.R120W|CD63_uc001sho.2_Missense_Mutation_p.R120W|CD63_uc001shp.2_Missense_Mutation_p.R120W	p.R120W	NM_001780	NP_001771	P08962	CD63_HUMAN			4	454	-			120			Extracellular (Potential).		F8VZE2|Q5TZP3|Q8N6Z9|Q9UCG6	Missense_Mutation	SNP	ENST00000549117.1	37	c.358C>T	CCDS8890.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.99	2.700889	0.48307	9.08E-4	1.16E-4	ENSG00000135404	ENST00000548898;ENST00000552067;ENST00000420846;ENST00000548160;ENST00000546939;ENST00000552692;ENST00000549117;ENST00000257857;ENST00000552754;ENST00000550776;ENST00000552164;ENST00000551173;ENST00000546457	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.2	3.33	0.38152	Tetraspanin, EC2 domain (1);	1.256540	0.05643	N	0.583841	D	0.89511	0.6736	L	0.47190	1.495	0.32200	N	0.577882	D;D;D	0.71674	0.998;0.981;0.981	P;P;P	0.55303	0.72;0.773;0.773	T	0.80948	-0.1154	10	0.72032	D	0.01	.	10.8995	0.47043	0.0:0.0:0.6573:0.3427	.	97;120;120	Q8N6Z9;C9JV86;P08962	.;.;CD63_HUMAN	W	27;27;120;27;38;120;120;120;97;38;120;120;120	ENSP00000447938:R27W;ENSP00000449684:R27W;ENSP00000393502:R120W;ENSP00000449654:R27W;ENSP00000447356:R38W;ENSP00000449337:R120W;ENSP00000447730:R120W;ENSP00000257857:R120W;ENSP00000446807:R97W;ENSP00000448091:R38W;ENSP00000449281:R120W;ENSP00000446752:R120W;ENSP00000450191:R120W	ENSP00000257857:R120W	R	-	1	2	CD63	54406819	0.926000	0.31397	0.507000	0.27676	0.173000	0.22820	1.247000	0.32815	0.681000	0.31386	-0.293000	0.09583	CGG		0.557	CD63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409234.1			21	191	0	0	0	0.002299	0	21	191				
GLI1	2735	broad.mit.edu	37	12	57864593	57864593	+	Silent	SNP	C	C	T	rs574150246		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:57864593C>T	ENST00000228682.2	+	12	2161	c.2070C>T	c.(2068-2070)ccC>ccT	p.P690P	GLI1_ENST00000546141.1_Silent_p.P649P|GLI1_ENST00000543426.1_Silent_p.P562P	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	690					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.P690P(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CACAGCCCCCCAGCATCACTG	0.567																																					Pancreas(157;841 1936 10503 41495 50368)	Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(2068-2070)CCC>CCT		GLI family zinc finger 1 isoform 1																																				SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864593C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.2070C>T	12.37:g.57864593C>T						GLI1_uc009zpq.2_Silent_p.P562P	p.P690P	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	2148	+			690					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.2070C>T	CCDS8940.1																																																																																				0.567	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		13	64	0	0	0	0.00245	0	13	64				
XPOT	11260	broad.mit.edu	37	12	64814179	64814179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:64814179G>T	ENST00000332707.5	+	8	1250	c.721G>T	c.(721-723)Gaa>Taa	p.E241*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	241	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.E241*(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGTTCTACGGGAAGAAGCATG	0.333																																							uc001ssb.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(721-723)GAA>TAA		tRNA exportin							74.0	78.0	76.0					12																	64814179		2203	4298	6501	SO:0001587	stop_gained	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64814179G>T	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.721G>T	12.37:g.64814179G>T	ENSP00000327821:p.Glu241*					XPOT_uc009zqm.1_Nonsense_Mutation_p.E151*	p.E241*	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	8	1147	+			241			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Nonsense_Mutation	SNP	ENST00000332707.5	37	c.721G>T	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	G	41	8.658101	0.98903	.	.	ENSG00000184575	ENST00000332707	.	.	.	4.89	4.89	0.63831	.	0.094927	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9398	0.92601	0.0:0.0:1.0:0.0	.	.	.	.	X	241	.	.	E	+	1	0	XPOT	63100446	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.655000	0.98512	2.649000	0.89929	0.655000	0.94253	GAA		0.333	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		26	90	1	0	4.22769e-11	0.00632	5.87388e-11	26	90				
OSBPL8	114882	broad.mit.edu	37	12	76779954	76779954	+	Silent	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:76779954A>G	ENST00000261183.3	-	14	2006	c.1527T>C	c.(1525-1527)gcT>gcC	p.A509A	OSBPL8_ENST00000393249.2_Silent_p.A467A|OSBPL8_ENST00000393250.4_Silent_p.A467A	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	509					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)	p.A509A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ATACCTGTTCAGCAATATAAA	0.313																																							uc001sye.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1525-1527)GCT>GCC		oxysterol-binding protein-like protein 8 isoform							44.0	43.0	43.0					12																	76779954		2203	4298	6501	SO:0001819	synonymous_variant	114882				lipid transport		lipid binding	g.chr12:76779954A>G	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1527T>C	12.37:g.76779954A>G						OSBPL8_uc001syf.1_Silent_p.A467A|OSBPL8_uc001syg.1_Silent_p.A467A|OSBPL8_uc001syh.1_Silent_p.A484A	p.A509A	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN			14	2007	-			509					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Silent	SNP	ENST00000261183.3	37	c.1527T>C	CCDS31862.1																																																																																				0.313	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841		9	32	0	0	0	0.006214	0	9	32				
E2F7	144455	broad.mit.edu	37	12	77421759	77421759	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:77421759G>T	ENST00000322886.7	-	11	2279	c.2044C>A	c.(2044-2046)Cct>Act	p.P682T	E2F7_ENST00000416496.2_Missense_Mutation_p.P682T	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	682					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P682T(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						TTTCTTGAAGGATTTCCCCAC	0.423																																							uc001sym.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(2044-2046)CCT>ACT		E2F transcription factor 7							131.0	127.0	128.0					12																	77421759		2203	4300	6503	SO:0001583	missense	144455				cell cycle	transcription factor complex	DNA binding|identical protein binding	g.chr12:77421759G>T	BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.2044C>A	12.37:g.77421759G>T	ENSP00000323246:p.Pro682Thr					E2F7_uc009zse.2_Missense_Mutation_p.P169T	p.P682T	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN			11	2280	-			682					A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	c.2044C>A	CCDS9016.1	.	.	.	.	.	.	.	.	.	.	G	0.535	-0.856180	0.02630	.	.	ENSG00000165891	ENST00000322886;ENST00000339887;ENST00000416496;ENST00000550669	T;T;T	0.59502	0.26;0.26;0.26	5.85	1.87	0.25490	.	1.012260	0.07891	N	0.971236	T	0.50051	0.1593	L	0.35723	1.085	0.09310	N	1	P;B	0.49358	0.923;0.22	P;B	0.47891	0.56;0.058	T	0.30995	-0.9959	10	0.27785	T	0.31	-0.5869	4.9127	0.13831	0.3142:0.0:0.5494:0.1364	.	682;682	Q96AV8-2;Q96AV8	.;E2F7_HUMAN	T	682;169;682;682	ENSP00000323246:P682T;ENSP00000393639:P682T;ENSP00000448245:P682T	ENSP00000323246:P682T	P	-	1	0	E2F7	75945890	0.000000	0.05858	0.009000	0.14445	0.980000	0.70556	0.213000	0.17521	0.064000	0.16427	0.655000	0.94253	CCT		0.423	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		43	158	1	0	5.73435e-26	0.00361	9.52691e-26	43	158				
NAV3	89795	broad.mit.edu	37	12	78444594	78444594	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:78444594G>T	ENST00000397909.2	+	11	2356	c.2183G>T	c.(2182-2184)aGg>aTg	p.R728M	NAV3_ENST00000536525.2_Missense_Mutation_p.R728M|NAV3_ENST00000266692.7_Missense_Mutation_p.R728M|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.R728M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	728						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R728M(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTTAATGGAAGGACCATACCC	0.517										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2182-2184)AGG>ATG		neuron navigator 3							131.0	125.0	127.0					12																	78444594		1967	4160	6127	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78444594G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2183G>T	12.37:g.78444594G>T	ENSP00000381007:p.Arg728Met	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.R728M|NAV3_uc010sub.1_Missense_Mutation_p.R228M	p.R728M	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			11	2356	+			728					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2183G>T		.	.	.	.	.	.	.	.	.	.	G	27.8	4.861179	0.91433	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.79	5.79	0.91817	.	0.000000	0.44285	U	0.000480	T	0.46328	0.1387	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.993;0.998	T	0.38672	-0.9650	10	0.87932	D	0	-25.5844	20.031	0.97536	0.0:0.0:1.0:0.0	.	728;728;728	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	M	728	ENSP00000446132:R728M;ENSP00000381007:R728M;ENSP00000228327:R728M;ENSP00000266692:R728M	ENSP00000228327:R728M	R	+	2	0	NAV3	76968725	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.581000	0.82535	2.735000	0.93741	0.655000	0.94253	AGG		0.517	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		31	115	1	0	9.8876e-21	0.004878	1.56015e-20	31	115				
STAB2	55576	broad.mit.edu	37	12	104129313	104129313	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:104129313G>A	ENST00000388887.2	+	52	5709	c.5505G>A	c.(5503-5505)ctG>ctA	p.L1835L		NM_017564.9	NP_060034.9			stabilin 2									p.L1835L(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGAAGACCCTGCAAGGTTCAG	0.542																																							uc001tjw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(9)|skin(5)	14						c.(5503-5505)CTG>CTA		stabilin 2 precursor							73.0	62.0	66.0					12																	104129313		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104129313G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5505G>A	12.37:g.104129313G>A						STAB2_uc009zug.2_RNA	p.L1835L	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			52	5691	+			1835			Extracellular (Potential).|FAS1 6.			Silent	SNP	ENST00000388887.2	37	c.5505G>A	CCDS31888.1																																																																																				0.542	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			8	31	0	0	0	0.004482	0	8	31				
TBX5	6910	broad.mit.edu	37	12	114841688	114841688	+	Nonsense_Mutation	SNP	C	C	A	rs145365553		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:114841688C>A	ENST00000310346.4	-	2	682	c.16G>T	c.(16-18)Gag>Tag	p.E6*	TBX5_ENST00000349716.5_Intron|TBX5_ENST00000526441.1_Nonsense_Mutation_p.E6*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.E6*|TBX5_ENST00000552726.1_5'UTR	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	6					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.E6*(2)|p.E6K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCAAAGCCCTCGTCTGCGTCG	0.677																																					NSCLC(152;1358 1980 4050 23898 40356)	NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	3	Substitution - Nonsense(2)|Substitution - Missense(1)		lung(2)|haematopoietic_and_lymphoid_tissue(1)	ovary(6)|pancreas(1)|skin(1)	8						c.(16-18)GAG>TAG		T-box 5 isoform 1							23.0	27.0	26.0					12																	114841688		2203	4299	6502	SO:0001587	stop_gained	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114841688C>A	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.16G>T	12.37:g.114841688C>A	ENSP00000309913:p.Glu6*					TBX5_uc001tvp.2_Nonsense_Mutation_p.E6*|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Nonsense_Mutation_p.E6*	p.E6*	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	2	511	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		6					A6ND77|O15301|Q96TB0|Q9Y4I2	Nonsense_Mutation	SNP	ENST00000310346.4	37	c.16G>T	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	46	12.328070	0.99657	.	.	ENSG00000089225	ENST00000310346;ENST00000405440;ENST00000526441	.	.	.	5.31	5.31	0.75309	.	0.171886	0.49916	D	0.000130	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	18.988	0.92780	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000309913:E6X	E	-	1	0	TBX5	113326071	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.944000	0.63561	2.476000	0.83614	0.655000	0.94253	GAG		0.677	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		8	27	1	0	3.86212e-05	0.008291	4.4915e-05	8	27				
MED13L	23389	broad.mit.edu	37	12	116421007	116421007	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:116421007C>A	ENST00000281928.3	-	21	5076	c.4870G>T	c.(4870-4872)Gat>Tat	p.D1624Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1624						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.D1624Y(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGCGTTCTATCCGCAGAAATG	0.527																																							uc001tvw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(4870-4872)GAT>TAT		mediator complex subunit 13-like							97.0	96.0	96.0					12																	116421007		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116421007C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4870G>T	12.37:g.116421007C>A	ENSP00000281928:p.Asp1624Tyr						p.D1624Y	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	21	4925	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1624					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.4870G>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.728521	0.48833	.	.	ENSG00000123066	ENST00000281928	T	0.74421	-0.84	5.65	5.65	0.86999	.	0.421233	0.26234	N	0.025553	T	0.67951	0.2948	N	0.19112	0.55	0.52501	D	0.999955	P	0.35844	0.524	B	0.39617	0.305	T	0.70554	-0.4840	10	0.72032	D	0.01	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	1624	Q71F56	MD13L_HUMAN	Y	1624	ENSP00000281928:D1624Y	ENSP00000281928:D1624Y	D	-	1	0	MED13L	114905390	0.998000	0.40836	0.223000	0.23860	0.143000	0.21401	4.846000	0.62860	2.941000	0.99782	0.655000	0.94253	GAT		0.527	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			31	65	1	0	3.33393e-15	0.004878	4.80209e-15	31	65				
SBNO1	55206	broad.mit.edu	37	12	123782543	123782543	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:123782543C>A	ENST00000602398.1	-	31	4148	c.4021G>T	c.(4021-4023)Gat>Tat	p.D1341Y	SBNO1_ENST00000420886.2_Missense_Mutation_p.D1341Y|SBNO1_ENST00000602750.1_Missense_Mutation_p.D1340Y|SBNO1_ENST00000267176.4_Missense_Mutation_p.D1340Y			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1341					regulation of transcription, DNA-templated (GO:0006355)			p.D1340Y(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CGTTGCCCATCTTCCGTTCTT	0.428																																							uc010tap.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(4021-4023)GAT>TAT		sno, strawberry notch homolog 1							214.0	189.0	198.0					12																	123782543		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123782543C>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4021G>T	12.37:g.123782543C>A	ENSP00000473665:p.Asp1341Tyr					SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.D1340Y|SBNO1_uc010taq.1_Missense_Mutation_p.D292Y	p.D1341Y	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	30	4021	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1341					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4021G>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830298	0.71258	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.83673	-1.75;-1.75	5.63	5.63	0.86233	.	0.124288	0.52532	D	0.000069	D	0.91975	0.7458	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.92189	0.5758	10	0.87932	D	0	-16.1277	20.1116	0.97914	0.0:1.0:0.0:0.0	.	1341;1340	A3KN83;A3KN83-2	SBNO1_HUMAN;.	Y	1341;1340	ENSP00000387361:D1341Y;ENSP00000267176:D1340Y	ENSP00000267176:D1340Y	D	-	1	0	SBNO1	122348496	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.729000	0.84864	2.833000	0.97629	0.650000	0.86243	GAT		0.428	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		50	167	1	0	6.20943e-19	0.00361	9.55766e-19	50	167				
MMP17	4326	broad.mit.edu	37	12	132325241	132325241	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr12:132325241C>A	ENST00000360564.1	+	4	648	c.546C>A	c.(544-546)gcC>gcA	p.A182A	MMP17_ENST00000535291.1_Silent_p.A98A	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	182				A -> T (in Ref. 1; BAA82707 and 2; CAA61753). {ECO:0000305}.	positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A182A(1)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CGGGCAGCGCCGCCGACATCC	0.672																																							uc001ujc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)GCC>GCA		matrix metalloproteinase 17 preproprotein							90.0	79.0	83.0					12																	132325241		2203	4299	6502	SO:0001819	synonymous_variant	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132325241C>A	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.546C>A	12.37:g.132325241C>A						MMP17_uc001ujd.1_Silent_p.A98A	p.A182A	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	4	645	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		182	A -> T (in Ref. 1; BAA82707 and 2; CAA61753).				Q14850	Silent	SNP	ENST00000360564.1	37	c.546C>A	CCDS31927.1																																																																																				0.672	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		20	82	1	0	7.88262e-20	0.00333	1.21928e-19	20	82				
LNX2	222484	broad.mit.edu	37	13	28143301	28143301	+	Silent	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr13:28143301A>G	ENST00000316334.3	-	3	649	c.520T>C	c.(520-522)Tta>Cta	p.L174L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	174					protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)	p.L174L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TCTGGAGATAAGGTACCTGCA	0.517																																							uc001url.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6						c.(520-522)TTA>CTA		ligand of numb-protein X 2							241.0	239.0	239.0					13																	28143301		2203	4300	6503	SO:0001819	synonymous_variant	222484						zinc ion binding	g.chr13:28143301A>G	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.520T>C	13.37:g.28143301A>G						LNX2_uc001urm.1_Silent_p.L174L	p.L174L	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	3	829	-		Lung SC(185;0.0156)	174					Q5W0P0|Q6ZMH2|Q96SH4	Silent	SNP	ENST00000316334.3	37	c.520T>C	CCDS9323.1																																																																																				0.517	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			100	203	0	0	0	0.00361	0	100	203				
OR11H6	122748	broad.mit.edu	37	14	20692480	20692480	+	Silent	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:20692480A>T	ENST00000315519.2	+	1	690	c.612A>T	c.(610-612)gcA>gcT	p.A204A		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A204A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CATTGTTTGCACTGGCCTGCA	0.493																																							uc010tlc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(610-612)GCA>GCT		olfactory receptor, family 11, subfamily H,							116.0	108.0	111.0					14																	20692480		2203	4300	6503	SO:0001819	synonymous_variant	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692480A>T		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.612A>T	14.37:g.20692480A>T							p.A204A	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	612	+	all_cancers(95;0.00108)		204			Extracellular (Potential).		Q6IF08	Silent	SNP	ENST00000315519.2	37	c.612A>T	CCDS32033.1																																																																																				0.493	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			18	43	0	0	0	0.002299	0	18	43				
TEP1	7011	broad.mit.edu	37	14	20857777	20857777	+	Silent	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:20857777T>A	ENST00000262715.5	-	16	2497	c.2457A>T	c.(2455-2457)gtA>gtT	p.V819V	TEP1_ENST00000556935.1_Silent_p.V711V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	819					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V819V(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACAGGTATTGTACCCTTCTTA	0.473																																							uc001vxe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(2455-2457)GTA>GTT		telomerase-associated protein 1							148.0	135.0	140.0					14																	20857777		2203	4300	6503	SO:0001819	synonymous_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20857777T>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2457A>T	14.37:g.20857777T>A						TEP1_uc010ahk.2_Silent_p.V169V|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Silent_p.V711V	p.V819V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	16	2497	-	all_cancers(95;0.00123)	all_lung(585;0.235)	819					A0AUV9	Silent	SNP	ENST00000262715.5	37	c.2457A>T	CCDS9548.1																																																																																				0.473	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		36	84	0	0	0	0.006999	0	36	84				
OR5AU1	390445	broad.mit.edu	37	14	21623954	21623954	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:21623954C>T	ENST00000304418.3	-	1	268	c.231G>A	c.(229-231)ctG>ctA	p.L77L		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L77L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CCACGAAGAGCAGCCTCTGGA	0.582																																							uc010tlp.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(229-231)CTG>CTA		olfactory receptor, family 5, subfamily AU,							106.0	85.0	92.0					14																	21623954		2203	4300	6503	SO:0001819	synonymous_variant	390445				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21623954C>T	AL157687	CCDS32042.1	14q11.2	2013-09-23			ENSG00000169327	ENSG00000169327		"""GPCR / Class A : Olfactory receptors"""	15362	protein-coding gene	gene with protein product							Standard	NM_001004731		Approved		uc010tlp.2	Q8NGC0	OTTHUMG00000170753	ENST00000304418.3:c.231G>A	14.37:g.21623954C>T							p.L77L	NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)	1	231	-	all_cancers(95;0.00238)		77			Extracellular (Potential).		B2RP78|Q6IEU2|Q96R10	Silent	SNP	ENST00000304418.3	37	c.231G>A	CCDS32042.1																																																																																				0.582	OR5AU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410213.1			13	46	0	0	0	0.001855	0	13	46				
CHD8	57680	broad.mit.edu	37	14	21878145	21878145	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:21878145G>A	ENST00000557364.1	-	11	2492	c.2229C>T	c.(2227-2229)ccC>ccT	p.P743P	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.P464P|CHD8_ENST00000399982.2_Silent_p.P743P			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	743	Chromo 2. {ECO:0000255|PROSITE- ProRule:PRU00053}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.P743P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGTAAATAACGGGCTAGGAGA	0.383																																							uc001was.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(1390-1392)CCC>CCT		chromodomain helicase DNA binding protein 8							76.0	66.0	69.0					14																	21878145		1849	4091	5940	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21878145G>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2229C>T	14.37:g.21878145G>A						CHD8_uc001war.1_Silent_p.P360P|CHD8_uc001wav.1_5'UTR	p.P464P	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	11	1486	-	all_cancers(95;0.00121)		743			Chromo 2.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.1392C>T	CCDS53885.1																																																																																				0.383	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		15	34	0	0	0	0.003163	0	15	34				
CHD8	57680	broad.mit.edu	37	14	21896230	21896230	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:21896230C>T	ENST00000557364.1	-	4	1662	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.E188K|CHD8_ENST00000399982.2_Missense_Mutation_p.E467K|RN7SL650P_ENST00000583681.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	467					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.E467K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCAATGGCCTCTGCTACAATC	0.547																																							uc001was.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(562-564)GAG>AAG		chromodomain helicase DNA binding protein 8							186.0	184.0	185.0					14																	21896230		2036	4186	6222	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21896230C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1399G>A	14.37:g.21896230C>T	ENSP00000451601:p.Glu467Lys					CHD8_uc001war.1_Missense_Mutation_p.E84K	p.E188K	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	4	656	-	all_cancers(95;0.00121)		467					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.562G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084436	0.94100	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.53857	0.6;0.6;0.6	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	L	0.27053	0.805	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.65533	-0.6145	10	0.62326	D	0.03	-18.6366	18.4014	0.90518	0.0:1.0:0.0:0.0	.	188	Q9HCK8-2	.	K	188;467;187;467	ENSP00000406288:E188K;ENSP00000382863:E467K;ENSP00000451601:E467K	ENSP00000262707:E187K	E	-	1	0	CHD8	20966070	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.897000	0.75671	2.639000	0.89480	0.655000	0.94253	GAG		0.547	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		32	217	0	0	0	0.012213	0	32	217				
MYH6	4624	broad.mit.edu	37	14	23855623	23855623	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:23855623C>A	ENST00000356287.3	-	32	4889	c.4860G>T	c.(4858-4860)atG>atT	p.M1620I	MYH6_ENST00000405093.3_Missense_Mutation_p.M1620I|MIR208A_ENST00000362287.1_RNA			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1620					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.M1620I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTCTCCTTCCATCTTCTTCT	0.607																																							uc001wjv.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(4858-4860)ATG>ATT		myosin heavy chain 6							162.0	145.0	151.0					14																	23855623		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23855623C>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4860G>T	14.37:g.23855623C>A	ENSP00000348634:p.Met1620Ile						p.M1620I	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	33	4927	-	all_cancers(95;2.54e-05)		1620			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.4860G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.107258	0.77096	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.76578	-1.03;-1.03	4.5	4.5	0.54988	Myosin tail (1);	.	.	.	.	D	0.82421	0.5033	M	0.79693	2.465	0.58432	D	0.999998	P	0.36837	0.571	B	0.42163	0.378	D	0.85340	0.1095	9	0.59425	D	0.04	.	17.5797	0.87963	0.0:1.0:0.0:0.0	.	1620	P13533	MYH6_HUMAN	I	1620	ENSP00000386041:M1620I;ENSP00000348634:M1620I	ENSP00000348634:M1620I	M	-	3	0	MYH6	22925463	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.682000	0.84083	2.203000	0.70933	0.561000	0.74099	ATG		0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			43	144	1	0	3.05275e-18	0.003214	4.67591e-18	43	144				
PRKD1	5587	broad.mit.edu	37	14	30133002	30133002	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:30133002C>A	ENST00000331968.5	-	4	828	c.599G>T	c.(598-600)aGg>aTg	p.R200M	PRKD1_ENST00000415220.2_Missense_Mutation_p.R200M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	200	Poly-Arg.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.R200M(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CCTTCTCCGCCTCACACCGCT	0.458																																							uc001wqh.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(598-600)AGG>ATG		protein kinase D1							192.0	191.0	191.0					14																	30133002		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30133002C>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.599G>T	14.37:g.30133002C>A	ENSP00000333568:p.Arg200Met						p.R200M	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	4	780	-	Hepatocellular(127;0.0604)		200			Poly-Arg.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.599G>T	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328724	0.95733	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.68624	-0.34;-0.34	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.82995	-0.0180	10	0.87932	D	0	-27.6396	20.3368	0.98748	0.0:1.0:0.0:0.0	.	200	Q15139	KPCD1_HUMAN	M	200	ENSP00000333568:R200M;ENSP00000390535:R200M	ENSP00000333568:R200M	R	-	2	0	PRKD1	29202753	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.811000	0.86092	2.805000	0.96524	0.655000	0.94253	AGG		0.458	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		83	330	1	0	3.47446e-26	0.00361	5.83413e-26	83	330				
NIN	51199	broad.mit.edu	37	14	51228584	51228584	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:51228584G>C	ENST00000382041.3	-	16	2010	c.1820C>G	c.(1819-1821)gCa>gGa	p.A607G	NIN_ENST00000389868.3_Missense_Mutation_p.A607G|NIN_ENST00000453196.1_Missense_Mutation_p.A607G|NIN_ENST00000324330.9_Missense_Mutation_p.A607G|NIN_ENST00000382043.4_Missense_Mutation_p.A607G|NIN_ENST00000245441.5_Missense_Mutation_p.A607G|NIN_ENST00000530997.2_Missense_Mutation_p.A607G	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	607					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.A607G(2)|p.A613G(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GACCAGCTCTGCCTCAATGCT	0.448			T	PDGFRB	MPD																																		uc001wym.2		NA		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(1819-1821)GCA>GGA		ninein isoform 5							290.0	247.0	262.0					14																	51228584		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51228584G>C	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1820C>G	14.37:g.51228584G>C	ENSP00000371472:p.Ala607Gly					NIN_uc001wyi.2_Missense_Mutation_p.A607G|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.A607G|NIN_uc010tqp.1_Missense_Mutation_p.A613G|NIN_uc001wyo.2_Missense_Mutation_p.A607G	p.A607G	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			16	2011	-	all_epithelial(31;0.00244)|Breast(41;0.127)		607					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.1820C>G	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853854	0.91355	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.17054	2.93;2.3;2.31;2.66;2.66;2.66	5.33	5.33	0.75918	.	0.050910	0.85682	D	0.000000	T	0.44008	0.1273	M	0.77103	2.36	0.53005	D	0.999968	P;P;P;D;B	0.76494	0.935;0.934;0.867;0.999;0.433	P;P;P;D;B	0.68039	0.788;0.727;0.557;0.955;0.269	T	0.38329	-0.9666	10	0.56958	D	0.05	-13.1504	18.0177	0.89246	0.0:0.0:1.0:0.0	.	613;607;607;607;607	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	G	607;590;607;607;613;607;607;607	ENSP00000245441:A607G;ENSP00000374518:A607G;ENSP00000371474:A607G;ENSP00000371472:A607G;ENSP00000324210:A607G;ENSP00000412391:A607G	ENSP00000245441:A607G	A	-	2	0	NIN	50298334	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	7.992000	0.88273	2.507000	0.84556	0.655000	0.94253	GCA		0.448	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		4	325	0	0	0	0.009096	0	4	325				
FAM71D	161142	broad.mit.edu	37	14	67675040	67675040	+	3'UTR	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:67675040G>C	ENST00000556046.1	+	0	1575							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R345T(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		GAAGGTAAAAGATATTTTCAA	0.378																																							uc001xja.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1033-1035)AGA>ACA		hypothetical protein LOC161142							103.0	93.0	97.0					14																	67675040		2203	4300	6503	SO:0001624	3_prime_UTR_variant	161142							g.chr14:67675040G>C		CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 54"""	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8		ENST00000556046.1:c.*1090G>C	14.37:g.67675040G>C						FAM71D_uc010aqn.1_RNA	p.R345T	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)	6	1288	+		all_hematologic(31;0.0116)	345					Q86VN4	Missense_Mutation	SNP	ENST00000556046.1	37	c.1034G>C		.	.	.	.	.	.	.	.	.	.	G	10.14	1.268068	0.23136	.	.	ENSG00000172717	ENST00000557671	.	.	.	4.18	-3.15	0.05233	.	.	.	.	.	T	0.34279	0.0892	L	0.27053	0.805	.	.	.	.	.	.	.	.	.	T	0.44711	-0.9310	4	.	.	.	-1.0562	10.0982	0.42488	0.6561:0.0:0.3439:0.0	.	.	.	.	H	3	.	.	D	+	1	0	FAM71D	66744793	0.003000	0.15002	0.000000	0.03702	0.076000	0.17211	0.084000	0.14891	-0.741000	0.04797	-0.150000	0.13652	GAT		0.378	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	protein_coding	OTTHUMT00000412390.1	NM_173526		6	88	0	0	0	0.004482	0	6	88				
ACTN1	87	broad.mit.edu	37	14	69347566	69347566	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:69347566C>A	ENST00000193403.6	-	17	2477	c.2094G>T	c.(2092-2094)gcG>gcT	p.A698A	ACTN1_ENST00000394419.4_Silent_p.A698A|ACTN1_ENST00000538545.2_Silent_p.A698A|ACTN1_ENST00000438964.2_Silent_p.A698A|ACTN1_ENST00000376839.3_Silent_p.A633A	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	698	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)	p.A698A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGAAGATGAGCGCCTCCTGGA	0.582																																							uc001xkl.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2092-2094)GCG>GCT		actinin, alpha 1 isoform b							159.0	131.0	141.0					14																	69347566		2203	4300	6503	SO:0001819	synonymous_variant	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69347566C>A	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.2094G>T	14.37:g.69347566C>A						ACTN1_uc001xkk.2_Silent_p.A294A|ACTN1_uc010ttb.1_Silent_p.A633A|ACTN1_uc001xkm.2_Silent_p.A698A|ACTN1_uc001xkn.2_Silent_p.A698A|ACTN1_uc010ttc.1_Silent_p.A283A	p.A698A	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	17	2404	-			698			Spectrin 4.|Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Silent	SNP	ENST00000193403.6	37	c.2094G>T	CCDS9792.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.241|8.241	0.806941|0.806941	0.16467|0.16467	.|.	.|.	ENSG00000072110|ENSG00000072110	ENST00000553290|ENST00000555075	T|.	0.49139|.	0.79|.	4.85|4.85	-9.71|-9.71	0.00518|0.00518	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.33030|0.33030	0.0849|0.0849	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39643|0.39643	-0.9604|-0.9604	6|4	.|.	.|.	.|.	.|.	1.6367|1.6367	0.02743|0.02743	0.209:0.1572:0.1965:0.4373|0.209:0.1572:0.1965:0.4373	.|.	.|.	.|.	.|.	S|L	138|84	ENSP00000450625:A138S|.	.|.	A|R	-|-	1|2	0|0	ACTN1|ACTN1	68417319|68417319	0.000000|0.000000	0.05858|0.05858	0.165000|0.165000	0.22776|0.22776	0.980000|0.980000	0.70556|0.70556	-7.784000|-7.784000	0.00030|0.00030	-2.492000|-2.492000	0.00516|0.00516	-0.742000|-0.742000	0.03525|0.03525	GCT|CGC		0.582	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102		58	107	1	0	1.08141e-31	0.00361	1.87603e-31	58	107				
ESRRB	2103	broad.mit.edu	37	14	76948374	76948374	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:76948374G>T	ENST00000509242.1	+	5	628	c.530G>T	c.(529-531)cGa>cTa	p.R177L	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.R177L|ESRRB_ENST00000380887.2_Missense_Mutation_p.R177L|ESRRB_ENST00000261532.7_Missense_Mutation_p.R177L	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	177					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R177L(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CGCCTTGATCGAGTGCGTGGA	0.507																																							uc001xsq.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(529-531)CGA>CTA		estrogen-related receptor beta							88.0	82.0	84.0					14																	76948374		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76948374G>T	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.530G>T	14.37:g.76948374G>T	ENSP00000422488:p.Arg177Leu					ESRRB_uc001xsr.2_Missense_Mutation_p.R177L|ESRRB_uc001xso.2_RNA	p.R177L	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	4	597	+			177					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.530G>T	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	G	34	5.295732	0.95574	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	4.92	4.92	0.64577	.	0.063315	0.64402	D	0.000004	T	0.75042	0.3796	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.81558	-0.0878	10	0.87932	D	0	.	18.5148	0.90931	0.0:0.0:1.0:0.0	.	177;182	Q5F0P7;E7EWD9	.;.	L	182;177;177;177;177	ENSP00000424992:R182L;ENSP00000422488:R177L;ENSP00000451658:R177L;ENSP00000370270:R177L;ENSP00000261532:R177L	ENSP00000261532:R177L	R	+	2	0	ESRRB	76018127	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.436000	0.82500	0.655000	0.94253	CGA		0.507	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			15	59	1	0	3.41278e-10	0.00499	4.61902e-10	15	59				
SYNE3	161176	broad.mit.edu	37	14	95910832	95910832	+	Nonsense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:95910832G>C	ENST00000334258.5	-	9	1780	c.1766C>G	c.(1765-1767)tCa>tGa	p.S589*	SYNE3_ENST00000553340.1_Nonsense_Mutation_p.S589*|SYNE3_ENST00000557275.1_Nonsense_Mutation_p.S589*|SYNE3_ENST00000554873.1_Nonsense_Mutation_p.S346*	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	589					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)	p.S589*(3)		breast(1)|endometrium(2)|lung(25)	28						CTGCAACCTTGAGAGCTGGGC	0.602																																							uc001yei.3		NA																	3	Substitution - Nonsense(3)		lung(3)	central_nervous_system(1)	1						c.(1765-1767)TCA>TGA		nesprin-3							58.0	52.0	54.0					14																	95910832		2203	4300	6503	SO:0001587	stop_gained	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95910832G>C	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1766C>G	14.37:g.95910832G>C	ENSP00000334308:p.Ser589*					C14orf49_uc010avi.2_Nonsense_Mutation_p.S589*|C14orf49_uc001yej.1_Nonsense_Mutation_p.S589*	p.S589*	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	9	1781	-		all_cancers(154;0.0937)	589			Cytoplasmic (Potential).		A6H8H3|Q86SX5|Q8N7G8	Nonsense_Mutation	SNP	ENST00000334258.5	37	c.1766C>G	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	G	37	6.147988	0.97324	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	.	.	.	5.11	-5.73	0.02398	.	2.820100	0.01747	N	0.029731	.	.	.	.	.	.	0.49687	D	0.999817	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	0.9764	7.0455	0.25042	0.5945:0.0:0.2057:0.1999	.	.	.	.	X	589;346;589;589	.	ENSP00000334308:S589X	S	-	2	0	C14orf49	94980585	0.001000	0.12720	0.000000	0.03702	0.585000	0.36419	0.425000	0.21346	-0.752000	0.04728	0.555000	0.69702	TCA		0.602	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		24	35	0	0	0	0.007291	0	24	35				
PLD4	122618	broad.mit.edu	37	14	105395257	105395257	+	Silent	SNP	G	G	A	rs573590569		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:105395257G>A	ENST00000392593.4	+	4	624	c.456G>A	c.(454-456)tcG>tcA	p.S152S	PLD4_ENST00000540372.1_Silent_p.S159S	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	152					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)	p.S135S(1)|p.S152S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			TCAACGACTCGTCTTCCCAGC	0.652																																							uc001ypu.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(454-456)TCG>TCA		phospholipase D4	Choline(DB00122)						39.0	44.0	43.0					14																	105395257		2057	4204	6261	SO:0001819	synonymous_variant	122618				lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	g.chr14:105395257G>A		CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.456G>A	14.37:g.105395257G>A						PLD4_uc010tyl.1_Silent_p.S159S	p.S152S	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		4	597	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	152					Q6UWD2	Silent	SNP	ENST00000392593.4	37	c.456G>A	CCDS9995.2																																																																																				0.652	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790		15	52	0	0	0	0.006122	0	15	52				
HERC2	8924	broad.mit.edu	37	15	28456198	28456198	+	Missense_Mutation	SNP	C	C	G	rs375020268		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:28456198C>G	ENST00000261609.7	-	44	7127	c.7019G>C	c.(7018-7020)cGg>cCg	p.R2340P		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R2340P(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGGATCTGCCGCAGTTTATC	0.502																																							uc001zbj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(7018-7020)CGG>CCG		hect domain and RLD 2							48.0	48.0	48.0					15																	28456198		2202	4297	6499	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28456198C>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7019G>C	15.37:g.28456198C>G	ENSP00000261609:p.Arg2340Pro						p.R2340P	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	44	7125	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2340						Missense_Mutation	SNP	ENST00000261609.7	37	c.7019G>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578833	0.86645	.	.	ENSG00000128731	ENST00000261609	T	0.58652	0.32	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	M	0.76574	2.34	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.79690	-0.1698	10	0.87932	D	0	.	18.1363	0.89620	0.0:1.0:0.0:0.0	.	2340	O95714	HERC2_HUMAN	P	2340	ENSP00000261609:R2340P	ENSP00000261609:R2340P	R	-	2	0	HERC2	26129793	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	7.647000	0.83462	2.497000	0.84241	0.561000	0.74099	CGG		0.502	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		17	102	0	0	0	0.010504	0	17	102				
GJD2	57369	broad.mit.edu	37	15	35045111	35045111	+	Silent	SNP	T	T	G	rs571006259		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:35045111T>G	ENST00000290374.4	-	2	1010	c.534A>C	c.(532-534)ccA>ccC	p.P178P	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	178					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)	p.P178P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GTAGACCTGATGGGTGTGGAG	0.483																																							uc001zis.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(532-534)CCA>CCC		gap junction protein, delta 2, 36kDa							157.0	165.0	162.0					15																	35045111		2201	4298	6499	SO:0001819	synonymous_variant	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045111T>G	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.534A>C	15.37:g.35045111T>G						uc001zit.1_5'Flank	p.P178P	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	534	-		all_lung(180;9.67e-07)	178			Cytoplasmic (Potential).		Q2M241|Q9P2R0	Silent	SNP	ENST00000290374.4	37	c.534A>C	CCDS10040.1																																																																																				0.483	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			39	219	0	0	0	0.005524	0	39	219				
ZNF280D	54816	broad.mit.edu	37	15	56923982	56923982	+	Missense_Mutation	SNP	C	C	G	rs184815636	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:56923982C>G	ENST00000267807.7	-	22	2870	c.2654G>C	c.(2653-2655)cGa>cCa	p.R885P	RP11-1129I3.1_ENST00000562300.1_RNA|ZNF280D_ENST00000559237.1_Missense_Mutation_p.R872P	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	885					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R885P(1)		endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TGATGCTAATCGCAAATCCTT	0.343																																							uc002adu.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2653-2655)CGA>CCA		suppressor of hairy wing homolog 4 isoform 1							123.0	120.0	121.0					15																	56923982		2192	4292	6484	SO:0001583	missense	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56923982C>G	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.2654G>C	15.37:g.56923982C>G	ENSP00000267807:p.Arg885Pro					uc002ads.2_5'Flank|ZNF280D_uc002adv.2_Missense_Mutation_p.R872P|ZNF280D_uc010bfq.2_Missense_Mutation_p.R885P|ZNF280D_uc002adt.2_Missense_Mutation_p.R126P|ZNF280D_uc010bfp.2_RNA	p.R885P	NM_017661	NP_060131	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	22	2871	-			885					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	ENST00000267807.7	37	c.2654G>C	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	C	8.342	0.828968	0.16749	.	.	ENSG00000137871	ENST00000267807;ENST00000455329	T	0.03181	4.02	5.93	-1.37	0.09056	.	15.974000	0.00166	N	0.000000	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	0.999994	B	0.11235	0.004	B	0.06405	0.002	T	0.45381	-0.9265	10	0.72032	D	0.01	2.1248	6.0374	0.19716	0.0:0.2269:0.1588:0.6143	.	885	Q6N043	Z280D_HUMAN	P	885;872	ENSP00000267807:R885P	ENSP00000267807:R885P	R	-	2	0	ZNF280D	54711274	0.000000	0.05858	0.007000	0.13788	0.664000	0.39144	-0.221000	0.09202	-0.103000	0.12175	0.563000	0.77884	CGA		0.343	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		9	78	0	0	0	0.004482	0	9	78				
NOX5	79400	broad.mit.edu	37	15	69327818	69327818	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:69327818T>A	ENST00000388866.3	+	6	1021	c.980T>A	c.(979-981)gTg>gAg	p.V327E	NOX5_ENST00000455873.3_Missense_Mutation_p.V292E|NOX5_ENST00000448182.3_Missense_Mutation_p.V281E|NOX5_ENST00000530406.2_Missense_Mutation_p.V299E|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000260364.5_Missense_Mutation_p.V309E	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	327	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.V309E(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CTGTCCCTCGTGCACACCGTG	0.612																																							uc002ars.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(979-981)GTG>GAG		NADPH oxidase, EF-hand calcium binding domain 5							97.0	65.0	76.0					15																	69327818		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69327818T>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.980T>A	15.37:g.69327818T>A	ENSP00000373518:p.Val327Glu					NOX5_uc002arp.1_Missense_Mutation_p.V309E|NOX5_uc002arq.1_Missense_Mutation_p.V281E|NOX5_uc010bid.1_Missense_Mutation_p.V292E|NOX5_uc002arr.1_Missense_Mutation_p.V299E|NOX5_uc010bie.1_Missense_Mutation_p.V127E|NOX5_uc010bif.1_RNA	p.V327E	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			6	1000	+			327			Ferric oxidoreductase.|Helical; (Potential).		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.980T>A	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	T	12.03	1.816629	0.32145	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.92149	-2.98;-2.98;-2.98	3.44	3.44	0.39384	Flavoprotein transmembrane component (1);	0.555813	0.16653	N	0.205149	D	0.94873	0.8343	M	0.83774	2.66	0.28784	N	0.899663	D;D;D	0.58970	0.984;0.966;0.967	P;P;P	0.59056	0.851;0.773;0.732	D	0.90107	0.4189	10	0.87932	D	0	-13.8222	10.7521	0.46216	0.0:0.0:0.0:1.0	.	292;327;299	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	E	292;309;327;299	ENSP00000416828:V292E;ENSP00000373518:V327E;ENSP00000432440:V299E	ENSP00000373518:V327E	V	+	2	0	NOX5	67114872	0.943000	0.32029	0.837000	0.33122	0.114000	0.19823	1.422000	0.34826	1.202000	0.43218	0.379000	0.24179	GTG		0.612	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		7	55	0	0	0	0.004482	0	7	55				
RHCG	51458	broad.mit.edu	37	15	90020439	90020439	+	Splice_Site	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:90020439T>A	ENST00000268122.4	-	8	1181		c.e8-2		RHCG_ENST00000544600.1_Splice_Site	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein						amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TGGACAAGCCTGGGGTGGAGA	0.567																																							uc002bnz.2		NA																	1	Unknown(1)		lung(1)	kidney(1)	1						c.e8-1		Rh family, C glycoprotein							72.0	76.0	74.0					15																	90020439		2200	4299	6499	SO:0001630	splice_region_variant	51458				amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr15:90020439T>A	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.1113-2A>T	15.37:g.90020439T>A						RHCG_uc002bny.2_Splice_Site_p.G142_splice|RHCG_uc002boa.2_Splice_Site	p.G371_splice	NM_016321	NP_057405	Q9UBD6	RHCG_HUMAN			8	1137	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)							A8K4D4|Q6X3Y4	Splice_Site	SNP	ENST00000268122.4	37	c.1113_splice	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.384366	0.82792	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3455	0.66658	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RHCG	87821443	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.654000	0.74387	2.122000	0.65172	0.533000	0.62120	.		0.567	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321	Intron	7	106	0	0	0	0.004482	0	7	106				
SV2B	9899	broad.mit.edu	37	15	91835612	91835612	+	Missense_Mutation	SNP	G	G	T	rs369020412		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:91835612G>T	ENST00000394232.1	+	13	2352	c.1882G>T	c.(1882-1884)Ggc>Tgc	p.G628C	SV2B_ENST00000545111.2_Missense_Mutation_p.G477C|SV2B_ENST00000330276.4_Missense_Mutation_p.G628C	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	628					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.G628C(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AACAGCCTTCGGCATTCTCAA	0.448																																							uc002bqv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1882-1884)GGC>TGC		synaptic vesicle protein 2B homolog		G	CYS/GLY,CYS/GLY	1,4395		0,1,2197	115.0	108.0	110.0		1429,1882	6.1	1.0	15		110	0,8596		0,0,4298	no	missense,missense	SV2B	NM_001167580.1,NM_014848.4	159,159	0,1,6495	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	477/533,628/684	91835612	1,12991	2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91835612G>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1882G>T	15.37:g.91835612G>T	ENSP00000377779:p.Gly628Cys					SV2B_uc010uqv.1_Missense_Mutation_p.G477C|SV2B_uc002bqu.3_RNA	p.G628C	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		12	2273	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		628			Helical; (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.1882G>T	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	.	29.6	5.018187	0.93404	2.27E-4	0.0	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.70749	-0.51;-0.51;-0.51	6.12	6.12	0.99158	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.042925	0.85682	N	0.000000	D	0.87625	0.6224	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87176	0.2224	10	0.45353	T	0.12	-23.5432	19.4041	0.94641	0.0:0.0:1.0:0.0	.	628	Q7L1I2	SV2B_HUMAN	C	477;628;628	ENSP00000443243:G477C;ENSP00000377779:G628C;ENSP00000332818:G628C	ENSP00000332818:G628C	G	+	1	0	SV2B	89636616	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.570000	0.98174	2.932000	0.99384	0.644000	0.83932	GGC		0.448	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		38	87	1	0	7.05121e-23	0.010771	1.15317e-22	38	87				
LRRK1	79705	broad.mit.edu	37	15	101523840	101523840	+	Silent	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr15:101523840A>T	ENST00000388948.3	+	4	728	c.369A>T	c.(367-369)ccA>ccT	p.P123P	LRRK1_ENST00000284395.5_Silent_p.P96P|LRRK1_ENST00000532029.2_Silent_p.P123P	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.P123P(1)|p.P96P(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGACAACCCAGCCGTGGTGG	0.562																																							uc002bwr.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(367-369)CCA>CCT		leucine-rich repeat kinase 1							82.0	84.0	83.0					15																	101523840		2008	4175	6183	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101523840A>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.369A>T	15.37:g.101523840A>T						LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bwq.1_Silent_p.P123P	p.P123P	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	688	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		123			ANK 2.			Silent	SNP	ENST00000388948.3	37	c.369A>T	CCDS42086.1																																																																																				0.562	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		24	42	0	0	0	0.003755	0	24	42				
GTF3C1	2975	broad.mit.edu	37	16	27476052	27476052	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr16:27476052C>G	ENST00000356183.4	-	34	5476	c.5461G>C	c.(5461-5463)Gac>Cac	p.D1821H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1821H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1821					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.D1821H(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTTCTCTGTCTTTCAGCCGC	0.662																																							uc002dov.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(5461-5463)GAC>CAC		general transcription factor IIIC, polypeptide							22.0	26.0	24.0					16																	27476052		2078	4062	6140	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27476052C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5461G>C	16.37:g.27476052C>G	ENSP00000348510:p.Asp1821His					GTF3C1_uc002dou.2_Missense_Mutation_p.D1821H	p.D1821H	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			34	5501	-			1821					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5461G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575773	0.28092	.	.	ENSG00000077235	ENST00000356183	T	0.23348	1.91	4.99	0.247	0.15521	.	1.828950	0.02781	N	0.120888	T	0.24122	0.0584	L	0.36672	1.1	0.09310	N	1	P;P	0.41569	0.511;0.755	B;B	0.42386	0.145;0.386	T	0.19844	-1.0293	10	0.62326	D	0.03	-22.1077	4.7196	0.12912	0.0:0.4929:0.166:0.3411	.	1821;1821	Q12789;Q12789-3	TF3C1_HUMAN;.	H	1821	ENSP00000348510:D1821H	ENSP00000348510:D1821H	D	-	1	0	GTF3C1	27383553	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	0.024000	0.13555	0.174000	0.19809	0.561000	0.74099	GAC		0.662	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		22	55	0	0	0	0.005443	0	22	55				
NOD2	64127	broad.mit.edu	37	16	50746260	50746260	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr16:50746260G>C	ENST00000300589.2	+	4	2543	c.2438G>C	c.(2437-2439)tGc>tCc	p.C813S	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	813					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.C813S(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGCTGCCTTGCCTTGGTGTC	0.617																																							uc002egm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2437-2439)TGC>TCC		nucleotide-binding oligomerization domain							111.0	117.0	115.0					16																	50746260		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50746260G>C	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.2438G>C	16.37:g.50746260G>C	ENSP00000300589:p.Cys813Ser					NOD2_uc010cbk.1_Missense_Mutation_p.C786S|NOD2_uc002egl.1_Missense_Mutation_p.C591S|NOD2_uc010cbl.1_Missense_Mutation_p.C591S|NOD2_uc010cbm.1_Missense_Mutation_p.C591S|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_RNA|NOD2_uc010cbq.1_5'UTR|NOD2_uc010cbr.1_RNA	p.C813S	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	2543	+		all_cancers(37;0.0156)	813					E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2438G>C	CCDS10746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.72|19.72	3.880845|3.880845	0.72294|0.72294	.|.	.|.	ENSG00000167207|ENSG00000167207	ENST00000526417;ENST00000300589|ENST00000534057	T|.	0.50813|.	0.73|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69851|0.69851	0.3157|0.3157	L|L	0.55103|0.55103	1.725|1.725	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;0.999|.	D;D;D|.	0.91635|.	0.994;0.999;0.994|.	T|T	0.67601|0.67601	-0.5629|-0.5629	10|5	0.38643|.	T|.	0.18|.	.|.	16.4535|16.4535	0.84003|0.84003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	597;786;813|.	D6CHF9;Q9HC29-2;Q9HC29|.	.;.;NOD2_HUMAN|.	S|F	786;813|52	ENSP00000300589:C813S|.	ENSP00000300589:C813S|.	C|L	+|+	2|3	0|2	NOD2|NOD2	49303761|49303761	1.000000|1.000000	0.71417|0.71417	0.708000|0.708000	0.30435|0.30435	0.938000|0.938000	0.57974|0.57974	6.222000|6.222000	0.72249|0.72249	2.480000|2.480000	0.83734|0.83734	0.561000|0.561000	0.74099|0.74099	TGC|TTG		0.617	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		58	160	0	0	0	0.00361	0	58	160				
SLC6A2	6530	broad.mit.edu	37	16	55719131	55719131	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr16:55719131C>A	ENST00000379906.2	+	4	976	c.721C>A	c.(721-723)Ctg>Atg	p.L241M	SLC6A2_ENST00000219833.8_Missense_Mutation_p.L241M|SLC6A2_ENST00000561820.1_Missense_Mutation_p.L241M|SLC6A2_ENST00000414754.3_Missense_Mutation_p.L241M|SLC6A2_ENST00000566163.1_Missense_Mutation_p.L241M|SLC6A2_ENST00000568943.1_Missense_Mutation_p.L241M|SLC6A2_ENST00000567238.1_Missense_Mutation_p.L136M	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	241					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.L241M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTTGCTCTGTCTGATGGTCGT	0.537																																							uc002eif.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)|pancreas(2)	8						c.(721-723)CTG>ATG		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						129.0	119.0	122.0					16																	55719131		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55719131C>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.721C>A	16.37:g.55719131C>A	ENSP00000369237:p.Leu241Met					SLC6A2_uc010ccd.2_Missense_Mutation_p.L241M|SLC6A2_uc002eig.2_Missense_Mutation_p.L241M|SLC6A2_uc002eih.2_Missense_Mutation_p.L241M|SLC6A2_uc002eii.2_Missense_Mutation_p.L136M|SLC6A2_uc002eij.2_Translation_Start_Site	p.L241M	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	5	832	+			241			Helical; Name=4; (Potential).		B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.721C>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591814	0.28357	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.80738	-1.41;-1.41;-1.41	5.65	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.88175	0.6366	M	0.72624	2.21	0.58432	D	0.999996	D;D;D	0.65815	0.995;0.995;0.995	D;D;D	0.70016	0.967;0.967;0.967	D	0.89298	0.3624	10	0.72032	D	0.01	.	14.0925	0.65000	0.0:0.927:0.0:0.073	.	241;136;241	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	M	241	ENSP00000394956:L241M;ENSP00000369237:L241M;ENSP00000219833:L241M	ENSP00000219833:L241M	L	+	1	2	SLC6A2	54276632	1.000000	0.71417	0.779000	0.31741	0.650000	0.38633	3.556000	0.53734	1.408000	0.46895	0.655000	0.94253	CTG		0.537	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			9	41	1	0	6.40141e-05	0.010729	7.38986e-05	9	41				
ZNF23	7571	broad.mit.edu	37	16	71482826	71482826	+	Missense_Mutation	SNP	C	C	T	rs368192477		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr16:71482826C>T	ENST00000393539.2	-	6	1915	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	ZNF23_ENST00000428724.2_Missense_Mutation_p.E310K|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.E368K|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.E368K|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.E310K	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	368					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)	p.E368K(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTTCCACACTCTTTACACTGA	0.428																																							uc002faf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1102-1104)GAG>AAG		zinc finger protein 23							73.0	67.0	69.0					16																	71482826		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71482826C>T	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1102G>A	16.37:g.71482826C>T	ENSP00000377171:p.Glu368Lys					ZNF23_uc002fad.2_Missense_Mutation_p.E310K|ZNF23_uc002fae.2_Missense_Mutation_p.E310K|ZNF23_uc010vmf.1_Missense_Mutation_p.E310K|ZNF23_uc002fag.2_Missense_Mutation_p.E310K|ZNF23_uc002fah.2_Missense_Mutation_p.E368K|ZNF23_uc002fai.2_Missense_Mutation_p.E407K	p.E368K	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1916	-		Ovarian(137;0.00768)	368			C2H2-type 8.		Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.1102G>A	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946565	0.53186	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44902	D	0.000416	T	0.21674	0.0522	L	0.48642	1.525	0.33385	D	0.575396	D;D	0.76494	0.974;0.999	P;D	0.78314	0.684;0.991	T	0.06338	-1.0832	10	0.62326	D	0.03	-30.6798	14.7277	0.69357	0.0:1.0:0.0:0.0	.	368;368	B3KR55;P17027	.;ZNF23_HUMAN	K	368;368;368;310;310;168	ENSP00000377171:E368K;ENSP00000349796:E368K;ENSP00000395712:E368K;ENSP00000387673:E310K	ENSP00000349796:E368K	E	-	1	0	ZNF23	70040327	0.000000	0.05858	0.989000	0.46669	0.981000	0.71138	1.080000	0.30779	2.595000	0.87683	0.555000	0.69702	GAG		0.428	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23	NM_145911		26	48	0	0	0	0.007291	0	26	48				
MINK1	50488	broad.mit.edu	37	17	4787674	4787674	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:4787674G>T	ENST00000355280.6	+	5	519	c.323G>T	c.(322-324)tGt>tTt	p.C108F	MINK1_ENST00000347992.7_Missense_Mutation_p.C108F|RN7SL784P_ENST00000577319.1_RNA|MINK1_ENST00000453408.3_Missense_Mutation_p.C108F	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1									p.C108F(2)		central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ATGGAGTTCTGTGGTGCTGGT	0.542																																							uc010vsl.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(322-324)TGT>TTT		misshapen-like kinase 1 isoform 3							148.0	153.0	152.0					17																	4787674		2089	4219	6308	SO:0001583	missense	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4787674G>T	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.323G>T	17.37:g.4787674G>T	ENSP00000347427:p.Cys108Phe					MINK1_uc010vsk.1_Missense_Mutation_p.C108F|MINK1_uc010vsm.1_Missense_Mutation_p.C108F|MINK1_uc010vsn.1_Missense_Mutation_p.C108F|MINK1_uc010vso.1_Missense_Mutation_p.C53F|MINK1_uc010vsp.1_5'Flank	p.C108F	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN			5	519	+			108			Protein kinase.			Missense_Mutation	SNP	ENST00000355280.6	37	c.323G>T	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050484	0.75960	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.26373	1.74;1.74;1.74	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.87578	0.997;0.997;0.998;0.997	T	0.62937	-0.6748	10	0.87932	D	0	.	15.4006	0.74838	0.0:0.0:1.0:0.0	.	108;108;108;108	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	F	108	ENSP00000347427:C108F;ENSP00000406487:C108F;ENSP00000269296:C108F	ENSP00000269296:C108F	C	+	2	0	MINK1	4728457	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.657000	0.98554	2.520000	0.84964	0.400000	0.26472	TGT		0.542	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		7	41	1	0	0.00198382	0.001984	0.00217045	7	41				
MYH13	8735	broad.mit.edu	37	17	10265549	10265549	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:10265549A>T	ENST00000418404.3	-	4	554	c.391T>A	c.(391-393)Tgg>Agg	p.W131R	MYH13_ENST00000252172.4_Missense_Mutation_p.W131R			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	131	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.W131R(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACCGGCAGCCACTTGTAGGGG	0.527																																							uc002gmk.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(391-393)TGG>AGG		myosin, heavy polypeptide 13, skeletal muscle							42.0	50.0	47.0					17																	10265549		2196	4279	6475	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10265549A>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.391T>A	17.37:g.10265549A>T	ENSP00000404570:p.Trp131Arg						p.W131R	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			5	481	-			131			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.391T>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329243	0.60743	.	.	ENSG00000006788	ENST00000252172	D	0.86097	-2.07	4.26	3.17	0.36434	Myosin head, motor domain (3);	.	.	.	.	T	0.79551	0.4465	L	0.46157	1.445	0.43593	D	0.995944	B	0.19200	0.034	B	0.28784	0.094	T	0.69591	-0.5104	9	0.20519	T	0.43	.	10.0184	0.42029	0.9186:0.0:0.0814:0.0	.	131	Q9UKX3	MYH13_HUMAN	R	131	ENSP00000252172:W131R	ENSP00000252172:W131R	W	-	1	0	MYH13	10206274	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	7.143000	0.77348	0.781000	0.33589	0.260000	0.18958	TGG		0.527	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		29	35	0	0	0	0.00361	0	29	35				
DNAH9	1770	broad.mit.edu	37	17	11583119	11583119	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:11583119A>T	ENST00000262442.4	+	18	3467	c.3399A>T	c.(3397-3399)ttA>ttT	p.L1133F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1133F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1133	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L1133F(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAGCGGCTTACTCAAGAAAG	0.433																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(3397-3399)TTA>TTT		dynein, axonemal, heavy chain 9 isoform 2							145.0	142.0	143.0					17																	11583119		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11583119A>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3399A>T	17.37:g.11583119A>T	ENSP00000262442:p.Leu1133Phe					DNAH9_uc010coo.2_Missense_Mutation_p.L427F	p.L1133F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	18	3467	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1133			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3399A>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.286588	0.40494	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.35789	1.33;1.29	5.55	-1.06	0.10002	.	0.089581	0.46442	D	0.000291	T	0.35068	0.0919	M	0.70595	2.14	0.80722	D	1	B	0.30193	0.272	B	0.33339	0.162	T	0.29243	-1.0018	10	0.54805	T	0.06	.	10.0879	0.42430	0.4146:0.0:0.5854:0.0	.	1133	Q9NYC9	DYH9_HUMAN	F	1133	ENSP00000262442:L1133F;ENSP00000414874:L1133F	ENSP00000262442:L1133F	L	+	3	2	DNAH9	11523844	1.000000	0.71417	0.996000	0.52242	0.081000	0.17604	1.475000	0.35409	0.045000	0.15804	-0.375000	0.07067	TTA		0.433	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		37	128	0	0	0	0.00623	0	37	128				
USP22	23326	broad.mit.edu	37	17	20922486	20922486	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:20922486T>C	ENST00000261497.4	-	4	634	c.431A>G	c.(430-432)aAg>aGg	p.K144R	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Missense_Mutation_p.K132R	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	144					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.K366R(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						AGTTGAAAACTTCTCTCCAAC	0.473																																							uc002gym.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(430-432)AAG>AGG		ubiquitin thiolesterase 22							218.0	213.0	214.0					17																	20922486		1941	4148	6089	SO:0001583	missense	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20922486T>C	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.431A>G	17.37:g.20922486T>C	ENSP00000261497:p.Lys144Arg					USP22_uc002gyn.3_Missense_Mutation_p.K132R|USP22_uc002gyl.3_Missense_Mutation_p.K39R	p.K144R	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN			4	635	-			144					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	ENST00000261497.4	37	c.431A>G	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	t	13.63	2.293769	0.40594	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.09911	2.94;2.93	4.42	4.42	0.53409	.	0.832808	0.10409	N	0.678183	T	0.11239	0.0274	L	0.40543	1.245	0.46437	D	0.999046	B;B	0.11235	0.002;0.004	B;B	0.12156	0.007;0.003	T	0.10451	-1.0629	10	0.19147	T	0.46	.	13.3443	0.60564	0.0:0.0:0.0:1.0	.	132;144	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	R	212;132;144	ENSP00000440950:K132R;ENSP00000261497:K144R	ENSP00000261497:K144R	K	-	2	0	USP22	20863078	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.353000	0.59411	1.640000	0.50565	0.455000	0.32223	AAG		0.473	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			41	116	0	0	0	0.003214	0	41	116				
LHX1	3975	broad.mit.edu	37	17	35297911	35297911	+	Silent	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:35297911C>G	ENST00000254457.5	+	3	1813	c.402C>G	c.(400-402)acC>acG	p.T134T	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	134					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T134T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				TCTTAGCCACCACGGGCAGTG	0.647																																							uc002hnh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(400-402)ACC>ACG		LIM homeobox protein 1							47.0	42.0	44.0					17																	35297911		2203	4300	6503	SO:0001819	synonymous_variant	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35297911C>G	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.402C>G	17.37:g.35297911C>G						LHX1_uc010cux.1_Silent_p.T42T	p.T134T	NM_005568	NP_005559	P48742	LHX1_HUMAN			3	1398	+		Breast(25;0.00607)	134					Q3MIW0	Silent	SNP	ENST00000254457.5	37	c.402C>G	CCDS11316.1																																																																																				0.647	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		12	35	0	0	0	0.010729	0	12	35				
GJC1	10052	broad.mit.edu	37	17	42882388	42882388	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:42882388C>A	ENST00000426548.1	-	3	1067	c.798G>T	c.(796-798)agG>agT	p.R266S	GJC1_ENST00000592524.1_Missense_Mutation_p.R266S|GJC1_ENST00000330514.4_Missense_Mutation_p.R266S|GJC1_ENST00000590758.1_Missense_Mutation_p.R266S	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	266					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)	p.R266S(1)		NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CAAGTTCCCTCCTTTTACTGT	0.433																																							uc002ihj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(796-798)AGG>AGT		connexin 45							131.0	131.0	131.0					17																	42882388		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882388C>A	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.798G>T	17.37:g.42882388C>A	ENSP00000411528:p.Arg266Ser					GJC1_uc002ihk.2_Missense_Mutation_p.R266S|GJC1_uc002ihl.2_Missense_Mutation_p.R266S|GJC1_uc010czx.2_Missense_Mutation_p.R266S|GJC1_uc010czy.1_Missense_Mutation_p.R127S	p.R266S	NM_005497	NP_005488	P36383	CXG1_HUMAN			2	1309	-		Prostate(33;0.0959)	266			Cytoplasmic (Potential).		B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.798G>T	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686677	0.29962	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.98060	-4.69;-4.69	4.82	2.81	0.32909	.	0.807435	0.11425	N	0.565369	D	0.94085	0.8104	L	0.34521	1.04	0.41847	D	0.990158	B	0.09022	0.002	B	0.14023	0.01	D	0.87897	0.2688	10	0.18710	T	0.47	.	9.3475	0.38118	0.0:0.7754:0.1452:0.0794	.	266	P36383	CXG1_HUMAN	S	266	ENSP00000411528:R266S;ENSP00000333193:R266S	ENSP00000333193:R266S	R	-	3	2	GJC1	40237914	0.998000	0.40836	1.000000	0.80357	0.910000	0.53928	0.659000	0.24994	0.623000	0.30267	-0.251000	0.11542	AGG		0.433	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		20	190	1	0	8.10497e-08	0.010504	1.00591e-07	20	190				
ANKFN1	162282	broad.mit.edu	37	17	54517752	54517752	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:54517752G>T	ENST00000318698.2	+	8	1019	c.984G>T	c.(982-984)caG>caT	p.Q328H	ANKFN1_ENST00000566473.2_Missense_Mutation_p.Q328H	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	328	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.							p.Q328H(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATAATCTGCAGACTCTGAGAT	0.448																																							uc002iun.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(982-984)CAG>CAT		ankyrin-repeat and fibronectin type III domain							102.0	105.0	104.0					17																	54517752		2203	4300	6503	SO:0001583	missense	162282							g.chr17:54517752G>T	AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.984G>T	17.37:g.54517752G>T	ENSP00000321627:p.Gln328His						p.Q328H	NM_153228	NP_694960	Q8N957	ANKF1_HUMAN			8	1019	+			328			Fibronectin type-III.			Missense_Mutation	SNP	ENST00000318698.2	37	c.984G>T	CCDS32686.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452661	0.26074	.	.	ENSG00000153930	ENST00000318698	T	0.57436	0.4	5.69	4.7	0.59300	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.216900	0.51477	N	0.000095	T	0.44498	0.1296	L	0.43701	1.375	0.42567	D	0.993163	B	0.11235	0.004	B	0.15052	0.012	T	0.36359	-0.9751	10	0.42905	T	0.14	-3.3629	11.2948	0.49272	0.0:0.2525:0.6157:0.1317	.	328	Q8N957	ANKF1_HUMAN	H	328	ENSP00000321627:Q328H	ENSP00000321627:Q328H	Q	+	3	2	ANKFN1	51872751	1.000000	0.71417	0.998000	0.56505	0.841000	0.47740	2.370000	0.44240	1.375000	0.46248	0.650000	0.86243	CAG		0.448	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338043.1	NM_153228		12	50	1	0	3.27435e-08	0.00245	4.11259e-08	12	50				
RAB40B	10966	broad.mit.edu	37	17	80622412	80622412	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:80622412T>A	ENST00000571995.1	-	2	294	c.163A>T	c.(163-165)Acc>Tcc	p.T55S	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Missense_Mutation_p.T55S	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	55					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.T55S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			AGCAGGATGGTGGTCGTCTTG	0.627																																							uc002kft.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(163-165)ACC>TCC		RAB40B, member RAS oncogene family							112.0	99.0	104.0					17																	80622412		2203	4300	6503	SO:0001583	missense	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80622412T>A	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.163A>T	17.37:g.80622412T>A	ENSP00000461785:p.Thr55Ser					RAB40B_uc002kfs.2_RNA	p.T55S	NM_006822	NP_006813	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		2	289	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	55					Q8WVG3	Missense_Mutation	SNP	ENST00000571995.1	37	c.163A>T	CCDS11816.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703197	0.88924	.	.	ENSG00000141542	ENST00000269347;ENST00000538809	.	.	.	3.97	3.97	0.46021	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000022	T	0.68384	0.2995	L	0.45581	1.43	0.58432	D	0.999996	D	0.76494	0.999	D	0.76575	0.988	T	0.72107	-0.4390	9	0.87932	D	0	.	13.2623	0.60113	0.0:0.0:0.0:1.0	.	55	Q12829	RB40B_HUMAN	S	55;89	.	ENSP00000269347:T55S	T	-	1	0	RAB40B	78215701	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.516000	0.67055	1.753000	0.51906	0.454000	0.30748	ACC		0.627	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			22	86	0	0	0	0.005443	0	22	86				
TBCD	6904	broad.mit.edu	37	17	80828189	80828189	+	Missense_Mutation	SNP	G	G	T	rs372560471		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr17:80828189G>T	ENST00000355528.4	+	14	1538	c.1408G>T	c.(1408-1410)Gtg>Ttg	p.V470L	TBCD_ENST00000397466.2_Missense_Mutation_p.V84L|TBCD_ENST00000539345.2_Missense_Mutation_p.V470L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	470					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.V470L(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CGCCTGCTACGTGTGCTGGGC	0.632																																							uc002kfz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1408-1410)GTG>TTG		beta-tubulin cofactor D		G	LEU/VAL	0,4310		0,0,2155	41.0	47.0	45.0		1408	5.5	1.0	17		45	1,8509		0,1,4254	no	missense	TBCD	NM_005993.4	32	0,1,6409	TT,TG,GG		0.0118,0.0,0.0078	benign	470/1193	80828189	1,12819	2155	4255	6410	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80828189G>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1408G>T	17.37:g.80828189G>T	ENSP00000347719:p.Val470Leu					TBCD_uc002kfx.1_Missense_Mutation_p.V453L|TBCD_uc002kfy.1_Missense_Mutation_p.V470L	p.V470L	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		14	1538	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	470					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.1408G>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431682	0.62844	0.0	1.18E-4	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.65732	-0.17;-0.17	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.171607	0.38548	N	0.001654	T	0.56411	0.1983	L	0.46741	1.465	0.50632	D	0.999888	B;P;B	0.36315	0.136;0.547;0.088	B;B;B	0.35770	0.041;0.21;0.104	T	0.54827	-0.8235	9	.	.	.	.	16.1871	0.81960	0.0:0.0:1.0:0.0	.	470;470;470	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	L	470;221;84;470	ENSP00000347719:V470L;ENSP00000380608:V84L	.	V	+	1	0	TBCD	78421478	1.000000	0.71417	0.995000	0.50966	0.665000	0.39181	7.018000	0.76406	2.591000	0.87537	0.655000	0.94253	GTG		0.632	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		9	34	1	0	4.36969e-10	0.001855	5.78938e-10	9	34				
CLUL1	27098	broad.mit.edu	37	18	627315	627315	+	Missense_Mutation	SNP	A	A	T	rs115407065		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr18:627315A>T	ENST00000400606.2	+	5	787	c.642A>T	c.(640-642)caA>caT	p.Q214H	CLUL1_ENST00000581619.1_Missense_Mutation_p.Q239H|CLUL1_ENST00000338387.7_Missense_Mutation_p.Q214H|CLUL1_ENST00000540035.1_Missense_Mutation_p.Q266H|CLUL1_ENST00000579494.1_Missense_Mutation_p.Q214H	NM_014410.4	NP_055225.1	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	214					cell death (GO:0008219)	extracellular region (GO:0005576)		p.Q214H(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGACTTTTCAATCACATTTCA	0.408																																							uc002kkp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(640-642)CAA>CAT		clusterin-like 1 (retinal) precursor							194.0	179.0	184.0					18																	627315		1874	4117	5991	SO:0001583	missense	27098				cell death	extracellular region		g.chr18:627315A>T	D63813	CCDS42405.1, CCDS74187.1	18p11.32	2008-07-28				ENSG00000079101			2096	protein-coding gene	gene with protein product						10675623, 14507903	Standard	NM_199167		Approved		uc002kkq.3	Q15846		ENST00000400606.2:c.642A>T	18.37:g.627315A>T	ENSP00000383449:p.Gln214His					CLUL1_uc010wys.1_Missense_Mutation_p.Q266H|CLUL1_uc002kkq.2_Missense_Mutation_p.Q214H	p.Q214H	NM_014410	NP_055225	Q15846	CLUL1_HUMAN			5	787	+			214					A0FDN7	Missense_Mutation	SNP	ENST00000400606.2	37	c.642A>T	CCDS42405.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.063526	0.36373	.	.	ENSG00000079101	ENST00000400606;ENST00000540035;ENST00000338387	T;T;T	0.24538	1.85;1.85;1.85	5.86	-4.11	0.03928	Clusterin, N-terminal (1);	0.246918	0.43747	N	0.000532	T	0.23133	0.0559	L	0.59436	1.845	0.20638	N	0.99987	P;P	0.40332	0.713;0.521	B;B	0.41571	0.36;0.231	T	0.19712	-1.0297	10	0.62326	D	0.03	-13.7668	10.3954	0.44198	0.3569:0.0:0.5358:0.1073	.	266;214	F5GWQ8;Q15846	.;CLUL1_HUMAN	H	214;266;214	ENSP00000383449:Q214H;ENSP00000441726:Q266H;ENSP00000341128:Q214H	ENSP00000341128:Q214H	Q	+	3	2	CLUL1	617315	0.033000	0.19621	0.144000	0.22314	0.776000	0.43924	0.085000	0.14912	-0.735000	0.04837	0.459000	0.35465	CAA		0.408	CLUL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441183.1			83	266	0	0	0	0.00361	0	83	266				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0						uc010dln.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)	skin(3)	3						c.(1519-1521)AAA>GAA		ANKRD26-like family B, member 2							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu					POTEC_uc010xaj.1_RNA	p.K507E	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1973	-			507			Potential.			Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	68	0	0	0	0.004672	0	3	68				
ASXL3	80816	broad.mit.edu	37	18	31319575	31319575	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr18:31319575T>C	ENST00000269197.5	+	11	2207	c.2207T>C	c.(2206-2208)cTc>cCc	p.L736P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	736	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L736P(1)|p.L443P(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCCATGCTTCTCACCTCTGAG	0.413																																							uc010dmg.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(2206-2208)CTC>CCC		additional sex combs like 3							254.0	255.0	254.0					18																	31319575		1928	4143	6071	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319575T>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2207T>C	18.37:g.31319575T>C	ENSP00000269197:p.Leu736Pro					ASXL3_uc002kxq.2_Missense_Mutation_p.L443P	p.L736P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	2262	+			736			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.2207T>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303465	0.60195	.	.	ENSG00000141431	ENST00000269197	T	0.27890	1.64	6.03	6.03	0.97812	.	1.365650	0.04661	N	0.408868	T	0.57095	0.2030	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04307	-1.0961	10	0.41790	T	0.15	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	736	Q9C0F0	ASXL3_HUMAN	P	736	ENSP00000269197:L736P	ENSP00000269197:L736P	L	+	2	0	ASXL3	29573573	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.252000	0.65445	2.313000	0.78055	0.455000	0.32223	CTC		0.413	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			120	351	0	0	0	0.00361	0	120	351				
EPG5	57724	broad.mit.edu	37	18	43460143	43460143	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr18:43460143A>T	ENST00000282041.5	-	32	5598	c.5564T>A	c.(5563-5565)cTg>cAg	p.L1855Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1855					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.L1855Q(1)		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						CAGGGCTCTCAGAGTGGCCTT	0.622											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002lbm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(5563-5565)CTG>CAG		hypothetical protein LOC57724							19.0	20.0	20.0					18																	43460143		1874	4094	5968	SO:0001583	missense	57724				autophagy			g.chr18:43460143A>T	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.5564T>A	18.37:g.43460143A>T	ENSP00000282041:p.Leu1855Gln		OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	916	KIAA1632_uc010xcq.1_Missense_Mutation_p.L409Q|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.L730Q	p.L1855Q	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			32	5664	-			1855					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.5564T>A	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	A	23.5	4.429293	0.83776	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.17213	2.29	5.65	5.65	0.86999	.	.	.	.	.	T	0.40862	0.1134	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23833	-1.0177	9	0.87932	D	0	-7.4017	15.8763	0.79166	1.0:0.0:0.0:0.0	.	1855	Q9HCE0	EPG5_HUMAN	Q	1855;730	ENSP00000282041:L1855Q	ENSP00000282041:L1855Q	L	-	2	0	EPG5	41714141	1.000000	0.71417	1.000000	0.80357	0.600000	0.36913	8.404000	0.90210	2.145000	0.66743	0.374000	0.22700	CTG		0.622	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		9	37	0	0	0	0.006214	0	9	37				
RTTN	25914	broad.mit.edu	37	18	67860546	67860546	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr18:67860546C>A	ENST00000255674.6	-	8	1271	c.985G>T	c.(985-987)Gac>Tac	p.D329Y	RTTN_ENST00000454359.1_Missense_Mutation_p.D329Y|RTTN_ENST00000437017.1_Missense_Mutation_p.D329Y	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	329					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.D329Y(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCATCCCAGTCCTGGCCATCT	0.537																																							uc002lkp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(985-987)GAC>TAC		rotatin							52.0	54.0	53.0					18																	67860546		1921	4133	6054	SO:0001583	missense	25914						binding	g.chr18:67860546C>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.985G>T	18.37:g.67860546C>A	ENSP00000255674:p.Asp329Tyr					RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.D329Y	p.D329Y	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			8	1053	-		Esophageal squamous(42;0.129)	329					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.985G>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802594	0.50315	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.74737	-0.17;-0.27;-0.87	5.34	5.34	0.76211	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	D	0.86201	0.5876	M	0.70275	2.135	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87456	0.2404	10	0.87932	D	0	.	19.0662	0.93113	0.0:1.0:0.0:0.0	.	329;329	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	Y	329	ENSP00000255674:D329Y;ENSP00000402352:D329Y;ENSP00000399520:D329Y	ENSP00000255674:D329Y	D	-	1	0	RTTN	66011526	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.575000	0.82447	2.501000	0.84356	0.591000	0.81541	GAC		0.537	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		23	65	1	0	2.39556e-15	0.00278	3.48244e-15	23	65				
LSR	51599	broad.mit.edu	37	19	35757268	35757268	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:35757268C>T	ENST00000361790.3	+	6	1088	c.929C>T	c.(928-930)gCc>gTc	p.A310V	USF2_ENST00000379134.3_5'Flank|LSR_ENST00000602122.1_Missense_Mutation_p.A291V|USF2_ENST00000595068.1_5'Flank|USF2_ENST00000594064.1_5'Flank|LSR_ENST00000427250.1_Missense_Mutation_p.A154V|LSR_ENST00000347609.4_Missense_Mutation_p.A273V|USF2_ENST00000343550.5_5'Flank|AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000360798.3_Missense_Mutation_p.A242V|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000354900.3_Missense_Mutation_p.A291V	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	310					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)		p.A310V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACAGTGTATGCCGCCGGCAAA	0.617																																							uc002nyl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(928-930)GCC>GTC		lipolysis stimulated lipoprotein receptor							81.0	82.0	82.0					19																	35757268		2203	4300	6503	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757268C>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.929C>T	19.37:g.35757268C>T	ENSP00000354575:p.Ala310Val					LSR_uc002nym.2_Missense_Mutation_p.A291V|LSR_uc002nyn.2_Missense_Mutation_p.A242V|LSR_uc002nyo.2_Missense_Mutation_p.A291V|LSR_uc010xsr.1_Missense_Mutation_p.A202V|LSR_uc002nyp.2_Missense_Mutation_p.A273V|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank	p.A310V	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	1152	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		310			Cytoplasmic (Potential).		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.929C>T	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708858	0.30322	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	T;T;T;T;T	0.64438	0.49;0.64;0.29;0.31;-0.1	3.99	2.78	0.32641	.	0.138581	0.47455	D	0.000227	T	0.40448	0.1117	L	0.44542	1.39	0.28193	N	0.92769	B;B;B;P;B;B	0.35011	0.007;0.004;0.052;0.48;0.031;0.016	B;B;B;B;B;B	0.28465	0.015;0.006;0.022;0.09;0.01;0.01	T	0.28522	-1.0041	10	0.06891	T	0.86	-5.4264	4.5353	0.12026	0.2068:0.6652:0.0:0.1279	.	248;273;291;242;291;310	Q9BT33;Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;.;LSR_HUMAN	V	310;291;242;273;154	ENSP00000354575:A310V;ENSP00000346976:A291V;ENSP00000354034:A242V;ENSP00000262627:A273V;ENSP00000394479:A154V	ENSP00000262627:A273V	A	+	2	0	LSR	40449108	0.983000	0.35010	0.413000	0.26509	0.596000	0.36781	0.971000	0.29396	0.705000	0.31890	0.462000	0.41574	GCC		0.617	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		4	105	0	0	0	0.009096	0	4	105				
USF2	7392	broad.mit.edu	37	19	35761708	35761708	+	Splice_Site	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:35761708C>T	ENST00000222305.3	+	6	705	c.668C>T	c.(667-669)cCa>cTa	p.P223L	USF2_ENST00000379134.3_Splice_Site_p.P92L|USF2_ENST00000595068.1_Splice_Site_p.P223L|USF2_ENST00000594064.1_Splice_Site_p.P221L|USF2_ENST00000343550.5_Splice_Site_p.P156L	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	223					lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P223L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTTACTCTCCGTATGTGCAG	0.572																																					NSCLC(103;173 2832 8890)	NSCLC(103;173 2832 8890)	uc002nyq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(667-669)CCA>CTA		upstream stimulatory factor 2 isoform 1							71.0	66.0	67.0					19																	35761708		2203	4300	6503	SO:0001630	splice_region_variant	7392				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:35761708C>T	AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.668+1C>T	19.37:g.35761708C>T						USF2_uc010xss.1_Missense_Mutation_p.P223L|USF2_uc002nyr.1_Missense_Mutation_p.P156L|USF2_uc002nys.1_Missense_Mutation_p.P25L|USF2_uc002nyt.1_Missense_Mutation_p.P92L|USF2_uc002nyu.1_Missense_Mutation_p.P25L|USF2_uc002nyv.1_Missense_Mutation_p.P25L	p.P223L	NM_003367	NP_003358	Q15853	USF2_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	777	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		223					O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	Missense_Mutation	SNP	ENST00000222305.3	37	c.668C>T	CCDS12452.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501145	0.44455	.	.	ENSG00000105698	ENST00000222305;ENST00000343550;ENST00000379134	D;D;D	0.93763	-3.22;-3.23;-3.28	4.01	2.97	0.34412	.	0.212531	0.40302	N	0.001134	D	0.87974	0.6313	L	0.48642	1.525	0.80722	D	1	P;B;P;P;B	0.47677	0.721;0.11;0.899;0.727;0.067	B;B;B;B;B	0.36030	0.115;0.04;0.195;0.216;0.018	D	0.86489	0.1796	10	0.59425	D	0.04	.	9.7388	0.40404	0.0:0.8965:0.0:0.1035	.	221;223;92;156;223	B4DLJ1;Q15853-2;Q6YI47;Q15853-3;Q15853	.;.;.;.;USF2_HUMAN	L	223;156;92	ENSP00000222305:P223L;ENSP00000340633:P156L;ENSP00000368429:P92L	ENSP00000222305:P223L	P	+	2	0	USF2	40453548	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.253000	0.78320	1.039000	0.40074	0.555000	0.69702	CCA		0.572	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466056.1	NM_003367	Missense_Mutation	32	94	0	0	0	0.003271	0	32	94				
EID2B	126272	broad.mit.edu	37	19	40023401	40023401	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:40023401G>A	ENST00000326282.4	-	1	93	c.42C>T	c.(40-42)ccC>ccT	p.P14P	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_5'UTR	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B									p.P14P(1)		endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCTATCTCCGGGGAGCTCGG	0.652											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002olz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(40-42)CCC>CCT		EP300 interacting inhibitor of differentiation							20.0	23.0	22.0					19																	40023401		2160	4191	6351	SO:0001819	synonymous_variant	126272				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:40023401G>A	AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.42C>T	19.37:g.40023401G>A			OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890		p.P14P	NM_152361	NP_689574	Q96D98	EID2B_HUMAN	Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	94	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		14						Silent	SNP	ENST00000326282.4	37	c.42C>T	CCDS12539.1																																																																																				0.652	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1	NM_152361		3	9	0	0	0	0.004672	0	3	9				
CCDC61	729440	broad.mit.edu	37	19	46521386	46521386	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:46521386C>T	ENST00000595358.1	+	13	1468	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	CCDC61_ENST00000594087.1_Silent_p.S293S|CCDC61_ENST00000263284.2_Silent_p.S492S|MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000536603.1_Silent_p.S293S	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	473						centrosome (GO:0005813)		p.S492S(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		TGGCCAACTCCGGGGGCTGGG	0.612																																							uc002pdw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1474-1476)TCC>TCT		coiled-coil domain containing 61							19.0	21.0	20.0					19																	46521386		1901	4108	6009	SO:0001819	synonymous_variant	729440							g.chr19:46521386C>T		CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.1419C>T	19.37:g.46521386C>T						MIR769_hsa-mir-769|MI0003834_5'Flank	p.S492S	NM_001080402	NP_001073871				OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)	14	1476	+		all_neural(266;0.113)|Ovarian(192;0.127)						C8CAP4|Q9HDB6	Silent	SNP	ENST00000595358.1	37	c.1476C>T	CCDS46120.2																																																																																				0.612	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461689.1	NM_001080402		4	18	0	0	0	0.000602	0	4	18				
NLRP7	199713	broad.mit.edu	37	19	55450436	55450436	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:55450436G>A	ENST00000590030.1	-	3	1791	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	NLRP7_ENST00000446217.1_Missense_Mutation_p.A612V|NLRP7_ENST00000328092.5_Missense_Mutation_p.A584V|NLRP7_ENST00000592784.1_Missense_Mutation_p.A584V|NLRP7_ENST00000448121.2_Missense_Mutation_p.A584V|NLRP7_ENST00000588756.1_Missense_Mutation_p.A584V|NLRP7_ENST00000340844.2_Missense_Mutation_p.A584V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	584							ATP binding (GO:0005524)	p.A584V(3)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CACCACCTTCGCCAGCTCCTC	0.493																																							uc002qih.3		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1750-1752)GCG>GTG		NACHT, leucine rich repeat and PYD containing 7							77.0	73.0	75.0					19																	55450436		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55450436G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1751C>T	19.37:g.55450436G>A	ENSP00000465520:p.Ala584Val					NLRP7_uc002qig.3_Missense_Mutation_p.A584V|NLRP7_uc002qii.3_Missense_Mutation_p.A584V|NLRP7_uc010esk.2_Missense_Mutation_p.A584V|NLRP7_uc010esl.2_Missense_Mutation_p.A612V	p.A584V	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1827	-			584					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1751C>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.134757	0.00338	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	1.92	-0.316	0.12743	.	0.288824	0.18777	N	0.131456	T	0.16896	0.0406	N	0.05306	-0.075	0.09310	N	1	B;B;B;B	0.17667	0.007;0.007;0.007;0.023	B;B;B;B	0.09377	0.001;0.002;0.002;0.004	T	0.28004	-1.0057	10	0.02654	T	1	.	5.1222	0.14865	0.794:0.0:0.206:0.0	.	612;584;584;584	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	V	584;584;584;612;351	ENSP00000329568:A584V;ENSP00000409137:A584V;ENSP00000339491:A584V;ENSP00000414273:A612V	ENSP00000329568:A584V	A	-	2	0	NLRP7	60142248	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.136000	0.15974	-0.148000	0.11234	-1.263000	0.01449	GCG		0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		6	62	0	0	0	0.00308	0	6	62				
NLRP11	204801	broad.mit.edu	37	19	56320357	56320357	+	Missense_Mutation	SNP	G	G	A	rs374796362		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:56320357G>A	ENST00000589093.1	-	3	1712	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	NLRP11_ENST00000592953.1_Missense_Mutation_p.T441M|NLRP11_ENST00000589824.2_Missense_Mutation_p.T540M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T540M|NLRP11_ENST00000443188.1_Missense_Mutation_p.T540M			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	540							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.T540M(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATATGGTGCGTCAACTTTTC	0.448																																							uc010ygf.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1618-1620)ACG>ATG		NLR family, pyrin domain containing 11		G	MET/THR	0,4406		0,0,2203	163.0	151.0	155.0		1619	-4.0	0.0	19		155	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP11	NM_145007.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	540/1034	56320357	1,13005	2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56320357G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1619C>T	19.37:g.56320357G>A	ENSP00000466285:p.Thr540Met					NLRP11_uc002qlz.2_Missense_Mutation_p.T441M|NLRP11_uc002qmb.2_Missense_Mutation_p.T441M|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.T540M	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2330	-		Colorectal(82;0.0002)	540					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.1619C>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	2.480	-0.319809	0.05386	0.0	1.16E-4	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.74002	-0.8;-0.74	1.99	-3.99	0.04069	.	.	.	.	.	T	0.51176	0.1659	N	0.22421	0.69	0.09310	N	1	B;B	0.11235	0.003;0.004	B;B	0.17098	0.007;0.017	T	0.24870	-1.0148	9	0.37606	T	0.19	.	0.2614	0.00219	0.3264:0.2693:0.1804:0.224	.	540;540	P59045;P59045-2	NAL11_HUMAN;.	M	540	ENSP00000409898:T540M;ENSP00000353251:T540M	ENSP00000353251:T540M	T	-	2	0	NLRP11	61012169	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.189000	0.00277	-1.949000	0.01031	-1.153000	0.01818	ACG		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		27	156	0	0	0	0.007291	0	27	156				
NLRP4	147945	broad.mit.edu	37	19	56369782	56369782	+	Silent	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:56369782G>T	ENST00000301295.6	+	3	1445	c.1023G>T	c.(1021-1023)ccG>ccT	p.P341P	NLRP4_ENST00000587891.1_Silent_p.P266P|NLRP4_ENST00000346986.5_Silent_p.P341P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	341	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.P341P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCCAAATCCCGCTCCTCTGCT	0.473																																							uc002qmd.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1021-1023)CCG>CCT		NLR family, pyrin domain containing 4							53.0	54.0	54.0					19																	56369782		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56369782G>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1023G>T	19.37:g.56369782G>T						NLRP4_uc002qmf.2_Silent_p.P266P|NLRP4_uc010etf.2_Silent_p.P172P	p.P341P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1445	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	341			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1023G>T	CCDS12936.1																																																																																				0.473	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		13	66	1	0	0.000308642	0.003163	0.00034612	13	66				
COLEC11	78989	broad.mit.edu	37	2	3685151	3685151	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:3685151C>A	ENST00000349077.4	+	4	334	c.231C>A	c.(229-231)ggC>ggA	p.G77G	COLEC11_ENST00000418971.2_Silent_p.G91G|COLEC11_ENST00000382062.2_Intron|COLEC11_ENST00000402922.1_Intron|COLEC11_ENST00000402794.1_Silent_p.G27G|COLEC11_ENST00000236693.7_Silent_p.G74G|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000403096.3_Silent_p.G51G	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	77	Collagen-like.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.G91G(1)|p.G74G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GACAGAAAGGCAGTGTGGGTC	0.522																																							uc002qya.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(229-231)GGC>GGA		collectin sub-family member 11 isoform a							264.0	208.0	227.0					2																	3685151		2203	4300	6503	SO:0001819	synonymous_variant	78989					collagen	mannose binding	g.chr2:3685151C>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.231C>A	2.37:g.3685151C>A						COLEC11_uc002qxz.2_Silent_p.G74G|COLEC11_uc002qyb.2_Silent_p.G53G|COLEC11_uc002qyc.2_Intron|COLEC11_uc010ewo.2_Intron|COLEC11_uc010ewp.2_Silent_p.G51G|COLEC11_uc010ewq.2_Silent_p.G27G|COLEC11_uc010ewr.2_Intron|COLEC11_uc010ews.2_Intron	p.G77G	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	4	379	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		77			Collagen-like.		A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	ENST00000349077.4	37	c.231C>A	CCDS1649.1																																																																																				0.522	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	NM_024027		11	82	1	0	1.58986e-06	0.008291	1.92007e-06	11	82				
SMC6	79677	broad.mit.edu	37	2	17896178	17896178	+	Silent	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:17896178T>A	ENST00000448223.2	-	16	1949	c.1680A>T	c.(1678-1680)ccA>ccT	p.P560P	SMC6_ENST00000402989.1_Silent_p.P560P|SMC6_ENST00000351948.4_Silent_p.P560P|SMC6_ENST00000381272.4_Silent_p.P586P	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	560	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.P560P(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTATTATCGGTGGCCGTGAGG	0.403																																							uc002rco.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6						c.(1678-1680)CCA>CCT		SMC6 protein							110.0	107.0	108.0					2																	17896178		2203	4300	6503	SO:0001819	synonymous_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17896178T>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1680A>T	2.37:g.17896178T>A						SMC6_uc010exo.2_Silent_p.P560P|SMC6_uc002rcn.2_Silent_p.P560P|SMC6_uc002rcp.1_Silent_p.P586P|SMC6_uc002rcq.2_Silent_p.P586P	p.P560P	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN			16	1976	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		560			Flexible hinge.		A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Silent	SNP	ENST00000448223.2	37	c.1680A>T	CCDS1690.1																																																																																				0.403	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		52	115	0	0	0	0.00361	0	52	115				
NRXN1	9378	broad.mit.edu	37	2	50149296	50149296	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:50149296A>G	ENST00000406316.2	-	22	5696	c.4220T>C	c.(4219-4221)aTa>aCa	p.I1407T	NRXN1_ENST00000406859.3_Missense_Mutation_p.I1407T|NRXN1_ENST00000342183.5_Missense_Mutation_p.I372T|NRXN1_ENST00000401710.1_Missense_Mutation_p.I425T|NRXN1_ENST00000401669.2_Missense_Mutation_p.I1437T|NRXN1_ENST00000402717.3_Missense_Mutation_p.I1429T|NRXN1_ENST00000405472.3_Missense_Mutation_p.I1429T|NRXN1_ENST00000404971.1_Missense_Mutation_p.I1477T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1407					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.I372T(1)|p.I1407T(1)|p.I1477T(1)|p.I1478T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGCGGCTACTATCCCAACGAC	0.567																																							uc010fbp.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1114-1116)ATA>ACA		neurexin 1 isoform beta precursor							119.0	96.0	104.0					2																	50149296		2203	4300	6503	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50149296A>G	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4220T>C	2.37:g.50149296A>G	ENSP00000384311:p.Ile1407Thr					NRXN1_uc002rxb.3_Missense_Mutation_p.I1106T|NRXN1_uc010fbq.2_Missense_Mutation_p.I1477T|NRXN1_uc002rxe.3_Missense_Mutation_p.I1407T|NRXN1_uc010yon.1_Missense_Mutation_p.I72T|NRXN1_uc002rxa.3_Missense_Mutation_p.I69T	p.I372T	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	1922	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	372			Helical; (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1115T>C	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.32|19.32	3.805823|3.805823	0.70682|0.70682	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000342183;ENST00000536347;ENST00000401710;ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859|ENST00000412315	T;T;T;T;T;T;T;T|.	0.78246|.	0.28;1.53;-0.47;-0.48;-1.16;-1.04;-0.76;-0.62|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.000000|.	0.50627|.	U|.	0.000104|.	T|.	0.76695|.	0.4023|.	M|M	0.77313|0.77313	2.365|2.365	0.51482|0.51482	D|D	0.999923|0.999923	P;D;D;P;P;P|.	0.71674|.	0.89;0.998;0.981;0.952;0.948;0.656|.	D;D;D;P;P;P|.	0.68765|.	0.923;0.948;0.96;0.652;0.7;0.76|.	T|.	0.77250|.	-0.2657|.	10|.	0.87932|.	D|.	0|.	.|.	16.4473|16.4473	0.83942|0.83942	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	72;1477;372;1407;1426;69|.	B4DIT5;Q9ULB1-3;P58400;F8WB18;A7E294;Q5HYI0|.	.;.;NRX1B_HUMAN;.;.;.|.	T|Q	372;326;425;1477;1407;1429;1437;1478;1429;1407|140	ENSP00000341184:I372T;ENSP00000385580:I425T;ENSP00000385142:I1477T;ENSP00000384311:I1407T;ENSP00000434015:I1429T;ENSP00000385017:I1437T;ENSP00000385434:I1429T;ENSP00000385681:I1407T|.	ENSP00000341184:I372T|.	I|X	-|-	2|1	0|0	NRXN1|NRXN1	50002800|50002800	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.989000|0.989000	0.77384|0.77384	9.339000|9.339000	0.96797|0.96797	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	ATA|TAG		0.567	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			9	65	0	0	0	0.001855	0	9	65				
REG3A	5068	broad.mit.edu	37	2	79384741	79384741	+	Silent	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:79384741G>C	ENST00000409839.3	-	5	453	c.417C>G	c.(415-417)acC>acG	p.T139T	REG3A_ENST00000393878.1_Silent_p.T139T|REG3A_ENST00000305165.2_Silent_p.T139T|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	139	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.T139T(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GGCTTGAGATGGTGGAGGGAT	0.542																																							uc002sod.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(415-417)ACC>ACG		pancreatitis-associated protein precursor							123.0	119.0	120.0					2																	79384741		2203	4300	6503	SO:0001819	synonymous_variant	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79384741G>C	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.417C>G	2.37:g.79384741G>C						REG3A_uc002soe.1_Silent_p.T139T|REG3A_uc002sof.1_Silent_p.T139T	p.T139T	NM_138938	NP_620355	Q06141	REG3A_HUMAN			4	672	-			139			C-type lectin.			Silent	SNP	ENST00000409839.3	37	c.417C>G	CCDS1965.1																																																																																				0.542	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		45	89	0	0	0	0.011902	0	45	89				
FAHD2A	51011	broad.mit.edu	37	2	96078209	96078209	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:96078209G>T	ENST00000233379.4	+	6	866	c.713G>T	c.(712-714)cGa>cTa	p.R238L	FAHD2A_ENST00000447036.1_Missense_Mutation_p.R238L	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	238							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.R238L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						ATCTGCTGCCGAGTGAATGGG	0.498																																							uc002sur.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(712-714)CGA>CTA		fumarylacetoacetate hydrolase domain containing							108.0	106.0	107.0					2																	96078209		2203	4300	6503	SO:0001583	missense	51011						hydrolase activity|metal ion binding	g.chr2:96078209G>T	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.713G>T	2.37:g.96078209G>T	ENSP00000233379:p.Arg238Leu					FAHD2A_uc002sus.2_Missense_Mutation_p.R238L|uc002sut.1_5'Flank	p.R238L	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN			6	892	+			238					Q9Y3B0	Missense_Mutation	SNP	ENST00000233379.4	37	c.713G>T	CCDS2014.1	.	.	.	.	.	.	.	.	.	.	G	8.589	0.884149	0.17467	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	D;D	0.95272	-3.66;-3.66	3.38	3.38	0.38709	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.263058	0.31834	N	0.006985	D	0.90772	0.7103	L	0.45352	1.415	0.36588	D	0.873932	B	0.19200	0.034	B	0.25506	0.061	D	0.88990	0.3414	10	0.25106	T	0.35	.	12.5845	0.56410	0.0:0.0:1.0:0.0	.	238	Q96GK7	FAH2A_HUMAN	L	238	ENSP00000406424:R238L;ENSP00000233379:R238L	ENSP00000233379:R238L	R	+	2	0	FAHD2A	95441936	1.000000	0.71417	0.978000	0.43139	0.981000	0.71138	4.379000	0.59575	1.876000	0.54355	0.491000	0.48974	CGA		0.498	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044		30	98	1	0	2.08457e-15	0.010818	3.04444e-15	30	98				
GCC2	9648	broad.mit.edu	37	2	109086113	109086113	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:109086113G>T	ENST00000309863.6	+	6	1042	c.328G>T	c.(328-330)Gta>Tta	p.V110L	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	110					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.V110L(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATAGGATTCTGTAACAAAGAT	0.328																																							uc002tec.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(328-330)GTA>TTA		GRIP and coiled-coil domain-containing 2							52.0	61.0	57.0					2																	109086113		2196	4297	6493	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109086113G>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.328G>T	2.37:g.109086113G>T	ENSP00000307939:p.Val110Leu					GCC2_uc002ted.2_Missense_Mutation_p.V9L	p.V110L	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	482	+			110			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.328G>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	8.490	0.861872	0.17178	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409821;ENST00000409896	T	0.29397	1.57	5.37	2.07	0.26955	.	0.596299	0.16415	N	0.215449	T	0.17746	0.0426	L	0.32530	0.975	0.22926	N	0.998556	B	0.25667	0.131	B	0.21546	0.035	T	0.25745	-1.0123	10	0.09843	T	0.71	.	6.8966	0.24259	0.2653:0.1278:0.6069:0.0	.	110	Q8IWJ2	GCC2_HUMAN	L	110;110;113;73	ENSP00000307939:V110L	ENSP00000307939:V110L	V	+	1	0	GCC2	108452545	0.396000	0.25262	0.943000	0.38184	0.124000	0.20399	0.487000	0.22356	0.741000	0.32674	0.460000	0.39030	GTA		0.328	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		12	69	1	0	0.00185496	0.001855	0.0020509	12	69				
TUBA3D	113457	broad.mit.edu	37	2	132237849	132237849	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:132237849C>A	ENST00000321253.6	+	4	690	c.583C>A	c.(583-585)Ctg>Atg	p.L195M	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	195					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L195M(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCACACGACCCTGGAACATTC	0.547																																					Ovarian(137;2059 2432 35543 39401)	Ovarian(137;2059 2432 35543 39401)	uc002tsu.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(583-585)CTG>ATG		tubulin, alpha 3d							88.0	106.0	100.0					2																	132237849		2203	4298	6501	SO:0001583	missense	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237849C>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.583C>A	2.37:g.132237849C>A	ENSP00000326042:p.Leu195Met						p.L195M	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	4	690	+			195					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	c.583C>A	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	c	9.737	1.163713	0.21538	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	T	0.70399	-0.48	2.24	2.24	0.28232	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.36972	U	0.002303	T	0.80529	0.4640	M	0.86028	2.79	0.43942	D	0.996608	B	0.29432	0.244	P	0.47645	0.553	T	0.82454	-0.0449	10	0.87932	D	0	.	10.1507	0.42791	0.0:1.0:0.0:0.0	.	195	Q13748	TBA3C_HUMAN	M	195	ENSP00000326042:L195M	ENSP00000326042:L195M	L	+	1	2	TUBA3D	131954319	1.000000	0.71417	0.999000	0.59377	0.431000	0.31685	3.093000	0.50217	1.243000	0.43853	0.194000	0.17425	CTG		0.547	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		18	242	1	0	3.33393e-15	0.004878	4.80209e-15	18	242				
NCKAP5	344148	broad.mit.edu	37	2	133541998	133541998	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:133541998G>C	ENST00000409261.1	-	14	2759	c.2386C>G	c.(2386-2388)Caa>Gaa	p.Q796E	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q796E	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	796								p.Q796E(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTTGCTTTTGATAGATGCCC	0.463																																							uc002ttp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2386-2388)CAA>GAA		Nck-associated protein 5 isoform 1							151.0	151.0	151.0					2																	133541998		1868	4114	5982	SO:0001583	missense	344148						protein binding	g.chr2:133541998G>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.2386C>G	2.37:g.133541998G>C	ENSP00000387128:p.Gln796Glu					NCKAP5_uc002ttq.2_Intron	p.Q796E	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	2760	-			796					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.2386C>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	g	8.538	0.872486	0.17322	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.38722	1.12;1.12	5.09	4.18	0.49190	.	0.689990	0.11763	U	0.531865	T	0.30293	0.0760	L	0.27053	0.805	0.24579	N	0.993881	P	0.38370	0.628	B	0.36922	0.236	T	0.05835	-1.0861	10	0.14656	T	0.56	.	12.9652	0.58480	0.0:0.0:0.8327:0.1673	.	796	O14513	NCKP5_HUMAN	E	796	ENSP00000387128:Q796E;ENSP00000380603:Q796E	ENSP00000380603:Q796E	Q	-	1	0	NCKAP5	133258468	0.971000	0.33674	0.034000	0.17996	0.448000	0.32197	3.212000	0.51145	1.312000	0.45043	0.651000	0.88453	CAA		0.463	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		52	241	0	0	0	0.00361	0	52	241				
THSD7B	80731	broad.mit.edu	37	2	138163266	138163266	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:138163266C>A	ENST00000409968.1	+	13	2762	c.2584C>A	c.(2584-2586)Caa>Aaa	p.Q862K	THSD7B_ENST00000413152.2_Missense_Mutation_p.Q831K|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.Q862K			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	862	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.Q862K(1)|p.Q831K(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCTCCTTGTGCAAGAATGCAC	0.502																																							uc002tva.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(2491-2493)CAA>AAA		thrombospondin, type I, domain containing 7B							73.0	75.0	75.0					2																	138163266		2018	4173	6191	SO:0001583	missense	80731							g.chr2:138163266C>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2584C>A	2.37:g.138163266C>A	ENSP00000387145:p.Gln862Lys					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.Q721K	p.Q831K	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	12	2491	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.2491C>A		.	.	.	.	.	.	.	.	.	.	C	28.5	4.927393	0.92389	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.61040	0.14;0.14;0.14	5.68	5.68	0.88126	.	0.053647	0.85682	D	0.000000	T	0.69584	0.3127	M	0.74647	2.275	0.80722	D	1	D;D	0.55172	0.97;0.97	P;P	0.52031	0.688;0.688	T	0.66654	-0.5869	10	0.28530	T	0.3	.	19.7905	0.96454	0.0:1.0:0.0:0.0	.	862;831	Q9C0I4;C9JKN6	THS7B_HUMAN;.	K	862;862;831	ENSP00000387145:Q862K;ENSP00000272643:Q862K;ENSP00000413841:Q831K	ENSP00000272643:Q862K	Q	+	1	0	THSD7B	137879736	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	5.640000	0.67875	2.680000	0.91292	0.655000	0.94253	CAA		0.502	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		11	47	1	0	3.07112e-06	0.010729	3.68065e-06	11	47				
SPOPL	339745	broad.mit.edu	37	2	139322555	139322555	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:139322555G>T	ENST00000280098.4	+	10	1405	c.1026G>T	c.(1024-1026)tgG>tgT	p.W342C		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	342					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)		p.W342C(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGAAAAACTGGAACAGCAAGT	0.343																																							uc002tvh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)	3						c.(1024-1026)TGG>TGT		speckle-type POZ protein-like							120.0	113.0	116.0					2																	139322555		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139322555G>T		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.1026G>T	2.37:g.139322555G>T	ENSP00000280098:p.Trp342Cys						p.W342C	NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	10	1426	+			342						Missense_Mutation	SNP	ENST00000280098.4	37	c.1026G>T	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280297	0.23392	.	.	ENSG00000144228	ENST00000280098	T	0.70164	-0.46	4.81	3.93	0.45458	.	0.219788	0.49916	D	0.000121	T	0.35451	0.0932	N	0.02011	-0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12889	-1.0530	9	.	.	.	-11.5511	10.0255	0.42068	0.0761:0.1377:0.7863:0.0	.	342	Q6IQ16	SPOPL_HUMAN	C	342	ENSP00000280098:W342C	.	W	+	3	0	SPOPL	139039025	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.267000	0.78462	1.156000	0.42514	-0.119000	0.15052	TGG		0.343	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			18	70	1	0	2.4624e-09	0.008871	3.20827e-09	18	70				
CYTIP	9595	broad.mit.edu	37	2	158272582	158272582	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:158272582C>A	ENST00000264192.3	-	8	808	c.687G>T	c.(685-687)ggG>ggT	p.G229G	CYTIP_ENST00000540637.1_Silent_p.G123G	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	229					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)		p.G229G(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTGGGCCTGGCCCAGGCAGGG	0.512																																							uc002tzj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(685-687)GGG>GGT		cytohesin 1 interacting protein							54.0	51.0	52.0					2																	158272582		2203	4300	6503	SO:0001819	synonymous_variant	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272582C>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.687G>T	2.37:g.158272582C>A						CYTIP_uc010zcl.1_Silent_p.G123G	p.G229G	NM_004288	NP_004279	O60759	CYTIP_HUMAN			8	759	-			229					B4DWH9|Q15630|Q8NE32	Silent	SNP	ENST00000264192.3	37	c.687G>T	CCDS2204.1																																																																																				0.512	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		21	68	1	0	1.96895e-08	0.00278	2.51321e-08	21	68				
DPP4	1803	broad.mit.edu	37	2	162902123	162902123	+	Splice_Site	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:162902123C>T	ENST00000360534.3	-	5	846		c.e5-1			NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4						cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CAAACTCATCCTGTCAAACAA	0.353																																							uc002ubz.2		NA																	1	Unknown(1)		lung(1)	ovary(3)	3						c.e5-1		dipeptidylpeptidase IV	Sitagliptin(DB01261)						66.0	68.0	68.0					2																	162902123		2203	4299	6502	SO:0001630	splice_region_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162902123C>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.286-1G>A	2.37:g.162902123C>T						DPP4_uc010fpb.2_Splice_Site|DPP4_uc002uca.1_Splice_Site|DPP4_uc002ucb.1_Splice_Site	p.D96_splice	NM_001935	NP_001926	P27487	DPP4_HUMAN			5	847	-								Q53TN1	Splice_Site	SNP	ENST00000360534.3	37	c.286_splice	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165403	0.57476	.	.	ENSG00000197635	ENST00000360534	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8049	0.63225	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPP4	162610369	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	3.998000	0.57024	2.330000	0.79161	0.462000	0.41574	.		0.353	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2		Intron	8	46	0	0	0	0.006214	0	8	46				
XIRP2	129446	broad.mit.edu	37	2	168100444	168100444	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:168100444C>A	ENST00000409195.1	+	9	2631	c.2542C>A	c.(2542-2544)Cag>Aag	p.Q848K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q626K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q848K|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	673					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.Q848K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTGAAACCCAGCCATTAGA	0.373																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(2542-2544)CAG>AAG		xin actin-binding repeat containing 2 isoform 1							104.0	102.0	103.0					2																	168100444		1834	4092	5926	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100444C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2542C>A	2.37:g.168100444C>A	ENSP00000386840:p.Gln848Lys					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q673K|XIRP2_uc010fpq.2_Missense_Mutation_p.Q626K|XIRP2_uc010fpr.2_Intron	p.Q848K	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2560	+			673			Xin 9.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2542C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627891	0.46944	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.41758	0.99;0.99;0.99	5.83	4.93	0.64822	.	0.290396	0.36303	N	0.002674	T	0.48021	0.1477	L	0.61387	1.9	0.40318	D	0.978794	P;B;B	0.49185	0.92;0.047;0.047	P;B;B	0.50860	0.652;0.032;0.032	T	0.51442	-0.8705	10	0.54805	T	0.06	-4.9275	8.192	0.31374	0.282:0.6451:0.0:0.0729	.	673;673;626	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	848;848;626	ENSP00000386840:Q848K;ENSP00000295237:Q848K;ENSP00000387255:Q626K	ENSP00000295237:Q848K	Q	+	1	0	XIRP2	167808690	0.990000	0.36364	0.985000	0.45067	0.995000	0.86356	2.896000	0.48656	1.404000	0.46819	0.655000	0.94253	CAG		0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		45	117	1	0	8.04919e-23	0.00361	1.30956e-22	45	117				
WDR12	55759	broad.mit.edu	37	2	203764280	203764280	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:203764280G>A	ENST00000261015.4	-	4	1061	c.312C>T	c.(310-312)atC>atT	p.I104I	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3			WD repeat domain 12									p.I104I(1)		endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TAATTGAACTGATCCAGTCAT	0.388																																							uc002uzl.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(310-312)ATC>ATT		WD repeat domain 12 protein							135.0	118.0	124.0					2																	203764280		2203	4300	6503	SO:0001819	synonymous_variant	55759				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr2:203764280G>A	AF242546	CCDS2356.1	2q33.1	2013-01-09			ENSG00000138442	ENSG00000138442		"""WD repeat domain containing"""	14098	protein-coding gene	gene with protein product						16043514, 17353269	Standard	NM_018256		Approved	YTM1, FLJ10881	uc002uzl.3	Q9GZL7	OTTHUMG00000132855	ENST00000261015.4:c.312C>T	2.37:g.203764280G>A						WDR12_uc010ftt.2_Silent_p.I104I	p.I104I	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN			4	1062	-			104			Sufficient for nucleolar localization.|WD 1.			Silent	SNP	ENST00000261015.4	37	c.312C>T	CCDS2356.1																																																																																				0.388	WDR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256329.4	NM_018256		6	129	0	0	0	0.001168	0	6	129				
SLC19A3	80704	broad.mit.edu	37	2	228564115	228564115	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:228564115T>C	ENST00000258403.3	-	3	387	c.316A>G	c.(316-318)Atg>Gtg	p.M106V	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.M102V	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	106					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.M106V(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ACAACCTGCATGGTCTTCACT	0.527																																							uc002vpi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(316-318)ATG>GTG		solute carrier family 19, member 3	L-Cysteine(DB00151)						122.0	121.0	122.0					2																	228564115		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228564115T>C	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.316A>G	2.37:g.228564115T>C	ENSP00000258403:p.Met106Val					SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.M102V	p.M106V	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	405	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	106			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000258403.3	37	c.316A>G	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.758319	0.89843	.	.	ENSG00000135917	ENST00000258403;ENST00000541617;ENST00000456524	T;T;T	0.80480	-1.38;-1.38;0.37	5.91	5.91	0.95273	Major facilitator superfamily domain, general substrate transporter (1);	0.068694	0.85682	D	0.000000	D	0.89546	0.6746	M	0.92555	3.32	0.80722	D	1	P;P	0.46395	0.743;0.877	P;P	0.51742	0.547;0.678	D	0.90947	0.4802	10	0.49607	T	0.09	-50.9321	16.3351	0.83056	0.0:0.0:0.0:1.0	.	102;106	F5H2M8;Q9BZV2	.;S19A3_HUMAN	V	106;102;106	ENSP00000258403:M106V;ENSP00000445519:M102V;ENSP00000399001:M106V	ENSP00000258403:M106V	M	-	1	0	SLC19A3	228272359	1.000000	0.71417	0.975000	0.42487	0.948000	0.59901	7.882000	0.87258	2.262000	0.75019	0.528000	0.53228	ATG		0.527	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			5	223	0	0	0	0.004482	0	5	223				
SPHKAP	80309	broad.mit.edu	37	2	228882302	228882302	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr2:228882302C>A	ENST00000392056.3	-	7	3314	c.3268G>T	c.(3268-3270)Gac>Tac	p.D1090Y	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1090Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1090						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.D1090Y(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCCTCGGAGTCTTCCTCAGGA	0.627																																							uc002vpq.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(3268-3270)GAC>TAC		sphingosine kinase type 1-interacting protein							36.0	37.0	37.0					2																	228882302		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228882302C>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3268G>T	2.37:g.228882302C>A	ENSP00000375909:p.Asp1090Tyr					SPHKAP_uc002vpp.2_Missense_Mutation_p.D1090Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.D1090Y	p.D1090Y	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3315	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1090					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3268G>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208700	0.58343	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.19669	2.15;2.13	6.08	5.18	0.71444	.	0.185682	0.56097	D	0.000032	T	0.35856	0.0946	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.95;0.999	T	0.19712	-1.0297	10	0.87932	D	0	.	15.6566	0.77140	0.1381:0.8619:0.0:0.0	.	121;1090;1090	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	Y	1090	ENSP00000375909:D1090Y;ENSP00000339886:D1090Y	ENSP00000339886:D1090Y	D	-	1	0	SPHKAP	228590546	1.000000	0.71417	0.995000	0.50966	0.500000	0.33767	3.533000	0.53561	1.542000	0.49330	0.655000	0.94253	GAC		0.627	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		10	37	1	0	3.86212e-05	0.008291	4.4915e-05	10	37				
TMEM74B	55321	broad.mit.edu	37	20	1162053	1162053	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:1162053C>T	ENST00000381894.3	-	2	881	c.210G>A	c.(208-210)gaG>gaA	p.E70E	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	70						integral component of membrane (GO:0016021)		p.E70E(1)									GGAAATGGGTCTCATGCTCCT	0.637																																							uc010gaa.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(208-210)GAG>GAA		hypothetical protein LOC55321							39.0	43.0	41.0					20																	1162053		2203	4300	6503	SO:0001819	synonymous_variant	55321					integral to membrane	protein binding	g.chr20:1162053C>T	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.210G>A	20.37:g.1162053C>T						C20orf46_uc002weq.1_Silent_p.E70E	p.E70E	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN			3	429	-			70					D3DVW5	Silent	SNP	ENST00000381894.3	37	c.210G>A	CCDS13011.1																																																																																				0.637	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		9	67	0	0	0	0.004482	0	9	67				
CHGB	1114	broad.mit.edu	37	20	5903619	5903619	+	Nonsense_Mutation	SNP	C	C	T	rs553869356		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:5903619C>T	ENST00000378961.4	+	4	1033	c.829C>T	c.(829-831)Cga>Tga	p.R277*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	277						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.R277*(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGTGGACAAACGACGCACGAG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18067	0.0		0.0	False		,,,				2504	0.001						uc002wmg.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(829-831)CGA>TGA		chromogranin B precursor							38.0	40.0	40.0					20																	5903619		2202	4300	6502	SO:0001587	stop_gained	1114					extracellular region	hormone activity	g.chr20:5903619C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.829C>T	20.37:g.5903619C>T	ENSP00000368244:p.Arg277*					CHGB_uc010zqz.1_Translation_Start_Site	p.R277*	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	1135	+			277					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Nonsense_Mutation	SNP	ENST00000378961.4	37	c.829C>T	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	C	34	5.334779	0.95758	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	.	.	.	5.45	5.45	0.79879	.	0.273852	0.28796	N	0.014108	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.0173	12.9475	0.58382	0.2688:0.7312:0.0:0.0	.	.	.	.	X	277;257	.	ENSP00000368244:R277X	R	+	1	2	CHGB	5851619	1.000000	0.71417	0.958000	0.39756	0.601000	0.36947	1.152000	0.31663	2.547000	0.85894	0.563000	0.77884	CGA		0.607	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		3	22	0	0	0	0.004672	0	3	22				
PROCR	10544	broad.mit.edu	37	20	33764159	33764159	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:33764159T>C	ENST00000216968.4	+	3	593	c.511T>C	c.(511-513)Tac>Cac	p.Y171H	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	171					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.Y171H(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GCTCAATGCCTACAACCGCAC	0.557																																							uc002xbt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(511-513)TAC>CAC		endothelial protein C receptor precursor	Drotrecogin alfa(DB00055)						119.0	105.0	110.0					20																	33764159		2203	4300	6503	SO:0001583	missense	10544				antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity	g.chr20:33764159T>C	L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.511T>C	20.37:g.33764159T>C	ENSP00000216968:p.Tyr171His					EDEM2_uc010zuv.1_Intron|PROCR_uc010zuw.1_Missense_Mutation_p.Y208H	p.Y171H	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0152)		3	695	+			171			Extracellular (Potential).		B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	ENST00000216968.4	37	c.511T>C	CCDS13248.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938749	0.73557	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	T	0.00691	5.84	5.62	5.62	0.85841	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.100875	0.44483	D	0.000446	T	0.04182	0.0116	M	0.80028	2.48	0.40523	D	0.980855	D	0.89917	1.0	D	0.87578	0.998	T	0.50882	-0.8775	10	0.33940	T	0.23	-7.0477	12.2244	0.54451	0.0:0.0:0.0:1.0	.	171	Q9UNN8	EPCR_HUMAN	H	171	ENSP00000216968:Y171H	ENSP00000216968:Y171H	Y	+	1	0	PROCR	33227820	0.725000	0.28048	0.991000	0.47740	0.759000	0.43091	0.381000	0.20619	2.146000	0.66826	0.460000	0.39030	TAC		0.557	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078843.3			3	174	0	0	0	0.004672	0	3	174				
DSN1	79980	broad.mit.edu	37	20	35386512	35386512	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:35386512C>A	ENST00000426836.1	-	8	1075	c.703G>T	c.(703-705)Gag>Tag	p.E235*	DSN1_ENST00000373734.4_Nonsense_Mutation_p.E128*|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000448110.2_Nonsense_Mutation_p.E219*|DSN1_ENST00000373750.4_Nonsense_Mutation_p.E235*|DSN1_ENST00000373745.3_Nonsense_Mutation_p.E235*|DSN1_ENST00000373740.3_Nonsense_Mutation_p.E163*	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	235					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)		p.E235*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TCTTTAGCCTCCTGCTGGTAG	0.338																																							uc010gfr.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(703-705)GAG>TAG		DSN1, MIND kinetochore complex component,							45.0	44.0	44.0					20																	35386512		2203	4300	6503	SO:0001587	stop_gained	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35386512C>A	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.703G>T	20.37:g.35386512C>A	ENSP00000389810:p.Glu235*					DSN1_uc002xfz.2_Nonsense_Mutation_p.E235*|DSN1_uc002xfy.3_Nonsense_Mutation_p.E25*|DSN1_uc002xga.2_Nonsense_Mutation_p.E235*|DSN1_uc010zvs.1_Nonsense_Mutation_p.E128*|DSN1_uc002xgc.2_Nonsense_Mutation_p.E219*|DSN1_uc002xgb.2_Nonsense_Mutation_p.E219*	p.E235*	NM_001145316	NP_001138788	Q9H410	DSN1_HUMAN			8	1076	-		Myeloproliferative disorder(115;0.00874)	235					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Nonsense_Mutation	SNP	ENST00000426836.1	37	c.703G>T	CCDS13286.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686716	0.88639	.	.	ENSG00000149636	ENST00000426836;ENST00000373745;ENST00000448110;ENST00000373733;ENST00000373750;ENST00000373740;ENST00000373734;ENST00000449595;ENST00000447406;ENST00000438549	.	.	.	5.14	4.17	0.49024	.	0.457703	0.22481	N	0.059495	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-3.2967	9.6847	0.40091	0.0:0.9043:0.0:0.0957	.	.	.	.	X	235;235;219;168;235;163;128;219;235;135	.	ENSP00000362838:E168X	E	-	1	0	DSN1	34819926	0.009000	0.17119	1.000000	0.80357	0.513000	0.34164	0.603000	0.24149	2.666000	0.90696	0.655000	0.94253	GAG		0.338	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		9	36	1	0	3.86212e-05	0.008291	4.4915e-05	9	36				
PTPRT	11122	broad.mit.edu	37	20	41385102	41385102	+	Splice_Site	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:41385102C>T	ENST00000373187.1	-	6	858	c.859G>A	c.(859-861)Gag>Aag	p.E287K	PTPRT_ENST00000373201.1_Splice_Site_p.E287K|PTPRT_ENST00000373198.4_Splice_Site_p.E287K|PTPRT_ENST00000356100.2_Splice_Site_p.E287K|PTPRT_ENST00000373190.1_Splice_Site_p.E287K|PTPRT_ENST00000373184.1_Splice_Site_p.E287K|PTPRT_ENST00000373193.3_Splice_Site_p.E287K			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	287					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.E287K(1)|p.E287*(1)|p.?(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGCACTCACCTTTCACGATC	0.567																																							uc002xkg.2		NA																	3	Substitution - Nonsense(1)|Unknown(1)|Substitution - Missense(1)		lung(3)	skin(8)|ovary(7)|lung(5)	20						c.(859-861)GAG>AAG		protein tyrosine phosphatase, receptor type, T							50.0	50.0	50.0					20																	41385102		2139	4241	6380	SO:0001630	splice_region_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41385102C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.859+1G>A	20.37:g.41385102C>T						PTPRT_uc010ggj.2_Missense_Mutation_p.E287K	p.E287K	NM_007050	NP_008981	O14522	PTPRT_HUMAN			6	1043	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	287			Extracellular (Potential).		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.859G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933716	0.73442	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.75	5.75	0.90469	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.131818	0.51477	D	0.000093	T	0.52549	0.1741	L	0.54323	1.7	0.58432	D	0.999999	P;B	0.37083	0.581;0.311	B;B	0.37304	0.246;0.125	T	0.47935	-0.9078	9	.	.	.	.	19.5368	0.95256	0.0:1.0:0.0:0.0	.	287;287	O14522-1;O14522	.;PTPRT_HUMAN	K	287	ENSP00000362286:E287K;ENSP00000362283:E287K;ENSP00000362289:E287K;ENSP00000348408:E287K;ENSP00000362294:E287K;ENSP00000362280:E287K;ENSP00000362297:E287K	.	E	-	1	0	PTPRT	40818516	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	7.487000	0.81328	2.720000	0.93068	0.655000	0.94253	GAG		0.567	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		Missense_Mutation	16	24	0	0	0	0.004007	0	16	24				
BCAS1	8537	broad.mit.edu	37	20	52570044	52570044	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:52570044A>T	ENST00000395961.3	-	11	1773	c.1607T>A	c.(1606-1608)cTg>cAg	p.L536Q	BCAS1_ENST00000371440.3_Missense_Mutation_p.L545Q|BCAS1_ENST00000371435.2_Missense_Mutation_p.L458Q|BCAS1_ENST00000434986.2_Missense_Mutation_p.L202Q	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	536						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.L536Q(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCCATTCTGCAGTGAGTTCGT	0.527																																							uc002xws.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1606-1608)CTG>CAG		breast carcinoma amplified sequence 1							199.0	161.0	174.0					20																	52570044		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52570044A>T	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1607T>A	20.37:g.52570044A>T	ENSP00000379290:p.Leu536Gln					BCAS1_uc010zza.1_Missense_Mutation_p.L202Q|BCAS1_uc010zzb.1_Missense_Mutation_p.L462Q|BCAS1_uc010gim.2_Missense_Mutation_p.L392Q|BCAS1_uc002xwt.2_Missense_Mutation_p.L522Q|BCAS1_uc010gil.1_Missense_Mutation_p.L458Q	p.L536Q	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		11	1945	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		536					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1607T>A	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.78|14.78	2.638496|2.638496	0.47153|0.47153	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000422805|ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	.|T;T;T;T;T	.|0.39229	.|1.83;2.09;2.1;2.03;1.09	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.485335	.|0.19404	.|N	.|0.115117	T|T	0.58090|0.58090	0.2098|0.2098	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.76494	.|0.99;0.995;0.99;0.999;0.999;0.999	.|D;P;D;D;D;D	.|0.74674	.|0.925;0.898;0.925;0.974;0.984;0.984	T|T	0.54774|0.54774	-0.8243|-0.8243	5|10	.|0.35671	.|T	.|0.21	-6.4903|-6.4903	12.4028|12.4028	0.55422|0.55422	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|536;202;545;458;536;536	.|B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.|.;.;.;.;.;BCAS1_HUMAN	S|Q	199|407;545;336;536;458;202	.|ENSP00000396361:L407Q;ENSP00000360495:L545Q;ENSP00000379290:L536Q;ENSP00000360490:L458Q;ENSP00000409956:L202Q	.|ENSP00000360490:L458Q	C|L	-|-	1|2	0|0	BCAS1|BCAS1	52003451|52003451	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.142000|0.142000	0.21351|0.21351	4.036000|4.036000	0.57304|0.57304	1.861000|1.861000	0.53984|0.53984	0.454000|0.454000	0.30748|0.30748	TGC|CTG		0.527	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		50	134	0	0	0	0.00361	0	50	134				
BMP7	655	broad.mit.edu	37	20	55803316	55803316	+	Missense_Mutation	SNP	C	C	A	rs199551942	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:55803316C>A	ENST00000395863.3	-	2	1085	c.580G>T	c.(580-582)Gtt>Ttt	p.V194F	BMP7_ENST00000450594.2_Missense_Mutation_p.V194F|BMP7_ENST00000395864.3_Missense_Mutation_p.V194F	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	194					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)	p.V194F(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			ACCTGATAAACGCTGATCCGG	0.562																																							uc010gip.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(580-582)GTT>TTT		bone morphogenetic protein 7 precursor							127.0	128.0	128.0					20																	55803316		2203	4300	6503	SO:0001583	missense	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55803316C>A		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.580G>T	20.37:g.55803316C>A	ENSP00000379204:p.Val194Phe					BMP7_uc010giq.1_Missense_Mutation_p.V194F|BMP7_uc002xyc.2_Missense_Mutation_p.V194F	p.V194F	NM_001719	NP_001710	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		2	1109	-	all_lung(29;0.0133)|Melanoma(10;0.242)		194					Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.580G>T	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.156707|4.156707	0.78114|0.78114	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000433911|ENST00000395863;ENST00000395864;ENST00000450594	.|T;T;T	.|0.73258	.|-0.73;-0.73;-0.73	5.63|5.63	4.69|4.69	0.59074|0.59074	.|Transforming growth factor-beta, N-terminal (1);	.|0.167486	.|0.53938	.|D	.|0.000055	D|D	0.85230|0.85230	0.5649|0.5649	M|M	0.86651|0.86651	2.83|2.83	0.53005|0.53005	D|D	0.99996|0.99996	.|D;D;D	.|0.65815	.|0.99;0.995;0.992	.|P;D;D	.|0.70935	.|0.762;0.971;0.952	D|D	0.87991|0.87991	0.2749|0.2749	5|10	.|0.87932	.|D	.|0	.|.	14.4475|14.4475	0.67361|0.67361	0.0:0.9296:0.0:0.0704|0.0:0.9296:0.0:0.0704	.|.	.|194;194;194	.|B1AKZ9;P18075;B1AL00	.|.;BMP7_HUMAN;.	L|F	79|194	.|ENSP00000379204:V194F;ENSP00000379205:V194F;ENSP00000398687:V194F	.|ENSP00000379204:V194F	R|V	-|-	2|1	0|0	BMP7|BMP7	55236723|55236723	0.959000|0.959000	0.32827|0.32827	0.819000|0.819000	0.32651|0.32651	0.968000|0.968000	0.65278|0.65278	1.605000|1.605000	0.36815|0.36815	1.380000|1.380000	0.46344|0.46344	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.562	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			63	198	1	0	1.17004e-41	0.00361	2.07567e-41	63	198				
KCNQ2	3785	broad.mit.edu	37	20	62076647	62076647	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:62076647C>A	ENST00000359125.2	-	3	632	c.458G>T	c.(457-459)cGg>cTg	p.R153L	KCNQ2_ENST00000357249.2_Missense_Mutation_p.R153L|KCNQ2_ENST00000344462.4_Missense_Mutation_p.R153L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.R153L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.R153L|KCNQ2_ENST00000354587.3_Missense_Mutation_p.R153L|RP11-358D14.2_ENST00000436263.1_RNA|KCNQ2_ENST00000344425.5_Missense_Mutation_p.R153L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.R153L	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	153					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R153L(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCCACGGTACCGGCAGCAGCA	0.612																																							uc002yey.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(457-459)CGG>CTG		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						68.0	67.0	68.0					20																	62076647		2203	4300	6503	SO:0001583	missense	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62076647C>A	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.458G>T	20.37:g.62076647C>A	ENSP00000352035:p.Arg153Leu					KCNQ2_uc002yez.1_Missense_Mutation_p.R153L|KCNQ2_uc002yfa.1_Missense_Mutation_p.R153L|KCNQ2_uc002yfb.1_Missense_Mutation_p.R153L|KCNQ2_uc011aax.1_Missense_Mutation_p.R153L|KCNQ2_uc002yfc.1_Missense_Mutation_p.R153L	p.R153L	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		3	635	-	all_cancers(38;1.24e-11)		153			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	ENST00000359125.2	37	c.458G>T	CCDS13520.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688382	0.68271	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222;ENST00000370221;ENST00000344425	D;D;D;D;D;D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	3.82	3.82	0.43975	Ion transport (1);	0.000000	0.64402	D	0.000009	D	0.93064	0.7792	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.983;0.999;0.999;0.999;0.999	D	0.94307	0.7542	10	0.87932	D	0	-21.867	16.0635	0.80856	0.0:1.0:0.0:0.0	.	153;153;153;153;153;153	B4DEP4;Q53Y30;O43526-3;O43526-2;O43526-4;O43526	.;.;.;.;.;KCNQ2_HUMAN	L	153	ENSP00000349789:R153L;ENSP00000352035:R153L;ENSP00000359246:R153L;ENSP00000346601:R153L;ENSP00000352718:R153L;ENSP00000399612:R153L;ENSP00000353668:R153L;ENSP00000339611:R153L;ENSP00000359244:R153L;ENSP00000359242:R153L;ENSP00000359241:R153L;ENSP00000345523:R153L	ENSP00000345523:R153L	R	-	2	0	KCNQ2	61547091	1.000000	0.71417	0.999000	0.59377	0.182000	0.23217	7.615000	0.83006	1.851000	0.53745	0.313000	0.20887	CGG		0.612	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		8	16	1	0	6.31663e-08	0.003163	7.87072e-08	8	16				
DIP2A	23181	broad.mit.edu	37	21	47904726	47904726	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr21:47904726A>C	ENST00000417564.2	+	2	169	c.148A>C	c.(148-150)Ata>Cta	p.I50L	DIP2A_ENST00000435722.3_Missense_Mutation_p.I50L|DIP2A_ENST00000400274.1_Missense_Mutation_p.I50L|DIP2A_ENST00000457905.3_Missense_Mutation_p.I50L|DIP2A_ENST00000427143.2_Intron|DIP2A_ENST00000466639.1_Missense_Mutation_p.I50L|DIP2A_ENST00000318711.7_Missense_Mutation_p.I50L			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	50	DMAP-interaction.				multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.I50L(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGCACGTTATATACCGCTTAT	0.308																																							uc002zjo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(148-150)ATA>CTA		disco-interacting protein 2A isoform a							74.0	69.0	71.0					21																	47904726		1924	4158	6082	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47904726A>C	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.148A>C	21.37:g.47904726A>C	ENSP00000392066:p.Ile50Leu					DIP2A_uc011afy.1_Intron|DIP2A_uc011afz.1_Missense_Mutation_p.I50L|DIP2A_uc002zjl.2_Missense_Mutation_p.I50L|DIP2A_uc002zjm.2_Missense_Mutation_p.I50L|DIP2A_uc010gql.2_Missense_Mutation_p.I50L|DIP2A_uc002zjn.2_Missense_Mutation_p.I50L	p.I50L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	2	331	+	Breast(49;0.0933)		50					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.148A>C	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	A	7.336	0.619927	0.14193	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	5.95	-0.748	0.11087	DMAP1-binding (1);	0.341686	0.29321	N	0.012486	T	0.13372	0.0324	N	0.12569	0.235	0.23889	N	0.996558	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.12156	0.007;0.001;0.003;0.003;0.003	T	0.32587	-0.9901	10	0.02654	T	1	-3.7088	6.0991	0.20037	0.595:0.1249:0.2801:0.0	.	50;50;50;50;50	E9PER1;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;DIP2A_HUMAN;.;.	L	50	ENSP00000383133:I50L;ENSP00000323633:I50L;ENSP00000393434:I50L;ENSP00000430249:I50L;ENSP00000415089:I50L;ENSP00000392066:I50L	ENSP00000323633:I50L	I	+	1	0	DIP2A	46729154	0.510000	0.26171	0.001000	0.08648	0.978000	0.69477	2.005000	0.40864	-0.345000	0.08325	0.533000	0.62120	ATA		0.308	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		3	8	0	0	0	0.009096	0	3	8				
RFPL2	10739	broad.mit.edu	37	22	32587072	32587072	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr22:32587072C>A	ENST00000400237.1	-	5	1759	c.824G>T	c.(823-825)gGa>gTa	p.G275V	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Missense_Mutation_p.G185V|RFPL2_ENST00000248980.4_Missense_Mutation_p.G214V|RFPL2_ENST00000248983.4_Missense_Mutation_p.G185V			O75678	RFPL2_HUMAN	ret finger protein-like 2	275	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.G185V(1)|p.G214V(1)|p.G275V(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						AGTCCAGAATCCAAGCTCTGT	0.572																																							uc003amg.3		NA																	3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(823-825)GGA>GTA		ret finger protein-like 2 isoform 2							94.0	97.0	96.0					22																	32587072		2203	4300	6503	SO:0001583	missense	10739						zinc ion binding	g.chr22:32587072C>A	AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.824G>T	22.37:g.32587072C>A	ENSP00000383096:p.Gly275Val					RFPL2_uc003ame.3_Missense_Mutation_p.G214V|RFPL2_uc003amf.3_Missense_Mutation_p.G185V|RFPL2_uc003amh.3_Missense_Mutation_p.G185V	p.G275V	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN			5	1760	-			275			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000400237.1	37	c.824G>T	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	14.53	2.563793	0.45694	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	0.311	0.311	0.15831	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.82568	0.5065	M	0.88450	2.955	0.48696	D	0.999696	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80650	-0.1288	9	0.87932	D	0	.	6.4489	0.21892	0.0:0.9998:0.0:2.0E-4	.	275;214	O75678;O75678-3	RFPL2_HUMAN;.	V	214;185;185;275	ENSP00000248980:G214V;ENSP00000248983:G185V;ENSP00000383095:G185V;ENSP00000383096:G275V	ENSP00000248980:G214V	G	-	2	0	RFPL2	30917072	0.976000	0.34144	0.159000	0.22649	0.160000	0.22226	4.925000	0.63425	0.392000	0.25172	0.398000	0.26397	GGA		0.572	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2	NM_006605		21	75	1	0	8.24728e-16	0.004656	1.2158e-15	21	75				
TEX33	339669	broad.mit.edu	37	22	37387601	37387601	+	Missense_Mutation	SNP	C	C	A	rs370059401		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr22:37387601C>A	ENST00000405091.2	-	6	917	c.666G>T	c.(664-666)aaG>aaT	p.K222N	TEX33_ENST00000381821.1_Missense_Mutation_p.K222N|TEX33_ENST00000402860.3_Missense_Mutation_p.K137N			O43247	TEX33_HUMAN	testis expressed 33	222								p.K137N(1)									TGTAAGAAGCCTTCATGAGGC	0.507																																							uc003aqf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(664-666)AAG>AAT		hypothetical protein LOC339669 isoform 1							172.0	151.0	158.0					22																	37387601		2203	4300	6503	SO:0001583	missense	339669							g.chr22:37387601C>A	BC042635	CCDS13937.1, CCDS54524.1	22q12.3	2013-10-11	2012-02-16	2012-02-16	ENSG00000185264	ENSG00000185264			28568	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 33"""	C22orf33		22332119	Standard	NM_178552		Approved	MGC35206, EAN57	uc003aqf.3	O43247	OTTHUMG00000150531	ENST00000405091.2:c.666G>T	22.37:g.37387601C>A	ENSP00000386118:p.Lys222Asn					C22orf33_uc003aqe.2_Missense_Mutation_p.K137N	p.K222N	NM_001163857	NP_001157329	O43247	EAN57_HUMAN			5	812	-			222					B1AH46|Q6ICF2|Q8IVQ2|Q9Y4V8	Missense_Mutation	SNP	ENST00000405091.2	37	c.666G>T	CCDS54524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.06|15.06	2.721783|2.721783	0.48728|0.48728	.|.	.|.	ENSG00000185264|ENSG00000185264	ENST00000442538|ENST00000402860;ENST00000405091;ENST00000381821	.|.	.|.	.|.	5.11|5.11	3.03|3.03	0.35002|0.35002	.|.	.|0.105137	.|0.41294	.|D	.|0.000920	T|T	0.55955|0.55955	0.1953|0.1953	L|L	0.29908|0.29908	0.895|0.895	0.39804|0.39804	D|D	0.972617|0.972617	.|D	.|0.76494	.|0.999	.|D	.|0.76575	.|0.988	T|T	0.56414|0.56414	-0.7983|-0.7983	5|9	.|0.54805	.|T	.|0.06	-33.411|-33.411	7.9665|7.9665	0.30102|0.30102	0.0:0.8104:0.0:0.1896|0.0:0.8104:0.0:0.1896	.|.	.|222	.|O43247	.|EAN57_HUMAN	C|N	81|137;222;222	.|.	.|ENSP00000371243:K222N	G|K	-|-	1|3	0|2	C22orf33|C22orf33	35717547|35717547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.574000|0.574000	0.36063|0.36063	1.262000|1.262000	0.32992|0.32992	0.665000|0.665000	0.31066|0.31066	-0.253000|-0.253000	0.11424|0.11424	GGC|AAG		0.507	TEX33-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318778.2	NM_178552		27	178	1	0	4.31634e-10	0.012213	5.76736e-10	27	178				
NCAPH2	29781	broad.mit.edu	37	22	50960275	50960275	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr22:50960275C>T	ENST00000420993.2	+	12	1228	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V	NCAPH2_ENST00000395701.3_Missense_Mutation_p.A369V|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000299821.11_Missense_Mutation_p.A369V|CTA-384D8.36_ENST00000608319.1_RNA	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	369					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.A369V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TACCTGGCTGCCTGTGAGTGG	0.642																																							uc003blr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1105-1107)GCC>GTC		kleisin beta isoform 2							55.0	46.0	49.0					22																	50960275		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50960275C>T	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1106C>T	22.37:g.50960275C>T	ENSP00000410088:p.Ala369Val					NCAPH2_uc003blv.2_Missense_Mutation_p.A369V|NCAPH2_uc010hbb.2_Missense_Mutation_p.A220V|NCAPH2_uc003blu.3_RNA|NCAPH2_uc003bls.3_RNA|NCAPH2_uc003blt.3_RNA|NCAPH2_uc003blw.3_RNA|NCAPH2_uc003blx.3_Missense_Mutation_p.A369V|NCAPH2_uc003bly.3_RNA	p.A369V	NM_152299	NP_689512	Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	12	1228	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	369					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.1106C>T	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093104	0.56075	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	4.83	2.66	0.31614	.	0.485814	0.22635	N	0.057521	T	0.47911	0.1471	L	0.42245	1.32	0.37429	D	0.913939	P;P;P;P	0.45715	0.767;0.837;0.649;0.865	B;P;B;P	0.49421	0.359;0.475;0.359;0.61	T	0.43410	-0.9393	9	0.19590	T	0.45	-0.3812	8.1569	0.31173	0.1571:0.7578:0.0:0.085	.	369;369;347;369	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;.;CNDH2_HUMAN	V	369	.	ENSP00000299821:A369V	A	+	2	0	NCAPH2	49307141	0.066000	0.20996	0.166000	0.22797	0.520000	0.34377	1.637000	0.37155	0.423000	0.26033	0.591000	0.81541	GCC		0.642	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		12	50	0	0	0	0.010729	0	12	50				
CNTN4	152330	broad.mit.edu	37	3	3078942	3078942	+	Silent	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:3078942A>T	ENST00000397461.1	+	17	2406	c.2022A>T	c.(2020-2022)acA>acT	p.T674T	CNTN4_ENST00000427331.1_Silent_p.T674T|CNTN4_ENST00000418658.1_Silent_p.T674T|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000358480.3_Silent_p.T455T|CNTN4_ENST00000448906.2_Silent_p.T346T|CNTN4_ENST00000397459.2_Silent_p.T346T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	674	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.T346T(1)|p.T674T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AATTCCGCACAGTTGCAGCCA	0.517																																							uc003bpc.2		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(2020-2022)ACA>ACT		contactin 4 isoform a precursor							181.0	187.0	185.0					3																	3078942		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3078942A>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2022A>T	3.37:g.3078942A>T						CNTN4_uc003bpb.1_Silent_p.T345T|CNTN4_uc003bpd.1_Silent_p.T674T|CNTN4_uc003bpe.2_Silent_p.T346T|CNTN4_uc003bpf.2_Silent_p.T345T|CNTN4_uc003bpg.2_5'Flank	p.T674T	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	17	2243	+		Ovarian(110;0.156)	674			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.2022A>T	CCDS43041.1																																																																																				0.517	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			140	260	0	0	0	0.00361	0	140	260				
POU1F1	5449	broad.mit.edu	37	3	87309058	87309058	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:87309058G>T	ENST00000350375.2	-	6	986	c.862C>A	c.(862-864)Ctt>Att	p.L288I	POU1F1_ENST00000560656.1_3'UTR|POU1F1_ENST00000344265.3_Missense_Mutation_p.L314I	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	288					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L314I(1)|p.L288I(1)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		CTGCACTCAAGATGTTCCTTA	0.348																																							uc003dqq.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(862-864)CTT>ATT		pituitary specific transcription factor 1							73.0	78.0	77.0					3																	87309058		2200	4299	6499	SO:0001583	missense	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87309058G>T	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.862C>A	3.37:g.87309058G>T	ENSP00000263781:p.Leu288Ile					POU1F1_uc010hoj.1_Missense_Mutation_p.L314I	p.L288I	NM_000306	NP_000297	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	6	987	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	288					O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	c.862C>A	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703897	0.68501	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.88664	-2.41;-2.4	6.05	6.05	0.98169	.	0.353731	0.28977	N	0.013535	T	0.77485	0.4137	N	0.02011	-0.69	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.13407	0.009;0.001	T	0.70249	-0.4924	10	0.33940	T	0.23	.	20.6013	0.99457	0.0:0.0:1.0:0.0	.	314;288	P28069-2;P28069	.;PIT1_HUMAN	I	288;314	ENSP00000263781:L288I;ENSP00000342931:L314I	ENSP00000342931:L314I	L	-	1	0	POU1F1	87391748	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.059000	0.64306	2.878000	0.98634	0.650000	0.86243	CTT		0.348	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		25	76	1	0	9.90768e-06	0.004656	1.17841e-05	25	76				
EPHA6	285220	broad.mit.edu	37	3	97454809	97454809	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:97454809C>T	ENST00000389672.5	+	16	3013	c.2975C>T	c.(2974-2976)cCc>cTc	p.P992L		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	898	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.P898L(1)|p.P992L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTTCCAGCTCCCATGGGCTGT	0.423																																							uc010how.1		NA																	2	Substitution - Missense(2)		lung(2)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2974-2976)CCC>CTC		EPH receptor A6 isoform a							81.0	82.0	82.0					3																	97454809		1957	4170	6127	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97454809C>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.2975C>T	3.37:g.97454809C>T	ENSP00000374323:p.Pro992Leu					EPHA6_uc003drt.2_Missense_Mutation_p.P384L|EPHA6_uc010hox.1_RNA	p.P992L	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			16	3018	+			897			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.2975C>T	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058521	0.93846	.	.	ENSG00000080224	ENST00000389672	D	0.86366	-2.11	5.7	5.7	0.88788	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.94883	0.8346	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95193	0.8310	9	0.87932	D	0	.	19.8206	0.96591	0.0:1.0:0.0:0.0	.	897	Q9UF33	EPHA6_HUMAN	L	992	ENSP00000374323:P992L	ENSP00000374323:P992L	P	+	2	0	EPHA6	98937499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.689000	0.91719	0.561000	0.74099	CCC		0.423	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		30	44	0	0	0	0.003271	0	30	44				
MAATS1	89876	broad.mit.edu	37	3	119445030	119445030	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:119445030C>T	ENST00000273390.5	+	7	772	c.695C>T	c.(694-696)cCa>cTa	p.P232L		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	232						mitochondrion (GO:0005739)		p.P232L(1)									CGGGGTCTCCCAGCAGGACAA	0.547																																							uc003ede.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(694-696)CCA>CTA		AAT1-alpha							42.0	43.0	42.0					3																	119445030		2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119445030C>T	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.695C>T	3.37:g.119445030C>T	ENSP00000273390:p.Pro232Leu					C3orf15_uc010hqy.1_Missense_Mutation_p.P232L|C3orf15_uc010hqz.2_Missense_Mutation_p.P170L|C3orf15_uc011bjd.1_Missense_Mutation_p.P106L|C3orf15_uc011bje.1_Missense_Mutation_p.P212L|C3orf15_uc010hra.1_5'UTR	p.P232L	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	7	772	+			232					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.695C>T	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362781	0.95877	.	.	ENSG00000183833	ENST00000273390	T	0.56611	0.45	5.62	5.62	0.85841	.	0.053413	0.85682	D	0.000000	T	0.78188	0.4244	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.993;0.992;0.999;1.0	T	0.80953	-0.1152	10	0.87932	D	0	-3.8044	20.0377	0.97569	0.0:1.0:0.0:0.0	.	232;170;232;232	Q7Z4T9;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	AAT1_HUMAN;.;.;.	L	232	ENSP00000273390:P232L	ENSP00000273390:P232L	P	+	2	0	C3orf15	120927720	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	7.221000	0.78016	2.822000	0.97130	0.650000	0.86243	CCA		0.547	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		20	20	0	0	0	0.00278	0	20	20				
COPG1	22820	broad.mit.edu	37	3	128971533	128971533	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:128971533A>G	ENST00000314797.6	+	4	343	c.239A>G	c.(238-240)aAt>aGt	p.N80S		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	80					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.N80S(1)									TTTCAGTCCAATGATGTAAGT	0.562																																							uc003els.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(238-240)AAT>AGT		coatomer protein complex, subunit gamma 1							97.0	86.0	89.0					3																	128971533		2203	4300	6503	SO:0001583	missense	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128971533A>G	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.239A>G	3.37:g.128971533A>G	ENSP00000325002:p.Asn80Ser					COPG_uc010htb.2_5'UTR	p.N80S	NM_016128	NP_057212	Q9Y678	COPG_HUMAN			4	339	+			80			HEAT 1.		A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	c.239A>G	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511708	0.64522	.	.	ENSG00000181789	ENST00000314797	T	0.12984	2.63	5.07	5.07	0.68467	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27967	0.0689	L	0.42581	1.335	0.49130	D	0.999753	D	0.57257	0.979	D	0.71414	0.973	T	0.00939	-1.1507	10	0.49607	T	0.09	-22.5145	12.7986	0.57573	1.0:0.0:0.0:0.0	.	80	Q9Y678	COPG_HUMAN	S	80	ENSP00000325002:N80S	ENSP00000325002:N80S	N	+	2	0	COPG	130454223	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	6.213000	0.72194	1.923000	0.55706	0.402000	0.26972	AAT		0.562	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128		51	64	0	0	0	0.00361	0	51	64				
MED12L	116931	broad.mit.edu	37	3	151085496	151085496	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:151085496G>T	ENST00000474524.1	+	22	3323	c.3285G>T	c.(3283-3285)caG>caT	p.Q1095H	MED12L_ENST00000273432.4_Missense_Mutation_p.Q955H|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1095						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q1095H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGCACGACAGTGTTTTTCCC	0.433																																							uc003eyp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(3283-3285)CAG>CAT		mediator of RNA polymerase II transcription,							201.0	177.0	185.0					3																	151085496		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151085496G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3285G>T	3.37:g.151085496G>T	ENSP00000417235:p.Gln1095His					MED12L_uc011bnz.1_Missense_Mutation_p.Q955H|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.Q258H	p.Q1095H	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		22	3323	+			1095					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.3285G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477181	0.44044	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.19806	2.12;2.12	5.61	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.23766	0.0575	N	0.04260	-0.245	0.80722	D	1	B;D;D	0.61697	0.178;0.988;0.99	B;D;D	0.72982	0.051;0.977;0.979	T	0.26677	-1.0096	10	0.87932	D	0	-18.3777	13.4145	0.60961	0.0774:0.0:0.9226:0.0	.	955;1094;1095	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	H	1095;955	ENSP00000417235:Q1095H;ENSP00000273432:Q955H	ENSP00000273432:Q955H	Q	+	3	2	MED12L	152568186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.758000	0.62220	2.793000	0.96121	0.655000	0.94253	CAG		0.433	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		70	115	1	0	3.1711e-36	0.00361	5.5627e-36	70	115				
APBB2	323	broad.mit.edu	37	4	40946967	40946967	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:40946967C>A	ENST00000295974.8	-	7	1585	c.956G>T	c.(955-957)cGg>cTg	p.R319L	APBB2_ENST00000506352.1_Missense_Mutation_p.R319L|APBB2_ENST00000508593.1_Missense_Mutation_p.R320L|APBB2_ENST00000513140.1_Missense_Mutation_p.R319L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	319	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.R319L(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGAGACGGGCCGTTCCCACTG	0.532																																					Ovarian(3;20 75 16686 49997)	Ovarian(3;20 75 16686 49997)	uc003gvl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(955-957)CGG>CTG		amyloid beta A4 precursor protein-binding,							106.0	109.0	108.0					4																	40946967		1980	4182	6162	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40946967C>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.956G>T	4.37:g.40946967C>A	ENSP00000295974:p.Arg319Leu					APBB2_uc010ifu.2_5'UTR|APBB2_uc003gvm.2_Missense_Mutation_p.R319L|APBB2_uc003gvn.2_Missense_Mutation_p.R320L|APBB2_uc011byt.1_Missense_Mutation_p.R302L	p.R319L	NM_173075	NP_775098	Q92870	APBB2_HUMAN			7	1586	-			319			WW.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.956G>T	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922953	0.52653	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000513140;ENST00000508593;ENST00000506352	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.93	5.09	0.68999	WW/Rsp5/WWP (6);	0.051195	0.85682	D	0.000000	D	0.88760	0.6524	L	0.55481	1.735	0.80722	D	1	D;D;P;D	0.71674	0.998;0.994;0.764;0.994	D;D;P;D	0.80764	0.994;0.964;0.504;0.964	D	0.89068	0.3467	10	0.52906	T	0.07	-14.6125	15.3404	0.74290	0.0:0.9327:0.0:0.0673	.	302;320;319;319	B4DJ88;E9PG87;Q92870-2;Q92870	.;.;.;APBB2_HUMAN	L	319;318;319;320;319	ENSP00000295974:R319L;ENSP00000426018:R319L;ENSP00000427211:R320L;ENSP00000421539:R319L	ENSP00000295974:R319L	R	-	2	0	APBB2	40641724	1.000000	0.71417	0.959000	0.39883	0.249000	0.25844	4.656000	0.61483	1.512000	0.48834	0.591000	0.81541	CGG		0.532	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		27	92	1	0	8.58068e-18	0.007291	1.30161e-17	27	92				
RASGEF1B	153020	broad.mit.edu	37	4	82369318	82369318	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:82369318C>G	ENST00000264400.2	-	5	710	c.559G>C	c.(559-561)Gtt>Ctt	p.V187L	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.V186L|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.V145L	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	187					positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.V187L(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GTCTTGAGAACTGTGAGCCGA	0.502																																							uc003hmi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GTT>CTT		RasGEF domain family, member 1B							288.0	243.0	258.0					4																	82369318		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82369318C>G	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.559G>C	4.37:g.82369318C>G	ENSP00000264400:p.Val187Leu					RASGEF1B_uc003hmj.1_Missense_Mutation_p.V186L|RASGEF1B_uc010ijq.1_Missense_Mutation_p.V145L	p.V187L	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			5	703	-			187					Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.559G>C	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	14.59	2.581001	0.46006	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	5.31	4.47	0.54385	Ras guanine nucleotide exchange factor, domain (1);	0.117279	0.64402	D	0.000019	T	0.25531	0.0621	L	0.50333	1.59	0.80722	D	1	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.12837	0.005;0.008;0.001	T	0.04242	-1.0966	10	0.22109	T	0.4	.	15.9213	0.79575	0.0:0.8647:0.1353:0.0	.	145;186;187	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	L	186;187;145;32	ENSP00000425393:V186L;ENSP00000264400:V187L;ENSP00000338437:V145L;ENSP00000426929:V32L	ENSP00000264400:V187L	V	-	1	0	RASGEF1B	82588342	0.330000	0.24705	0.379000	0.26080	0.967000	0.64934	1.792000	0.38754	1.485000	0.48380	0.591000	0.81541	GTT		0.502	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		26	158	0	0	0	0.004656	0	26	158				
ADH1B	125	broad.mit.edu	37	4	100239267	100239267	+	Silent	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:100239267A>T	ENST00000305046.8	-	3	262	c.195T>A	c.(193-195)atT>atA	p.I65I	ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000394887.3_Silent_p.I25I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	65					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.I65I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CATGGCCTAAAATCACAGGAA	0.517																																							uc003hus.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(193-195)ATT>ATA		class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)						170.0	162.0	165.0					4																	100239267		2203	4300	6503	SO:0001819	synonymous_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100239267A>T	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.195T>A	4.37:g.100239267A>T						ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Silent_p.I25I|ADH1B_uc011ceh.1_5'UTR|ADH1B_uc011cei.1_Silent_p.I25I	p.I65I	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	3	279	-			65					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	c.195T>A	CCDS34033.1																																																																																				0.517	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		37	166	0	0	0	0.007835	0	37	166				
MARCH1	55016	broad.mit.edu	37	4	165118386	165118386	+	Intron	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:165118386C>G	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V160L(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGGCCCTCCACGTGGTCCTCA	0.542																																							uc011cjk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(478-480)GTG>CTG		acidic nuclear phosphoprotein 32C							119.0	106.0	111.0					4																	165118386		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118386C>G	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85572G>C	4.37:g.165118386C>G						MARCH1_uc003iqs.1_Intron	p.V160L	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	478	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	160			Asp/Glu-rich (highly acidic).		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.478G>C	CCDS54814.1																																																																																				0.542	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		17	61	0	0	0	0.004007	0	17	61				
WWC2	80014	broad.mit.edu	37	4	184205516	184205516	+	Silent	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:184205516A>T	ENST00000403733.3	+	19	3220	c.3021A>T	c.(3019-3021)ccA>ccT	p.P1007P	WWC2_ENST00000448232.2_Silent_p.P1031P|WWC2_ENST00000504005.1_Silent_p.P689P|WWC2_ENST00000513834.1_Silent_p.P958P|WWC2_ENST00000508747.1_Silent_p.P135P	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	1007					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.P1007P(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCTTTTCTCCAGGAGAGCGGA	0.572																																							uc010irx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(3019-3021)CCA>CCT		WW and C2 domain containing 2							117.0	104.0	108.0					4																	184205516		2203	4300	6503	SO:0001819	synonymous_variant	80014							g.chr4:184205516A>T	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.3021A>T	4.37:g.184205516A>T						WWC2_uc003ivk.3_Silent_p.P802P|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Silent_p.P689P|WWC2_uc003ivn.3_Silent_p.P522P|WWC2_uc010irz.2_Silent_p.P348P|WWC2_uc003ivo.3_Silent_p.P135P	p.P1007P	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	19	3203	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	1007					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Silent	SNP	ENST00000403733.3	37	c.3021A>T	CCDS34109.2																																																																																				0.572	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		15	103	0	0	0	0.006122	0	15	103				
F11	2160	broad.mit.edu	37	4	187208902	187208902	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:187208902G>C	ENST00000403665.2	+	14	1993	c.1641G>C	c.(1639-1641)aaG>aaC	p.K547N	F11_ENST00000264692.4_Missense_Mutation_p.K495N|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	547	Heparin-binding.|Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.K547N(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGTGCCAGAAGAGATACAGAG	0.413																																							uc003iza.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1639-1641)AAG>AAC		coagulation factor XI precursor	Coagulation Factor IX(DB00100)						105.0	103.0	103.0					4																	187208902		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187208902G>C	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1641G>C	4.37:g.187208902G>C	ENSP00000384957:p.Lys547Asn					uc003izb.1_Intron	p.K547N	NM_000128	NP_000119	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	14	1974	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	547			Peptidase S1.|Heparin-binding.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.1641G>C	CCDS3847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.528|2.528	-0.309269|-0.309269	0.05458|0.05458	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000403665;ENST00000264692|ENST00000264691	D;D|.	0.88818|.	-2.43;-2.43|.	4.92|4.92	1.37|1.37	0.22104|0.22104	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	1.510670|.	0.03537|.	N|.	0.223287|.	T|T	0.25044|0.25044	0.0608|0.0608	L|L	0.37630|0.37630	1.12|1.12	0.09310|0.09310	N|N	1|1	B|.	0.16396|.	0.017|.	B|.	0.16722|.	0.016|.	T|T	0.22452|0.22452	-1.0216|-1.0216	10|5	0.41790|.	T|.	0.15|.	.|.	1.3358|1.3358	0.02145|0.02145	0.4575:0.1414:0.2636:0.1375|0.4575:0.1414:0.2636:0.1375	.|.	547|.	P03951|.	FA11_HUMAN|.	N|T	547;495|81	ENSP00000384957:K547N;ENSP00000264692:K495N|.	ENSP00000264692:K495N|.	K|R	+|+	3|2	2|0	F11|F11	187445896|187445896	0.002000|0.002000	0.14202|0.14202	0.191000|0.191000	0.23289|0.23289	0.017000|0.017000	0.09413|0.09413	0.711000|0.711000	0.25764|0.25764	0.461000|0.461000	0.27071|0.27071	0.561000|0.561000	0.74099|0.74099	AAG|AGA		0.413	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			14	111	0	0	0	0.00499	0	14	111				
ZFP42	132625	broad.mit.edu	37	4	188924086	188924086	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:188924086C>A	ENST00000326866.4	+	4	533	c.125C>A	c.(124-126)cCt>cAt	p.P42H	ZFP42_ENST00000509524.1_Missense_Mutation_p.P42H	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	42					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P42H(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAATAGAACCTGTCAGCGCG	0.562																																							uc003izg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(124-126)CCT>CAT		zinc finger protein 42							106.0	92.0	97.0					4																	188924086		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924086C>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.125C>A	4.37:g.188924086C>A	ENSP00000317686:p.Pro42His					ZFP42_uc003izh.1_Missense_Mutation_p.P42H|ZFP42_uc003izi.1_Missense_Mutation_p.P42H	p.P42H	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	370	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	42					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.125C>A	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124646	0.56613	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.13196	2.61;2.61	4.68	2.97	0.34412	.	0.330476	0.27725	U	0.018103	T	0.20210	0.0486	L	0.52573	1.65	0.09310	N	1	D	0.63046	0.992	P	0.52710	0.707	T	0.03306	-1.1050	10	0.87932	D	0	.	9.4738	0.38858	0.0:0.8252:0.0:0.1748	.	42	Q96MM3	ZFP42_HUMAN	H	42	ENSP00000317686:P42H;ENSP00000424662:P42H	ENSP00000317686:P42H	P	+	2	0	ZFP42	189161080	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.167000	0.16602	0.899000	0.36444	0.655000	0.94253	CCT		0.562	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		11	59	1	0	5.50884e-06	0.001368	6.57709e-06	11	59				
ADAMTS16	170690	broad.mit.edu	37	5	5239824	5239824	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:5239824G>T	ENST00000274181.7	+	16	2447	c.2309G>T	c.(2308-2310)gGa>gTa	p.G770V		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	770	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G770V(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTCCTTCTGGAGCCCGGAGT	0.473																																							uc003jdl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8						c.(2308-2310)GGA>GTA		ADAM metallopeptidase with thrombospondin type 1							159.0	148.0	151.0					5																	5239824		1870	4112	5982	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5239824G>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2309G>T	5.37:g.5239824G>T	ENSP00000274181:p.Gly770Val					ADAMTS16_uc003jdk.1_Missense_Mutation_p.G770V	p.G770V	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN			16	2447	+			770			Spacer.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.2309G>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751674	0.89753	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.73789	-0.78	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	D	0.90700	0.7082	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93120	0.6524	10	0.87932	D	0	.	18.2879	0.90120	0.0:0.0:1.0:0.0	.	770;770	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	V	770	ENSP00000274181:G770V	ENSP00000274181:G770V	G	+	2	0	ADAMTS16	5292824	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	8.985000	0.93487	2.615000	0.88500	0.655000	0.94253	GGA		0.473	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		82	210	1	0	2.38877e-28	0.00361	4.03266e-28	82	210				
TRIO	7204	broad.mit.edu	37	5	14331009	14331010	+	Splice_Site	DNP	GG	GG	TT			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:14331009_14331010GG>TT	ENST00000344204.4	+	10	1878	c.1854_1854GG>TT	c.(1852-1854)caGG>caTTg	p.Q618H	TRIO_ENST00000509967.2_Splice_Site_p.Q569H|TRIO_ENST00000537187.1_Splice_Site_p.Q618H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	618					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGTGGCACAGGTAAAACAATG	0.396																																							uc003jff.2		NA																	1	Unknown(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.e10+1		triple functional domain (PTPRF interacting)																																				SO:0001630	splice_region_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14331009_14331010GG>TT	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	Exception_encountered	5.37:g.14331009_14331010delinsTT						TRIO_uc003jfg.2_Splice_Site|TRIO_uc011cna.1_Splice_Site_p.Q569_splice|TRIO_uc003jfh.1_Splice_Site_p.Q267_splice	p.Q618_splice	NM_007118	NP_009049	O75962	TRIO_HUMAN			10	1860	+	Lung NSC(4;0.000742)							D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Splice_Site	DNP	ENST00000344204.4	37	c.1854_splice	CCDS3883.1																																																																																				0.396	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	Missense_Mutation	49	189	0	0	0	0.004672	0	49	189				
ADAMTS12	81792	broad.mit.edu	37	5	33561189	33561189	+	Silent	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:33561189A>T	ENST00000504830.1	-	20	4403	c.4068T>A	c.(4066-4068)ccT>ccA	p.P1356P	ADAMTS12_ENST00000352040.3_Silent_p.P1271P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1356	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1356P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATCTTTTTGCAGGGTCAGGTC	0.567										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4066-4068)CCT>CCA		ADAM metallopeptidase with thrombospondin type 1							131.0	119.0	123.0					5																	33561189		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33561189A>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4068T>A	5.37:g.33561189A>T		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.P1271P	p.P1356P	NM_030955	NP_112217	P58397	ATS12_HUMAN			20	4231	-			1356			TSP type-1 5.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.4068T>A	CCDS34140.1																																																																																				0.567	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		39	143	0	0	0	0.010771	0	39	143				
ADAMTS12	81792	broad.mit.edu	37	5	33576896	33576896	+	Missense_Mutation	SNP	G	G	C	rs145508149	byFrequency	TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:33576896G>C	ENST00000504830.1	-	19	3570	c.3235C>G	c.(3235-3237)Cgc>Ggc	p.R1079G	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R994G|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1079	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1079G(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATGAGATAGCGAGAGCTCAGC	0.517										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3235-3237)CGC>GGC		ADAM metallopeptidase with thrombospondin type 1							125.0	118.0	120.0					5																	33576896		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576896G>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3235C>G	5.37:g.33576896G>C	ENSP00000422554:p.Arg1079Gly	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.R994G	p.R1079G	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3398	-			1079			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3235C>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	g	0.030	-1.340197	0.01277	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.39406	1.08;1.08	4.93	-2.91	0.05631	.	1.928310	0.01728	N	0.028718	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.013	B;B	0.20384	0.029;0.008	T	0.04017	-1.0984	10	0.25751	T	0.34	.	0.2054	0.00150	0.3347:0.2376:0.1867:0.241	.	994;1079	P58397-3;P58397	.;ATS12_HUMAN	G	1079;994	ENSP00000422554:R1079G;ENSP00000344847:R994G	ENSP00000344847:R994G	R	-	1	0	ADAMTS12	33612653	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.439000	0.06897	-0.922000	0.03789	-0.899000	0.02877	CGC		0.517	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		23	87	0	0	0	0.004656	0	23	87				
NUP155	9631	broad.mit.edu	37	5	37370996	37370996	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:37370996C>A	ENST00000231498.3	-	1	287	c.84G>T	c.(82-84)cgG>cgT	p.R28R	NUP155_ENST00000513532.1_Silent_p.R28R|NUP155_ENST00000381843.2_5'Flank	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	28					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.R28R(1)		endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGTCGATGAGCCGTCCAGCAT	0.572																																							uc003jku.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(82-84)CGG>CGT		nucleoporin 155kDa isoform 1							88.0	84.0	85.0					5																	37370996		2203	4300	6503	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37370996C>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.84G>T	5.37:g.37370996C>A						NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Silent_p.R28R	p.R28R	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	202	-	all_lung(31;0.000137)		28					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.84G>T	CCDS3921.1																																																																																				0.572	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		37	139	1	0	4.62619e-21	0.004289	7.37372e-21	37	139				
APC	324	broad.mit.edu	37	5	112175531	112175531	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:112175531G>A	ENST00000457016.1	+	16	4620	c.4240G>A	c.(4240-4242)Gta>Ata	p.V1414I	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.V1414I|APC_ENST00000508376.2_Missense_Mutation_p.V1414I			P25054	APC_HUMAN	adenomatous polyposis coli	1414	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.V1414fs*9(6)|p.V1414I(2)|p.V1414fs*1(2)|p.Y1376fs*41(1)|p.?(1)|p.S1411fs*41(1)|p.M1413fs*5(1)|p.P1409fs*6(1)|p.K1192fs*3(1)|p.V1414fs*3(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGTGGAATGGTAAGTGGCAT	0.478		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		17	Deletion - Frameshift(8)|Insertion - Frameshift(6)|Substitution - Missense(2)|Unknown(1)	p.V1414fs*1(8)|p.V1414fs*9(6)|p.Y1376fs*41(1)|p.?(1)|p.S1411fs*41(1)|p.M1413fs*5(1)|p.P1409fs*6(1)|p.K1192fs*3(1)|p.V1414fs*5(1)|p.V1414I(1)|p.V1414fs*3(1)	large_intestine(13)|lung(1)|stomach(1)|soft_tissue(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(4240-4242)GTA>ATA		adenomatous polyposis coli							116.0	106.0	110.0					5																	112175531		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175531G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4240G>A	5.37:g.112175531G>A	ENSP00000413133:p.Val1414Ile	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.V1396I|APC_uc003kpz.3_Missense_Mutation_p.V1414I|APC_uc003kpy.3_Missense_Mutation_p.V1414I|APC_uc010jbz.2_Missense_Mutation_p.V1131I|APC_uc010jca.2_Missense_Mutation_p.V714I	p.V1414I	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4620	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1414			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4240G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838811	0.32513	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.88896	-2.44;-2.44;-2.44	6.07	5.17	0.71159	.	0.231090	0.46145	N	0.000303	T	0.79064	0.4383	N	0.20530	0.585	0.40411	D	0.979742	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.72144	-0.4379	9	.	.	.	-11.6185	9.7322	0.40368	0.1632:0.0:0.8368:0.0	.	1416;1414	Q4LE70;P25054	.;APC_HUMAN	I	1414	ENSP00000413133:V1414I;ENSP00000257430:V1414I;ENSP00000427089:V1414I	.	V	+	1	0	APC	112203430	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.328000	0.59253	1.489000	0.48450	0.655000	0.94253	GTA		0.478	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		29	64	0	0	0	0.008361	0	29	64				
PCDHA5	56143	broad.mit.edu	37	5	140203040	140203040	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:140203040C>A	ENST00000529859.1	+	1	1680	c.1680C>A	c.(1678-1680)aaC>aaA	p.N560K	PCDHA5_ENST00000529619.1_Missense_Mutation_p.N560K|PCDHA5_ENST00000378126.3_Missense_Mutation_p.N560K|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	560	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.N560K(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCGGCGC	0.711																																							uc003lhl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|skin(1)	3						c.(1678-1680)AAC>AAA		protocadherin alpha 5 isoform 1 precursor							53.0	58.0	57.0					5																	140203040		2202	4297	6499	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140203040C>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1680C>A	5.37:g.140203040C>A	ENSP00000436557:p.Asn560Lys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.N560K|PCDHA5_uc003lhj.1_Missense_Mutation_p.N560K	p.N560K	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1680	+			560			Extracellular (Potential).|Cadherin 5.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1680C>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	c	11.49	1.654554	0.29425	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.52983	0.64;0.64;0.64	3.86	-0.0479	0.13841	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.78723	0.4328	H	0.99261	4.49	0.27340	N	0.956532	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.988;0.995;0.996	T	0.68127	-0.5491	9	0.87932	D	0	.	8.8112	0.34967	0.0:0.5183:0.0:0.4817	.	560;560;560	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	K	560	ENSP00000433416:N560K;ENSP00000436557:N560K;ENSP00000367366:N560K	ENSP00000367366:N560K	N	+	3	2	PCDHA5	140183224	0.017000	0.18338	0.972000	0.41901	0.005000	0.04900	-0.585000	0.05794	-0.295000	0.08960	-0.374000	0.07098	AAC		0.711	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		48	95	1	0	1.27862e-28	0.00361	2.1702e-28	48	95				
PCDHA13	56136	broad.mit.edu	37	5	140263146	140263146	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:140263146C>A	ENST00000289272.2	+	1	1293	c.1293C>A	c.(1291-1293)ggC>ggA	p.G431G	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.G431G|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G431G(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACGGGGGCTCGCCTTCGC	0.652																																					Melanoma(147;1739 1852 5500 27947 37288)	Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1291-1293)GGC>GGA		protocadherin alpha 13 isoform 1 precursor							87.0	92.0	90.0					5																	140263146		2203	4300	6503	SO:0001819	synonymous_variant	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263146C>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1293C>A	5.37:g.140263146C>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.G431G|PCDHA13_uc003lid.2_Silent_p.G431G	p.G431G	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1293	+			431			Cadherin 4.|Extracellular (Potential).		O75277	Silent	SNP	ENST00000289272.2	37	c.1293C>A	CCDS4240.1																																																																																				0.652	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		30	110	1	0	2.19962e-31	0.00874	3.7537e-31	30	110				
PCDHB1	29930	broad.mit.edu	37	5	140433455	140433455	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:140433455T>A	ENST00000306549.3	+	1	2477	c.2400T>A	c.(2398-2400)gaT>gaA	p.D800E		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	800					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D800E(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAATTCTGATAGGAATAAGT	0.438																																							uc003lik.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2398-2400)GAT>GAA		protocadherin beta 1 precursor							68.0	73.0	72.0					5																	140433455		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140433455T>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2400T>A	5.37:g.140433455T>A	ENSP00000307234:p.Asp800Glu						p.D800E	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2477	+			800			Cytoplasmic (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.2400T>A	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	T	0.257	-1.002656	0.02128	.	.	ENSG00000171815	ENST00000306549	T	0.49720	0.77	5.75	-5.41	0.02648	.	2.014500	0.02602	N	0.101172	T	0.22859	0.0552	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07102	-1.0790	10	0.49607	T	0.09	.	1.0741	0.01628	0.3753:0.1857:0.095:0.344	.	800	Q9Y5F3	PCDB1_HUMAN	E	800	ENSP00000307234:D800E	ENSP00000307234:D800E	D	+	3	2	PCDHB1	140413639	0.000000	0.05858	0.058000	0.19502	0.003000	0.03518	-1.831000	0.01698	-1.762000	0.01308	-2.556000	0.00176	GAT		0.438	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		40	116	0	0	0	0.009718	0	40	116				
PCDHGA7	56108	broad.mit.edu	37	5	140763083	140763083	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:140763083G>T	ENST00000518325.1	+	1	617	c.617G>T	c.(616-618)cGg>cTg	p.R206L	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R206L(1)		NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGAAGAGCGGGTTCACCAC	0.622																																							uc003lka.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(616-618)CGG>CTG		protocadherin gamma subfamily A, 7 isoform 1							19.0	24.0	22.0					5																	140763083		2124	4228	6352	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763083G>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.617G>T	5.37:g.140763083G>T	ENSP00000430024:p.Arg206Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.R206L	p.R206L	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	617	+			206			Extracellular (Potential).|Cadherin 2.		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.617G>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	3.646	-0.072564	0.07228	.	.	ENSG00000253537	ENST00000518325	T	0.20738	2.05	5.08	-2.25	0.06888	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.19167	0.0460	L	0.52011	1.625	0.09310	N	1	B;B	0.14805	0.009;0.011	B;B	0.27262	0.078;0.003	T	0.34850	-0.9812	9	0.46703	T	0.11	.	7.9872	0.30218	0.1026:0.2826:0.5326:0.0821	.	206;206	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	L	206	ENSP00000430024:R206L	ENSP00000430024:R206L	R	+	2	0	PCDHGA7	140743267	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	-0.186000	0.09670	-0.760000	0.04677	-0.897000	0.02905	CGG		0.622	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		7	27	1	0	5.4927e-09	0.004482	7.06848e-09	7	27				
PCDHGB3	56102	broad.mit.edu	37	5	140807640	140807640	+	Intron	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:140807640G>T	ENST00000576222.1	+	1	2546				PCDHGA12_ENST00000252085.3_5'Flank|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA11_ENST00000518882.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGATTCGGGACACAACGC	0.657																																							uc011daz.1		NA																	0					0						c.(1429-1431)GGA>TGA		Homo sapiens PCDH-psi3 pseudogene, mRNA sequence.																																				SO:0001627	intron_variant	56120							g.chr5:140807640G>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+55264G>T	5.37:g.140807640G>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_5'Flank|PCDHGA12_uc003lkt.1_5'Flank	p.G477*	NR_001297						1	1788	+								A7E229|Q9Y5C7	Nonsense_Mutation	SNP	ENST00000576222.1	37	c.1429G>T	CCDS58980.1																																																																																				0.657	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		10	24	1	0	2.27111e-07	0.001368	2.79658e-07	10	24				
SH3TC2	79628	broad.mit.edu	37	5	148386452	148386452	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:148386452G>T	ENST00000515425.1	-	16	3768	c.3667C>A	c.(3667-3669)Cag>Aag	p.Q1223K	SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.Q1216K|SH3TC2_ENST00000502274.1_Missense_Mutation_p.Q85K	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1223					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.Q1223K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTTCAGCTGGCAGAAGGTG	0.552																																							uc003lpu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3667-3669)CAG>AAG		SH3 domain and tetratricopeptide repeats 2							100.0	106.0	104.0					5																	148386452		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148386452G>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3667C>A	5.37:g.148386452G>T	ENSP00000423660:p.Gln1223Lys					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.Q867K|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.Q770K|SH3TC2_uc010jgx.2_Missense_Mutation_p.Q1216K	p.Q1223K	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	3819	-			1223			TPR 8.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.3667C>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886991	0.33348	.	.	ENSG00000169247	ENST00000502274;ENST00000515425;ENST00000512049	T;T;T	0.75477	0.3;-0.87;-0.94	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.125201	0.53938	D	0.000052	T	0.59542	0.2201	N	0.24115	0.695	0.80722	D	1	B;B;B	0.14805	0.011;0.011;0.011	B;B;B	0.17098	0.017;0.017;0.017	T	0.54091	-0.8345	10	0.10111	T	0.7	-6.1337	13.6865	0.62520	0.0:0.0:0.7494:0.2506	.	1216;1223;1223	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	K	85;1223;1216	ENSP00000421092:Q85K;ENSP00000423660:Q1223K;ENSP00000421860:Q1216K	ENSP00000421092:Q85K	Q	-	1	0	SH3TC2	148366645	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.364000	0.44187	2.941000	0.99782	0.655000	0.94253	CAG		0.552	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		49	122	1	0	4.88482e-21	0.00361	7.74664e-21	49	122				
PDE6A	5145	broad.mit.edu	37	5	149264140	149264140	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:149264140G>T	ENST00000255266.5	-	16	2048	c.1929C>A	c.(1927-1929)agC>agA	p.S643R		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	643					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)	p.S643R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AGATATTCAGGCTCTAAAGAA	0.483																																							uc003lrg.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1927-1929)AGC>AGA		phosphodiesterase 6A							73.0	75.0	74.0					5																	149264140		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149264140G>T		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1929C>A	5.37:g.149264140G>T	ENSP00000255266:p.Ser643Arg						p.S643R	NM_000440	NP_000431	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		16	2049	-			643					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.1929C>A	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.561180	0.27915	.	.	ENSG00000132915	ENST00000255266	T	0.76709	-1.04	5.72	3.7	0.42460	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.713282	0.14489	N	0.316455	T	0.69296	0.3095	L	0.42581	1.335	0.24406	N	0.994686	B	0.15719	0.014	B	0.27262	0.078	T	0.62835	-0.6770	10	0.87932	D	0	.	5.1011	0.14760	0.3458:0.0:0.6542:0.0	.	643	P16499	PDE6A_HUMAN	R	643	ENSP00000255266:S643R	ENSP00000255266:S643R	S	-	3	2	PDE6A	149244333	0.000000	0.05858	0.541000	0.28102	0.760000	0.43138	-0.169000	0.09911	1.431000	0.47355	0.557000	0.71058	AGC		0.483	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			19	67	1	0	1.40151e-16	0.010504	2.08566e-16	19	67				
KIF4B	285643	broad.mit.edu	37	5	154394443	154394443	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:154394443G>C	ENST00000435029.4	+	1	1184	c.1024G>C	c.(1024-1026)Gtt>Ctt	p.V342L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	342					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.V342L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAAACCTATTGTTAATATTGA	0.433																																							uc010jih.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1024-1026)GTT>CTT		kinesin family member 4B							181.0	182.0	181.0					5																	154394443		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394443G>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1024G>C	5.37:g.154394443G>C	ENSP00000387875:p.Val342Leu						p.V342L	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1184	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	342			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.1024G>C	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	9.462	1.093443	0.20471	.	.	ENSG00000226650	ENST00000435029	T	0.72942	-0.7	1.48	0.569	0.17340	Kinesin, motor domain (2);	.	.	.	.	T	0.63046	0.2478	M	0.64260	1.97	0.48762	D	0.999705	B	0.14805	0.011	B	0.23852	0.049	T	0.56282	-0.8005	9	0.48119	T	0.1	.	5.5802	0.17245	0.2028:0.0:0.7972:0.0	.	342	Q2VIQ3	KIF4B_HUMAN	L	342	ENSP00000387875:V342L	ENSP00000387875:V342L	V	+	1	0	KIF4B	154374636	0.993000	0.37304	0.992000	0.48379	0.964000	0.63967	1.958000	0.40402	0.191000	0.20236	0.563000	0.77884	GTT		0.433	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			84	243	0	0	0	0.00361	0	84	243				
TIMD4	91937	broad.mit.edu	37	5	156378554	156378554	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:156378554C>T	ENST00000274532.2	-	3	704	c.648G>A	c.(646-648)gaG>gaA	p.E216E	TIMD4_ENST00000407087.3_Silent_p.E216E	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	216						integral component of membrane (GO:0016021)		p.E216E(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTTAGAAGGCTCGGGAGTCA	0.532																																							uc003lwh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(646-648)GAG>GAA		T-cell immunoglobulin and mucin domain							194.0	177.0	183.0					5																	156378554		2203	4300	6503	SO:0001819	synonymous_variant	91937					integral to membrane		g.chr5:156378554C>T	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.648G>A	5.37:g.156378554C>T						TIMD4_uc010jii.2_Silent_p.E216E	p.E216E	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	705	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	216			Extracellular (Potential).		B5MCL9	Silent	SNP	ENST00000274532.2	37	c.648G>A	CCDS4332.1																																																																																				0.532	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		26	91	0	0	0	0.012213	0	26	91				
ADAM19	8728	broad.mit.edu	37	5	156932741	156932741	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:156932741C>A	ENST00000517905.1	-	11	1110	c.1066G>T	c.(1066-1068)Gat>Tat	p.D356Y	ADAM19_ENST00000430702.2_Missense_Mutation_p.D89Y|ADAM19_ENST00000257527.4_Missense_Mutation_p.D356Y|ADAM19_ENST00000394020.1_Missense_Mutation_p.D358Y			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	356	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D357Y(1)|p.D356Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTGCAGAATCATGGGTCATG	0.592																																							uc003lwz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(1066-1068)GAT>TAT		ADAM metallopeptidase domain 19 preproprotein							64.0	51.0	55.0					5																	156932741		2203	4300	6503	SO:0001583	missense	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156932741C>A	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1066G>T	5.37:g.156932741C>A	ENSP00000428654:p.Asp356Tyr					ADAM19_uc003lww.1_Missense_Mutation_p.D89Y|ADAM19_uc003lwy.2_5'Flank|ADAM19_uc011ddr.1_Missense_Mutation_p.D287Y	p.D356Y	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		11	1130	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	356			Peptidase M12B.|Extracellular (Potential).		Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37	c.1066G>T		.	.	.	.	.	.	.	.	.	.	C	21.4	4.150724	0.78001	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;D;D;D	0.91577	1.47;-2.87;-2.87;-2.87	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	D	0.97726	0.9254	H	0.99042	4.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98609	1.0662	10	0.87932	D	0	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	356;89	Q9H013-2;E9PD32	.;.	Y	89;356;358;356	ENSP00000414088:D89Y;ENSP00000257527:D356Y;ENSP00000377588:D358Y;ENSP00000428654:D356Y	ENSP00000257527:D356Y	D	-	1	0	ADAM19	156865319	1.000000	0.71417	0.160000	0.22671	0.418000	0.31294	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAT		0.592	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		15	17	1	0	3.41278e-10	0.00499	4.61902e-10	15	17				
DRD1	1812	broad.mit.edu	37	5	174869878	174869878	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:174869878G>A	ENST00000393752.2	-	2	1217	c.225C>T	c.(223-225)gtC>gtT	p.V75V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	75					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.V75V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCATGACCAGGACGGCCACCA	0.562																																							uc003mcz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(223-225)GTC>GTT		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						83.0	68.0	73.0					5																	174869878		2203	4300	6503	SO:0001819	synonymous_variant	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869878G>A	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.225C>T	5.37:g.174869878G>A							p.V75V	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1170	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	75			Helical; Name=2; (Potential).		B2RA44|Q4QRJ0	Silent	SNP	ENST00000393752.2	37	c.225C>T	CCDS4393.1																																																																																				0.562	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		4	54	0	0	0	0.00308	0	4	54				
UNC5A	90249	broad.mit.edu	37	5	176295144	176295144	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:176295144G>T	ENST00000329542.4	+	3	580	c.306G>T	c.(304-306)atG>atT	p.M102I	UNC5A_ENST00000261961.3_Missense_Mutation_p.M62I	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	102	Ig-like.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M102I(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCCACCATGGAGGTCCGCA	0.647																																							uc003mey.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(304-306)ATG>ATT		netrin receptor Unc5h1 precursor							105.0	104.0	104.0					5																	176295144		2203	4300	6503	SO:0001583	missense	90249				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		g.chr5:176295144G>T	AB075856	CCDS34299.1	5q35.3	2013-01-11	2001-11-28		ENSG00000113763	ENSG00000113763		"""Immunoglobulin superfamily / I-set domain containing"""	12567	protein-coding gene	gene with protein product		607869	"""unc5 (C.elegans homolog) a"""				Standard	XM_006714927		Approved	KIAA1976, UNC5H1	uc003mey.3	Q6ZN44	OTTHUMG00000163225	ENST00000329542.4:c.306G>T	5.37:g.176295144G>T	ENSP00000332737:p.Met102Ile					UNC5A_uc003mex.1_Missense_Mutation_p.M102I|UNC5A_uc010jkg.1_Missense_Mutation_p.M62I	p.M102I	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	498	+	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	102			Ig-like.|Extracellular (Potential).		B2RXE6|Q8TF26|Q96GP4	Missense_Mutation	SNP	ENST00000329542.4	37	c.306G>T	CCDS34299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.02|13.02	2.113177|2.113177	0.37339|0.37339	.|.	.|.	ENSG00000113763|ENSG00000113763	ENST00000509580|ENST00000329542;ENST00000261961	.|T;T	.|0.21734	.|1.99;1.99	5.13|5.13	4.25|4.25	0.50352|0.50352	.|Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.28101	.|0.0693	L|L	0.56769|0.56769	1.78|1.78	0.45946|0.45946	D|D	0.998778|0.998778	.|P;B;P	.|0.49783	.|0.928;0.449;0.652	.|P;B;B	.|0.48598	.|0.583;0.112;0.442	.|T	.|0.02009	.|-1.1230	.|10	.|0.41790	.|T	.|0.15	-29.4657|-29.4657	11.4672|11.4672	0.50246|0.50246	0.0858:0.0:0.9142:0.0|0.0858:0.0:0.9142:0.0	.|.	.|62;102;102	.|Q6ZN44-3;Q6ZN44;Q6ZN44-2	.|.;UNC5A_HUMAN;.	X|I	68|102;62	.|ENSP00000332737:M102I;ENSP00000261961:M62I	.|ENSP00000261961:M62I	G|M	+|+	1|3	0|0	UNC5A|UNC5A	176227750|176227750	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.178000|0.178000	0.23041|0.23041	7.925000|7.925000	0.87563|0.87563	1.148000|1.148000	0.42385|0.42385	0.491000|0.491000	0.48974|0.48974	GGA|ATG		0.647	UNC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372166.1	XM_030300		45	130	1	0	1.86633e-21	0.00361	2.98994e-21	45	130				
ADAMTS2	9509	broad.mit.edu	37	5	178581831	178581832	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:178581831_178581832GG>TT	ENST00000251582.7	-	7	1322_1323	c.1221_1222CC>AA	c.(1219-1224)gcCCat>gcAAat	p.H408N	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.H408N	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	408	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H408N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCAGTCTCATGGGCCACCACAA	0.639																																							uc003mjw.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1219-1224)GCCCAT>GCAAAT		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178581831_178581832GG>TT	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1221_1222delinsTT	5.37:g.178581831_178581832delinsTT	ENSP00000251582:p.His408Asn					ADAMTS2_uc011dgm.1_Missense_Mutation_p.H408N	p.H408N	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	7	1221_1222	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	408			Peptidase M12B.	Zinc; catalytic (By similarity).		Missense_Mutation	DNP	ENST00000251582.7	37	c.1221_1222CC>AA	CCDS4444.1																																																																																				0.639	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		5	9	0	0	0	0.004672	0	5	9				
NUP153	9972	broad.mit.edu	37	6	17637957	17637957	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:17637957C>T	ENST00000262077.2	-	16	1890	c.1891G>A	c.(1891-1893)Gca>Aca	p.A631T	NUP153_ENST00000537253.1_Missense_Mutation_p.A662T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	631					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGGCTTGTTGCGGTGGGCTGA	0.443																																							uc003ncd.1		NA																	0				lung(4)|ovary(2)|breast(2)|skin(1)	9						c.(1891-1893)GCA>ACA		nucleoporin 153kDa							99.0	93.0	95.0					6																	17637957		2203	4300	6503	SO:0001583	missense	9972				carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	g.chr6:17637957C>T	Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1891G>A	6.37:g.17637957C>T	ENSP00000262077:p.Ala631Thr					NUP153_uc011dje.1_Missense_Mutation_p.A662T|NUP153_uc010jpl.1_Missense_Mutation_p.A589T	p.A631T	NM_005124	NP_005115	P49790	NU153_HUMAN	all cancers(50;0.0981)|Epithelial(50;0.112)		16	2091	-	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	631					B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	ENST00000262077.2	37	c.1891G>A	CCDS4541.1	.	.	.	.	.	.	.	.	.	.	C	2.851	-0.238349	0.05944	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.33216	1.42;1.42	5.83	3.47	0.39725	Nucleoporin, Nup153-like (1);	0.253161	0.27932	N	0.017263	T	0.02267	0.0070	N	0.01576	-0.805	0.09310	N	0.999999	B;B;B	0.11235	0.0;0.001;0.004	B;B;B	0.06405	0.001;0.002;0.002	T	0.46484	-0.9188	10	0.05436	T	0.98	-7.7194	7.9511	0.30014	0.0:0.2211:0.0:0.7789	.	662;611;631	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	T	631;611;662	ENSP00000262077:A631T;ENSP00000444029:A662T	ENSP00000262077:A631T	A	-	1	0	NUP153	17745936	0.045000	0.20229	0.361000	0.25849	0.939000	0.58152	0.872000	0.28037	1.015000	0.39444	-0.294000	0.09567	GCA		0.443	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039953.1			14	113	0	0	0	0.003163	0	14	113				
PGBD1	84547	broad.mit.edu	37	6	28254889	28254889	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:28254889G>C	ENST00000405948.2	+	4	1006	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q	PGBD1_ENST00000259883.3_Missense_Mutation_p.E196Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	196						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E196Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TCATCTCCAGGAAAAAAACCC	0.507																																							uc003nky.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(586-588)GAA>CAA		piggyBac transposable element derived 1							138.0	115.0	123.0					6																	28254889		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28254889G>C	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.586G>C	6.37:g.28254889G>C	ENSP00000385213:p.Glu196Gln					PGBD1_uc003nkz.2_Missense_Mutation_p.E196Q	p.E196Q	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			4	956	+			196					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.586G>C	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.578096	0.28180	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01665	4.7;4.7	4.22	2.33	0.28932	.	.	.	.	.	T	0.00580	0.0019	N	0.19112	0.55	0.20563	N	0.999881	P	0.45044	0.849	B	0.42163	0.378	T	0.51818	-0.8657	9	0.59425	D	0.04	-1.1304	4.8969	0.13755	0.1191:0.2233:0.6576:0.0	.	196	Q96JS3	PGBD1_HUMAN	Q	196	ENSP00000385213:E196Q;ENSP00000259883:E196Q	ENSP00000259883:E196Q	E	+	1	0	PGBD1	28362868	0.878000	0.30173	0.845000	0.33349	0.493000	0.33554	0.724000	0.25954	1.016000	0.39470	0.655000	0.94253	GAA		0.507	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			20	41	0	0	0	0.003954	0	20	41				
CFB	629	broad.mit.edu	37	6	31917095	31917095	+	Missense_Mutation	SNP	G	G	A	rs150398964		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:31917095G>A	ENST00000425368.2	+	9	1757	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	CFB_ENST00000556679.1_Missense_Mutation_p.R917H|CFB_ENST00000456570.1_Missense_Mutation_p.R917H|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.R766H	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	415	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.R415H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCAAGGATCGCAAAAACCCA	0.522																																							uc003nyj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1243-1245)CGC>CAC		complement factor B preproprotein		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	76.0	77.0		1244	0.9	0.9	6	dbSNP_134	77	0,8600		0,0,4300	no	missense	CFB	NM_001710.5	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	415/765	31917095	1,13005	2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31917095G>A	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1244G>A	6.37:g.31917095G>A	ENSP00000416561:p.Arg415His					CFB_uc011dor.1_Missense_Mutation_p.R917H|CFB_uc003nyi.2_Missense_Mutation_p.R415H	p.R415H	NM_001710	NP_001701	P00751	CFAB_HUMAN			9	1522	+			415			VWFA.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	37	c.1244G>A	CCDS4729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.19|11.19	1.566586|1.566586	0.28003|0.28003	2.27E-4|2.27E-4	0.0|0.0	ENSG00000243649|ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000483004|ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	.|T;T;T;T	.|0.78003	.|-1.14;-1.14;-1.14;-1.14	5.95|5.95	0.899|0.899	0.19271|0.19271	.|von Willebrand factor, type A (3);	.|0.469789	.|0.20245	.|N	.|0.096201	T|T	0.51618|0.51618	0.1685|0.1685	M|M	0.76328|0.76328	2.33|2.33	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.30361	.|0.277;0.021;0.02	.|B;B;B	.|0.19391	.|0.025;0.005;0.003	T|T	0.43507|0.43507	-0.9387|-0.9387	5|10	.|0.37606	.|T	.|0.19	-10.0671|-10.0671	4.8511|4.8511	0.13537|0.13537	0.3017:0.2701:0.4282:0.0|0.3017:0.2701:0.4282:0.0	.|.	.|917;415;415	.|B4E1Z4;P00751;P00751-2	.|.;CFAB_HUMAN;.	T|H	28|917;415;917;766	.|ENSP00000451848:R917H;ENSP00000416561:R415H;ENSP00000410815:R917H;ENSP00000418996:R766H	.|ENSP00000416561:R415H	A|R	+|+	1|2	0|0	CFB|CFB;XXbac-BPG116M5.17	32025074|32025074	0.000000|0.000000	0.05858|0.05858	0.886000|0.886000	0.34754|0.34754	0.262000|0.262000	0.26303|0.26303	-0.106000|-0.106000	0.10890|0.10890	0.127000|0.127000	0.18452|0.18452	-0.119000|-0.119000	0.15052|0.15052	GCA|CGC		0.522	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		4	68	0	0	0	0.009096	0	4	68				
RNF8	9025	broad.mit.edu	37	6	37336424	37336424	+	Silent	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:37336424T>C	ENST00000373479.4	+	3	598	c.405T>C	c.(403-405)tgT>tgC	p.C135C	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Silent_p.C135C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	135					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C135C(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TATATCCTTGTCTTTCCCCAA	0.398																																							uc003onq.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(403-405)TGT>TGC		ring finger protein 8 isoform 1							66.0	65.0	66.0					6																	37336424		2203	4300	6503	SO:0001819	synonymous_variant	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37336424T>C	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.405T>C	6.37:g.37336424T>C						RNF8_uc003onr.3_Silent_p.C135C|RNF8_uc011dtx.1_Silent_p.C67C	p.C135C	NM_003958	NP_003949	O76064	RNF8_HUMAN			3	598	+			135					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Silent	SNP	ENST00000373479.4	37	c.405T>C	CCDS4834.1																																																																																				0.398	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			15	115	0	0	0	0.00245	0	15	115				
TTBK1	84630	broad.mit.edu	37	6	43251119	43251119	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:43251119G>T	ENST00000259750.4	+	14	2724	c.2641G>T	c.(2641-2643)Gta>Tta	p.V881L		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	881					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.V881L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAGCTGGACGTATCTGAGCC	0.721																																							uc003ouq.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9						c.(2641-2643)GTA>TTA		tau tubulin kinase 1							9.0	12.0	11.0					6																	43251119		2190	4282	6472	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43251119G>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2641G>T	6.37:g.43251119G>T	ENSP00000259750:p.Val881Leu						p.V881L	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		14	2920	+			881					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.2641G>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400413	0.42613	.	.	ENSG00000146216	ENST00000259750	T	0.53640	0.61	5.14	5.14	0.70334	.	0.200389	0.31884	N	0.006917	T	0.34395	0.0896	L	0.47716	1.5	0.80722	D	1	P	0.49090	0.919	B	0.43251	0.413	T	0.15350	-1.0440	10	0.40728	T	0.16	.	17.3729	0.87383	0.0:0.0:1.0:0.0	.	881	Q5TCY1	TTBK1_HUMAN	L	881	ENSP00000259750:V881L	ENSP00000259750:V881L	V	+	1	0	TTBK1	43359097	0.992000	0.36948	0.974000	0.42286	0.894000	0.52154	2.876000	0.48498	2.393000	0.81446	0.462000	0.41574	GTA		0.721	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			3	14	1	0	0.00024832	0.009096	0.000280477	3	14				
GPR115	221393	broad.mit.edu	37	6	47675979	47675979	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:47675979G>T	ENST00000283303.2	+	3	371	c.113G>T	c.(112-114)aGc>aTc	p.S38I	GPR115_ENST00000371220.1_Missense_Mutation_p.S95I|GPR115_ENST00000327753.3_Missense_Mutation_p.S38I	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	38					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S38I(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAACTTCAAAGCCCTGAAGGG	0.438																																					GBM(22;431 510 9010 26644 32828)	GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(112-114)AGC>ATC		G-protein coupled receptor 115 precursor							59.0	57.0	58.0					6																	47675979		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47675979G>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.113G>T	6.37:g.47675979G>T	ENSP00000283303:p.Ser38Ile					GPR115_uc003oyz.1_Missense_Mutation_p.S95I|GPR115_uc003ozb.1_Missense_Mutation_p.S36I	p.S38I	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			3	371	+			38			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.113G>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	7.016	0.557797	0.13436	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.34275	1.54;1.37;1.37	5.87	-7.58	0.01313	.	1.440410	0.03730	N	0.253284	T	0.05044	0.0135	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11012	-1.0605	10	0.16420	T	0.52	1.5672	5.6722	0.17729	0.6043:0.0994:0.1907:0.1056	.	38	Q8IZF3	GP115_HUMAN	I	95;38;38	ENSP00000360264:S95I;ENSP00000328319:S38I;ENSP00000283303:S38I	ENSP00000283303:S38I	S	+	2	0	GPR115	47783938	0.000000	0.05858	0.000000	0.03702	0.883000	0.51084	-0.259000	0.08721	-2.092000	0.00857	-0.793000	0.03317	AGC		0.438	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		21	36	1	0	5.35356e-11	0.00278	7.37288e-11	21	36				
GCM1	8521	broad.mit.edu	37	6	52998877	52998877	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:52998877C>G	ENST00000259803.7	-	3	532	c.321G>C	c.(319-321)aaG>aaC	p.K107N		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	107					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.K107N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CACGCTGCTGCTTCTGCCGGG	0.622																																							uc003pbp.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(319-321)AAG>AAC		glial cells missing homolog a							63.0	52.0	56.0					6																	52998877		2203	4300	6503	SO:0001583	missense	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52998877C>G	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.321G>C	6.37:g.52998877C>G	ENSP00000259803:p.Lys107Asn					GCM1_uc010jzr.2_Missense_Mutation_p.K107N	p.K107N	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			3	530	-	Lung NSC(77;0.0755)		107			GCM.		Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Missense_Mutation	SNP	ENST00000259803.7	37	c.321G>C	CCDS4950.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270397	0.59540	.	.	ENSG00000137270	ENST00000259803	T	0.80123	-1.34	4.84	3.07	0.35406	.	0.000000	0.85682	D	0.000000	D	0.83184	0.5199	M	0.73430	2.235	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	D	0.83701	0.0182	10	0.87932	D	0	-2.9093	7.5377	0.27721	0.0:0.6497:0.0:0.3503	.	107	Q9NP62	GCM1_HUMAN	N	107	ENSP00000259803:K107N	ENSP00000259803:K107N	K	-	3	2	GCM1	53106836	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.021000	0.30040	0.641000	0.30601	-0.136000	0.14681	AAG		0.622	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			14	28	0	0	0	0.006122	0	14	28				
DST	667	broad.mit.edu	37	6	56417220	56417220	+	Missense_Mutation	SNP	G	G	A	rs189808261		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:56417220G>A	ENST00000361203.3	-	57	15744	c.15737C>T	c.(15736-15738)cCt>cTt	p.P5246L	DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.P3160L|DST_ENST00000370788.2_Missense_Mutation_p.P3160L|DST_ENST00000244364.6_Missense_Mutation_p.P2834L|DST_ENST00000446842.2_Missense_Mutation_p.P4922L|DST_ENST00000370754.5_Missense_Mutation_p.P5426L|DST_ENST00000370769.4_Missense_Mutation_p.P5248L			Q03001	DYST_HUMAN	dystonin	5246					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.P5248L(1)|p.P2834L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACAAGGTCAGGAGAGGTTTC	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		18916	0.001		0.0	False		,,,				2504	0.0						uc003pdf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(10012-10014)CCT>CTT		dystonin isoform 2							77.0	74.0	75.0					6																	56417220		1904	4121	6025	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56417220G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.15737C>T	6.37:g.56417220G>A	ENSP00000354508:p.Pro5246Leu					DST_uc003pcz.3_Missense_Mutation_p.P3160L|DST_uc011dxj.1_Missense_Mutation_p.P3189L|DST_uc011dxk.1_Missense_Mutation_p.P3200L|DST_uc003pcy.3_Missense_Mutation_p.P2834L	p.P3338L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		55	10041	-	Lung NSC(77;0.103)		5246					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.10013C>T		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	15.67	2.901730	0.52227	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	6.17	5.31	0.75309	.	0.000000	0.53938	D	0.000045	T	0.45776	0.1359	L	0.59436	1.845	0.27728	N	0.944895	D;D;D;B;P	0.89917	1.0;1.0;1.0;0.125;0.887	D;D;D;B;P	0.97110	0.999;0.993;1.0;0.028;0.618	T	0.42120	-0.9470	9	0.33940	T	0.23	.	15.6596	0.77174	0.0652:0.0:0.9348:0.0	.	3160;5248;5426;5246;2834	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	L	2834;5426;5248;3160;4922;3160;5246	ENSP00000244364:P2834L;ENSP00000359790:P5426L;ENSP00000359805:P5248L;ENSP00000400883:P3160L;ENSP00000393645:P4922L;ENSP00000359824:P3160L;ENSP00000354508:P5246L	ENSP00000244364:P2834L	P	-	2	0	DST	56525179	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	9.476000	0.97823	1.636000	0.50526	0.655000	0.94253	CCT		0.448	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		13	70	0	0	0	0.00499	0	13	70				
BAI3	577	broad.mit.edu	37	6	69349144	69349144	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:69349144T>A	ENST00000370598.1	+	3	1398	c.577T>A	c.(577-579)Tat>Aat	p.Y193N		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	193					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Y193N(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGGATCATGTATACAAAATG	0.463																																							uc003pev.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50						c.(577-579)TAT>AAT		brain-specific angiogenesis inhibitor 3							69.0	69.0	69.0					6																	69349144		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349144T>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.577T>A	6.37:g.69349144T>A	ENSP00000359630:p.Tyr193Asn					BAI3_uc010kak.2_Missense_Mutation_p.Y193N	p.Y193N	NM_001704	NP_001695	O60242	BAI3_HUMAN			3	1025	+		all_lung(197;0.212)	193			Extracellular (Potential).		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.577T>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.804275	0.50315	.	.	ENSG00000135298	ENST00000370598	T	0.19250	2.16	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000007	T	0.24392	0.0591	L	0.36672	1.1	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.01767	-1.1278	10	0.33141	T	0.24	.	15.2194	0.73299	0.0:0.0:0.0:1.0	.	193	O60242	BAI3_HUMAN	N	193	ENSP00000359630:Y193N	ENSP00000359630:Y193N	Y	+	1	0	BAI3	69405865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.064000	0.61679	0.533000	0.62120	TAT		0.463	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			16	126	0	0	0	0.003163	0	16	126				
TTK	7272	broad.mit.edu	37	6	80720675	80720675	+	Splice_Site	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:80720675G>T	ENST00000369798.2	+	5	724		c.e5+1		TTK_ENST00000509894.1_Splice_Site|TTK_ENST00000230510.3_Splice_Site	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase						chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.?(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATTTATCAGGTAACTATTAA	0.338																																							uc003pjc.2		NA																	2	Unknown(2)		lung(2)	ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11						c.e5+1		TTK protein kinase							57.0	69.0	65.0					6																	80720675		2199	4293	6492	SO:0001630	splice_region_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80720675G>T		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.613+1G>T	6.37:g.80720675G>T						TTK_uc003pjb.3_Splice_Site_p.A205_splice	p.A205_splice	NM_003318	NP_003309	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	5	687	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)						A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Splice_Site	SNP	ENST00000369798.2	37	c.613_splice	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711026	0.30322	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5251	0.87798	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TTK	80777394	1.000000	0.71417	0.997000	0.53966	0.139000	0.21198	8.296000	0.89940	2.449000	0.82847	0.561000	0.74099	.		0.338	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2		Intron	11	57	1	0	2.80697e-09	0.010729	3.64211e-09	11	57				
FBXL4	26235	broad.mit.edu	37	6	99323305	99323305	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:99323305T>G	ENST00000369244.2	-	9	2116	c.1688A>C	c.(1687-1689)cAg>cCg	p.Q563P	FBXL4_ENST00000229971.1_Missense_Mutation_p.Q563P	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	563					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.Q563P(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TATGTCCAGCTGCTGTAACCT	0.353																																							uc003ppf.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1687-1689)CAG>CCG		F-box and leucine-rich repeat protein 4							68.0	68.0	68.0					6																	99323305		2203	4300	6503	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99323305T>G	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1688A>C	6.37:g.99323305T>G	ENSP00000358247:p.Gln563Pro					FBXL4_uc003ppg.1_Missense_Mutation_p.Q563P|FBXL4_uc003pph.1_Missense_Mutation_p.Q165P|FBXL4_uc010kcp.2_Missense_Mutation_p.Q141P	p.Q563P	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	8	2046	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	563			LRR 8.		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.1688A>C	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.547545	0.45383	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.02369	4.32;4.32	5.87	5.87	0.94306	.	0.048785	0.85682	D	0.000000	T	0.08626	0.0214	M	0.79011	2.435	0.80722	D	1	D;P	0.71674	0.998;0.627	P;B	0.62014	0.897;0.184	T	0.03514	-1.1029	10	0.48119	T	0.1	.	16.2736	0.82632	0.0:0.0:0.0:1.0	.	563;563	B2R7Q5;Q9UKA2	.;FBXL4_HUMAN	P	563	ENSP00000358247:Q563P;ENSP00000229971:Q563P	ENSP00000229971:Q563P	Q	-	2	0	FBXL4	99430026	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	7.698000	0.84413	2.247000	0.74100	0.477000	0.44152	CAG		0.353	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			16	70	0	0	0	0.002299	0	16	70				
EPB41L2	2037	broad.mit.edu	37	6	131190796	131190797	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:131190796_131190797CA>AT	ENST00000337057.3	-	15	2694_2695	c.2513_2514TG>AT	c.(2512-2514)aTG>aAT	p.M838N	EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.M216N|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.M768N|EPB41L2_ENST00000368128.2_Missense_Mutation_p.M838N|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.M768N	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	838					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.M838K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTTCTTCTCCCATGTCTTGCTT	0.446																																							uc003qch.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2512-2514)ATG>AAT		erythrocyte membrane protein band 4.1-like 2																																				SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131190796_131190797CA>AT	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2513_2514delinsAT	6.37:g.131190796_131190797delinsAT	ENSP00000338481:p.Met838Asn					EPB41L2_uc003qce.1_Missense_Mutation_p.M216N|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.M235N	p.M838N	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2695_2696	-	Breast(56;0.0639)		838					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	DNP	ENST00000337057.3	37	c.2513_2514TG>AT	CCDS5141.1																																																																																				0.446	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			71	188	0	0	0	0.004672	0	71	188				
TXLNB	167838	broad.mit.edu	37	6	139609688	139609688	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:139609688C>A	ENST00000358430.3	-	2	581	c.349G>T	c.(349-351)Gga>Tga	p.G117*	RP11-445F6.2_ENST00000440518.1_RNA|RP11-445F6.2_ENST00000441249.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	117						cytoplasm (GO:0005737)		p.G117*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GGTGGCTCTCCAGAAGCAACG	0.473																																							uc011eds.1		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(349-351)GGA>TGA		taxilin beta							135.0	134.0	134.0					6																	139609688		2203	4300	6503	SO:0001587	stop_gained	167838					cytoplasm		g.chr6:139609688C>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.349G>T	6.37:g.139609688C>A	ENSP00000351206:p.Gly117*						p.G117*	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	2	514	-			117					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Nonsense_Mutation	SNP	ENST00000358430.3	37	c.349G>T	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	C	37	6.589427	0.97688	.	.	ENSG00000164440	ENST00000358430	.	.	.	6.07	6.07	0.98685	.	0.187162	0.38837	N	0.001555	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.4117	20.6452	0.99591	0.0:1.0:0.0:0.0	.	.	.	.	X	117	.	.	G	-	1	0	TXLNB	139651381	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	3.876000	0.56115	2.885000	0.99019	0.650000	0.86243	GGA		0.473	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		46	123	1	0	1.33152e-38	0.00361	2.34886e-38	46	123				
SMOC2	64094	broad.mit.edu	37	6	169008863	169008863	+	Missense_Mutation	SNP	C	C	A	rs369851366		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr6:169008863C>A	ENST00000356284.2	+	9	1071	c.851C>A	c.(850-852)aCg>aAg	p.T284K	SMOC2_ENST00000354536.5_Missense_Mutation_p.T295K	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	284					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.T295K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TGTGACAACACGGCCAGGGCC	0.632																																							uc003qws.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(850-852)ACG>AAG		SPARC related modular calcium binding 2							35.0	31.0	33.0					6																	169008863		2203	4299	6502	SO:0001583	missense	64094				signal transduction	basement membrane	calcium ion binding	g.chr6:169008863C>A	AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.851C>A	6.37:g.169008863C>A	ENSP00000348630:p.Thr284Lys					SMOC2_uc003qwr.1_Missense_Mutation_p.T295K	p.T284K	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)	9	871	+		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)	284					B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	ENST00000356284.2	37	c.851C>A	CCDS55076.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187967	0.38609	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.34667	1.35;1.35	5.15	4.27	0.50696	Thyroglobulin type-1 (2);EF-hand-like domain (1);	0.210085	0.39909	N	0.001231	T	0.10423	0.0255	N	0.14661	0.345	0.35234	D	0.777222	B;B	0.33448	0.002;0.412	B;B	0.34418	0.006;0.182	T	0.10291	-1.0636	10	0.26408	T	0.33	-22.9275	12.511	0.56005	0.0:0.6524:0.3476:0.0	.	284;295	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	K	284;295;284	ENSP00000348630:T284K;ENSP00000346537:T295K	ENSP00000346537:T295K	T	+	2	0	SMOC2	168750788	0.983000	0.35010	0.720000	0.30636	0.875000	0.50365	1.583000	0.36579	1.136000	0.42199	0.655000	0.94253	ACG		0.632	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043201.1			6	17	1	0	8.12818e-05	0.001984	9.24728e-05	6	17				
FBXL18	80028	broad.mit.edu	37	7	5540239	5540239	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:5540239C>A	ENST00000382368.3	-	3	1784	c.1661G>T	c.(1660-1662)gGc>gTc	p.G554V	FBXL18_ENST00000453700.3_Missense_Mutation_p.G554V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	554								p.G554V(2)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCACTGCAGGCCGATATTGAC	0.657																																							uc003soo.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(1660-1662)GGC>GTC		F-box and leucine-rich repeat protein 18							26.0	31.0	29.0					7																	5540239		2083	4211	6294	SO:0001583	missense	80028							g.chr7:5540239C>A	AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1661G>T	7.37:g.5540239C>A	ENSP00000371805:p.Gly554Val					FBXL18_uc003son.3_Missense_Mutation_p.G554V	p.G554V	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)	3	1755	-		Ovarian(82;0.0607)	554			LRR 10.		Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	ENST00000382368.3	37	c.1661G>T	CCDS43546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.065423|3.065423	0.55432|0.55432	.|.	.|.	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000382368;ENST00000312577;ENST00000453700	.|T;T	.|0.00958	.|5.5;5.5	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.281389	.|0.40908	.|D	.|0.000986	T|T	0.01870|0.01870	0.0059|0.0059	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P;P	.|0.51933	.|0.949;0.903	.|P;P	.|0.51516	.|0.672;0.591	T|T	0.76558|0.76558	-0.2915|-0.2915	5|10	.|0.37606	.|T	.|0.19	.|.	18.5737|18.5737	0.91147|0.91147	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|554;554	.|F5H4Z4;Q96ME1-4	.|.;.	S|V	438|554	.|ENSP00000371805:G554V;ENSP00000444797:G554V	.|ENSP00000311990:G554V	A|G	-|-	1|2	0|0	FBXL18|FBXL18	5506765|5506765	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	4.901000|4.901000	0.63259|0.63259	2.650000|2.650000	0.89964|0.89964	0.585000|0.585000	0.79938|0.79938	GCC|GGC		0.657	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324093.1	NM_024963		5	30	1	0	0.00198382	0.001984	0.00217045	5	30				
NXPH1	30010	broad.mit.edu	37	7	8790645	8790645	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:8790645G>T	ENST00000405863.1	+	3	973	c.62G>T	c.(61-63)tGt>tTt	p.C21F	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	21						extracellular region (GO:0005576)		p.C21F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CAGGTCACATGTGCCAATTTA	0.408																																							uc003srv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(61-63)TGT>TTT		neurexophilin 1 precursor							107.0	100.0	102.0					7																	8790645		1930	4140	6070	SO:0001583	missense	30010					extracellular region		g.chr7:8790645G>T	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.62G>T	7.37:g.8790645G>T	ENSP00000384551:p.Cys21Phe					NXPH1_uc011jxh.1_5'UTR	p.C21F	NM_152745	NP_689958	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	973	+		Ovarian(82;0.0628)	21					Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.62G>T	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	9.545	1.114432	0.20795	.	.	ENSG00000122584	ENST00000405863;ENST00000438764;ENST00000429542	.	.	.	5.86	4.96	0.65561	.	0.307452	0.35970	N	0.002866	T	0.43188	0.1236	N	0.19112	0.55	0.80722	D	1	B	0.33379	0.41	B	0.25884	0.064	T	0.45906	-0.9229	9	0.87932	D	0	-4.6052	16.796	0.85602	0.0:0.1289:0.8711:0.0	.	21	P58417	NXPH1_HUMAN	F	21	.	ENSP00000384551:C21F	C	+	2	0	NXPH1	8757170	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.233000	0.65337	1.423000	0.47198	0.655000	0.94253	TGT		0.408	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		15	92	1	0	6.31663e-08	0.003163	7.87072e-08	15	92				
NPC1L1	29881	broad.mit.edu	37	7	44571766	44571766	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:44571766C>A	ENST00000289547.4	-	9	2515	c.2460G>T	c.(2458-2460)ccG>ccT	p.P820P	NPC1L1_ENST00000546276.1_Silent_p.P820P|NPC1L1_ENST00000381160.3_Silent_p.P820P	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	820					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.P820P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCTGGCCAGGCGGGGGCAGCT	0.647																																							uc003tlb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(2458-2460)CCG>CCT		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						56.0	61.0	60.0					7																	44571766		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44571766C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2460G>T	7.37:g.44571766C>A						NPC1L1_uc003tlc.2_Silent_p.P820P|NPC1L1_uc011kbw.1_Silent_p.P820P	p.P820P	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			9	2516	-			820			Cytoplasmic (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.2460G>T	CCDS5491.1																																																																																				0.647	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		51	120	1	0	5.47352e-35	0.00361	9.54826e-35	51	120				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658885	72658885	+	RNA	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:72658885G>A	ENST00000425256.1	-	0	1026									GTF2I repeat domain containing 2 pseudogene 1																		ggccctcctggtctatcttgc	0.398																																							uc003txs.1		NA																	0					0						c.(97-99)GAC>GAT		RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta;																																						401375							g.chr7:72658885G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658885G>A						FKBP6_uc003twz.2_Intron	p.D33D	NR_002164						13	1027	-									Silent	SNP	ENST00000425256.1	37	c.99C>T																																																																																					0.398	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		92	154	0	0	0	0.00361	0	92	154				
C7orf62	219557	broad.mit.edu	37	7	88423561	88423561	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:88423561C>A	ENST00000297203.2	-	2	881	c.696G>T	c.(694-696)atG>atT	p.M232I	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	232								p.M232I(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTCTATTATACATGTTTATAA	0.433																																							uc003ujv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(694-696)ATG>ATT		hypothetical protein LOC219557							102.0	98.0	99.0					7																	88423561		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423561C>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.696G>T	7.37:g.88423561C>A	ENSP00000297203:p.Met232Ile					ZNF804B_uc011khi.1_Intron	p.M232I	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	878	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		232						Missense_Mutation	SNP	ENST00000297203.2	37	c.696G>T	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889210	0.33348	.	.	ENSG00000164645	ENST00000297203	T	0.15139	2.45	6.17	6.17	0.99709	.	0.130375	0.64402	D	0.000001	T	0.31949	0.0813	L	0.41824	1.3	0.39448	D	0.967357	D	0.71674	0.998	D	0.78314	0.991	T	0.01185	-1.1425	10	0.18710	T	0.47	1.2173	16.3795	0.83443	0.0:1.0:0.0:0.0	.	232	Q8TBZ9	CG062_HUMAN	I	232	ENSP00000297203:M232I	ENSP00000297203:M232I	M	-	3	0	C7orf62	88261497	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	1.835000	0.39181	2.941000	0.99782	0.655000	0.94253	ATG		0.433	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		21	54	1	0	4.63292e-17	0.008871	6.92732e-17	21	54				
DYNC1I1	1780	broad.mit.edu	37	7	95439773	95439773	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:95439773G>A	ENST00000324972.6	+	3	371	c.178G>A	c.(178-180)Gag>Aag	p.E60K	DYNC1I1_ENST00000437599.1_Missense_Mutation_p.E60K|DYNC1I1_ENST00000413338.1_Missense_Mutation_p.E60K|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.E60K|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.E60K|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.E60K|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.E60K	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	60	Interaction with DCTN1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.E60K(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACGAGAGACAGAGGCTTTGCT	0.453																																							uc003uoc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(178-180)GAG>AAG		dynein, cytoplasmic 1, intermediate chain 1							81.0	81.0	81.0					7																	95439773		2202	4300	6502	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95439773G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.178G>A	7.37:g.95439773G>A	ENSP00000320130:p.Glu60Lys					DYNC1I1_uc003uod.3_Missense_Mutation_p.E60K|DYNC1I1_uc003uob.2_Missense_Mutation_p.E60K|DYNC1I1_uc003uoe.3_Missense_Mutation_p.E60K|DYNC1I1_uc010lfl.2_Missense_Mutation_p.E66K	p.E60K	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		3	455	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		60			Interaction with DCTN1 (By similarity).		B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.178G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	36	5.765431	0.96906	.	.	ENSG00000158560	ENST00000447467;ENST00000524053;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000413338;ENST00000518089;ENST00000457059	T;T;T;T;T;T;T	0.75589	-0.87;2.24;-0.95;-0.87;-0.74;2.24;-0.87	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.82995	0.5158	M	0.68317	2.08	0.80722	D	1	B;P;P;P;P	0.52170	0.365;0.951;0.951;0.919;0.917	B;P;P;P;P	0.57548	0.115;0.823;0.823;0.67;0.713	D	0.85017	0.0909	10	0.72032	D	0.01	-0.4467	18.3447	0.90317	0.0:0.0:1.0:0.0	.	60;60;60;60;60	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	K	60	ENSP00000392337:E60K;ENSP00000320130:E60K;ENSP00000438377:E60K;ENSP00000398118:E60K;ENSP00000352348:E60K;ENSP00000428273:E60K;ENSP00000412444:E60K	ENSP00000320130:E60K	E	+	1	0	DYNC1I1	95277709	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	9.445000	0.97587	2.629000	0.89072	0.655000	0.94253	GAG		0.453	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		11	27	0	0	0	0.00245	0	11	27				
NAT16	375607	broad.mit.edu	37	7	100816680	100816680	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:100816680T>A	ENST00000300303.2	-	3	672	c.434A>T	c.(433-435)cAg>cTg	p.Q145L	NAT16_ENST00000455377.1_Missense_Mutation_p.Q145L	NM_198571.2	NP_940973.2	Q8N8M0	NAT16_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	145	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.						N-acetyltransferase activity (GO:0008080)	p.Q145L(1)									CTTGACCAGCTGCGAGCAGAA	0.701																																							uc003uxy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(433-435)CAG>CTG		hypothetical protein LOC375607							27.0	30.0	29.0					7																	100816680		2201	4297	6498	SO:0001583	missense	375607						N-acetyltransferase activity	g.chr7:100816680T>A	AK096556	CCDS5713.1	7q22.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000167011	ENSG00000167011			22030	protein-coding gene	gene with protein product		615783	"""chromosome 7 open reading frame 52"""	C7orf52			Standard	NM_198571		Approved	FLJ39237	uc003uxy.2	Q8N8M0	OTTHUMG00000157110	ENST00000300303.2:c.434A>T	7.37:g.100816680T>A	ENSP00000300303:p.Gln145Leu					C7orf52_uc003uxz.1_Missense_Mutation_p.Q145L	p.Q145L	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN			3	673	-	Lung NSC(181;0.168)|all_lung(186;0.215)		145			N-acetyltransferase.		B3KRS2|Q8NDR1	Missense_Mutation	SNP	ENST00000300303.2	37	c.434A>T	CCDS5713.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.200570	0.58126	.	.	ENSG00000167011	ENST00000300303;ENST00000455377;ENST00000444446	T;T;T	0.45276	0.9;0.9;0.9	3.89	3.89	0.44902	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.180740	0.35235	U	0.003359	T	0.49830	0.1580	L	0.44542	1.39	0.80722	D	1	D	0.65815	0.995	P	0.61003	0.882	T	0.49688	-0.8913	10	0.52906	T	0.07	.	10.9374	0.47253	0.0:0.0:0.0:1.0	.	145	Q8N8M0	CG052_HUMAN	L	145	ENSP00000300303:Q145L;ENSP00000395125:Q145L;ENSP00000391769:Q145L	ENSP00000300303:Q145L	Q	-	2	0	C7orf52	100603400	0.990000	0.36364	0.968000	0.41197	0.995000	0.86356	2.064000	0.41432	1.748000	0.51833	0.379000	0.24179	CAG		0.701	NAT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347465.1	NM_198571		13	39	0	0	0	0.00499	0	13	39				
PPP1R3A	5506	broad.mit.edu	37	7	113518009	113518009	+	Silent	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:113518009A>G	ENST00000284601.3	-	4	3206	c.3138T>C	c.(3136-3138)tcT>tcC	p.S1046S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1046					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.S1046S(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAGAGCTGTCAGATTCCTTTT	0.378																																							uc010ljy.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(3136-3138)TCT>TCC		protein phosphatase 1, regulatory (inhibitor)							187.0	187.0	187.0					7																	113518009		2203	4299	6502	SO:0001819	synonymous_variant	5506				glycogen metabolic process	integral to membrane		g.chr7:113518009A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3138T>C	7.37:g.113518009A>G							p.S1046S	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	3169	-			1046					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	ENST00000284601.3	37	c.3138T>C	CCDS5759.1																																																																																				0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		8	391	0	0	0	0.004482	0	8	391				
FLNC	2318	broad.mit.edu	37	7	128496821	128496821	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:128496821C>G	ENST00000325888.8	+	45	7668	c.7407C>G	c.(7405-7407)atC>atG	p.I2469M	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.I2436M	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2469	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.I2469M(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCGCTTCATCCCCCACGAGA	0.602																																							uc003vnz.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(7405-7407)ATC>ATG		gamma filamin isoform a							90.0	95.0	93.0					7																	128496821		2200	4296	6496	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128496821C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7407C>G	7.37:g.128496821C>G	ENSP00000327145:p.Ile2469Met					FLNC_uc003voa.3_Missense_Mutation_p.I2436M	p.I2469M	NM_001458	NP_001449	Q14315	FLNC_HUMAN			45	7616	+			2469			Filamin 22.|Interaction with INPPL1.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.7407C>G	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183275	0.57800	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.88818	-2.43;-2.43	5.52	4.64	0.57946	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.117593	0.53938	D	0.000041	D	0.87997	0.6319	L	0.31578	0.945	0.45330	D	0.998329	P;P	0.52316	0.952;0.566	P;B	0.59056	0.851;0.292	D	0.85879	0.1421	10	0.36615	T	0.2	.	10.0553	0.42241	0.0:0.8505:0.0:0.1495	.	2436;2469	Q14315-2;Q14315	.;FLNC_HUMAN	M	2469;2436	ENSP00000327145:I2469M;ENSP00000344002:I2436M	ENSP00000327145:I2469M	I	+	3	3	FLNC	128284057	0.983000	0.35010	1.000000	0.80357	0.993000	0.82548	0.276000	0.18716	2.592000	0.87571	0.557000	0.71058	ATC		0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			27	41	0	0	0	0.008361	0	27	41				
KEL	3792	broad.mit.edu	37	7	142636692	142636692	+	IGR	SNP	G	G	A	rs374513218		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:142636692G>A	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.G17S	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.G17S(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGCAGGGGGCGGCCAAAGGCA	0.647																																							uc003wca.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(49-51)GGC>AGC		hypothetical protein LOC135927		G	SER/GLY	0,4406		0,0,2203	40.0	43.0	42.0		49	-0.7	0.0	7		42	1,8599	1.2+/-3.3	0,1,4299	yes	missense	C7orf34	NM_178829.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		17/148	142636692	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	135927					extracellular region		g.chr7:142636692G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142636692G>A							p.G17S	NM_178829	NP_849151	Q96L11	CG034_HUMAN			1	90	+	Melanoma(164;0.059)		Error:Variant_position_missing_in_Q96L11_after_alignment					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.49G>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	g	11.67	1.708947	0.30322	0.0	1.16E-4	ENSG00000165131	ENST00000409607	.	.	.	3.88	-0.691	0.11305	.	.	.	.	.	T	0.19644	0.0472	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32481	-0.9905	5	0.14656	T	0.56	.	6.8493	0.24006	0.5136:0.0:0.4864:0.0	.	.	.	.	S	17	.	ENSP00000386450:G17S	G	+	1	0	C7orf34	142346814	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.372000	0.20467	-0.268000	0.09312	-0.270000	0.10280	GGC		0.647	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		17	45	0	0	0	0.002299	0	17	45				
RHEB	6009	broad.mit.edu	37	7	151188085	151188085	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr7:151188085G>A	ENST00000262187.5	-	2	480	c.68C>T	c.(67-69)aCg>aTg	p.T23M	RHEB_ENST00000472642.1_De_novo_Start_InFrame|RHEB_ENST00000496004.1_De_novo_Start_InFrame	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	23					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.T23M(1)|p.T23K(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AAATTGAATCGTCAATGAGGA	0.318																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)	Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)	uc003wkh.1		NA																	2	Substitution - Missense(2)		lung(1)|breast(1)	large_intestine(1)|lung(1)	2						c.(67-69)ACG>ATG		Ras homolog enriched in brain precursor							89.0	88.0	88.0					7																	151188085		2203	4300	6503	SO:0001583	missense	6009				cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding	g.chr7:151188085G>A	D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"""Ras homolog enriched in brain 2"""	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.68C>T	7.37:g.151188085G>A	ENSP00000262187:p.Thr23Met						p.T23M	NM_005614	NP_005605	Q15382	RHEB_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)	2	481	-			23					B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	ENST00000262187.5	37	c.68C>T	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053354	0.55218	.	.	ENSG00000106615	ENST00000262187	T	0.77358	-1.09	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.72598	0.3480	L	0.45285	1.41	0.80722	D	1	P	0.50443	0.935	B	0.40940	0.344	T	0.77943	-0.2398	10	0.87932	D	0	.	16.6965	0.85337	0.0:0.0:1.0:0.0	.	23	Q15382	RHEB_HUMAN	M	23	ENSP00000262187:T23M	ENSP00000262187:T23M	T	-	2	0	RHEB	150819018	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	8.660000	0.91121	2.537000	0.85549	0.655000	0.94253	ACG		0.318	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2	NM_005614		9	83	0	0	0	0.006214	0	9	83				
CSMD1	64478	broad.mit.edu	37	8	3072116	3072116	+	Nonsense_Mutation	SNP	A	A	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:3072116A>T	ENST00000520002.1	-	31	5328	c.4773T>A	c.(4771-4773)tgT>tgA	p.C1591*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.C1591*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.C1590*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.C1591*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.C1590*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.C1590*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.C1591*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1591	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.C1590*(1)|p.C1319*(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCCAGAGTCACACTGGTAGG	0.507																																							uc011kwk.1		NA																	2	Substitution - Nonsense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(4771-4773)TGT>TGA		CUB and Sushi multiple domains 1 precursor							94.0	92.0	93.0					8																	3072116		2040	4186	6226	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:3072116A>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4773T>A	8.37:g.3072116A>T	ENSP00000430733:p.Cys1591*					CSMD1_uc011kwj.1_Nonsense_Mutation_p.C983*|CSMD1_uc003wqe.2_Nonsense_Mutation_p.C747*	p.C1591*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	30	5163	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1591			Extracellular (Potential).|Sushi 9.		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.4773T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	47|47	12.995009|12.995009	0.99711|0.99711	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	.|.	.|.	.|.	5.53|5.53	0.53|0.53	0.17102|0.17102	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	.|.	9.2798|9.2798	0.37722|0.37722	0.7277:0.0:0.2723:0.0|0.7277:0.0:0.2723:0.0	.|.	.|.	.|.	.|.	X|R	1591;1591;1453;1590;1590;1590|1071	.|.	ENSP00000320445:C1453X|.	C|X	-|-	3|1	2|0	CSMD1|CSMD1	3059523|3059523	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.819000|0.819000	0.46315|0.46315	2.480000|2.480000	0.45206|0.45206	-0.127000|-0.127000	0.11661|0.11661	0.482000|0.482000	0.46254|0.46254	TGT|TGA		0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	2	0	0	0	0.004672	0	3	2				
DEFA6	1671	broad.mit.edu	37	8	6783434	6783434	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:6783434G>T	ENST00000297436.2	-	1	164	c.124C>A	c.(124-126)Cgt>Agt	p.R42S	GS1-24F4.3_ENST00000526235.1_RNA	NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	42					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)		p.R42S(1)		lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTTGCCCCACGCTGCTCCTGG	0.557																																							uc003wqt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(124-126)CGT>AGT		defensin, alpha 6 preproprotein							70.0	57.0	62.0					8																	6783434		2203	4300	6503	SO:0001583	missense	1671				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6783434G>T	M98331	CCDS5960.1	8p23.1	2007-02-20			ENSG00000164822	ENSG00000164822		"""Defensins, alpha"""	2765	protein-coding gene	gene with protein product		600471				8417977	Standard	NM_001926		Approved	HD-6, DEF6	uc003wqt.3	Q01524	OTTHUMG00000149984	ENST00000297436.2:c.124C>A	8.37:g.6783434G>T	ENSP00000297436:p.Arg42Ser						p.R42S	NM_001926	NP_001917	Q01524	DEF6_HUMAN	STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	165	-			42					Q6EZF9	Missense_Mutation	SNP	ENST00000297436.2	37	c.124C>A	CCDS5960.1	.	.	.	.	.	.	.	.	.	.	.	2.562	-0.301724	0.05495	.	.	ENSG00000164822	ENST00000297436	T	0.28666	1.6	1.86	-0.105	0.13601	Defensin propeptide (1);	1.705410	0.03662	N	0.242725	T	0.27313	0.0670	L	0.28274	0.84	0.09310	N	1	D	0.52996	0.957	P	0.49502	0.613	T	0.10894	-1.0610	10	0.44086	T	0.13	.	2.9905	0.05981	0.1899:0.2942:0.5159:0.0	.	42	Q01524	DEF6_HUMAN	S	42	ENSP00000297436:R42S	ENSP00000297436:R42S	R	-	1	0	DEFA6	6770844	0.011000	0.17503	0.000000	0.03702	0.013000	0.08279	1.093000	0.30939	-0.034000	0.13713	0.561000	0.74099	CGT		0.557	DEFA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206739.1	NM_001926		8	47	1	0	1.12685e-05	0.004482	1.33521e-05	8	47				
FAM167A	83648	broad.mit.edu	37	8	11301689	11301689	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:11301689C>A	ENST00000528897.1	-	2	851	c.232G>T	c.(232-234)Ggg>Tgg	p.G78W	FAM167A_ENST00000284486.4_Missense_Mutation_p.G78W|FAM167A_ENST00000534308.1_Missense_Mutation_p.G78W|FAM167A_ENST00000531564.1_5'Flank			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	78								p.G78W(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						GGCTCCTGCCCCCCACGCTCC	0.692																																							uc010lry.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(232-234)GGG>TGG		hypothetical protein LOC83648							23.0	28.0	26.0					8																	11301689		2197	4293	6490	SO:0001583	missense	83648							g.chr8:11301689C>A		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000528897.1:c.232G>T	8.37:g.11301689C>A	ENSP00000436655:p.Gly78Trp					FAM167A_uc003wtw.2_Missense_Mutation_p.G78W	p.G78W	NM_053279	NP_444509	Q96KS9	F167A_HUMAN			2	852	-			78					A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	Missense_Mutation	SNP	ENST00000528897.1	37	c.232G>T	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149491	0.37923	.	.	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897;ENST00000531804	T;T;T;T	0.09350	2.99;2.99;2.99;2.99	4.42	0.316	0.15857	.	0.455332	0.19017	N	0.124937	T	0.09949	0.0244	L	0.34521	1.04	0.09310	N	0.999995	D	0.60575	0.988	P	0.46975	0.533	T	0.21211	-1.0252	10	0.44086	T	0.13	-1.1034	9.5133	0.39091	0.0:0.5149:0.4073:0.0778	.	78	Q96KS9	F167A_HUMAN	W	78	ENSP00000284486:G78W;ENSP00000432232:G78W;ENSP00000436655:G78W;ENSP00000431951:G78W	ENSP00000284486:G78W	G	-	1	0	FAM167A	11339099	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.042000	0.12063	-0.123000	0.11745	0.655000	0.94253	GGG		0.692	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1			8	37	1	0	0.00010058	0.001368	0.000114015	8	37				
RAB11FIP1	80223	broad.mit.edu	37	8	37729987	37729987	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:37729987C>A	ENST00000330843.4	-	4	2345	c.2333G>T	c.(2332-2334)gGa>gTa	p.G778V	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	778					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)		p.G778V(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GACTGATGCTCCCATGGGAAG	0.547																																							uc003xkm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2332-2334)GGA>GTA		RAB11 family interacting protein 1 isoform 3							76.0	81.0	80.0					8																	37729987		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37729987C>A	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2333G>T	8.37:g.37729987C>A	ENSP00000331342:p.Gly778Val					RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.G107V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.G107V|RAB11FIP1_uc003xkp.1_Intron	p.G778V	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		4	2377	-		Lung NSC(58;0.118)|all_lung(54;0.195)	778					J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.2333G>T	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672496	0.47781	.	.	ENSG00000156675	ENST00000330843	T	0.12879	2.64	5.49	-0.269	0.12930	.	0.850870	0.09905	N	0.740589	T	0.09468	0.0233	L	0.27053	0.805	0.19575	N	0.999964	P;B	0.35242	0.492;0.099	B;B	0.38562	0.276;0.033	T	0.36841	-0.9731	10	0.33141	T	0.24	-2.4516	4.7038	0.12839	0.1497:0.4837:0.0:0.3665	.	107;778	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	V	778	ENSP00000331342:G778V	ENSP00000331342:G778V	G	-	2	0	RAB11FIP1	37849145	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.680000	0.05197	0.004000	0.14682	0.655000	0.94253	GGA		0.547	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151		14	113	1	0	3.27435e-08	0.00245	4.11259e-08	14	113				
PRKDC	5591	broad.mit.edu	37	8	48690420	48690420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:48690420C>A	ENST00000314191.2	-	85	11922	c.11866G>T	c.(11866-11868)Gag>Tag	p.E3956*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E3925*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3957	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.E3957*(1)|p.E3956*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGCATCAACTCAGGGACTGGC	0.458								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(11869-11871)GAG>TAG	NHEJ	protein kinase, DNA-activated, catalytic							68.0	68.0	68.0					8																	48690420		1977	4160	6137	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48690420C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11866G>T	8.37:g.48690420C>A	ENSP00000313420:p.Glu3956*					PRKDC_uc003xqj.2_Nonsense_Mutation_p.E3926*|PRKDC_uc011ldh.1_Intron	p.E3957*	NM_006904	NP_008835	P78527	PRKDC_HUMAN			85	11926	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3957			PI3K/PI4K.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.11869G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.947405|3.947405	0.73672|0.73672	.|.	.|.	ENSG00000253729|ENSG00000253729	ENST00000314191;ENST00000338368|ENST00000536429	.|.	.|.	.|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.052736|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|.	D|.	0|.	.|.	19.5825|19.5825	0.95473|0.95473	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	3956;3925|32	.|.	ENSP00000313420:E3956X|.	E|X	-|-	1|2	0|2	PRKDC|PRKDC	48852973|48852973	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.531000|0.531000	0.34715|0.34715	7.346000|7.346000	0.79347|0.79347	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.458	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		20	66	1	0	2.94398e-08	0.007413	3.72746e-08	20	66				
PRKDC	5591	broad.mit.edu	37	8	48762047	48762047	+	Silent	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:48762047C>G	ENST00000314191.2	-	54	7076	c.7020G>C	c.(7018-7020)ctG>ctC	p.L2340L	PRKDC_ENST00000338368.3_Silent_p.L2340L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2341					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.L2340L(1)|p.L2341L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCAGTTCACACAGAGACTCCT	0.358								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(7021-7023)CTG>CTC	NHEJ	protein kinase, DNA-activated, catalytic							115.0	104.0	107.0					8																	48762047		1864	4118	5982	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48762047C>G		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7020G>C	8.37:g.48762047C>G						PRKDC_uc003xqj.2_Silent_p.L2341L|PRKDC_uc011ldh.1_Intron	p.L2341L	NM_006904	NP_008835	P78527	PRKDC_HUMAN			54	7080	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2341					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.7023G>C																																																																																					0.358	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		10	98	0	0	0	0.008291	0	10	98				
PCMTD1	115294	broad.mit.edu	37	8	52733224	52733224	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:52733224G>A	ENST00000360540.5	-	7	1167	c.761C>T	c.(760-762)aCa>aTa	p.T254I	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.T178I|PCMTD1_ENST00000522514.1_Missense_Mutation_p.T254I	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	254						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.T254I(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ATTTCTAAGTGTGCGTCGAAT	0.378																																							uc003xqx.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(760-762)ACA>ATA		protein-L-isoaspartate (D-aspartate)							69.0	72.0	71.0					8																	52733224		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733224G>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.761C>T	8.37:g.52733224G>A	ENSP00000353739:p.Thr254Ile					PCMTD1_uc011ldm.1_Missense_Mutation_p.T124I|PCMTD1_uc003xqw.3_Missense_Mutation_p.T254I|PCMTD1_uc011ldn.1_Missense_Mutation_p.T66I|PCMTD1_uc010lya.2_Missense_Mutation_p.T178I	p.T254I	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1102	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	254					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.761C>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016231	0.75161	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.45276	1.5;0.9;1.5	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.60650	0.2285	L	0.54323	1.7	0.80722	D	1	D;D;B	0.89917	0.999;1.0;0.012	D;D;B	0.87578	0.996;0.998;0.005	T	0.49418	-0.8942	10	0.18710	T	0.47	-27.7783	19.9832	0.97338	0.0:0.0:1.0:0.0	.	124;178;254	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	I	254;178;254	ENSP00000353739:T254I;ENSP00000444026:T178I;ENSP00000428099:T254I	ENSP00000353739:T254I	T	-	2	0	PCMTD1	52895777	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.903000	0.92573	2.722000	0.93159	0.655000	0.94253	ACA		0.378	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		5	179	0	0	0	0.000602	0	5	179				
ST18	9705	broad.mit.edu	37	8	53028861	53028861	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:53028861G>A	ENST00000276480.7	-	25	3660	c.2977C>T	c.(2977-2979)Ctt>Ttt	p.L993F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	993					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L993F(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGTCAGCAAGGCTTGAAATG	0.458																																							uc003xqz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2977-2979)CTT>TTT		suppression of tumorigenicity 18							213.0	161.0	179.0					8																	53028861		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53028861G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2977C>T	8.37:g.53028861G>A	ENSP00000276480:p.Leu993Phe					ST18_uc011ldq.1_Missense_Mutation_p.L640F|ST18_uc011ldr.1_Missense_Mutation_p.L958F|ST18_uc011lds.1_Missense_Mutation_p.L898F|ST18_uc003xra.2_Missense_Mutation_p.L993F	p.L993F	NM_014682	NP_055497	O60284	ST18_HUMAN			20	3133	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	993					Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2977C>T	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875824	0.91664	.	.	ENSG00000147488	ENST00000276480	T	0.58940	0.3	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78635	-0.2127	10	0.87932	D	0	-13.9139	19.5907	0.95509	0.0:0.0:1.0:0.0	.	993	O60284	ST18_HUMAN	F	993	ENSP00000276480:L993F	ENSP00000276480:L993F	L	-	1	0	ST18	53191414	1.000000	0.71417	0.687000	0.30102	0.722000	0.41435	7.948000	0.87774	2.632000	0.89209	0.655000	0.94253	CTT		0.458	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1			36	177	0	0	0	0.003271	0	36	177				
VPS13B	157680	broad.mit.edu	37	8	100844746	100844746	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:100844746G>T	ENST00000358544.2	+	52	9666	c.9555G>T	c.(9553-9555)atG>atT	p.M3185I	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.M3160I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3185					protein transport (GO:0015031)			p.M3185I(1)|p.M3160I(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACAGATCATGCTGGGCTTTT	0.542																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(9553-9555)ATG>ATT		vacuolar protein sorting 13B isoform 5							80.0	64.0	69.0					8																	100844746		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100844746G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9555G>T	8.37:g.100844746G>T	ENSP00000351346:p.Met3185Ile					VPS13B_uc003yiw.2_Missense_Mutation_p.M3160I	p.M3185I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		52	9666	+	Breast(36;3.73e-07)		3185					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.9555G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899192	0.33535	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.66815	-0.23;-0.23	5.75	4.87	0.63330	.	0.186702	0.34362	N	0.004021	T	0.48822	0.1521	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40739	-0.9547	10	0.46703	T	0.11	.	16.1455	0.81563	0.0:0.0:0.8654:0.1346	.	3160;3185	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	I	3160;3185	ENSP00000349685:M3160I;ENSP00000351346:M3185I	ENSP00000349685:M3160I	M	+	3	0	VPS13B	100913922	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	2.938000	0.48987	1.396000	0.46663	0.650000	0.86243	ATG		0.542	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		7	73	1	0	8.12818e-05	0.001984	9.24728e-05	7	73				
RIMS2	9699	broad.mit.edu	37	8	104897845	104897845	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:104897845G>T	ENST00000436393.2	+	2	593	c.352G>T	c.(352-354)Gcc>Tcc	p.A118S	RIMS2_ENST00000262231.10_Missense_Mutation_p.A148S|RIMS2_ENST00000406091.3_Missense_Mutation_p.A340S|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000507740.1_Missense_Mutation_p.A148S			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	371	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.A148S(2)|p.A376S(1)|p.A118S(1)|p.A340S(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCCGAATTTGGCCCGTTATCC	0.458										HNSCC(12;0.0054)																													uc003yls.2		NA																	5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(352-354)GCC>TCC		regulating synaptic membrane exocytosis 2							88.0	88.0	88.0					8																	104897845		2009	4178	6187	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104897845G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.352G>T	8.37:g.104897845G>T	ENSP00000390665:p.Ala118Ser	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.A340S|RIMS2_uc003ylw.2_Missense_Mutation_p.A148S|RIMS2_uc003ylq.2_Missense_Mutation_p.A148S|RIMS2_uc003ylr.2_Missense_Mutation_p.A148S	p.A118S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	593	+			371					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.352G>T		.	.	.	.	.	.	.	.	.	.	G	29.0	4.969008	0.92855	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.32	5.32	0.75619	.	.	.	.	.	T	0.70527	0.3234	M	0.76574	2.34	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.992;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.975;0.989;0.999;0.997;0.998	T	0.73820	-0.3862	9	0.72032	D	0.01	.	18.9862	0.92771	0.0:0.0:1.0:0.0	.	371;118;148;148;340	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	S	340;371;340;371;148;148;148;148;118	ENSP00000427018:A340S;ENSP00000384892:A340S;ENSP00000425205:A148S;ENSP00000262231:A148S;ENSP00000423559:A148S;ENSP00000386228:A148S;ENSP00000390665:A118S	ENSP00000262231:A148S	A	+	1	0	RIMS2	104967021	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.615000	0.98356	2.479000	0.83701	0.467000	0.42956	GCC		0.458	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		22	30	1	0	6.44725e-10	0.002299	8.47045e-10	22	30				
ANGPT1	284	broad.mit.edu	37	8	108264187	108264187	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:108264187C>G	ENST00000520734.1	-	8	1078	c.793G>C	c.(793-795)Gga>Cga	p.G265R	ANGPT1_ENST00000520052.1_Missense_Mutation_p.G264R|ANGPT1_ENST00000518386.1_5'UTR|AP000428.1_ENST00000390706.1_RNA			Q15389	ANGP1_HUMAN	angiopoietin 1	465					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.G465R(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGGTTTTGTCCCGCAGTATAG	0.408																																							uc003ymn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(1393-1395)GGA>CGA		angiopoietin 1 precursor							195.0	184.0	188.0					8																	108264187		2203	4300	6503	SO:0001583	missense	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108264187C>G	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.793G>C	8.37:g.108264187C>G	ENSP00000430750:p.Gly265Arg					ANGPT1_uc011lhv.1_Missense_Mutation_p.G265R|ANGPT1_uc003ymo.2_Missense_Mutation_p.G464R	p.G465R	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		9	1861	-	Breast(1;5.06e-08)		465			Fibrinogen C-terminal.		Q5HYA0	Missense_Mutation	SNP	ENST00000520734.1	37	c.1393G>C		.	.	.	.	.	.	.	.	.	.	C	16.26	3.071689	0.55646	.	.	ENSG00000154188	ENST00000517746;ENST00000297450;ENST00000520734;ENST00000520052	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.9	5.9	0.94986	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.73860	0.3641	L	0.33093	0.98	0.80722	D	1	P;P	0.37141	0.584;0.584	B;B	0.41036	0.346;0.346	T	0.68655	-0.5351	10	0.23302	T	0.38	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	465;465	Q5HYA0;Q15389	.;ANGP1_HUMAN	R	465;464;265;264	ENSP00000428340:G465R;ENSP00000297450:G464R;ENSP00000430750:G265R;ENSP00000429349:G264R	ENSP00000297450:G464R	G	-	1	0	ANGPT1	108333363	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.808000	0.96608	0.650000	0.86243	GGA		0.408	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		53	300	0	0	0	0.00361	0	53	300				
ADCY8	114	broad.mit.edu	37	8	131916288	131916288	+	Splice_Site	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:131916288C>T	ENST00000286355.5	-	7	3733	c.1641G>A	c.(1639-1641)ggG>ggA	p.G547G	ADCY8_ENST00000377928.3_Splice_Site_p.G547G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	547					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.G547G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGTGAATCCTCCTGTGTGTAG	0.458										HNSCC(32;0.087)																													uc003ytd.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1639-1641)GGG>GGA		adenylate cyclase 8							145.0	139.0	141.0					8																	131916288		2203	4300	6503	SO:0001630	splice_region_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131916288C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1641-1G>A	8.37:g.131916288C>T		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.G547G	p.G547G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		7	1897	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		547			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.1641G>A	CCDS6363.1																																																																																				0.458	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		Silent	78	213	0	0	0	0.00361	0	78	213				
WISP1	8840	broad.mit.edu	37	8	134232987	134232987	+	Silent	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr8:134232987G>T	ENST00000250160.6	+	3	619	c.513G>T	c.(511-513)cgG>cgT	p.R171R	WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	171	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.R171R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCACCCGCGGCGCGTGAGCA	0.667																																							uc003yub.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|kidney(1)	2						c.(511-513)CGG>CGT		WNT1 inducible signaling pathway protein 1							38.0	38.0	38.0					8																	134232987		2202	4300	6502	SO:0001819	synonymous_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134232987G>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.513G>T	8.37:g.134232987G>T						WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	p.R171R	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		3	589	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		171			VWFC.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	c.513G>T	CCDS6371.1																																																																																				0.667	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		18	64	1	0	1.2644e-06	0.010504	1.53885e-06	18	64				
DMRT1	1761	broad.mit.edu	37	9	893993	893993	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:893993C>A	ENST00000382276.3	+	3	769	c.620C>A	c.(619-621)tCc>tAc	p.S207Y	DMRT1_ENST00000569227.1_Missense_Mutation_p.S49Y	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	207					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S207Y(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GTTTCAGACTCCACCTACTAC	0.488											OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003zgv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(619-621)TCC>TAC		doublesex and mab-3 related transcription factor							109.0	89.0	96.0					9																	893993		2203	4300	6503	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:893993C>A	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.620C>A	9.37:g.893993C>A	ENSP00000371711:p.Ser207Tyr		OREG0019071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	591	DMRT1_uc003zgu.1_Missense_Mutation_p.S207Y	p.S207Y	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	3	769	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	207					B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.620C>A	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754731	0.69648	.	.	ENSG00000137090	ENST00000382276	T	0.25414	1.8	5.92	5.92	0.95590	.	0.363363	0.31697	N	0.007211	T	0.47911	0.1471	M	0.73217	2.22	0.45183	D	0.998194	D;P	0.53885	0.963;0.913	P;P	0.55871	0.521;0.786	T	0.27773	-1.0064	10	0.46703	T	0.11	.	20.3657	0.98878	0.0:1.0:0.0:0.0	.	207;207	Q9Y5R6;Q6T1H9	DMRT1_HUMAN;.	Y	207	ENSP00000371711:S207Y	ENSP00000371711:S207Y	S	+	2	0	DMRT1	883993	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.576000	0.67437	2.820000	0.97059	0.650000	0.86243	TCC		0.488	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		46	85	1	0	5.73435e-26	0.00361	9.52691e-26	46	85				
PTPRD	5789	broad.mit.edu	37	9	8492918	8492918	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:8492918G>T	ENST00000381196.4	-	24	2954	c.2411C>A	c.(2410-2412)aCa>aAa	p.T804K	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000360074.4_Missense_Mutation_p.T791K|PTPRD_ENST00000356435.5_Missense_Mutation_p.T804K|PTPRD_ENST00000540109.1_Missense_Mutation_p.T804K|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.T782K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	804	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T804K(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCTTTGGTTGTGTAGGCTGT	0.468										TSP Lung(15;0.13)																													uc003zkk.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(2410-2412)ACA>AAA		protein tyrosine phosphatase, receptor type, D							234.0	191.0	205.0					9																	8492918		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8492918G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2411C>A	9.37:g.8492918G>T	ENSP00000370593:p.Thr804Lys	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.T795K|PTPRD_uc003zkm.2_Missense_Mutation_p.T791K|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	p.T804K	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	26	3122	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	804			Fibronectin type-III 5.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2411C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438086	0.83885	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.58210	0.35;0.35;0.35;2.1;0.35	5.42	4.51	0.55191	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051057	0.85682	N	0.000000	T	0.81163	0.4765	H	0.96662	3.86	0.58432	D	0.999999	D;P;D	0.89917	1.0;0.477;0.992	D;P;D	0.70487	0.969;0.451;0.939	D	0.87991	0.2749	9	.	.	.	.	15.4695	0.75429	0.0:0.0:0.8601:0.1399	.	791;804;804	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	K	804;804;791;782;804	ENSP00000370593:T804K;ENSP00000348812:T804K;ENSP00000353187:T791K;ENSP00000351293:T782K;ENSP00000438164:T804K	.	T	-	2	0	PTPRD	8482918	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.420000	0.97426	1.254000	0.44035	0.484000	0.47621	ACA		0.468	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			16	191	1	0	2.4624e-09	0.008871	3.20827e-09	16	191				
FREM1	158326	broad.mit.edu	37	9	14746969	14746969	+	Silent	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:14746969C>A	ENST00000380880.3	-	34	6873	c.6090G>T	c.(6088-6090)ctG>ctT	p.L2030L	FREM1_ENST00000380894.1_Silent_p.L566L|FREM1_ENST00000422223.2_Silent_p.L2030L|FREM1_ENST00000380881.4_Silent_p.L2031L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2030					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.L2031L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCACTGATACAGCTTCTGGA	0.493																																							uc003zlm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(6088-6090)CTG>CTT		FRAS1 related extracellular matrix 1 precursor							51.0	48.0	49.0					9																	14746969		1924	4128	6052	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14746969C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.6090G>T	9.37:g.14746969C>A						FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Silent_p.L566L	p.L2030L	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	34	6680	-			2030					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.6090G>T	CCDS47952.1																																																																																				0.493	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		10	36	1	0	1.58986e-06	0.008291	1.92007e-06	10	36				
IFNA4	3441	broad.mit.edu	37	9	21187444	21187444	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:21187444G>A	ENST00000421715.1	-	1	154	c.87C>T	c.(85-87)acC>acT	p.T29T		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	29					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.T29T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCAGGCTGTGGGTCTGAGGCA	0.512																																					NSCLC(154;890 1986 23660 27800 51138)	NSCLC(154;890 1986 23660 27800 51138)	uc003zon.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(85-87)ACC>ACT		interferon, alpha 4 precursor							36.0	39.0	38.0					9																	21187444		2201	4277	6478	SO:0001819	synonymous_variant	3441				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21187444G>A		CCDS6498.1	9p22	2010-08-24			ENSG00000236637	ENSG00000236637		"""Interferons"""	5425	protein-coding gene	gene with protein product		147564				1385305	Standard	NM_021068		Approved	MGC142200, IFN-alpha4a	uc003zon.2	P05014	OTTHUMG00000019660	ENST00000421715.1:c.87C>T	9.37:g.21187444G>A							p.T29T	NM_021068	NP_066546	P05014	IFNA4_HUMAN		GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	155	-			29					P13358|Q14CS4|Q5VV15	Silent	SNP	ENST00000421715.1	37	c.87C>T	CCDS6498.1																																																																																				0.512	IFNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051889.1	NM_021068		5	118	0	0	0	0.000602	0	5	118				
ELAVL2	1993	broad.mit.edu	37	9	23701601	23701601	+	Splice_Site	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:23701601G>A	ENST00000397312.2	-	5	763	c.489C>T	c.(487-489)ggC>ggT	p.G163G	ELAVL2_ENST00000223951.6_Splice_Site_p.G163G|ELAVL2_ENST00000380117.1_Splice_Site_p.G163G|ELAVL2_ENST00000380110.4_Splice_Site_p.G192G|ELAVL2_ENST00000544538.1_Splice_Site_p.G163G	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	163	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G163G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCCTTGATATGCCTATGGTAG	0.438																																							uc003zpu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(487-489)GGC>GGT		ELAV (embryonic lethal, abnormal vision,							109.0	111.0	110.0					9																	23701601		2203	4300	6503	SO:0001630	splice_region_variant	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23701601G>A	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.488-1C>T	9.37:g.23701601G>A						ELAVL2_uc003zps.2_Silent_p.G163G|ELAVL2_uc003zpt.2_Silent_p.G163G|ELAVL2_uc003zpv.2_Silent_p.G163G|ELAVL2_uc003zpw.2_Silent_p.G163G	p.G163G	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	5	764	-			163			RRM 2.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	ENST00000397312.2	37	c.489C>T	CCDS6515.1																																																																																				0.438	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	Silent	36	152	0	0	0	0.007835	0	36	152				
C9orf131	138724	broad.mit.edu	37	9	35045097	35045097	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:35045097G>T	ENST00000312292.5	+	2	2518	c.2471G>T	c.(2470-2472)gGa>gTa	p.G824V	C9orf131_ENST00000421362.2_Missense_Mutation_p.G776V|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.G751V	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	824										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GACTTCTGGGGACTCCCTTCC	0.552																																							uc003zvw.2		NA																	0					0						c.(2470-2472)GGA>GTA		hypothetical protein LOC138724 isoform A							299.0	316.0	310.0					9																	35045097		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35045097G>T	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2471G>T	9.37:g.35045097G>T	ENSP00000308279:p.Gly824Val					C9orf131_uc003zvu.2_Missense_Mutation_p.G776V|C9orf131_uc003zvv.2_Missense_Mutation_p.G751V|C9orf131_uc003zvx.2_Missense_Mutation_p.G789V	p.G824V	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2500	+	all_epithelial(49;0.22)		824					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2471G>T	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988362	0.35036	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.15256	2.45;2.44;2.45	3.99	-0.664	0.11406	.	1.095490	0.07062	N	0.833852	T	0.18800	0.0451	L	0.55481	1.735	0.19575	N	0.999964	P;P;D;D	0.58268	0.764;0.95;0.982;0.982	B;P;P;P	0.47573	0.226;0.55;0.55;0.55	T	0.21381	-1.0247	10	0.56958	D	0.05	0.805	2.7081	0.05167	0.4211:0.0:0.3686:0.2103	.	299;824;751;776	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	V	776;751;824;299	ENSP00000393683:G776V;ENSP00000346472:G751V;ENSP00000308279:G824V	ENSP00000308279:G824V	G	+	2	0	C9orf131	35035097	0.000000	0.05858	0.005000	0.12908	0.164000	0.22412	0.056000	0.14256	0.068000	0.16574	0.563000	0.77884	GGA		0.552	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		169	680	1	0	2.53601e-94	0.00361	4.57648e-94	169	680				
PRUNE2	158471	broad.mit.edu	37	9	79267519	79267519	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:79267519C>A	ENST00000376718.3	-	11	8560	c.8437G>T	c.(8437-8439)Gac>Tac	p.D2813Y	PRUNE2_ENST00000223609.6_Missense_Mutation_p.D77Y|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000428286.1_Missense_Mutation_p.D2454Y|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D62Y	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2813					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.D2813Y(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCACTTTGGTCCAGAGAAAGA	0.413																																							uc010mpk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(8437-8439)GAC>TAC		prune homolog 2							219.0	204.0	208.0					9																	79267519		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79267519C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8437G>T	9.37:g.79267519C>A	ENSP00000365908:p.Asp2813Tyr					PRUNE2_uc011lsk.1_Missense_Mutation_p.D62Y|PRUNE2_uc011lsl.1_Missense_Mutation_p.D77Y|PRUNE2_uc011lsm.1_Missense_Mutation_p.D77Y|PRUNE2_uc004akj.3_Missense_Mutation_p.D266Y|PRUNE2_uc010mpl.1_Missense_Mutation_p.D266Y	p.D2813Y	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			11	8561	-			2813					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.8437G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.822618|4.822618	0.90873|0.90873	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000223609;ENST00000422033|ENST00000426088	T;T;T;T;T|.	0.61158|.	0.42;0.13;0.17;0.43;0.46|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82788|0.82788	0.5113|0.5113	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.997;1.0|.	D;D;D;D;D|.	0.97110|.	0.998;0.993;0.993;0.975;1.0|.	T|T	0.82926|0.82926	-0.0215|-0.0215	10|5	0.72032|.	D|.	0.01|.	-28.1728|-28.1728	19.9659|19.9659	0.97266|0.97266	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	77;77;62;2813;2813|.	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3|.	.;.;.;.;PRUN2_HUMAN|.	Y|V	77;2813;2454;31;62;77;2812|2134	ENSP00000365907:D77Y;ENSP00000365908:D2813Y;ENSP00000397425:D2454Y;ENSP00000393843:D62Y;ENSP00000223609:D77Y|.	ENSP00000223609:D77Y|.	D|G	-|-	1|2	0|0	PRUNE2|PRUNE2	78457339|78457339	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.374000|7.374000	0.79633|0.79633	2.802000|2.802000	0.96397|0.96397	0.650000|0.650000	0.86243|0.86243	GAC|GGA		0.413	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		26	219	1	0	1.1804e-14	0.003954	1.69244e-14	26	219				
TLR4	7099	broad.mit.edu	37	9	120476416	120476416	+	Silent	SNP	T	T	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:120476416T>A	ENST00000355622.6	+	3	2111	c.2010T>A	c.(2008-2010)ggT>ggA	p.G670G	TLR4_ENST00000394487.4_Silent_p.G630G|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	670					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G670G(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ATGGTAGAGGTGAAAACATCT	0.428																																							uc004bjz.2		NA																	2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(2008-2010)GGT>GGA		toll-like receptor 4 precursor							127.0	116.0	120.0					9																	120476416		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476416T>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2010T>A	9.37:g.120476416T>A						TLR4_uc004bka.2_Silent_p.G630G|TLR4_uc004bkb.2_Silent_p.G470G	p.G670G	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2301	+			670			Cytoplasmic (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.2010T>A	CCDS6818.1																																																																																				0.428	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		10	68	0	0	0	0.008291	0	10	68				
TLR4	7099	broad.mit.edu	37	9	120476829	120476830	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:120476829_120476830GG>TT	ENST00000355622.6	+	3	2524_2525	c.2423_2424GG>TT	c.(2422-2424)tGG>tTT	p.W808F	TLR4_ENST00000394487.4_Missense_Mutation_p.W768F|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	808	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.W808F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CACATCTTCTGGAGACGACTCA	0.54																																							uc004bjz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(2422-2424)TGG>TTT		toll-like receptor 4 precursor																																				SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476829_120476830GG>TT	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	Exception_encountered	9.37:g.120476829_120476830delinsTT	ENSP00000363089:p.Trp808Phe					TLR4_uc004bka.2_Missense_Mutation_p.W768F|TLR4_uc004bkb.2_Missense_Mutation_p.W608F	p.W808F	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2714_2715	+			808			Cytoplasmic (Potential).|TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	DNP	ENST00000355622.6	37	c.2423_2424GG>TT	CCDS6818.1																																																																																				0.540	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		15	155	0	0	0	0.004672	0	15	155				
CDK5RAP2	55755	broad.mit.edu	37	9	123177335	123177335	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:123177335C>A	ENST00000349780.4	-	28	4459	c.4280G>T	c.(4279-4281)gGa>gTa	p.G1427V	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.G1395V|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.G1386V|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.G1427V	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1427					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.G1427V(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAATTCAGATCCTTGCCGTTC	0.408																																							uc004bkf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(4279-4281)GGA>GTA		CDK5 regulatory subunit associated protein 2							190.0	167.0	175.0					9																	123177335		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123177335C>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4280G>T	9.37:g.123177335C>A	ENSP00000343818:p.Gly1427Val					CDK5RAP2_uc010mvi.2_Missense_Mutation_p.G436V|CDK5RAP2_uc004bke.2_Missense_Mutation_p.G712V|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.G1427V|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.G692V|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.G692V|CDK5RAP2_uc011lya.1_Missense_Mutation_p.G692V|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.G1197V|CDK5RAP2_uc004bki.2_Missense_Mutation_p.G1194V	p.G1427V	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			28	4461	-			1427					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.4280G>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420280	0.25552	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.82	1.94	0.25998	.	0.395578	0.22428	N	0.060186	T	0.44561	0.1299	M	0.72118	2.19	0.36170	D	0.848719	D;P;P;D;P;D	0.89917	0.997;0.875;0.717;1.0;0.802;0.998	D;B;B;D;B;D	0.97110	0.946;0.341;0.352;1.0;0.277;0.971	T	0.52495	-0.8568	10	0.13470	T	0.59	.	5.9529	0.19257	0.1271:0.5957:0.0:0.2772	.	437;1196;1395;1427;1427;821	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	V	1395;1386;1427;1427;821;437;1199	ENSP00000354065:G1395V;ENSP00000352258:G1386V;ENSP00000343818:G1427V;ENSP00000353317:G1427V;ENSP00000400395:G821V;ENSP00000409941:G437V	ENSP00000341695:G1199V	G	-	2	0	CDK5RAP2	122217156	0.292000	0.24362	0.220000	0.23810	0.615000	0.37417	0.817000	0.27281	0.395000	0.25257	-0.150000	0.13652	GGA		0.408	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		21	147	1	0	1.87028e-06	0.001882	2.25007e-06	21	147				
PPP1R26	9858	broad.mit.edu	37	9	138376778	138376778	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr9:138376778T>C	ENST00000356818.2	+	4	971	c.422T>C	c.(421-423)cTg>cCg	p.L141P	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.L141P|PPP1R26_ENST00000604351.1_Missense_Mutation_p.L141P|PPP1R26_ENST00000605286.1_Missense_Mutation_p.L141P|PPP1R26_ENST00000401470.3_Missense_Mutation_p.L141P	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	141					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.L141P(1)									CAGGAGTACCTGAAGGCAAAG	0.627																																							uc004cfr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(421-423)CTG>CCG		1A6/DRIM (down-regulated in metastasis)							38.0	45.0	43.0					9																	138376778		2199	4297	6496	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138376778T>C	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.422T>C	9.37:g.138376778T>C	ENSP00000349274:p.Leu141Pro						p.L141P	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	971	+			141					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.422T>C	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	T	17.38	3.374855	0.61735	.	.	ENSG00000196422	ENST00000356818	T	0.52754	0.65	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000014	T	0.68449	0.3002	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72921	-0.4145	10	0.87932	D	0	-18.1397	14.4696	0.67506	0.0:0.0:0.0:1.0	.	141	Q5T8A7	PPR26_HUMAN	P	141	ENSP00000349274:L141P	ENSP00000349274:L141P	L	+	2	0	KIAA0649	137516599	1.000000	0.71417	0.980000	0.43619	0.142000	0.21351	5.441000	0.66569	2.004000	0.58718	0.459000	0.35465	CTG		0.627	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		9	74	0	0	0	0.001855	0	9	74				
OFD1	8481	broad.mit.edu	37	X	13753440	13753440	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chrX:13753440A>G	ENST00000340096.6	+	2	413	c.86A>G	c.(85-87)gAt>gGt	p.D29G	OFD1_ENST00000398395.3_Missense_Mutation_p.D29G|TRAPPC2_ENST00000380579.1_5'Flank|TRAPPC2_ENST00000519885.1_5'Flank|OFD1_ENST00000380550.3_Missense_Mutation_p.D29G|OFD1_ENST00000490265.1_3'UTR|TRAPPC2_ENST00000359680.5_5'Flank|OFD1_ENST00000380567.1_5'UTR|TRAPPC2_ENST00000358231.5_5'Flank|TRAPPC2_ENST00000458511.2_5'Flank|TRAPPC2_ENST00000453655.2_5'Flank	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	29					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)	p.D29G(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACGTTTAAGGATCGGGGTATA	0.403																																							uc004cvp.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(85-87)GAT>GGT		oral-facial-digital syndrome 1							159.0	125.0	136.0					X																	13753440		2203	4300	6503	SO:0001583	missense	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13753440A>G	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.86A>G	X.37:g.13753440A>G	ENSP00000344314:p.Asp29Gly					OFD1_uc004cvr.3_5'UTR|OFD1_uc011mil.1_5'UTR|OFD1_uc004cvq.3_5'UTR|OFD1_uc010nen.2_Missense_Mutation_p.D28G|OFD1_uc004cvs.3_RNA|OFD1_uc004cvu.3_Missense_Mutation_p.D28G|OFD1_uc004cvv.3_Missense_Mutation_p.D28G|TRAPPC2_uc010nek.1_5'Flank|TRAPPC2_uc010nel.1_5'Flank|TRAPPC2_uc010nem.1_5'Flank	p.D29G	NM_003611	NP_003602	O75665	OFD1_HUMAN			2	445	+			29					B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	ENST00000340096.6	37	c.86A>G	CCDS14157.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300567	0.81136	.	.	ENSG00000046651	ENST00000380550;ENST00000398395;ENST00000340096	D;D;D	0.96073	-3.85;-3.63;-3.9	5.12	5.12	0.69794	.	0.235064	0.48767	D	0.000177	D	0.96405	0.8827	M	0.72118	2.19	0.32249	N	0.57164	D;D;D	0.61080	0.989;0.981;0.989	P;P;P	0.60789	0.879;0.795;0.879	D	0.96827	0.9608	10	0.59425	D	0.04	-17.4536	9.4899	0.38953	0.912:0.0:0.088:0.0	.	29;29;29	A8K2T9;O75665-3;O75665	.;.;OFD1_HUMAN	G	29	ENSP00000369923:D29G;ENSP00000381432:D29G;ENSP00000344314:D29G	ENSP00000344314:D29G	D	+	2	0	OFD1	13663361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.484000	0.53201	1.699000	0.51192	0.441000	0.28932	GAT		0.403	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		40	34	0	0	0	0.003214	0	40	34				
YY2	404281	broad.mit.edu	37	X	21875364	21875364	+	Silent	SNP	C	C	G			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chrX:21875364C>G	ENST00000429584.2	+	1	1260	c.762C>G	c.(760-762)gtC>gtG	p.V254V	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	254	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V254V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCAAAACAGTCCCTTGCTCTT	0.502																																							uc011mjp.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(760-762)GTC>GTG		YY2 transcription factor							112.0	120.0	117.0					X																	21875364		2203	4300	6503	SO:0001819	synonymous_variant	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875364C>G	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.762C>G	X.37:g.21875364C>G						MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Silent_p.V472V|MBTPS2_uc004dab.2_Intron	p.V254V	NM_206923	NP_996806	O15391	TYY2_HUMAN			1	762	+			254			Mediates transcriptional repression.|C2H2-type 1.		B2RP10|Q6Q1S4	Silent	SNP	ENST00000429584.2	37	c.762C>G	CCDS14202.1																																																																																				0.502	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		80	72	0	0	0	0.00361	0	80	72				
DCAF12L1	139170	broad.mit.edu	37	X	125685797	125685797	+	Silent	SNP	C	C	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chrX:125685797C>T	ENST00000371126.1	-	1	1037	c.795G>A	c.(793-795)gtG>gtA	p.V265V		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	265								p.V265V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCAGGGCCCGCACCTTGCGGT	0.647																																							uc004eul.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(793-795)GTG>GTA		DDB1 and CUL4 associated factor 12-like 1							38.0	39.0	39.0					X																	125685797		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685797C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.795G>A	X.37:g.125685797C>T							p.V265V	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1046	-			265			WD 3.		Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.795G>A	CCDS14610.1																																																																																				0.647	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		18	13	0	0	0	0.001882	0	18	13				
ELF4	2000	broad.mit.edu	37	X	129206319	129206319	+	Silent	SNP	G	G	A			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chrX:129206319G>A	ENST00000308167.5	-	5	793	c.414C>T	c.(412-414)gcC>gcT	p.A138A	ELF4_ENST00000335997.7_Silent_p.A138A	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)									p.A138A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CGGGCTCAGAGGCAGGAAACA	0.577			T	ERG	AML																																		uc004evd.3		NA		Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(412-414)GCC>GCT		E74-like factor 4							117.0	111.0	113.0					X																	129206319		2203	4300	6503	SO:0001819	synonymous_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129206319G>A	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.414C>T	X.37:g.129206319G>A						ELF4_uc004eve.3_Silent_p.A138A	p.A138A	NM_001421	NP_001412	Q99607	ELF4_HUMAN			5	799	-			138			RUNX1-binding.			Silent	SNP	ENST00000308167.5	37	c.414C>T	CCDS14617.1																																																																																				0.577	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		25	73	0	0	0	0.005443	0	25	73				
IDS	3423	broad.mit.edu	37	X	148577945	148577945	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chrX:148577945T>C	ENST00000340855.6	-	6	1020	c.811A>G	c.(811-813)Agg>Ggg	p.R271G	IDS_ENST00000422081.2_Missense_Mutation_p.R60G|IDS_ENST00000370441.4_Missense_Mutation_p.R271G|IDS_ENST00000370443.4_Missense_Mutation_p.R271G|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000541269.1_Missense_Mutation_p.R60G	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	271					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)	p.R271G(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCCGTTGCCTGATGTCCATC	0.527																																							uc011mxe.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(811-813)AGG>GGG		iduronate-2-sulfatase isoform a precursor							183.0	146.0	158.0					X																	148577945		2203	4300	6503	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148577945T>C	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.811A>G	X.37:g.148577945T>C	ENSP00000339801:p.Arg271Gly					IDS_uc011mxf.1_Missense_Mutation_p.R181G|IDS_uc011mxg.1_Missense_Mutation_p.R60G|IDS_uc010nsu.1_Intron|IDS_uc004fcw.3_Missense_Mutation_p.R60G|IDS_uc011mxh.1_Missense_Mutation_p.R271G|IDS_uc011mxi.1_RNA	p.R271G	NM_000202	NP_000193	P22304	IDS_HUMAN			6	1009	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		271					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.811A>G	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	t	17.38	3.374639	0.61735	.	.	ENSG00000010404	ENST00000340855;ENST00000541269;ENST00000370441;ENST00000370443	D;D;D;D	0.99894	-7.58;-7.58;-7.58;-5.68	5.37	1.18	0.20946	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99819	0.9920	M	0.79926	2.475	0.58432	D	0.999999	D;P;P	0.56746	0.977;0.529;0.943	P;B;P	0.60609	0.877;0.33;0.854	D	0.97220	0.9877	10	0.72032	D	0.01	.	14.3296	0.66545	0.0:0.0:0.6099:0.3901	.	271;181;271	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	G	271;60;271;271	ENSP00000339801:R271G;ENSP00000441261:R60G;ENSP00000359470:R271G;ENSP00000359472:R271G	ENSP00000339801:R271G	R	-	1	2	IDS	148385850	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.829000	0.55760	0.242000	0.21303	-0.516000	0.04426	AGG		0.527	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			4	167	0	0	0	0.000602	0	4	167				
CYP4B1	1580	broad.mit.edu	37	1	47284377	47284378	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:47284377_47284378delTC	ENST00000271153.4	+	12	1463_1464	c.1427_1428delTC	c.(1426-1428)ttcfs	p.F476fs	CYP4B1_ENST00000371919.4_Frame_Shift_Del_p.F462fs|CYP4B1_ENST00000452782.2_Frame_Shift_Del_p.F314fs|CYP4B1_ENST00000371923.4_Frame_Shift_Del_p.F477fs			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	476					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CGCTTTGAGTTCTCTCTGGACC	0.564																																							uc001cqm.3		NA																	0				ovary(1)|skin(1)	2						c.(1426-1428)TTCfs		cytochrome P450, family 4, subfamily B,																																				SO:0001589	frameshift_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47284377_47284378delTC	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1427_1428delTC	1.37:g.47284381_47284382delTC	ENSP00000271153:p.Phe476fs					CYP4B1_uc001cqn.3_Frame_Shift_Del_p.F477fs|CYP4B1_uc009vym.2_Frame_Shift_Del_p.F462fs|CYP4B1_uc010omk.1_Frame_Shift_Del_p.F313fs	p.F476fs	NM_000779	NP_000770	P13584	CP4B1_HUMAN			12	1511_1512	+	Acute lymphoblastic leukemia(166;0.155)		476					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Frame_Shift_Del	DEL	ENST00000271153.4	37	c.1427_1428delTC	CCDS542.1																																																																																				0.564	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		27	184	NA	NA	NA	NA	NA	27	184	---	---	---	---
COG2	22796	broad.mit.edu	37	1	230804530	230804530	+	Splice_Site	DEL	G	G	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr1:230804530delG	ENST00000366669.4	+	6	709	c.594delG	c.(592-594)ccg>cc	p.P198fs	COG2_ENST00000534989.1_Splice_Site_p.P139fs|COG2_ENST00000366668.3_Splice_Site_p.P198fs|COG2_ENST00000535166.1_Splice_Site_p.P82fs	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	198					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AAGTAAGACCGGTAAGTGTTG	0.368																																							uc001htw.2		NA																	0					0						c.(592-594)CCGfs		component of oligomeric golgi complex 2 isoform							121.0	114.0	117.0					1																	230804530		2203	4300	6503	SO:0001630	splice_region_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230804530delG	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.594+1G>-	1.37:g.230804530delG						COG2_uc001htx.2_Frame_Shift_Del_p.P198fs|COG2_uc010pwc.1_Frame_Shift_Del_p.P71fs	p.P198fs	NM_007357	NP_031383	Q14746	COG2_HUMAN			6	745	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	198					Q86U99	Frame_Shift_Del	DEL	ENST00000366669.4	37	c.594delG	CCDS1584.1																																																																																				0.368	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357	Frame_Shift_Del	38	212	NA	NA	NA	NA	NA	38	212	---	---	---	---
AMER2	219287	broad.mit.edu	37	13	25744101	25744101	+	Frame_Shift_Del	DEL	C	C	-	rs147191374		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr13:25744101delC	ENST00000515384.1	-	1	2324	c.1657delG	c.(1657-1659)gacfs	p.D553fs	AMER2_ENST00000357816.2_Frame_Shift_Del_p.D434fs|AMER2_ENST00000381853.3_Frame_Shift_Del_p.D434fs|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	553					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										TAGAGCGCGTCCCCGCTGTAG	0.637																																							uc001uqb.2		NA																	0				ovary(2)|large_intestine(1)|lung(1)	4						c.(1657-1659)GACfs		hypothetical protein LOC219287 isoform 1							65.0	62.0	63.0					13																	25744101		2203	4300	6503	SO:0001589	frameshift_variant	219287							g.chr13:25744101delC	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1657delG	13.37:g.25744101delC	ENSP00000426528:p.Asp553fs					FAM123A_uc001uqa.2_Frame_Shift_Del_p.D434fs|FAM123A_uc001uqc.2_Frame_Shift_Del_p.D434fs	p.D553fs	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1757	-		Lung SC(185;0.0225)|Breast(139;0.0602)	553					Q5RL80|Q5VX56|Q8N593|Q96NN5	Frame_Shift_Del	DEL	ENST00000515384.1	37	c.1657delG	CCDS53859.1																																																																																				0.637	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		34	62	NA	NA	NA	NA	NA	34	62	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68250146	68250146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr14:68250146delC	ENST00000347230.4	-	21	3861	c.3723delG	c.(3721-3723)cggfs	p.R1241fs	ZFYVE26_ENST00000555452.1_Frame_Shift_Del_p.R1241fs	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1241					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTGGCTTTGCCGGGATGAGC	0.597																																							uc001xka.2		NA																	0				ovary(9)|breast(2)	11						c.(3721-3723)CGGfs		zinc finger, FYVE domain containing 26							82.0	76.0	78.0					14																	68250146		2203	4300	6503	SO:0001589	frameshift_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68250146delC	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3723delG	14.37:g.68250146delC	ENSP00000251119:p.Arg1241fs					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Frame_Shift_Del_p.R1241fs	p.R1241fs	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	21	3862	-			1241					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Frame_Shift_Del	DEL	ENST00000347230.4	37	c.3723delG	CCDS9788.1																																																																																				0.597	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		43	170	NA	NA	NA	NA	NA	43	170	---	---	---	---
SBNO2	22904	broad.mit.edu	37	19	1123583	1123597	+	In_Frame_Del	DEL	GCCTCCTCCTCCTCA	GCCTCCTCCTCCTCA	-	rs546112565		TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	GCCTCCTCCTCCTCA	GCCTCCTCCTCCTCA	-	-	GCCTCCTCCTCCTCA	GCCTCCTCCTCCTCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr19:1123583_1123597delGCCTCCTCCTCCTCA	ENST00000361757.3	-	7	801_815	c.564_578delTGAGGAGGAGGAGGC	c.(562-579)gctgaggaggaggaggcg>gcg	p.188_193AEEEEA>A	SBNO2_ENST00000587024.1_In_Frame_Del_p.188_193AEEEEA>A|SBNO2_ENST00000438103.2_In_Frame_Del_p.131_136AEEEEA>A	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	188	Poly-Glu.				bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGctcctccgcctcctcctcctcagcctcgtcct	0.674																																							uc002lrk.3		NA																	0					0						c.(562-579)GCTGAGGAGGAGGAGGCG>GCG		strawberry notch homolog 2 isoform 1																																				SO:0001651	inframe_deletion	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1123583_1123597delGCCTCCTCCTCCTCA	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.564_578delTGAGGAGGAGGAGGC	19.37:g.1123583_1123597delGCCTCCTCCTCCTCA	ENSP00000354733:p.Ala188_Glu192del					SBNO2_uc002lrj.3_In_Frame_Del_p.131_136AEEEEA>A|SBNO2_uc010dse.2_In_Frame_Del_p.181_186AEEEEA>A|SBNO2_uc010xgj.1_In_Frame_Del_p.131_136AEEEEA>A|SBNO2_uc010dsf.2_In_Frame_Del_p.131_136AEEEEA>A	p.188_193AEEEEA>A	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	802_816	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	188_193			Poly-Glu.		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	In_Frame_Del	DEL	ENST00000361757.3	37	c.564_578delTGAGGAGGAGGAGGC	CCDS45894.1																																																																																				0.674	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		12	24	NA	NA	NA	NA	NA	12	24	---	---	---	---
SIRPB1	10326	broad.mit.edu	37	20	1559269	1559269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr20:1559269delC	ENST00000381605.4	-	2	212	c.148delG	c.(148-150)gccfs	p.A50fs	SIRPB1_ENST00000381603.3_Frame_Shift_Del_p.A50fs|SIRPB1_ENST00000262929.5_Frame_Shift_Del_p.A49fs|RP4-576H24.4_ENST00000564763.1_Frame_Shift_Del_p.A50fs	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	50	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CGCAGAGTGGCCGACTCTCCA	0.532																																							uc010gai.2		NA																	0				ovary(1)	1						c.(148-150)GCCfs		signal-regulatory protein beta 1 isoform 1							105.0	95.0	99.0					20																	1559269		2196	4237	6433	SO:0001589	frameshift_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1559269delC	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.148delG	20.37:g.1559269delC	ENSP00000371018:p.Ala50fs					SIRPB1_uc002wfk.3_Frame_Shift_Del_p.A50fs	p.A50fs	NM_006065	NP_006056	O00241	SIRB1_HUMAN			2	247	-			50			Extracellular (Potential).|Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Frame_Shift_Del	DEL	ENST00000381605.4	37	c.148delG	CCDS13019.1																																																																																				0.532	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		34	126	NA	NA	NA	NA	NA	34	126	---	---	---	---
KLHL18	23276	broad.mit.edu	37	3	47374692	47374692	+	Frame_Shift_Del	DEL	A	A	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:47374692delA	ENST00000232766.5	+	5	666	c.646delA	c.(646-648)aggfs	p.R216fs	KLHL18_ENST00000455924.2_Frame_Shift_Del_p.R104fs	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	216	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CCGGGAGCAGAGGGGTCCCTA	0.592																																							uc003crd.2		NA																	0					0						c.(646-648)AGGfs		kelch-like 18							94.0	92.0	93.0					3																	47374692		2203	4300	6503	SO:0001589	frameshift_variant	23276							g.chr3:47374692delA	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.646delA	3.37:g.47374692delA	ENSP00000232766:p.Arg216fs					KLHL18_uc003crc.2_Frame_Shift_Del_p.R216fs|KLHL18_uc011bav.1_Frame_Shift_Del_p.R104fs|KLHL18_uc010hjq.1_Frame_Shift_Del_p.R67fs	p.R216fs	NM_025010	NP_079286	O94889	KLH18_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)	5	772	+		Acute lymphoblastic leukemia(5;0.164)	216			BACK.		A8K612|Q7Z3E8|Q8N125	Frame_Shift_Del	DEL	ENST00000232766.5	37	c.646delA	CCDS33749.1																																																																																				0.592	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344493.1	NM_025010		32	78	NA	NA	NA	NA	NA	32	78	---	---	---	---
HES1	3280	broad.mit.edu	37	3	193855908	193855908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr3:193855908delT	ENST00000232424.3	+	4	965	c.729delT	c.(727-729)cctfs	p.P243fs		NM_005524.3	NP_005515.1	P30042	ES1_HUMAN	hes family bHLH transcription factor 1	0						mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		ACAGCGGCCCTGTCATCCCCG	0.652																																							uc003ftq.1		NA																	0				ovary(1)|lung(1)	2						c.(727-729)CCTfs		hairy and enhancer of split 1							28.0	31.0	30.0					3																	193855908		2201	4294	6495	SO:0001589	frameshift_variant	3280				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr3:193855908delT	L19314	CCDS3305.1	3q28-q29	2013-10-17	2013-10-17	2003-01-10	ENSG00000114315	ENSG00000114315		"""Basic helix-loop-helix proteins"""	5192	protein-coding gene	gene with protein product		139605	"""hairy homolog (Drosophila)"", ""hairy and enhancer of split 1, (Drosophila)"""	HRY		8020957	Standard	NM_005524		Approved	FLJ20408, HES-1, Hes1, bHLHb39	uc003ftq.2	Q14469	OTTHUMG00000155984	ENST00000232424.3:c.729delT	3.37:g.193855908delT	ENSP00000232424:p.Pro243fs						p.P243fs	NM_005524	NP_005515	Q14469	HES1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)	4	965	+	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		243			Pro-rich.		A6NFJ6|A6NJY7|O00650|O00660|O15011|O15012|P55346|P78474|Q92505|Q92507	Frame_Shift_Del	DEL	ENST00000232424.3	37	c.729delT	CCDS3305.1																																																																																				0.652	HES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342632.1			18	37	NA	NA	NA	NA	NA	18	37	---	---	---	---
CABS1	85438	broad.mit.edu	37	4	71200872	71200872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr4:71200872delC	ENST00000273936.5	+	1	190	c.116delC	c.(115-117)acafs	p.T40fs		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	40					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAATCAGAAACAACTATTACT	0.378																																							uc003hff.2		NA																	0					0						c.(115-117)ACAfs		testis development protein NYD-SP26							96.0	99.0	98.0					4																	71200872		2203	4299	6502	SO:0001589	frameshift_variant	85438					flagellum	calcium ion binding	g.chr4:71200872delC	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.116delC	4.37:g.71200872delC	ENSP00000273936:p.Thr40fs						p.T39fs	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	202	+		all_hematologic(202;0.196)	39					B2RCB5|Q86UE0|Q96M17	Frame_Shift_Del	DEL	ENST00000273936.5	37	c.116delC	CCDS3539.1																																																																																				0.378	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		31	122	NA	NA	NA	NA	NA	31	122	---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75993856	75993857	+	Frame_Shift_Ins	INS	-	-	T			TCGA-73-4659-01A-01D-1265-08	TCGA-73-4659-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	13989aec-b1a3-47c2-bc8e-ccf55f8e0c11	92d579df-9e7a-4898-8d31-7f6702e1da76	g.chr5:75993856_75993857insT	ENST00000274364.6	+	33	4548_4549	c.4251_4252insT	c.(4252-4254)ttgfs	p.L1418fs	IQGAP2_ENST00000502745.1_Frame_Shift_Ins_p.L914fs|IQGAP2_ENST00000396234.3_Frame_Shift_Ins_p.L914fs|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Frame_Shift_Ins_p.L920fs	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1418					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAAAAGCTGAATTGGCAAAACT	0.337																																							uc003kek.2		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(4249-4254)GAATTGfs		IQ motif containing GTPase activating protein 2																																				SO:0001589	frameshift_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75993856_75993857insT	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4253dupT	5.37:g.75993858_75993858dupT	ENSP00000274364:p.Leu1418fs					IQGAP2_uc011csv.1_Frame_Shift_Ins_p.E913fs|IQGAP2_uc003kel.2_Frame_Shift_Ins_p.E913fs|IQGAP2_uc010izw.1_Frame_Shift_Ins_p.E118fs	p.E1417fs	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	33	4473_4474	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1417_1418					A8K4V1|B7Z8A4|J3KR91	Frame_Shift_Ins	INS	ENST00000274364.6	37	c.4251_4252insT	CCDS34188.1																																																																																				0.337	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		8	55	NA	NA	NA	NA	NA	8	55	---	---	---	---
