#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_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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RER1	11079	broad.mit.edu	37	1	2327276	2327276	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:2327276C>T	ENST00000605895.1	+	2	180	c.47C>T	c.(46-48)tCg>tTg	p.S16L	RER1_ENST00000488353.1_Missense_Mutation_p.S16L|RER1_ENST00000378512.1_Missense_Mutation_p.S16L|RER1_ENST00000378518.1_Missense_Mutation_p.S16L|RER1_ENST00000378513.3_Missense_Mutation_p.S16L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	16					positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GGGAAACCTTCGGTGGTGTAC	0.413																																						uc001aje.1		NA																	0					0						c.(46-48)TCG>TTG		RER1 retention in endoplasmic reticulum 1							105.0	107.0	106.0					1																	2327276		1824	4085	5909	SO:0001583	missense	11079				retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane		g.chr1:2327276C>T	AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"""RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"""			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.47C>T	1.37:g.2327276C>T	ENSP00000475168:p.Ser16Leu					RER1_uc001ajf.1_Missense_Mutation_p.S16L	p.S16L	NM_007033	NP_008964	O15258	RER1_HUMAN		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)	2	238	+	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	16					O95322	Missense_Mutation	SNP	ENST00000605895.1	37	c.47C>T	CCDS41232.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689329	0.88735	.	.	ENSG00000157916	ENST00000378518;ENST00000306256;ENST00000434662;ENST00000378513;ENST00000378512;ENST00000443438	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.67832	0.2935	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68765	0.96;0.915	T	0.71017	-0.4714	9	0.59425	D	0.04	.	16.5758	0.84637	0.0:1.0:0.0:0.0	.	16;16	Q5T091;O15258	.;RER1_HUMAN	L	16	.	ENSP00000302088:S16L	S	+	2	0	RER1	2317136	1.000000	0.71417	0.429000	0.26710	0.699000	0.40488	6.991000	0.76232	2.125000	0.65367	0.655000	0.94253	TCG		0.413	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2			14	60	0	0	0	0	14	60				
PADI1	29943	broad.mit.edu	37	1	17552556	17552556	+	Silent	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:17552556G>C	ENST00000375471.4	+	6	647	c.555G>C	c.(553-555)ctG>ctC	p.L185L		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	185					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CAATGCTGCTGAGCTGCAATG	0.567																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1		NA																	0					0						c.(553-555)CTG>CTC		peptidylarginine deiminase type I	L-Citrulline(DB00155)						120.0	107.0	111.0					1																	17552556		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17552556G>C	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.555G>C	1.37:g.17552556G>C							p.L185L	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	6	647	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	185					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.555G>C	CCDS178.1																																																																																				0.567	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		10	62	0	0	0	0	10	62				
ARID1A	8289	broad.mit.edu	37	1	27106940	27106940	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:27106940C>T	ENST00000324856.7	+	20	6922	c.6551C>T	c.(6550-6552)gCc>gTc	p.A2184V	ARID1A_ENST00000374152.2_Missense_Mutation_p.A1801V|ARID1A_ENST00000457599.2_Missense_Mutation_p.A1967V|ARID1A_ENST00000540690.1_Missense_Mutation_p.A512V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2184					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.A2182fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCTCGTGCCATTGCAGTG	0.632			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Deletion - Frameshift(1)		liver(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(6550-6552)GCC>GTC		AT rich interactive domain 1A isoform a							76.0	71.0	73.0					1																	27106940		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106940C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6551C>T	1.37:g.27106940C>T	ENSP00000320485:p.Ala2184Val					ARID1A_uc001bmu.1_Missense_Mutation_p.A1967V|ARID1A_uc001bmx.1_Missense_Mutation_p.A1030V|ARID1A_uc009vsm.1_Missense_Mutation_p.A512V|ARID1A_uc009vsn.1_Missense_Mutation_p.A426V	p.A2184V	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6924	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2184					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.6551C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465441	0.63513	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.01	5.01	0.66863	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	L	0.55990	1.75	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.52403	-0.8580	10	0.42905	T	0.14	-7.4426	18.8523	0.92237	0.0:1.0:0.0:0.0	.	1801;2184;1967	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	V	2184;1967;1801;512	ENSP00000320485:A2184V;ENSP00000387636:A1967V;ENSP00000363267:A1801V;ENSP00000442437:A512V	ENSP00000320485:A2184V	A	+	2	0	ARID1A	26979527	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.691000	0.68249	2.771000	0.95319	0.591000	0.81541	GCC		0.632	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		4	81	0	0	0	0	4	81				
PSMB2	5690	broad.mit.edu	37	1	36068938	36068938	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:36068938C>G	ENST00000373237.3	-	6	947	c.536G>C	c.(535-537)aGt>aCt	p.S179T		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	179					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)|Carfilzomib(DB08889)	GATTCGAACACTGAAGGTTGG	0.468																																						uc001bzf.1		NA																	0					0						c.(535-537)AGT>ACT		proteasome beta 2 subunit	Bortezomib(DB00188)						166.0	157.0	160.0					1																	36068938		2203	4300	6503	SO:0001583	missense	5690				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:36068938C>G	D26599	CCDS394.1, CCDS72755.1	1p34.2	2008-02-05			ENSG00000126067	ENSG00000126067		"""Proteasome (prosome, macropain) subunits"""	9539	protein-coding gene	gene with protein product		602175				7918633	Standard	NM_002794		Approved	HC7-I	uc001bzf.2	P49721	OTTHUMG00000004169	ENST00000373237.3:c.536G>C	1.37:g.36068938C>G	ENSP00000362334:p.Ser179Thr					PSMB2_uc001bzd.1_Intron|PSMB2_uc010ohz.1_Missense_Mutation_p.S154T|PSMB2_uc001bzg.1_Missense_Mutation_p.S179T	p.S179T	NM_002794	NP_002785	P49721	PSB2_HUMAN			6	646	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	179					D3DPS0|P31145|Q9BWZ9	Missense_Mutation	SNP	ENST00000373237.3	37	c.536G>C	CCDS394.1	.	.	.	.	.	.	.	.	.	.	C	9.191	1.026066	0.19512	.	.	ENSG00000126067	ENST00000373237	T	0.21932	1.98	6.02	5.06	0.68205	.	.	.	.	.	T	0.07638	0.0192	N	0.03050	-0.425	0.37982	D	0.933613	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.003	T	0.35251	-0.9796	9	0.13108	T	0.6	.	6.567	0.22517	0.0:0.5542:0.3406:0.1052	.	154;179	B7Z478;P49721	.;PSB2_HUMAN	T	179	ENSP00000362334:S179T	ENSP00000362334:S179T	S	-	2	0	PSMB2	35841525	0.062000	0.20869	1.000000	0.80357	0.991000	0.79684	0.228000	0.17814	2.865000	0.98341	0.655000	0.94253	AGT		0.468	PSMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012016.1	NM_002794		15	74	0	0	0	0	15	74				
KDM4A	9682	broad.mit.edu	37	1	44156525	44156525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:44156525G>T	ENST00000372396.3	+	14	2181	c.2047G>T	c.(2047-2049)Gga>Tga	p.G683*		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	683					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GGTTGAATTTGGAGGCTTTAA	0.478																																						uc001cjx.2		NA																	0				skin(1)	1						c.(2047-2049)GGA>TGA		jumonji domain containing 2A							186.0	184.0	185.0					1																	44156525		2203	4300	6503	SO:0001587	stop_gained	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44156525G>T	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2047G>T	1.37:g.44156525G>T	ENSP00000361473:p.Gly683*					KDM4A_uc010oki.1_Intron	p.G683*	NM_014663	NP_055478	O75164	KDM4A_HUMAN			14	2213	+			683					Q5VVB1	Nonsense_Mutation	SNP	ENST00000372396.3	37	c.2047G>T	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	39	7.333319	0.98217	.	.	ENSG00000066135	ENST00000372396	.	.	.	5.42	5.42	0.78866	.	0.433417	0.23254	N	0.050211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-16.385	19.2334	0.93849	0.0:0.0:1.0:0.0	.	.	.	.	X	683	.	ENSP00000361473:G683X	G	+	1	0	KDM4A	43929112	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	7.223000	0.78033	2.546000	0.85860	0.557000	0.71058	GGA		0.478	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		7	663	1	0	0.00621372	0.00753546	7	663				
CDKN2C	1031	broad.mit.edu	37	1	51439744	51439744	+	Silent	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:51439744G>C	ENST00000262662.1	+	4	2343	c.309G>C	c.(307-309)ggG>ggC	p.G103G	CDKN2C_ENST00000396148.1_Silent_p.G103G|CDKN2C_ENST00000371761.3_Silent_p.G103G			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	103					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|oligodendrocyte differentiation (GO:0048709)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		ATAATGAAGGGAACCTGCCCT	0.532			D		"""glioma, MM"""																																Melanoma(47;50 1155 4767 22863 47597)	uc001csf.2		NA		Rec	yes		1	1p32	1031	D	"""cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)"""			"""O, L"""			glioma|MM		12	Whole gene deletion(11)|Unknown(1)	p.0?(4)|p.?(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(5)|thyroid(1)	central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1)	17						c.(307-309)GGG>GGC		cyclin-dependent kinase inhibitor 2C							82.0	75.0	77.0					1																	51439744		2203	4300	6503	SO:0001819	synonymous_variant	1031	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr1:51439744G>C	BC000598	CCDS555.1	1p32.3	2013-01-10			ENSG00000123080	ENSG00000123080		"""Ankyrin repeat domain containing"""	1789	protein-coding gene	gene with protein product		603369				8001816, 9636670	Standard	NM_001262		Approved	INK4C, p18	uc001csg.3	P42773	OTTHUMG00000008046	ENST00000262662.1:c.309G>C	1.37:g.51439744G>C						CDKN2C_uc001csg.2_Silent_p.G103G	p.G103G	NM_001262	NP_001253	P42773	CDN2C_HUMAN		GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)	3	1525	+			103			ANK 4.		Q8TB83	Silent	SNP	ENST00000262662.1	37	c.309G>C	CCDS555.1																																																																																				0.532	CDKN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022058.1	NM_001262		6	59	0	0	0	0	6	59				
Unknown	0	broad.mit.edu	37	1	144619350	144619350	+	IGR	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:144619350A>G								RP11-640M9.2 (13459 upstream) : NBPF9 (192393 downstream)																							TTTATAGAAAATGACGAAGAT	0.423																																						uc009wig.1		NA																	0					0						c.(496-498)AAT>AGT		hypothetical protein LOC400818																																				SO:0001628	intergenic_variant	400818					cytoplasm		g.chr1:144619350A>G																													1.37:g.144619350A>G						NBPF9_uc010oxn.1_Intron|NBPF9_uc010oxo.1_Missense_Mutation_p.N166S|NBPF9_uc010oxr.1_Intron|NBPF9_uc010oxt.1_Intron|NBPF9_uc001ekg.1_Intron|NBPF9_uc001ekk.1_Intron|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Intron|NBPF9_uc010oye.1_Missense_Mutation_p.N97S|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Missense_Mutation_p.N97S|NBPF9_uc010oyg.1_Missense_Mutation_p.N131S|NBPF9_uc009wii.1_Intron	p.N166S	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			7	573	+			166			NBPF 1.			Missense_Mutation	SNP		37	c.497A>G																																																																																				0	0.423									137	253	0	0	0	0	137	253				
SV2A	9900	broad.mit.edu	37	1	149884914	149884914	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:149884914C>T	ENST00000369146.3	-	2	969	c.479G>A	c.(478-480)gGc>gAc	p.G160D	SV2A_ENST00000369145.1_Missense_Mutation_p.G160D	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	160					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)			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)	GCGGCCGTGGCCACACTCCCG	0.617																																						uc001etg.2		NA																	0				ovary(6)|pancreas(1)	7						c.(478-480)GGC>GAC		synaptic vesicle glycoprotein 2	Levetiracetam(DB01202)						105.0	105.0	105.0					1																	149884914		2203	4300	6503	SO:0001583	missense	9900				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr1:149884914C>T	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.479G>A	1.37:g.149884914C>T	ENSP00000358142:p.Gly160Asp					SV2A_uc001eth.2_Missense_Mutation_p.G160D	p.G160D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		2	970	-	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		160			Cytoplasmic (Potential).		D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Missense_Mutation	SNP	ENST00000369146.3	37	c.479G>A	CCDS940.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.649990	0.87958	.	.	ENSG00000159164	ENST00000369146;ENST00000369145	T;T	0.58652	0.32;0.32	4.88	4.88	0.63580	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82224	-0.0563	10	0.66056	D	0.02	-18.5318	17.2049	0.86915	0.0:1.0:0.0:0.0	.	160	Q7L0J3	SV2A_HUMAN	D	160	ENSP00000358142:G160D;ENSP00000358141:G160D	ENSP00000358141:G160D	G	-	2	0	SV2A	148151538	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	5.882000	0.69714	2.532000	0.85374	0.557000	0.71058	GGC		0.617	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033754.1			57	63	0	0	0	0	57	63				
TCHH	7062	broad.mit.edu	37	1	152085381	152085381	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:152085381G>A	ENST00000368804.1	-	2	311	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	104					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCCTTTCCGTCACACCGGG	0.527																																						uc001ezp.2		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(310-312)GAC>GAT		trichohyalin							135.0	132.0	133.0					1																	152085381		1943	4143	6086	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152085381G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.312C>T	1.37:g.152085381G>A						TCHH_uc009wne.1_Silent_p.D104D	p.D104D	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	312	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		104					Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.312C>T	CCDS41396.1																																																																																				0.527	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		135	97	0	0	0	0	135	97				
LCE2A	353139	broad.mit.edu	37	1	152671632	152671632	+	Silent	SNP	C	C	T	rs372077582		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:152671632C>T	ENST00000368779.1	+	2	306	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	85	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCAGAGCCCCGATTGTTGTG	0.657																																						uc001faj.2		NA																	0					0						c.(253-255)CCC>CCT		late cornified envelope 2A							41.0	49.0	47.0					1																	152671632		2203	4298	6501	SO:0001819	synonymous_variant	353139				keratinization			g.chr1:152671632C>T		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.255C>T	1.37:g.152671632C>T							p.P85P	NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	306	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		85			Cys-rich.		A4QMZ9	Silent	SNP	ENST00000368779.1	37	c.255C>T	CCDS1021.1																																																																																				0.657	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		120	82	0	0	0	0	120	82				
GON4L	54856	broad.mit.edu	37	1	155744943	155744943	+	Nonsense_Mutation	SNP	G	G	A	rs189957651		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:155744943G>A	ENST00000368331.1	-	17	2248	c.2200C>T	c.(2200-2202)Caa>Taa	p.Q734*	GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q734*|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q734*|GON4L_ENST00000437809.1_Nonsense_Mutation_p.Q734*	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	734					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATGGAGCTTTGAGCAAAGGTT	0.438																																						uc001flz.2		NA																	0				ovary(3)	3						c.(2200-2202)CAA>TAA		gon-4-like isoform a							97.0	96.0	96.0					1																	155744943		2203	4300	6503	SO:0001587	stop_gained	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155744943G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2200C>T	1.37:g.155744943G>A	ENSP00000357315:p.Gln734*					GON4L_uc001fly.1_Nonsense_Mutation_p.Q734*|GON4L_uc009wrh.1_Nonsense_Mutation_p.Q734*|GON4L_uc001fma.1_Nonsense_Mutation_p.Q734*|GON4L_uc001fmb.3_5'UTR|GON4L_uc001fmc.2_Nonsense_Mutation_p.Q734*|GON4L_uc001fmd.3_Nonsense_Mutation_p.Q734*|GON4L_uc009wri.2_Nonsense_Mutation_p.Q320*|GON4L_uc009wrj.1_Nonsense_Mutation_p.Q220*|GON4L_uc001fme.2_Nonsense_Mutation_p.Q562*	p.Q734*	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			17	2297	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		734					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Nonsense_Mutation	SNP	ENST00000368331.1	37	c.2200C>T		.	.	.	.	.	.	.	.	.	.	G	37	6.309193	0.97462	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	.	.	.	4.57	2.5	0.30297	.	0.286229	0.34386	N	0.004007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	8.7394	0.34547	0.0:0.2247:0.6222:0.1531	.	.	.	.	X	734;734;734;734;734;184	.	ENSP00000271883:Q734X	Q	-	1	0	GON4L	154011567	0.998000	0.40836	0.995000	0.50966	0.995000	0.86356	1.695000	0.37763	0.405000	0.25532	0.484000	0.47621	CAA		0.438	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		17	129	0	0	0	0	17	129				
FCRLA	84824	broad.mit.edu	37	1	161677051	161677051	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:161677051C>T	ENST00000236938.6	+	1	290	c.48C>T	c.(46-48)gtC>gtT	p.V16V	FCRLA_ENST00000367950.1_5'Flank|FCRLA_ENST00000294796.4_5'Flank|FCRLA_ENST00000540521.1_Silent_p.V16V|FCRLA_ENST00000546024.1_Silent_p.V16V|FCRLA_ENST00000367953.3_5'Flank|FCRLA_ENST00000367949.2_Silent_p.V16V|FCRLA_ENST00000350710.3_Silent_p.V16V|FCRLA_ENST00000540926.1_5'UTR|FCRLA_ENST00000349527.4_5'UTR|FCRLA_ENST00000309691.6_5'Flank|FCRLA_ENST00000367957.2_Silent_p.V16V|FCRLA_ENST00000367959.2_Silent_p.V16V	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	0					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TAAACACAGTCACCATGAAGC	0.463																																						uc001gbe.2		NA																	0					0						c.(46-48)GTC>GTT		Fc receptor-like and mucin-like 1							144.0	130.0	135.0					1																	161677051		2203	4300	6503	SO:0001819	synonymous_variant	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161677051C>T	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.48C>T	1.37:g.161677051C>T						FCRLA_uc001gbd.2_Silent_p.V16V|FCRLA_uc001gbf.2_Silent_p.V16V|FCRLA_uc001gbg.2_Silent_p.V16V|FCRLA_uc009wuo.2_Silent_p.V16V|FCRLA_uc009wup.2_Silent_p.V16V|FCRLA_uc009wuq.2_Silent_p.V16V	p.V16V	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		1	290	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		Error:Variant_position_missing_in_Q7L513_after_alignment					A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Silent	SNP	ENST00000236938.6	37	c.48C>T	CCDS30926.1																																																																																				0.463	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		6	33	0	0	0	0	6	33				
DUSP27	92235	broad.mit.edu	37	1	167088559	167088559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:167088559G>A	ENST00000361200.2	+	5	677	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	DUSP27_ENST00000443333.1_Missense_Mutation_p.G171S|DUSP27_ENST00000271385.5_Missense_Mutation_p.G171S			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	171					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCATGGCACCGGCGTTTACAC	0.567																																						uc001geb.1		NA																	0				ovary(3)	3						c.(511-513)GGC>AGC		dual specificity phosphatase 27							125.0	114.0	118.0					1																	167088559		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167088559G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.511G>A	1.37:g.167088559G>A	ENSP00000354483:p.Gly171Ser						p.G171S	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			4	511	+			171					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.511G>A	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453686	0.84209	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.59638	0.25;0.25;0.25	5.18	5.18	0.71444	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.120443	0.56097	D	0.000031	T	0.57036	0.2026	L	0.37561	1.115	0.50632	D	0.999887	D	0.89917	1.0	D	0.72338	0.977	T	0.60826	-0.7186	10	0.52906	T	0.07	-24.2341	12.085	0.53691	0.079:0.0:0.921:0.0	.	171	Q5VZP5	DUS27_HUMAN	S	171	ENSP00000354483:G171S;ENSP00000271385:G171S;ENSP00000404874:G171S	ENSP00000271385:G171S	G	+	1	0	DUSP27	165355183	1.000000	0.71417	0.145000	0.22337	0.803000	0.45373	7.690000	0.84178	2.390000	0.81377	0.591000	0.81541	GGC		0.567	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		4	37	0	0	0	0	4	37				
F5	2153	broad.mit.edu	37	1	169510609	169510609	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:169510609A>G	ENST00000367797.3	-	13	3920	c.3719T>C	c.(3718-3720)cTt>cCt	p.L1240P	F5_ENST00000367796.3_Missense_Mutation_p.L1245P	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1240	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|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)			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)	GTCTGGAGAAAGGGTTGTATG	0.527																																						uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(3718-3720)CTT>CCT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						208.0	228.0	221.0					1																	169510609		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.chr1:169510609A>G	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.3719T>C	1.37:g.169510609A>G	ENSP00000356771:p.Leu1240Pro						p.L1240P	NM_000130	NP_000121	P12259	FA5_HUMAN			13	3864	-	all_hematologic(923;0.208)		1240			2-7.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3719T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762130	0.31228	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.39229	1.09;1.09	4.04	1.23	0.21249	.	.	.	.	.	T	0.15435	0.0372	L	0.49126	1.545	0.19945	N	0.999947	B	0.06786	0.001	B	0.06405	0.002	T	0.08932	-1.0698	8	0.33141	T	0.24	.	6.672	0.23074	0.6941:0.0:0.3059:0.0	.	1240	P12259	FA5_HUMAN	P	1240;1245	ENSP00000356771:L1240P;ENSP00000356770:L1245P	ENSP00000356770:L1245P	L	-	2	0	F5	167777233	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.322000	0.08007	0.392000	0.25172	0.459000	0.35465	CTT		0.527	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		4	346	0	0	0	0	4	346				
TNN	63923	broad.mit.edu	37	1	175097245	175097245	+	Silent	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:175097245T>G	ENST00000239462.4	+	14	3236	c.3123T>G	c.(3121-3123)ctT>ctG	p.L1041L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1041	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTCTCCCTTGTTGCCTTTA	0.537																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(3121-3123)CTT>CTG		tenascin N precursor							101.0	86.0	91.0					1																	175097245		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097245T>G	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3123T>G	1.37:g.175097245T>G							p.L1041L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	14	3236	+		Breast(1374;0.000962)	1041			Fibronectin type-III 9.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.3123T>G	CCDS30943.1																																																																																				0.537	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		8	57	0	0	0	0	8	57				
UCHL5	51377	broad.mit.edu	37	1	192985497	192985497	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:192985497G>C	ENST00000367455.4	-	11	1209	c.974C>G	c.(973-975)gCt>gGt	p.A325G	UCHL5_ENST00000367454.1_Missense_Mutation_p.A324G|UCHL5_ENST00000367451.4_Missense_Mutation_p.A351G	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	325	Interaction with ADRM1.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						GGTTTCCTGAGCTTTCTTTGC	0.289																																						uc001gsm.2		NA																	0				lung(2)|ovary(1)	3						c.(973-975)GCT>GGT		ubiquitin carboxyl-terminal hydrolase L5							251.0	241.0	245.0					1																	192985497		2203	4300	6503	SO:0001583	missense	51377				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:192985497G>C		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.974C>G	1.37:g.192985497G>C	ENSP00000356425:p.Ala325Gly					UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Missense_Mutation_p.A324G|UCHL5_uc010pov.1_RNA	p.A325G	NM_015984	NP_057068	Q9Y5K5	UCHL5_HUMAN			11	1105	-			325			Interaction with ADRM1.		Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Missense_Mutation	SNP	ENST00000367455.4	37	c.974C>G	CCDS1378.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692233	0.48202	.	.	ENSG00000116750	ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451	T;T;T;T	0.65732	-0.17;-0.14;-0.15;-0.14	5.83	5.83	0.93111	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.536113	0.20454	N	0.092033	T	0.50480	0.1618	L	0.34521	1.04	0.80722	D	1	B;B	0.30281	0.275;0.18	B;B	0.21546	0.035;0.015	T	0.45381	-0.9265	10	0.32370	T	0.25	-12.9883	15.2756	0.73739	0.0688:0.0:0.9312:0.0	.	324;325	Q9Y5K5-3;Q9Y5K5	.;UCHL5_HUMAN	G	325;324;364;351	ENSP00000356425:A325G;ENSP00000356424:A324G;ENSP00000356420:A364G;ENSP00000356421:A351G	ENSP00000356420:A364G	A	-	2	0	UCHL5	191252120	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.763000	0.55257	2.761000	0.94854	0.650000	0.86243	GCT		0.289	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984		12	121	0	0	0	0	12	121				
KCNT2	343450	broad.mit.edu	37	1	196295872	196295872	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:196295872G>C	ENST00000294725.9	-	19	3166	c.2251C>G	c.(2251-2253)Ccc>Gcc	p.P751A	KCNT2_ENST00000609185.1_Missense_Mutation_p.P701A|KCNT2_ENST00000367431.4_Missense_Mutation_p.P701A|KCNT2_ENST00000451324.2_Missense_Mutation_p.P362A|KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000367433.5_Missense_Mutation_p.P751A			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	751					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTACTATGGGATTAAGTTCT	0.284																																						uc001gtd.1		NA																	0		p.P751P(1)		ovary(5)|breast(1)|skin(1)	7						c.(2251-2253)CCC>GCC		potassium channel, subfamily T, member 2							65.0	66.0	66.0					1																	196295872		2201	4294	6495	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196295872G>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2251C>G	1.37:g.196295872G>C	ENSP00000294725:p.Pro751Ala					KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Missense_Mutation_p.P701A|KCNT2_uc001gtf.1_Missense_Mutation_p.P751A|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.P751A|KCNT2_uc001gth.1_Missense_Mutation_p.P272A	p.P751A	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			19	2311	-			751			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2251C>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529977	0.85706	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000451324;ENST00000294725	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000011	D	0.90317	0.6971	M	0.89214	3.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999	D	0.91593	0.5288	10	0.66056	D	0.02	-11.2547	19.2671	0.93993	0.0:0.0:1.0:0.0	.	751;733;751;701;751	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	A	751;701;362;751	ENSP00000356403:P751A;ENSP00000356401:P701A;ENSP00000405474:P362A;ENSP00000294725:P751A	ENSP00000294725:P751A	P	-	1	0	KCNT2	194562495	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.608000	0.88229	0.650000	0.86243	CCC		0.284	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		3	38	0	0	0	0	3	38				
KDM5B	10765	broad.mit.edu	37	1	202733221	202733221	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:202733221T>C	ENST00000367265.3	-	6	1928	c.764A>G	c.(763-765)aAt>aGt	p.N255S	KDM5B_ENST00000367264.2_Missense_Mutation_p.N291S	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	255					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACGTCTCAGATTATGAGTTCT	0.303																																						uc001gyf.2		NA																	0				ovary(2)|breast(2)|urinary_tract(1)	5						c.(763-765)AAT>AGT		jumonji, AT rich interactive domain 1B							110.0	100.0	103.0					1																	202733221		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202733221T>C	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.764A>G	1.37:g.202733221T>C	ENSP00000356234:p.Asn255Ser					KDM5B_uc009xag.2_Missense_Mutation_p.N291S|KDM5B_uc001gyg.1_Missense_Mutation_p.N97S	p.N255S	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			6	880	-			255					O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.764A>G	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319768	0.41096	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.85013	-1.84;-1.66;-1.93	5.72	5.72	0.89469	.	0.086900	0.85682	D	0.000000	T	0.77791	0.4183	L	0.42245	1.32	0.39171	D	0.96258	B;B	0.29862	0.259;0.024	B;B	0.25506	0.061;0.016	T	0.74500	-0.3645	10	0.16896	T	0.51	-16.7001	11.9287	0.52835	0.0:0.0:0.1451:0.8549	.	291;255	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	S	255;97;291;97	ENSP00000356234:N255S;ENSP00000356233:N291S;ENSP00000235790:N97S	ENSP00000235790:N97S	N	-	2	0	KDM5B	200999844	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.818000	0.55678	2.177000	0.69029	0.533000	0.62120	AAT		0.303	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		11	42	0	0	0	0	11	42				
RYR2	6262	broad.mit.edu	37	1	237969513	237969513	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:237969513T>C	ENST00000366574.2	+	99	14545	c.14228T>C	c.(14227-14229)cTt>cCt	p.L4743P	RYR2_ENST00000542537.1_Missense_Mutation_p.L4727P|RYR2_ENST00000360064.6_Missense_Mutation_p.L4749P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4743					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCCGCTCACCTTCTCGACATT	0.408																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14227-14229)CTT>CCT		cardiac muscle ryanodine receptor							218.0	193.0	201.0					1																	237969513		1898	4114	6012	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237969513T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14228T>C	1.37:g.237969513T>C	ENSP00000355533:p.Leu4743Pro					RYR2_uc010pyb.1_Missense_Mutation_p.L176P	p.L4743P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		99	14348	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4743					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14228T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360227	0.82353	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.98849	-5.18;-5.18;-5.18	5.43	5.43	0.79202	Ion transport (1);	0.000000	0.53938	U	0.000051	D	0.99402	0.9789	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	D	0.98530	1.0627	10	0.87932	D	0	.	15.7714	0.78173	0.0:0.0:0.0:1.0	.	176;4743	F5H3C7;Q92736	.;RYR2_HUMAN	P	4743;4749;4727;176	ENSP00000355533:L4743P;ENSP00000353174:L4749P;ENSP00000443798:L4727P	ENSP00000353174:L4749P	L	+	2	0	RYR2	236036136	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.967000	0.87967	2.181000	0.69327	0.533000	0.62120	CTT		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		24	35	0	0	0	0	24	35				
OR2T2	401992	broad.mit.edu	37	1	248616736	248616736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr1:248616736C>T	ENST00000342927.3	+	1	660	c.638C>T	c.(637-639)tCt>tTt	p.S213F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			ATCCCTCTATCTGTCATCTCT	0.537																																						uc001iek.1		NA																	0				skin(1)	1						c.(637-639)TCT>TTT		olfactory receptor, family 2, subfamily T,							217.0	148.0	171.0					1																	248616736		2190	4265	6455	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616736C>T	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.638C>T	1.37:g.248616736C>T	ENSP00000343062:p.Ser213Phe						p.S213F	NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	638	+	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)		213			Helical; Name=5; (Potential).		B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.638C>T	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	c	0.862	-0.734974	0.03111	.	.	ENSG00000196240	ENST00000342927	T	0.37058	1.22	3.4	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.299368	0.24298	N	0.039743	T	0.42675	0.1213	L	0.41124	1.26	0.09310	N	1	D	0.56746	0.977	D	0.64506	0.926	T	0.13045	-1.0524	10	0.62326	D	0.03	.	5.9678	0.19334	0.0:0.6934:0.1942:0.1124	.	213	Q6IF00	OR2T2_HUMAN	F	213	ENSP00000343062:S213F	ENSP00000343062:S213F	S	+	2	0	OR2T2	246683359	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.119000	0.15626	0.628000	0.30357	-0.403000	0.06358	TCT		0.537	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		9	143	0	0	0	0	9	143				
ANKRD26	22852	broad.mit.edu	37	10	27303483	27303483	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:27303483T>C	ENST00000376087.4	-	31	4829	c.4664A>G	c.(4663-4665)tAt>tGt	p.Y1555C	ANKRD26_ENST00000376070.3_Missense_Mutation_p.Y1112C|ANKRD26_ENST00000436985.2_Missense_Mutation_p.Y1571C	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1554					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GAGTTGCTTATATTTTTCCAG	0.284																																						uc001ith.2		NA																	0				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(4660-4662)TAT>TGT		ankyrin repeat domain 26							49.0	46.0	47.0					10																	27303483		1777	4047	5824	SO:0001583	missense	22852					centrosome		g.chr10:27303483T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4664A>G	10.37:g.27303483T>C	ENSP00000365255:p.Tyr1555Cys					ANKRD26_uc001itg.2_Missense_Mutation_p.Y1241C|ANKRD26_uc009xku.1_Missense_Mutation_p.Y1555C	p.Y1554C	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			31	4833	-			1554			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.4661A>G	CCDS41499.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	11.28|11.28	1.592446|1.592446	0.28357|0.28357	.|.	.|.	ENSG00000107890|ENSG00000107890	ENST00000445828|ENST00000376070;ENST00000376087;ENST00000436985	.|T;T;T	.|0.59224	.|0.28;0.28;0.28	5.27|5.27	4.13|4.13	0.48395|0.48395	.|.	.|.	.|.	.|.	.|.	T|T	0.73466|0.73466	0.3590|0.3590	M|M	0.79123|0.79123	2.44|2.44	0.29532|0.29532	N|N	0.852709|0.852709	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.999;0.999	T|T	0.68777|0.68777	-0.5319|-0.5319	5|9	.|0.87932	.|D	.|0	.|.	8.2086|8.2086	0.31471|0.31471	0.3206:0.0:0.0:0.6794|0.3206:0.0:0.0:0.6794	.|.	.|1555;1554;1571	.|Q9UPS8-3;Q9UPS8;A1L497	.|.;ANR26_HUMAN;.	M|C	42|1112;1555;1571	.|ENSP00000365238:Y1112C;ENSP00000365255:Y1555C;ENSP00000405112:Y1571C	.|ENSP00000365238:Y1112C	I|Y	-|-	3|2	3|0	ANKRD26|ANKRD26	27343489|27343489	0.998000|0.998000	0.40836|0.40836	0.583000|0.583000	0.28640|0.28640	0.023000|0.023000	0.10783|0.10783	2.393000|2.393000	0.44442|0.44442	0.855000|0.855000	0.35359|0.35359	-0.829000|-0.829000	0.03081|0.03081	ATA|TAT		0.284	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			17	13	0	0	0	0	17	13				
MCU	90550	broad.mit.edu	37	10	74620189	74620189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:74620189C>T	ENST00000373053.3	+	4	421	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	MCU_ENST00000357157.6_Missense_Mutation_p.R134C|MCU_ENST00000536019.1_Missense_Mutation_p.R85C	NM_138357.2	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	134					calcium ion transmembrane import into mitochondrion (GO:0036444)|calcium-mediated signaling (GO:0019722)|glucose homeostasis (GO:0042593)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein complex oligomerization (GO:0035786)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|uniplex complex (GO:1990246)	calcium channel activity (GO:0005262)|uniporter activity (GO:0015292)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						AGATGGTGTTCGCGTTGCTGC	0.358																																						uc001jtc.2		NA																	0					0						c.(400-402)CGC>TGC		coiled-coil domain containing 109A							130.0	118.0	122.0					10																	74620189		2203	4300	6503	SO:0001583	missense	90550				elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding	g.chr10:74620189C>T	BC034235	CCDS7317.1, CCDS59218.1, CCDS59219.1	10q22.2	2011-06-23	2011-06-23	2011-06-23	ENSG00000156026	ENSG00000156026			23526	protein-coding gene	gene with protein product		614197	"""coiled-coil domain containing 109A"""	C10orf42, CCDC109A		21685886, 21685888	Standard	NM_138357		Approved	FLJ46135	uc001jtc.3	Q8NE86	OTTHUMG00000018443	ENST00000373053.3:c.400C>T	10.37:g.74620189C>T	ENSP00000362144:p.Arg134Cys					CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Missense_Mutation_p.R134C|CCDC109A_uc001jtd.2_Missense_Mutation_p.R85C	p.R134C	NM_138357	NP_612366	Q8NE86	MCU_HUMAN			4	421	+	Prostate(51;0.0198)		134			Mitochondrial matrix (Potential).		B2RDF3|B3KXV7|Q96FL3	Missense_Mutation	SNP	ENST00000373053.3	37	c.400C>T	CCDS7317.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983793	0.74474	.	.	ENSG00000156026	ENST00000373053;ENST00000357157;ENST00000536019	T;T;T	0.32272	1.46;1.46;1.46	5.69	4.78	0.61160	Coiled-coil domain containing protein 109, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.992;0.998	T	0.67841	-0.5566	10	0.87932	D	0	-7.918	16.1859	0.81950	0.134:0.866:0.0:0.0	.	134;85;134	Q8NE86-2;Q8NE86-3;Q8NE86	.;.;MCU_HUMAN	C	134;134;85	ENSP00000362144:R134C;ENSP00000349680:R134C;ENSP00000440913:R85C	ENSP00000349680:R134C	R	+	1	0	MCU	74290195	0.998000	0.40836	0.998000	0.56505	0.927000	0.56198	3.259000	0.51515	1.378000	0.46305	0.650000	0.86243	CGC		0.358	MCU-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048594.1	NM_138357		18	77	0	0	0	0	18	77				
ZSWIM8	23053	broad.mit.edu	37	10	75553701	75553701	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:75553701A>C	ENST00000605216.1	+	12	2741	c.2524A>C	c.(2524-2526)Aca>Cca	p.T842P	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.T842P|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.T842P|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.T809P|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.T842P	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	842							zinc ion binding (GO:0008270)										CTTCCTGTTGACAGTGCTAAG	0.562																																						uc009xrl.2		NA																	0				breast(1)	1						c.(2524-2526)ACA>CCA		hypothetical protein LOC23053							72.0	78.0	76.0					10																	75553701		2070	4201	6271	SO:0001583	missense	23053						zinc ion binding	g.chr10:75553701A>C	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.2524A>C	10.37:g.75553701A>C	ENSP00000474748:p.Thr842Pro					KIAA0913_uc001jve.2_Missense_Mutation_p.T842P|KIAA0913_uc001jvf.2_Missense_Mutation_p.T842P|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.T265P|KIAA0913_uc010qkr.1_Missense_Mutation_p.T265P|KIAA0913_uc001jvj.2_Missense_Mutation_p.T265P	p.T842P	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			12	2556	+	Prostate(51;0.0112)		842					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.2524A>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	19.26|19.26|19.26	3.793409|3.793409|3.793409	0.70452|0.70452|0.70452	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000398706|ENST00000431225;ENST00000412198;ENST00000425051	.|T|.	.|0.50548|.	.|0.74|.	5.31|5.31|5.31	5.31|5.31|5.31	0.75309|0.75309|0.75309	.|.|.	.|0.195453|.	.|0.32204|.	.|U|.	.|0.006421|.	T|T|.	0.73776|0.73776|.	0.3630|0.3630|.	M|M|M	0.72118|0.72118|0.72118	2.19|2.19|2.19	0.52501|0.52501|0.52501	D|D|D	0.99995|0.99995|0.99995	.|D;D;D;D|.	.|0.71674|.	.|0.998;0.998;0.998;0.998|.	.|D;D;D;D|.	.|0.63703|.	.|0.917;0.917;0.917;0.917|.	T|T|.	0.74016|0.74016|.	-0.3800|-0.3800|.	5|10|.	.|0.72032|.	.|D|.	.|0.01|.	-4.8637|-4.8637|-4.8637	15.4182|15.4182|15.4182	0.74987|0.74987|0.74987	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|842;842;842;842|.	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	.|K0913_HUMAN;.;.;.|.	A|P|C	557|842|338;111;20	.|ENSP00000381693:T842P|.	.|ENSP00000381693:T842P|.	D|T|X	+|+|+	2|1|3	0|0|0	KIAA0913|KIAA0913|KIAA0913	75223707|75223707|75223707	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.998000|0.998000|0.998000	0.56505|0.56505|0.56505	0.894000|0.894000|0.894000	0.52154|0.52154|0.52154	6.950000|6.950000|6.950000	0.75977|0.75977|0.75977	2.231000|2.231000|2.231000	0.72958|0.72958|0.72958	0.455000|0.455000|0.455000	0.32223|0.32223|0.32223	GAC|ACA|TGA		0.562	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		7	20	0	0	0	0	7	20				
NRG3	10718	broad.mit.edu	37	10	84625186	84625186	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:84625186A>T	ENST00000404547.1	+	4	1047	c.1047A>T	c.(1045-1047)gaA>gaT	p.E349D	NRG3_ENST00000372141.2_Missense_Mutation_p.E349D|NRG3_ENST00000372142.2_Missense_Mutation_p.E128D|NRG3_ENST00000556918.1_Missense_Mutation_p.E179D|NRG3_ENST00000404576.2_Missense_Mutation_p.E153D|NRG3_ENST00000545131.1_5'UTR|NRG3_ENST00000537893.1_5'UTR			P56975	NRG3_HUMAN	neuregulin 3	349					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TGGGGATTGAATTCATGGGTA	0.373																																						uc001kco.2		NA																	0				lung(5)|breast(1)	6						c.(1045-1047)GAA>GAT		neuregulin 3 isoform 1							142.0	144.0	143.0					10																	84625186		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84625186A>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1047A>T	10.37:g.84625186A>T	ENSP00000384796:p.Glu349Asp					NRG3_uc010qlz.1_Missense_Mutation_p.E348D|NRG3_uc001kcp.2_Missense_Mutation_p.E128D|NRG3_uc001kcq.2_5'UTR|NRG3_uc001kcr.2_5'UTR	p.E349D	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	4	1074	+			349			Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1047A>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.206263	0.58343	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000372142;ENST00000404576;ENST00000556918	T;T;T;T;T	0.52295	1.28;1.31;1.29;0.67;1.26	4.77	4.77	0.60923	.	0.076866	0.48286	D	0.000190	T	0.60521	0.2275	L	0.55481	1.735	0.80722	D	1	B;D;D	0.61697	0.097;0.99;0.974	B;D;D	0.73380	0.059;0.98;0.969	T	0.60747	-0.7202	10	0.48119	T	0.1	-28.9554	10.6133	0.45434	1.0:0.0:0.0:0.0	.	348;128;349	B9EGV5;P56975-3;P56975-4	.;.;.	D	349;349;128;153;179	ENSP00000361214:E349D;ENSP00000384796:E349D;ENSP00000361215:E128D;ENSP00000385804:E153D;ENSP00000451376:E179D	ENSP00000361214:E349D	E	+	3	2	NRG3	84615166	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.497000	0.60367	2.012000	0.59069	0.528000	0.53228	GAA		0.373	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		12	50	0	0	0	0	12	50				
CDHR1	92211	broad.mit.edu	37	10	85972970	85972970	+	Missense_Mutation	SNP	C	C	T	rs148280890	byFrequency	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:85972970C>T	ENST00000372117.3	+	16	2009	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	CDHR1_ENST00000440770.2_Missense_Mutation_p.R340C|CDHR1_ENST00000332904.3_Missense_Mutation_p.R636C	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	636	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GAATTCCATCCGCTCCCTGGA	0.587													C|||	3	0.000599042	0.0023	0.0	5008	,	,		20742	0.0		0.0	False		,,,				2504	0.0					uc001kcv.2		NA																	0				ovary(1)	1						c.(1906-1908)CGC>TGC		protocadherin 21 precursor		C	CYS/ARG,CYS/ARG	17,4389	23.3+/-48.9	0,17,2186	122.0	109.0	113.0		1906,1906	4.0	1.0	10	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense	CDHR1	NM_001171971.1,NM_033100.2	180,180	0,17,6486	TT,TC,CC		0.0,0.3858,0.1307	probably-damaging,probably-damaging	636/746,636/860	85972970	17,12989	2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972970C>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1906C>T	10.37:g.85972970C>T	ENSP00000361189:p.Arg636Cys					CDHR1_uc001kcw.2_Missense_Mutation_p.R636C|CDHR1_uc009xst.2_Missense_Mutation_p.R340C|CDHR1_uc001kcx.2_5'UTR	p.R636C	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			16	1906	+			636			Cadherin 6.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1906C>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118370	0.77323	0.003858	0.0	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.60920	0.15;0.15;0.15	5.93	4.01	0.46588	Cadherin (4);Cadherin-like (1);	0.254583	0.42964	D	0.000630	T	0.68495	0.3007	M	0.69823	2.125	0.50632	D	0.999881	D;D;D	0.71674	0.998;0.997;0.997	P;P;P	0.60473	0.664;0.711;0.875	T	0.68895	-0.5288	10	0.62326	D	0.03	-17.939	8.83	0.35078	0.3287:0.5312:0.1401:0.0	.	340;636;636	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	C	636;636;340	ENSP00000331063:R636C;ENSP00000361189:R636C;ENSP00000415980:R340C	ENSP00000331063:R636C	R	+	1	0	CDHR1	85962950	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.733000	0.47360	0.773000	0.33404	0.655000	0.94253	CGC		0.587	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		25	74	0	0	0	0	25	74				
DMBT1	1755	broad.mit.edu	37	10	124402660	124402660	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr10:124402660G>A	ENST00000338354.3	+	53	7094	c.6988G>A	c.(6988-6990)Gga>Aga	p.G2330R	DMBT1_ENST00000344338.3_Missense_Mutation_p.G2320R|DMBT1_ENST00000368956.2_Missense_Mutation_p.G1702R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1702R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G2330R|DMBT1_ENST00000359586.6_Missense_Mutation_p.G1050R|DMBT1_ENST00000368955.3_Missense_Mutation_p.G2320R			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2330	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGACACCTACGGACCCTACTC	0.552																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(6988-6990)GGA>AGA		deleted in malignant brain tumors 1 isoform b							121.0	132.0	128.0					10																	124402660		2109	4222	6331	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402660G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6988G>A	10.37:g.124402660G>A	ENSP00000342210:p.Gly2330Arg					DMBT1_uc001lgl.1_Missense_Mutation_p.G2320R|DMBT1_uc001lgm.1_Missense_Mutation_p.G1702R|DMBT1_uc009xzz.1_Missense_Mutation_p.G2329R|DMBT1_uc010qtx.1_Missense_Mutation_p.G1050R|DMBT1_uc009yab.1_Missense_Mutation_p.G1033R|DMBT1_uc009yac.1_Missense_Mutation_p.G624R	p.G2330R	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			53	7094	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2330			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6988G>A		.	.	.	.	.	.	.	.	.	.	G	6.226	0.409826	0.11812	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.22	-0.867	0.10655	Zona pellucida sperm-binding protein (3);	2.174600	0.02919	N	0.137706	T	0.64182	0.2575	N	0.01048	-1.04	0.09310	N	1	B;D;B;B;B;B;B	0.61697	0.001;0.99;0.001;0.001;0.001;0.001;0.001	B;P;B;B;B;B;B	0.51170	0.001;0.661;0.001;0.001;0.001;0.001;0.002	T	0.61431	-0.7064	10	0.27785	T	0.31	.	10.1295	0.42669	0.4034:0.1688:0.4278:0.0	.	1050;2310;1579;2459;1702;2320;2330	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	R	2330;2459;2330;2330;2330;2329;1702;2320;1702;1702;2330;2320;1702;476;1050	ENSP00000342210:G2330R;ENSP00000343175:G2320R;ENSP00000327747:G1702R;ENSP00000357905:G2330R;ENSP00000357951:G2320R;ENSP00000357952:G1702R;ENSP00000352593:G1050R	ENSP00000331522:G1702R	G	+	1	0	DMBT1	124392650	0.000000	0.05858	0.038000	0.18304	0.063000	0.16089	-1.143000	0.03200	0.195000	0.20347	-0.225000	0.12378	GGA		0.552	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		16	89	0	0	0	0	16	89				
ELP4	26610	broad.mit.edu	37	11	31616423	31616423	+	Missense_Mutation	SNP	G	G	A	rs199901084		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:31616423G>A	ENST00000350638.5	+	4	523	c.488G>A	c.(487-489)cGt>cAt	p.R163H	ELP4_ENST00000395934.2_Missense_Mutation_p.R163H|ELP4_ENST00000379163.5_Missense_Mutation_p.R163H	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	163					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ATAGCTTGGCGTTACCAGTTA	0.318																																						uc001mtb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3						c.(487-489)CGT>CAT		elongation protein 4 homolog							63.0	59.0	60.0					11																	31616423		1812	4060	5872	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31616423G>A	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.488G>A	11.37:g.31616423G>A	ENSP00000298937:p.Arg163His					ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.R163H|ELP4_uc010rdz.1_Missense_Mutation_p.R163H	p.R163H	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN			4	523	+	Lung SC(675;0.225)		163					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.488G>A	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.832313	0.91036	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.62788	-0.0;-0.0;-0.0	5.12	5.12	0.69794	.	0.052738	0.85682	D	0.000000	D	0.84074	0.5392	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.997	D	0.87769	0.2604	10	0.87932	D	0	-15.223	18.921	0.92525	0.0:0.0:1.0:0.0	.	163;163;163	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	H	163	ENSP00000298937:R163H;ENSP00000368461:R163H;ENSP00000379267:R163H	ENSP00000298937:R163H	R	+	2	0	ELP4	31572999	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.108000	0.89559	2.539000	0.85634	0.460000	0.39030	CGT		0.318	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		6	22	0	0	0	0	6	22				
TRIM51	84767	broad.mit.edu	37	11	55653123	55653123	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:55653123G>A	ENST00000449290.2	+	2	311	c.219G>A	c.(217-219)atG>atA	p.M73I	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	73						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										TGAAGAACATGGCTTTCATTG	0.478																																						uc010rip.1		NA																	0					0						c.(217-219)ATG>ATA		SPRY domain containing 5							29.0	25.0	26.0					11																	55653123		692	1591	2283	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653123G>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.219G>A	11.37:g.55653123G>A	ENSP00000395086:p.Met73Ile					SPRYD5_uc010riq.1_5'Flank	p.M73I	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	311	+		all_epithelial(135;0.226)	73					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.219G>A		.	.	.	.	.	.	.	.	.	.	.	8.243	0.807243	0.16467	.	.	ENSG00000124900	ENST00000449290	T	0.80214	-1.35	0.803	-0.479	0.12089	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.57066	0.2028	N	0.08118	0	0.26670	N	0.971745	B	0.29716	0.255	B	0.26969	0.075	T	0.46992	-0.9151	9	0.38643	T	0.18	.	4.8587	0.13571	0.2733:0.0:0.7267:0.0	.	73	Q9BSJ1	SPRY5_HUMAN	I	73	ENSP00000395086:M73I	ENSP00000395086:M73I	M	+	3	0	SPRYD5	55409699	0.416000	0.25424	0.003000	0.11579	0.037000	0.13140	1.195000	0.32186	-0.107000	0.12088	0.152000	0.16155	ATG		0.478	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		11	13	0	0	0	0	11	13				
OR5T2	219464	broad.mit.edu	37	11	55999656	55999656	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:55999656C>A	ENST00000313264.4	-	1	1081	c.1006G>T	c.(1006-1008)Gta>Tta	p.V336L		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	336						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAGTCTTTTACATCTTTGTTC	0.328																																						uc010rjc.1		NA																	0				ovary(2)	2						c.(1006-1008)GTA>TTA		olfactory receptor, family 5, subfamily T,							81.0	76.0	77.0					11																	55999656		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999656C>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.1006G>T	11.37:g.55999656C>A	ENSP00000323688:p.Val336Leu						p.V336L	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	1006	-	Esophageal squamous(21;0.00448)		336			Cytoplasmic (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.1006G>T	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.173879	0.38413	.	.	ENSG00000181718	ENST00000313264	T	0.37584	1.19	5.07	3.2	0.36748	.	0.000000	0.37857	U	0.001916	T	0.28863	0.0716	N	0.25890	0.77	0.23959	N	0.996344	P	0.50710	0.938	P	0.48770	0.589	T	0.10291	-1.0636	10	0.87932	D	0	.	5.1154	0.14831	0.0:0.5993:0.1503:0.2504	.	336	Q8NGG2	OR5T2_HUMAN	L	336	ENSP00000323688:V336L	ENSP00000323688:V336L	V	-	1	0	OR5T2	55756232	0.001000	0.12720	0.963000	0.40424	0.394000	0.30568	0.308000	0.19314	0.656000	0.30886	-0.362000	0.07510	GTA		0.328	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		17	49	1	0	1.57e-10	2.09e-10	17	49				
NXF1	10482	broad.mit.edu	37	11	62564806	62564806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:62564806G>A	ENST00000532297.1	-	13	1735	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M	NXF1_ENST00000294172.2_Missense_Mutation_p.T369M|NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000533048.1_5'Flank			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	369					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGCGGTAACGTCGTGGGGGC	0.498																																						uc001nvf.1		NA																	0				skin(3)	3						c.(1105-1107)ACG>ATG		nuclear RNA export factor 1 isoform 1							116.0	101.0	106.0					11																	62564806		2201	4299	6500	SO:0001583	missense	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62564806G>A	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1106C>T	11.37:g.62564806G>A	ENSP00000436679:p.Thr369Met					NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.T412M	p.T369M	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN			12	1242	-			369			Interaction with THOC4.|LRR 4.		B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	ENST00000532297.1	37	c.1106C>T	CCDS8037.1	.	.	.	.	.	.	.	.	.	.	G	8.858	0.946327	0.18356	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875	T;T;T	0.63744	-0.06;-0.06;-0.06	5.42	-7.16	0.01516	.	0.924293	0.09295	N	0.821746	T	0.57917	0.2086	M	0.62016	1.91	0.09310	N	0.999999	B;B	0.18461	0.028;0.005	B;B	0.16289	0.015;0.001	T	0.37549	-0.9701	10	0.29301	T	0.29	0.0011	20.7843	0.99721	0.1545:0.0:0.8455:0.0	.	412;369	E9PIN3;Q9UBU9	.;NXF1_HUMAN	M	369;369;412	ENSP00000294172:T369M;ENSP00000436679:T369M;ENSP00000435742:T412M	ENSP00000294172:T369M	T	-	2	0	NXF1	62321382	0.008000	0.16893	0.001000	0.08648	0.512000	0.34134	0.602000	0.24134	-1.382000	0.02109	-0.300000	0.09419	ACG		0.498	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	NM_006362		12	76	0	0	0	0	12	76				
MAP4K2	5871	broad.mit.edu	37	11	64563761	64563761	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:64563761G>T	ENST00000294066.2	-	24	1826	c.1735C>A	c.(1735-1737)Cag>Aag	p.Q579K	MAP4K2_ENST00000377350.3_Missense_Mutation_p.Q571K	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	579	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						ATGATGCGCTGGGTGAGGCGG	0.642																																						uc001obh.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1735-1737)CAG>AAG		mitogen-activated protein kinase kinase kinase							80.0	79.0	79.0					11																	64563761		2201	4297	6498	SO:0001583	missense	5871				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64563761G>T	BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.1735C>A	11.37:g.64563761G>T	ENSP00000294066:p.Gln579Lys					MAP4K2_uc001obg.2_RNA|MAP4K2_uc001obi.2_Missense_Mutation_p.Q571K	p.Q579K	NM_004579	NP_004570	Q12851	M4K2_HUMAN			24	1827	-			579			CNH.		Q86VU3	Missense_Mutation	SNP	ENST00000294066.2	37	c.1735C>A	CCDS8082.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681952	0.47991	.	.	ENSG00000168067	ENST00000294066;ENST00000377350	T;T	0.68331	-0.31;-0.32	4.18	4.18	0.49190	Citron-like (3);	0.292573	0.33235	N	0.005126	T	0.52354	0.1729	N	0.22421	0.69	0.30619	N	0.75872	B;P	0.38280	0.451;0.625	B;B	0.37780	0.157;0.258	T	0.61826	-0.6983	10	0.59425	D	0.04	.	11.9211	0.52793	0.0:0.0:1.0:0.0	.	571;579	Q86VU3;Q12851	.;M4K2_HUMAN	K	579;571	ENSP00000294066:Q579K;ENSP00000366567:Q571K	ENSP00000294066:Q579K	Q	-	1	0	MAP4K2	64320337	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.353000	0.66034	2.182000	0.69389	0.456000	0.33151	CAG		0.642	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105239.1	NM_004579		18	44	1	0	9.17e-09	1.19e-08	18	44				
PACS1	55690	broad.mit.edu	37	11	65960978	65960978	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:65960978G>C	ENST00000320580.4	+	2	411	c.378G>C	c.(376-378)aaG>aaC	p.K126N		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	126					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGACCCTGAAGAAACTCGTCA	0.458																																						uc001oha.1		NA																	0				ovary(6)	6						c.(376-378)AAG>AAC		phosphofurin acidic cluster sorting protein 1							99.0	83.0	88.0					11																	65960978		2201	4295	6496	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65960978G>C	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.378G>C	11.37:g.65960978G>C	ENSP00000316454:p.Lys126Asn					PACS1_uc001ogz.1_Missense_Mutation_p.K126N	p.K126N	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			2	512	+			126					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.378G>C	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447387	0.43429	.	.	ENSG00000175115	ENST00000320580;ENST00000533756;ENST00000527380	T	0.19105	2.17	4.88	4.88	0.63580	.	0.167486	0.52532	D	0.000077	T	0.36580	0.0972	L	0.55990	1.75	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.987;0.996	T	0.04413	-1.0953	10	0.28530	T	0.3	-22.4035	9.2761	0.37700	0.099:0.0:0.901:0.0	.	126;126	Q6VY07;Q6VY07-2	PACS1_HUMAN;.	N	126;23;28	ENSP00000316454:K126N	ENSP00000316454:K126N	K	+	3	2	PACS1	65717554	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.519000	0.67074	2.253000	0.74438	0.655000	0.94253	AAG		0.458	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		7	27	0	0	0	0	7	27				
SHANK2	22941	broad.mit.edu	37	11	70333123	70333123	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:70333123C>T	ENST00000423696.2	-	15	2174	c.2138G>A	c.(2137-2139)cGg>cAg	p.R713Q	SHANK2_ENST00000409161.1_Missense_Mutation_p.R496Q|SHANK2_ENST00000338508.4_Missense_Mutation_p.R1093Q|SHANK2_ENST00000449833.2_Missense_Mutation_p.R497Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	713					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGCTTCCAGCCGCTTCTCACG	0.721																																						uc001oqc.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3274-3276)CGG>CAG		SH3 and multiple ankyrin repeat domains 2							22.0	28.0	26.0					11																	70333123		2130	4189	6319	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70333123C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.2138G>A	11.37:g.70333123C>T	ENSP00000394536:p.Arg713Gln					SHANK2_uc010rqn.1_Missense_Mutation_p.R504Q|SHANK2_uc001opz.2_Missense_Mutation_p.R497Q|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	p.R1092Q	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		21	3353	-			713					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.3275G>A		.	.	.	.	.	.	.	.	.	.	C	25.1	4.599295	0.87055	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.63438	0.2511	L	0.49513	1.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.963;0.998;0.994	T	0.59974	-0.7353	10	0.30854	T	0.27	.	18.0342	0.89294	0.0:1.0:0.0:0.0	.	713;1092;497	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	Q	497;496;371;1093;713;731;716	ENSP00000399423:R497Q;ENSP00000386491:R496Q;ENSP00000402944:R371Q;ENSP00000345193:R1093Q;ENSP00000394536:R713Q;ENSP00000294018:R716Q	ENSP00000294018:R716Q	R	-	2	0	SHANK2	70010771	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.277000	0.78572	2.261000	0.74972	0.561000	0.74099	CGG		0.721	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		13	347	0	0	0	0	13	347				
MMP1	4312	broad.mit.edu	37	11	102666294	102666294	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:102666294G>C	ENST00000315274.6	-	5	737	c.670C>G	c.(670-672)Ctt>Gtt	p.L224V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	224	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GAGAGTCCAAGAGAATGGCCG	0.423																																						uc001phi.2		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(670-672)CTT>GTT		matrix metalloproteinase 1 isoform 1							77.0	67.0	70.0					11																	102666294		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102666294G>C	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.670C>G	11.37:g.102666294G>C	ENSP00000322788:p.Leu224Val					uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.L158V	p.L224V	NM_002421	NP_002412	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	5	813	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	224			Metalloprotease.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.670C>G	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	15.47	2.843335	0.51057	.	.	ENSG00000196611	ENST00000315274	T	0.56103	0.48	5.65	5.65	0.86999	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.56097	D	0.000035	T	0.79370	0.4434	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84119	0.0405	10	0.87932	D	0	.	13.3239	0.60449	0.0722:0.0:0.9278:0.0	.	224	P03956	MMP1_HUMAN	V	224	ENSP00000322788:L224V	ENSP00000322788:L224V	L	-	1	0	MMP1	102171504	1.000000	0.71417	0.995000	0.50966	0.063000	0.16089	4.315000	0.59172	2.824000	0.97209	0.655000	0.94253	CTT		0.423	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		26	338	0	0	0	0	26	338				
BCL9L	283149	broad.mit.edu	37	11	118773004	118773004	+	Missense_Mutation	SNP	G	G	A	rs147951163	byFrequency	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:118773004G>A	ENST00000334801.3	-	6	2412	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	483	Necessary for interaction with CTNNB1. {ECO:0000250}.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCTCCAGCGGGGGGCCCCC	0.642																																						uc001pug.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1447-1449)CCG>CTG		B-cell CLL/lymphoma 9-like		G	LEU/PRO	0,4316		0,0,2158	50.0	62.0	58.0		1448	3.7	0.9	11	dbSNP_134	58	2,8504		0,2,4251	no	missense	BCL9L	NM_182557.2	98	0,2,6409	AA,AG,GG		0.0235,0.0,0.0156	benign	483/1500	118773004	2,12820	2158	4253	6411	SO:0001583	missense	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118773004G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1448C>T	11.37:g.118773004G>A	ENSP00000335320:p.Pro483Leu					BCL9L_uc009zal.2_Missense_Mutation_p.P478L	p.P483L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	6	2413	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	483			Pro-rich.|Necessary for interaction with CTNNB1 (By similarity).		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	c.1448C>T	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	G	5.249	0.231376	0.09969	0.0	2.35E-4	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.77358	-1.09	4.62	3.66	0.41972	.	0.873277	0.09423	N	0.804156	T	0.56645	0.1999	N	0.08118	0	0.43250	D	0.995176	B;B	0.29862	0.259;0.168	B;B	0.22880	0.042;0.019	T	0.57883	-0.7734	10	0.52906	T	0.07	-14.1976	6.889	0.24218	0.1061:0.2866:0.6073:0.0	.	478;483	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	L	483;446;483;483	ENSP00000335320:P483L	ENSP00000335320:P483L	P	-	2	0	BCL9L	118278214	0.041000	0.20044	0.876000	0.34364	0.197000	0.23852	1.484000	0.35508	2.402000	0.81655	0.305000	0.20034	CCG		0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		84	81	0	0	0	0	84	81				
CLEC4E	26253	broad.mit.edu	37	12	8693386	8693386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:8693386G>T	ENST00000299663.3	-	1	173	c.8C>A	c.(7-9)tCa>tAa	p.S3*	CLEC4E_ENST00000545274.1_Nonsense_Mutation_p.S3*|CLEC4E_ENST00000446457.2_Nonsense_Mutation_p.S3*	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	3					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGATTTAGATGAATTCATTTT	0.363																																						uc001quo.1		NA																	0				central_nervous_system(1)	1						c.(7-9)TCA>TAA		C-type lectin domain family 4, member E							309.0	265.0	280.0					12																	8693386		2203	4300	6503	SO:0001587	stop_gained	26253					integral to membrane	sugar binding	g.chr12:8693386G>T	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.8C>A	12.37:g.8693386G>T	ENSP00000299663:p.Ser3*						p.S3*	NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN			1	173	-	Lung SC(5;0.184)		3			Cytoplasmic (Potential).		B2R6Q6	Nonsense_Mutation	SNP	ENST00000299663.3	37	c.8C>A	CCDS8594.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089438	0.76756	.	.	ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274	.	.	.	3.83	2.94	0.34122	.	0.249082	0.21867	N	0.067951	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1032	0.25348	0.1202:0.0:0.8798:0.0	.	.	.	.	X	3	.	ENSP00000299663:S3X	S	-	2	0	CLEC4E	8584653	0.990000	0.36364	0.160000	0.22671	0.158000	0.22134	3.520000	0.53465	1.206000	0.43276	0.591000	0.81541	TCA		0.363	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		12	43	1	0	0.00185496	0.00227175	12	43				
PRB2	653247	broad.mit.edu	37	12	11546897	11546897	+	Missense_Mutation	SNP	C	C	G	rs200441552		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:11546897C>G	ENST00000389362.4	-	3	150	c.115G>C	c.(115-117)Gca>Cca	p.A39P	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	39						extracellular region (GO:0005576)		p.?(1)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGCTCCTTGTGGA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18973	0.001		0.0	False		,,,				2504	0.0					uc010shk.1		NA																	2	Unknown(1)|Deletion - In frame(1)		stomach(2)		0						c.(115-117)GCA>CCA		proline-rich protein BstNI subfamily 2							101.0	113.0	109.0					12																	11546897		2114	4246	6360	SO:0001583	missense	653247							g.chr12:11546897C>G	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.115G>C	12.37:g.11546897C>G	ENSP00000374013:p.Ala39Pro						p.A39P	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	150	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.115G>C	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	4.521	0.096704	0.08681	.	.	ENSG00000121335	ENST00000389362	T	0.04194	3.68	1.72	-1.66	0.08265	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48222	-0.9054	9	0.08381	T	0.77	.	4.6022	0.12359	0.0:0.1991:0.4005:0.4004	.	39	P02812	PRB2_HUMAN	P	39	ENSP00000374013:A39P	ENSP00000374013:A39P	A	-	1	0	PRB2	11438164	0.301000	0.24444	0.005000	0.12908	0.014000	0.08584	-0.332000	0.07904	-0.522000	0.06417	-0.991000	0.02546	GCA		0.502	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		43	108	0	0	0	0	43	108				
PRB2	653247	broad.mit.edu	37	12	11546907	11546907	+	Missense_Mutation	SNP	A	A	C	rs559068753		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:11546907A>C	ENST00000389362.4	-	3	140	c.105T>G	c.(103-105)aaT>aaG	p.N35K	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'UTR	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	35						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTCCTTGTGGATTTCCTGGAG	0.488																																						uc010shk.1		NA																	0					0						c.(103-105)AAT>AAG		proline-rich protein BstNI subfamily 2							14.0	12.0	12.0					12																	11546907		692	1591	2283	SO:0001583	missense	653247							g.chr12:11546907A>C	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.105T>G	12.37:g.11546907A>C	ENSP00000374013:p.Asn35Lys						p.N35K	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	140	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.105T>G	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	0.020	-1.432541	0.01108	.	.	ENSG00000121335	ENST00000389362	T	0.03745	3.82	1.23	-2.46	0.06461	.	.	.	.	.	T	0.00936	0.0031	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45614	-0.9249	9	0.02654	T	1	.	3.5843	0.07965	0.2839:0.5079:0.2082:0.0	.	35	P02812	PRB2_HUMAN	K	35	ENSP00000374013:N35K	ENSP00000374013:N35K	N	-	3	2	PRB2	11438174	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	-1.545000	0.02190	-0.383000	0.07858	-1.820000	0.00599	AAT		0.488	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		46	97	0	0	0	0	46	97				
MANSC1	54682	broad.mit.edu	37	12	12483163	12483163	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:12483163C>A	ENST00000535902.1	-	4	1657	c.1094G>T	c.(1093-1095)gGc>gTc	p.G365V	MANSC1_ENST00000545735.1_Missense_Mutation_p.G284V|MANSC1_ENST00000396349.3_Missense_Mutation_p.G331V			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	365						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GGAGGAACTGCCTGGACTGGC	0.488																																						uc001rai.1		NA																	0					0						c.(1093-1095)GGC>GTC		MANSC domain containing 1 precursor							85.0	87.0	87.0					12																	12483163		2203	4300	6503	SO:0001583	missense	54682					integral to membrane		g.chr12:12483163C>A	AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.1094G>T	12.37:g.12483163C>A	ENSP00000438205:p.Gly365Val					MANSC1_uc010shm.1_Missense_Mutation_p.G299V|MANSC1_uc001raj.1_Missense_Mutation_p.G331V|MANSC1_uc009zht.1_Missense_Mutation_p.G284V	p.G365V	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.185)	4	1352	-		Prostate(47;0.0865)	365			Extracellular (Potential).		Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	c.1094G>T	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.772053	0.49680	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.26067	2.05;2.1;1.76	5.12	3.29	0.37713	.	0.204155	0.24708	N	0.036251	T	0.41351	0.1155	L	0.60455	1.87	0.20074	N	0.999933	D;D;D	0.89917	1.0;0.998;0.982	D;P;P	0.70227	0.968;0.905;0.785	T	0.14392	-1.0474	10	0.56958	D	0.05	-9.0893	7.7344	0.28806	0.0:0.8046:0.0:0.1954	.	299;331;365	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	V	365;331;284;284	ENSP00000438205:G365V;ENSP00000379638:G331V;ENSP00000445303:G284V	ENSP00000347765:G284V	G	-	2	0	MANSC1	12374430	0.001000	0.12720	0.002000	0.10522	0.006000	0.05464	1.085000	0.30840	0.560000	0.29169	0.491000	0.48974	GGC		0.488	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1	NM_018050		18	48	1	0	2e-07	2.55e-07	18	48				
GSG1	83445	broad.mit.edu	37	12	13243618	13243618	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:13243618G>A	ENST00000432710.2	-	2	315	c.183C>T	c.(181-183)ccC>ccT	p.P61P	GSG1_ENST00000324458.8_Silent_p.P61P|GSG1_ENST00000396310.2_Silent_p.P45P|GSG1_ENST00000351606.6_Silent_p.P61P|GSG1_ENST00000337630.6_Silent_p.P48P|GSG1_ENST00000457134.2_Silent_p.P48P|GSG1_ENST00000537302.1_Silent_p.P48P|GSG1_ENST00000396302.3_Silent_p.P48P	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	48						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCTCGCACAGGGGCTTGGGCA	0.542																																						uc001rbn.2		NA																	0					0						c.(181-183)CCC>CCT		germ cell associated 1 isoform 4							123.0	107.0	113.0					12																	13243618		2203	4300	6503	SO:0001819	synonymous_variant	83445					endoplasmic reticulum membrane|integral to membrane		g.chr12:13243618G>A	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.183C>T	12.37:g.13243618G>A						GSG1_uc001rbj.2_Silent_p.P48P|GSG1_uc001rbk.2_Silent_p.P48P|GSG1_uc001rbl.2_Silent_p.P48P|GSG1_uc001rbm.2_Silent_p.P48P|GSG1_uc001rbo.2_Silent_p.P61P|GSG1_uc001rbp.2_Silent_p.P61P|GSG1_uc001rbq.1_Silent_p.P61P	p.P61P	NM_001080555	NP_001074024	Q2KHT4	GSG1_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	2	356	-		Prostate(47;0.183)	48					Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Silent	SNP	ENST00000432710.2	37	c.183C>T	CCDS55808.1																																																																																				0.542	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1	NM_031289		25	69	0	0	0	0	25	69				
PFKM	5213	broad.mit.edu	37	12	48526750	48526750	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:48526750C>A	ENST00000312352.7	+	5	376	c.337C>A	c.(337-339)Ctc>Atc	p.L113I	PFKM_ENST00000395233.2_Missense_Mutation_p.L113I|PFKM_ENST00000551804.1_Missense_Mutation_p.L113I|PFKM_ENST00000359794.5_Missense_Mutation_p.L113I|PFKM_ENST00000547587.1_Missense_Mutation_p.L113I|PFKM_ENST00000340802.6_Missense_Mutation_p.L184I	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	113	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GATCACCAATCTCTGTGTCAT	0.567																																						uc001rrc.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(337-339)CTC>ATC		phosphofructokinase, muscle							122.0	110.0	114.0					12																	48526750		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48526750C>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.337C>A	12.37:g.48526750C>A	ENSP00000309438:p.Leu113Ile					PFKM_uc001rra.1_5'UTR|PFKM_uc001rrb.1_Missense_Mutation_p.L184I|PFKM_uc001rrd.2_5'UTR|PFKM_uc001rre.1_Missense_Mutation_p.L113I|PFKM_uc001rrg.1_Missense_Mutation_p.L113I	p.L113I	NM_000289	NP_000280	P08237	K6PF_HUMAN			5	507	+			113					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.337C>A	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148969	0.78001	.	.	ENSG00000152556	ENST00000550345;ENST00000549003;ENST00000549941;ENST00000340802;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352	D;D;D;D;D;D;D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	4.67	3.78	0.43462	Phosphofructokinase domain (2);	0.000000	0.64402	D	0.000001	D	0.94479	0.8223	M	0.84585	2.705	0.58432	D	0.999998	P;P;D	0.62365	0.929;0.804;0.991	P;D;D	0.68483	0.754;0.915;0.958	D	0.94302	0.7538	10	0.72032	D	0.01	-11.9205	8.9481	0.35771	0.0:0.8251:0.0:0.1749	.	113;113;184	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	I	113;113;146;184;113;113;113;113;113;113;113;113	ENSP00000450369:L113I;ENSP00000449835:L113I;ENSP00000446829:L146I;ENSP00000345771:L184I;ENSP00000352842:L113I;ENSP00000448253:L113I;ENSP00000378656:L113I;ENSP00000449269:L113I;ENSP00000448177:L113I;ENSP00000446805:L113I;ENSP00000449426:L113I;ENSP00000309438:L113I	ENSP00000309438:L113I	L	+	1	0	PFKM	46813017	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.561000	0.45905	1.563000	0.49615	0.650000	0.86243	CTC		0.567	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		14	60	1	0	0.00244969	0.00299273	14	60				
HSD17B6	8630	broad.mit.edu	37	12	57167654	57167654	+	Silent	SNP	G	G	A	rs529002460		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:57167654G>A	ENST00000554643.1	+	3	367	c.18G>A	c.(16-18)gcG>gcA	p.A6A	HSD17B6_ENST00000322165.1_Silent_p.A6A|HSD17B6_ENST00000554150.1_Silent_p.A6A|HSD17B6_ENST00000555805.1_Silent_p.A6A|HSD17B6_ENST00000555159.1_Silent_p.A6A			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	6					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TCTACCTGGCGGCCTTCGTGG	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21392	0.0		0.0	False		,,,				2504	0.0					uc001smg.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(16-18)GCG>GCA		hydroxysteroid (17-beta) dehydrogenase 6	Succinic acid(DB00139)						62.0	63.0	62.0					12																	57167654		2203	4300	6503	SO:0001819	synonymous_variant	8630				androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr12:57167654G>A	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.18G>A	12.37:g.57167654G>A							p.A6A	NM_003725	NP_003716	O14756	H17B6_HUMAN			2	128	+			6					O43275	Silent	SNP	ENST00000554643.1	37	c.18G>A	CCDS8925.1																																																																																				0.463	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725		14	65	0	0	0	0	14	65				
LRP1	4035	broad.mit.edu	37	12	57560805	57560805	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:57560805C>G	ENST00000243077.3	+	18	3356	c.2890C>G	c.(2890-2892)Cgc>Ggc	p.R964G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	964	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGTGGGGACCGCTCTGATGA	0.657																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(2890-2892)CGC>GGC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						154.0	134.0	141.0					12																	57560805		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57560805C>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2890C>G	12.37:g.57560805C>G	ENSP00000243077:p.Arg964Gly					LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank	p.R964G	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	18	3356	+			964			LDL-receptor class A 5.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.2890C>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589199	0.46110	.	.	ENSG00000123384	ENST00000243077	D	0.93906	-3.31	4.72	4.72	0.59763	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.85017	0.5601	N	0.00191	-1.88	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.83048	-0.0154	10	0.02654	T	1	.	16.9817	0.86329	0.0:1.0:0.0:0.0	.	964	Q07954	LRP1_HUMAN	G	964	ENSP00000243077:R964G	ENSP00000243077:R964G	R	+	1	0	LRP1	55847072	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.491000	0.45303	2.619000	0.88677	0.561000	0.74099	CGC		0.657	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		20	87	0	0	0	0	20	87				
WIF1	11197	broad.mit.edu	37	12	65461539	65461539	+	Silent	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:65461539G>C	ENST00000286574.4	-	5	944	c.570C>G	c.(568-570)ggC>ggG	p.G190G		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	190	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CATTACAAAAGCCTCCATTTC	0.507			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	uc001ssk.2		NA		Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				ovary(2)|lung(1)|skin(1)	4						c.(568-570)GGC>GGG		WNT inhibitory factor 1 precursor							89.0	80.0	83.0					12																	65461539		2203	4300	6503	SO:0001819	synonymous_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65461539G>C	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.570C>G	12.37:g.65461539G>C							p.G190G	NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	5	715	-			190			EGF-like 1.		Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	c.570C>G	CCDS8971.1																																																																																				0.507	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			9	26	0	0	0	0	9	26				
GNPTAB	79158	broad.mit.edu	37	12	102159938	102159938	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:102159938C>G	ENST00000299314.7	-	12	1805	c.1543G>C	c.(1543-1545)Gct>Cct	p.A515P	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	515					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AACTTATCAGCGAGCCAGGAA	0.483																																						uc001tit.2		NA																	0				ovary(1)|skin(1)	2						c.(1543-1545)GCT>CCT		N-acetylglucosamine-1-phosphate transferase							194.0	175.0	182.0					12																	102159938		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102159938C>G	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1543G>C	12.37:g.102159938C>G	ENSP00000299314:p.Ala515Pro						p.A515P	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN			12	1722	-			515			LNR 2.		A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.1543G>C	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.847028	0.91277	.	.	ENSG00000111670	ENST00000299314	D	0.91740	-2.9	5.44	4.55	0.56014	Notch domain (3);	0.106321	0.64402	D	0.000005	D	0.94473	0.8221	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95072	0.8205	10	0.72032	D	0.01	-21.0029	16.5703	0.84609	0.0:0.8694:0.1306:0.0	.	515	Q3T906	GNPTA_HUMAN	P	515	ENSP00000299314:A515P	ENSP00000299314:A515P	A	-	1	0	GNPTAB	100684069	1.000000	0.71417	0.787000	0.31911	0.967000	0.64934	7.160000	0.77495	1.421000	0.47157	0.655000	0.94253	GCT		0.483	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			31	114	0	0	0	0	31	114				
STAB2	55576	broad.mit.edu	37	12	104063402	104063402	+	Silent	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:104063402A>G	ENST00000388887.2	+	21	2460	c.2256A>G	c.(2254-2256)ggA>ggG	p.G752G	RP11-341G23.3_ENST00000550175.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											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						CAGGAAATGGACAGGTGAATA	0.413																																						uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(2254-2256)GGA>GGG		stabilin 2 precursor							101.0	98.0	99.0					12																	104063402		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.chr12:104063402A>G	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.2256A>G	12.37:g.104063402A>G							p.G752G	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			21	2442	+			752			Extracellular (Potential).|EGF-like 6.			Silent	SNP	ENST00000388887.2	37	c.2256A>G	CCDS31888.1																																																																																				0.413	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			13	67	0	0	0	0	13	67				
SVOP	55530	broad.mit.edu	37	12	109328032	109328032	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:109328032G>C	ENST00000299134.5	-	9	790	c.791C>G	c.(790-792)tCt>tGt	p.S264C		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	ion transmembrane transporter activity (GO:0015075)			breast(2)|lung(4)	6						CGTAGTAAGAGAATGCATTGG	0.493																																						uc010sxh.1		NA																	0					0						c.(985-987)TTC>TTG		SV2 related protein							54.0	56.0	55.0					12																	109328032		1924	4128	6052	SO:0001583	missense	55530					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity	g.chr12:109328032G>C	BC033587	CCDS73520.1	12q24.11	2011-07-12				ENSG00000166111			25417	protein-coding gene	gene with protein product		611699					Standard	NM_018711		Approved	DKFZp761H039	uc010sxh.1	Q8N4V2		ENST00000299134.5:c.791C>G	12.37:g.109328032G>C	ENSP00000299134:p.Ser264Cys						p.F329L	NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN			10	1159	-			329			Helical; (Potential).		Q9NPW5	Missense_Mutation	SNP	ENST00000299134.5	37	c.987C>G		.	.	.	.	.	.	.	.	.	.	G	20.4	3.987836	0.74589	.	.	ENSG00000166111	ENST00000299134	.	.	.	5.32	-1.71	0.08133	.	.	.	.	.	T	0.51991	0.1707	L	0.53561	1.675	.	.	.	.	.	.	.	.	.	T	0.58814	-0.7570	4	.	.	.	-19.1986	11.1627	0.48524	0.4344:0.0:0.5656:0.0	.	.	.	.	C	264	.	.	S	-	2	0	SVOP	107852161	1.000000	0.71417	0.846000	0.33378	0.958000	0.62258	1.633000	0.37113	-0.583000	0.05921	-0.345000	0.07892	TCT		0.493	SVOP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic	protein_coding	protein_coding	OTTHUMT00000403982.1	NM_018711		4	10	0	0	0	0	4	10				
HCAR3	8843	broad.mit.edu	37	12	123200718	123200718	+	Silent	SNP	G	G	A	rs553858673		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:123200718G>A	ENST00000528880.2	-	1	721	c.567C>T	c.(565-567)caC>caT	p.H189H	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	189					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	ACATAGCTTCGTGCCACCGGA	0.537																																						uc001ucy.3		NA																	0				ovary(1)|skin(1)	2						c.(565-567)CAC>CAT		G protein-coupled receptor 109B	Mepenzolate(DB04843)|Niacin(DB00627)						87.0	89.0	88.0					12																	123200718		2203	4300	6503	SO:0001819	synonymous_variant	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200718G>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.567C>T	12.37:g.123200718G>A						GPR81_uc001ucw.1_Intron	p.H189H	NM_006018	NP_006009	P49019	HCAR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	722	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		189			Extracellular (Potential).		A8K4G5|B2R830|E9PI97|Q8NGE4	Silent	SNP	ENST00000528880.2	37	c.567C>T	CCDS53842.1																																																																																				0.537	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018		17	66	0	0	0	0	17	66				
PUS1	80324	broad.mit.edu	37	12	132425944	132425944	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr12:132425944C>G	ENST00000376649.3	+	5	1152	c.652C>G	c.(652-654)Cag>Gag	p.Q218E	PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.Q190E|PUS1_ENST00000443358.2_Missense_Mutation_p.Q190E|PUS1_ENST00000542167.2_Missense_Mutation_p.Q165E	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	218					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCGGGACGTTCAGGATGAGAC	0.592																																					Esophageal Squamous(102;671 2009 17384 45666)	uc001ujf.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(652-654)CAG>GAG		pseudouridine synthase 1 isoform 1							113.0	93.0	100.0					12																	132425944		2203	4300	6503	SO:0001583	missense	80324					mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding	g.chr12:132425944C>G	AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.652C>G	12.37:g.132425944C>G	ENSP00000365837:p.Gln218Glu					PUS1_uc001ujg.2_Missense_Mutation_p.Q190E|PUS1_uc001ujh.2_Missense_Mutation_p.Q190E|PUS1_uc001uji.2_Missense_Mutation_p.Q165E	p.Q218E	NM_025215	NP_079491	Q9Y606	TRUA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)	5	1131	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		218					A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	ENST00000376649.3	37	c.652C>G	CCDS9275.2	.	.	.	.	.	.	.	.	.	.	C	4.484	0.089726	0.08632	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167;ENST00000537484	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.99	5.37	5.37	0.77165	Pseudouridine synthase I, TruA, C-terminal (1);Pseudouridine synthase, catalytic domain (1);	0.323979	0.34484	N	0.003923	T	0.31606	0.0802	N	0.16708	0.43	0.44439	D	0.997363	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.004	T	0.22138	-1.0225	10	0.02654	T	1	-22.8565	19.1082	0.93305	0.0:1.0:0.0:0.0	.	165;218	F5H1S9;Q9Y606	.;TRUA_HUMAN	E	190;218;190;190;165;193	ENSP00000392451:Q190E;ENSP00000365837:Q218E;ENSP00000324726:Q190E;ENSP00000400032:Q190E;ENSP00000438948:Q165E;ENSP00000440179:Q193E	ENSP00000324726:Q190E	Q	+	1	0	PUS1	130991897	0.994000	0.37717	0.954000	0.39281	0.789000	0.44602	4.024000	0.57218	2.524000	0.85096	0.561000	0.74099	CAG		0.592	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250313.2	NM_025215		8	48	0	0	0	0	8	48				
LIG4	3981	broad.mit.edu	37	13	108862659	108862659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr13:108862659T>G	ENST00000356922.4	-	2	1230	c.958A>C	c.(958-960)Aaa>Caa	p.K320Q	LIG4_ENST00000405925.1_Missense_Mutation_p.K320Q|LIG4_ENST00000442234.1_Missense_Mutation_p.K320Q	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	320					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATATCTGCTTTGAATGCATTA	0.338								Non-homologous end-joining																														uc001vqn.2		NA																	0					0						c.(958-960)AAA>CAA	NHEJ	DNA ligase IV							92.0	92.0	92.0					13																	108862659		2203	4299	6502	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862659T>G	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.958A>C	13.37:g.108862659T>G	ENSP00000349393:p.Lys320Gln					LIG4_uc001vqo.2_Missense_Mutation_p.K320Q|LIG4_uc010agg.1_Missense_Mutation_p.K253Q|LIG4_uc010agf.2_Missense_Mutation_p.K320Q|LIG4_uc001vqp.2_Missense_Mutation_p.K320Q	p.K320Q	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	1231	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		320					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.958A>C	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	1.291	-0.607545	0.03717	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.81078	-1.45;-1.45;-1.45	5.53	-4.76	0.03229	DNA ligase, ATP-dependent, central (1);	0.685311	0.15570	N	0.255472	T	0.65657	0.2712	L	0.38649	1.16	0.09310	N	1	B	0.09022	0.002	B	0.19148	0.024	T	0.52049	-0.8627	10	0.16896	T	0.51	.	11.3821	0.49763	0.0:0.0639:0.5609:0.3752	.	320	P49917	DNLI4_HUMAN	Q	320	ENSP00000385955:K320Q;ENSP00000402030:K320Q;ENSP00000349393:K320Q	ENSP00000349393:K320Q	K	-	1	0	LIG4	107660660	0.016000	0.18221	0.013000	0.15412	0.489000	0.33432	0.109000	0.15417	-0.585000	0.05905	-0.307000	0.09154	AAA		0.338	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		35	30	0	0	0	0	35	30				
ARHGEF7	8874	broad.mit.edu	37	13	111953845	111953845	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr13:111953845A>G	ENST00000218789.5	+	20	2458	c.1961A>G	c.(1960-1962)tAt>tGt	p.Y654C	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.Y680C|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.Y595C|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.Y670C|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.Y595C			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GATACCGTATATGCATTAAAG	0.368																																						uc010tjo.1		NA																	0				ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(2008-2010)TAT>TGT		PAK-interacting exchange factor beta isoform a							285.0	240.0	255.0					13																	111953845		2203	4300	6503	SO:0001583	missense	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111953845A>G	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000218789.5:c.1961A>G	13.37:g.111953845A>G	ENSP00000218789:p.Tyr654Cys					ARHGEF7_uc001vrv.3_Missense_Mutation_p.Y595C|ARHGEF7_uc001vrw.3_Missense_Mutation_p.Y595C|ARHGEF7_uc001vrx.3_Missense_Mutation_p.Y595C	p.Y670C	NM_003899	NP_003890	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		19	2061	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		Error:Variant_position_missing_in_Q14155_after_alignment					B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000218789.5	37	c.2009A>G		.	.	.	.	.	.	.	.	.	.	A	13.86	2.363740	0.41902	.	.	ENSG00000102606	ENST00000370623;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737	T;T;T;T;T	0.78595	-0.01;-1.19;0.01;0.01;-0.01	4.65	4.65	0.58169	.	.	.	.	.	D	0.86871	0.6037	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.88594	0.3145	9	0.72032	D	0.01	.	14.3837	0.66929	1.0:0.0:0.0:0.0	.	670	B7Z6G2	.	C	680;654;595;595;670	ENSP00000359657:Y680C;ENSP00000218789:Y654C;ENSP00000364888:Y595C;ENSP00000397068:Y595C;ENSP00000364889:Y670C	ENSP00000218789:Y654C	Y	+	2	0	ARHGEF7	110751846	1.000000	0.71417	0.264000	0.24511	0.048000	0.14542	8.353000	0.90077	1.869000	0.54173	0.454000	0.30748	TAT		0.368	ARHGEF7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000045805.3	NM_001113511		39	37	0	0	0	0	39	37				
LRP10	26020	broad.mit.edu	37	14	23346653	23346653	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:23346653G>C	ENST00000359591.4	+	7	2750	c.2059G>C	c.(2059-2061)Gat>Cat	p.D687H	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_3'UTR	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	687					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGCCCTGGAAGATGAGGACGA	0.682																																						uc001whd.2		NA																	0				central_nervous_system(1)	1						c.(2059-2061)GAT>CAT		low density lipoprotein receptor-related protein							31.0	34.0	33.0					14																	23346653		2202	4300	6502	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346653G>C	AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.2059G>C	14.37:g.23346653G>C	ENSP00000352601:p.Asp687His					LRP10_uc001whe.2_Intron	p.D687H	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	7	2612	+	all_cancers(95;4.69e-05)		687			Cytoplasmic (Potential).		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.2059G>C	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751337	0.49257	.	.	ENSG00000197324	ENST00000359591	D	0.93366	-3.21	4.97	4.97	0.65823	.	0.416703	0.26959	N	0.021638	D	0.92051	0.7481	L	0.36672	1.1	0.80722	D	1	D	0.56746	0.977	P	0.49708	0.62	D	0.92881	0.6323	10	0.87932	D	0	-17.2472	15.5955	0.76574	0.0:0.0:1.0:0.0	.	687	Q7Z4F1	LRP10_HUMAN	H	687	ENSP00000352601:D687H	ENSP00000352601:D687H	D	+	1	0	LRP10	22416493	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	3.737000	0.55060	2.745000	0.94114	0.462000	0.41574	GAT		0.682	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			12	46	0	0	0	0	12	46				
COCH	1690	broad.mit.edu	37	14	31346874	31346874	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:31346874C>G	ENST00000396618.3	+	4	235	c.179C>G	c.(178-180)tCt>tGt	p.S60C	COCH_ENST00000216361.4_Missense_Mutation_p.S60C|COCH_ENST00000475087.1_Missense_Mutation_p.S60C|COCH_ENST00000460581.2_5'UTR|COCH_ENST00000382493.4_5'Flank|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	60	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GAGGAATTCTCTGTGTATGGG	0.507																																						uc001wqr.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(178-180)TCT>TGT		cochlin precursor							119.0	115.0	116.0					14																	31346874		2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31346874C>G		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.179C>G	14.37:g.31346874C>G	ENSP00000379862:p.Ser60Cys					COCH_uc001wqp.2_Missense_Mutation_p.S60C|COCH_uc001wqq.3_Missense_Mutation_p.S60C|uc001wqs.2_Intron|COCH_uc001wqt.1_5'Flank	p.S60C	NM_004086	NP_004077	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	4	259	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		60			LCCL.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.179C>G	CCDS9640.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.358723	0.41801	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000556908	D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6	5.74	4.78	0.61160	LCCL (5);	0.243730	0.43919	D	0.000517	D	0.89983	0.6873	M	0.64997	1.995	0.80722	D	1	P;P	0.50710	0.938;0.938	P;P	0.50791	0.65;0.65	D	0.89846	0.4006	10	0.51188	T	0.08	-11.1471	13.3281	0.60471	0.2294:0.7706:0.0:0.0	.	60;60	Q96IU6;O43405	.;COCH_HUMAN	C	60;60;60;44	ENSP00000216361:S60C;ENSP00000379862:S60C;ENSP00000451528:S60C;ENSP00000452541:S44C	ENSP00000216361:S60C	S	+	2	0	COCH	30416625	0.981000	0.34729	0.981000	0.43875	0.932000	0.56968	3.384000	0.52478	2.716000	0.92895	0.561000	0.74099	TCT		0.507	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		9	34	0	0	0	0	9	34				
AHNAK2	113146	broad.mit.edu	37	14	105415341	105415341	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr14:105415341T>A	ENST00000333244.5	-	7	6566	c.6447A>T	c.(6445-6447)aaA>aaT	p.K2149N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2149						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACTTGCTGTCTTTGGTAGTCA	0.592																																						uc010axc.1		NA																	0				ovary(1)	1						c.(6445-6447)AAA>AAT		AHNAK nucleoprotein 2							221.0	144.0	172.0					14																	105415341		1988	3500	5488	SO:0001583	missense	113146					nucleus		g.chr14:105415341T>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6447A>T	14.37:g.105415341T>A	ENSP00000353114:p.Lys2149Asn					AHNAK2_uc001ypx.2_Missense_Mutation_p.K2049N	p.K2149N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	6567	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2149					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.6447A>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	12.75	2.030892	0.35797	.	.	ENSG00000185567	ENST00000333244	T	0.01947	4.54	4.35	-2.49	0.06403	.	.	.	.	.	T	0.12008	0.0292	M	0.87180	2.865	0.09310	N	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.01508	-1.1337	9	0.39692	T	0.17	.	12.5129	0.56015	0.0:0.5632:0.0:0.4368	.	2149	Q8IVF2	AHNK2_HUMAN	N	2149	ENSP00000353114:K2149N	ENSP00000353114:K2149N	K	-	3	2	AHNAK2	104486386	0.014000	0.17966	0.007000	0.13788	0.055000	0.15305	-0.733000	0.04898	-0.440000	0.07211	0.254000	0.18369	AAA		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		195	598	0	0	0	0	195	598				
NIPA2	81614	broad.mit.edu	37	15	23006379	23006379	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:23006379G>A	ENST00000337451.3	-	8	1537	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	NIPA2_ENST00000359727.4_Silent_p.L290L|NIPA2_ENST00000398014.2_Silent_p.L309L|NIPA2_ENST00000398013.3_Silent_p.L309L|NIPA2_ENST00000539711.2_Silent_p.L290L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	309						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GACACAGGCAGACTTGCTAGA	0.373																																						uc001yux.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(925-927)CTG>TTG		non imprinted in Prader-Willi/Angelman syndrome							63.0	61.0	61.0					15																	23006379		2203	4300	6503	SO:0001819	synonymous_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23006379G>A	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.925C>T	15.37:g.23006379G>A						NIPA2_uc001yuy.2_Silent_p.L309L|NIPA2_uc001yuz.2_Silent_p.L309L|NIPA2_uc001yva.2_Silent_p.L290L|NIPA2_uc001yvb.2_Silent_p.L309L|NIPA2_uc010ayb.2_Silent_p.L290L	p.L309L	NM_030922	NP_112184	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	8	1538	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	309			Cytoplasmic (Potential).		F8W7Y8|Q96F03|Q9BVS2	Silent	SNP	ENST00000337451.3	37	c.925C>T	CCDS10010.1																																																																																				0.373	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		20	30	0	0	0	0	20	30				
SEMA6D	80031	broad.mit.edu	37	15	48060874	48060874	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:48060874C>G	ENST00000316364.5	+	18	2301	c.1862C>G	c.(1861-1863)tCt>tGt	p.S621C	SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.S621C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.S602C|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000358066.4_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	621					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTGACAAGCTCTCGGAAATTT	0.428																																						uc010bek.2		NA																	0				skin(3)|breast(1)	4						c.(1861-1863)TCT>TGT		semaphorin 6D isoform 4 precursor							118.0	112.0	114.0					15																	48060874		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48060874C>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1862C>G	15.37:g.48060874C>G	ENSP00000324857:p.Ser621Cys					SEMA6D_uc001zvw.2_Intron|SEMA6D_uc001zvy.2_Missense_Mutation_p.S621C|SEMA6D_uc001zvz.2_Intron|SEMA6D_uc001zwa.2_Intron|SEMA6D_uc001zwb.2_Intron|SEMA6D_uc001zwc.2_Intron	p.S621C	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	18	2222	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	621			Extracellular (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.1862C>G	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578794	0.86645	.	.	ENSG00000137872	ENST00000536845;ENST00000316364;ENST00000389433	T;T;T	0.18810	2.19;2.19;2.21	5.49	5.49	0.81192	.	0.000000	0.56097	D	0.000028	T	0.16300	0.0392	N	0.08118	0	0.80722	D	1	P	0.39576	0.679	B	0.40702	0.338	T	0.09885	-1.0654	10	0.56958	D	0.05	.	19.7433	0.96241	0.0:1.0:0.0:0.0	.	621	Q8NFY4	SEM6D_HUMAN	C	621;621;602	ENSP00000446152:S621C;ENSP00000324857:S621C;ENSP00000374084:S602C	ENSP00000324857:S621C	S	+	2	0	SEMA6D	45848166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.988000	0.76212	2.733000	0.93635	0.655000	0.94253	TCT		0.428	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		35	55	0	0	0	0	35	55				
LIPC	3990	broad.mit.edu	37	15	58840724	58840724	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:58840724A>G	ENST00000356113.6	+	8	1619	c.1004A>G	c.(1003-1005)aAg>aGg	p.K335R	LIPC_ENST00000299022.5_Missense_Mutation_p.K335R|LIPC_ENST00000433326.2_Missense_Mutation_p.K274R|LIPC_ENST00000414170.3_Missense_Mutation_p.K335R			P11150	LIPC_HUMAN	lipase, hepatic	335					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CCGCGGAGCAAGAGCAAGAGG	0.627																																						uc010bga.1		NA																	0				ovary(1)	1						c.(1003-1005)AAG>AGG		lipase C precursor							24.0	24.0	24.0					15																	58840724		2192	4291	6483	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58840724A>G		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1004A>G	15.37:g.58840724A>G	ENSP00000348425:p.Lys335Arg					LIPC_uc010bfz.1_Missense_Mutation_p.K335R|LIPC_uc002afa.1_Missense_Mutation_p.K335R|LIPC_uc010bgb.1_Missense_Mutation_p.K233R|LIPC_uc010ugy.1_Missense_Mutation_p.K274R	p.K335R	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	8	1612	+		Colorectal(260;0.215)	335					A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.1004A>G	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	A	1.306	-0.603551	0.03717	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	5.91	-0.403	0.12400	Lipase, N-terminal (1);	0.384136	0.26489	N	0.024098	T	0.80423	0.4620	N	0.25992	0.78	0.09310	N	0.999999	B;B	0.20368	0.004;0.044	B;B	0.28553	0.03;0.091	T	0.62416	-0.6859	10	0.02654	T	1	.	10.665	0.45726	0.6138:0.0:0.3862:0.0	.	274;335	E7EUK6;P11150	.;LIPC_HUMAN	R	335;335;335;274	ENSP00000348425:K335R;ENSP00000395569:K335R;ENSP00000299022:K335R;ENSP00000395002:K274R	ENSP00000299022:K335R	K	+	2	0	LIPC	56628016	0.061000	0.20836	0.876000	0.34364	0.326000	0.28443	0.281000	0.18810	-0.049000	0.13379	0.533000	0.62120	AAG		0.627	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			8	17	0	0	0	0	8	17				
STOML1	9399	broad.mit.edu	37	15	74284510	74284510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:74284510G>A	ENST00000316900.5	-	1	179	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	PML_ENST00000268058.3_5'Flank|PML_ENST00000565898.1_5'Flank|PML_ENST00000569477.1_5'Flank|PML_ENST00000435786.2_5'Flank|PML_ENST00000436891.3_5'Flank|PML_ENST00000567543.1_5'Flank|PML_ENST00000569965.1_5'Flank|PML_ENST00000395132.2_5'Flank|PML_ENST00000354026.6_5'Flank|PML_ENST00000268059.6_5'Flank|PML_ENST00000563500.1_5'Flank|PML_ENST00000359928.4_5'Flank|PML_ENST00000564428.1_5'Flank|STOML1_ENST00000564777.1_Nonsense_Mutation_p.Q19*|STOML1_ENST00000316911.6_Nonsense_Mutation_p.Q19*|STOML1_ENST00000561656.1_Intron|STOML1_ENST00000359750.4_Nonsense_Mutation_p.Q19*|PML_ENST00000395135.3_5'Flank|STOML1_ENST00000541638.1_5'UTR	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	19						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTCGACTGCTGGAAGCGGTCA	0.716																																						uc002awe.2		NA																	0				skin(1)	1						c.(55-57)CAG>TAG		stomatin (EPB72)-like 1							21.0	26.0	24.0					15																	74284510		2191	4291	6482	SO:0001587	stop_gained	9399					integral to membrane	sterol binding	g.chr15:74284510G>A	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.55C>T	15.37:g.74284510G>A	ENSP00000319323:p.Gln19*					PML_uc002awm.2_5'Flank|PML_uc002awl.2_5'Flank|PML_uc002awj.1_5'Flank|PML_uc002awk.2_5'Flank|PML_uc002awn.2_5'Flank|PML_uc002awo.2_5'Flank|PML_uc002awp.2_5'Flank|PML_uc002awq.2_5'Flank|PML_uc002awr.2_5'Flank|PML_uc002aws.2_5'Flank|PML_uc002awt.2_5'Flank|PML_uc002awu.2_5'Flank|PML_uc002awv.2_5'Flank|PML_uc010ule.1_5'Flank|STOML1_uc002awf.2_Nonsense_Mutation_p.Q19*|STOML1_uc010bje.2_Nonsense_Mutation_p.Q19*|STOML1_uc010uld.1_5'UTR|STOML1_uc002awh.2_Nonsense_Mutation_p.Q19*|STOML1_uc002awg.2_Nonsense_Mutation_p.Q19*|STOML1_uc002awi.2_Intron	p.Q19*	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN			1	126	-			19					B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Nonsense_Mutation	SNP	ENST00000316900.5	37	c.55C>T	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	G	37	6.038860	0.97226	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000359750	.	.	.	4.29	4.29	0.51040	.	0.696895	0.14184	N	0.335804	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-11.8921	12.127	0.53922	0.0:0.0:1.0:0.0	.	.	.	.	X	19	.	ENSP00000319323:Q19X	Q	-	1	0	STOML1	72071563	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.390000	0.66261	2.227000	0.72691	0.561000	0.74099	CAG		0.716	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809		7	55	0	0	0	0	7	55				
ADAMTS7	11173	broad.mit.edu	37	15	79059275	79059275	+	Missense_Mutation	SNP	A	A	G	rs535910575	byFrequency	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr15:79059275A>G	ENST00000388820.4	-	19	3188	c.2978T>C	c.(2977-2979)cTc>cCc	p.L993P	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	993	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACCGACAGAGTGGCAGAGA	0.652													N|||	5	0.000998403	0.0008	0.0014	5008	,	,		16957	0.003		0.0	False		,,,				2504	0.0					uc002bej.3		NA																	0					0						c.(2977-2979)CTC>CCC		ADAM metallopeptidase with thrombospondin type 1							29.0	31.0	30.0					15																	79059275		2191	4285	6476	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059275A>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2978T>C	15.37:g.79059275A>G	ENSP00000373472:p.Leu993Pro					ADAMTS7_uc010und.1_3'UTR	p.L993P	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			19	3189	-			993			TSP type-1 4.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2978T>C	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.237723	0.01493	.	.	ENSG00000136378	ENST00000388820	T	0.49139	0.79	4.57	2.53	0.30540	.	0.446962	0.23017	N	0.052885	T	0.09379	0.0231	N	0.00068	-2.285	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33007	-0.9885	10	0.19147	T	0.46	.	5.1979	0.15249	0.1803:0.0:0.5883:0.2315	.	993	Q9UKP4	ATS7_HUMAN	P	993	ENSP00000373472:L993P	ENSP00000373472:L993P	L	-	2	0	ADAMTS7	76846330	0.934000	0.31675	0.006000	0.13384	0.037000	0.13140	1.514000	0.35834	0.371000	0.24564	-0.970000	0.02610	CTC		0.652	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	68	0	0	0	0	3	68				
PRR25	388199	broad.mit.edu	37	16	855768	855768	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr16:855768C>T	ENST00000301698.1	+	1	326	c.326C>T	c.(325-327)aCc>aTc	p.T109I		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	109										large_intestine(1)|lung(1)|skin(1)	3						GAGGTACAGACCGTTCCAGGG	0.667																																						uc010uut.1		NA																	0				large_intestine(1)	1						c.(325-327)ACC>ATC		proline rich 25							19.0	25.0	23.0					16																	855768		1955	4140	6095	SO:0001583	missense	388199							g.chr16:855768C>T	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.326C>T	16.37:g.855768C>T	ENSP00000301698:p.Thr109Ile						p.T109I	NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN			1	326	+			109						Missense_Mutation	SNP	ENST00000301698.1	37	c.326C>T	CCDS45372.1	.	.	.	.	.	.	.	.	.	.	C	5.745	0.321864	0.10845	.	.	ENSG00000167945	ENST00000301698	T	0.37058	1.22	0.43	0.43	0.16515	.	.	.	.	.	T	0.37293	0.0998	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	D	0.65323	0.934	T	0.18461	-1.0336	9	0.87932	D	0	.	6.637	0.22889	0.0:0.9999:0.0:1.0E-4	.	109	Q96S07	PRR25_HUMAN	I	109	ENSP00000301698:T109I	ENSP00000301698:T109I	T	+	2	0	PRR25	795769	0.001000	0.12720	0.005000	0.12908	0.004000	0.04260	-0.180000	0.09754	0.459000	0.27016	0.462000	0.41574	ACC		0.667	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		6	20	0	0	0	0	6	20				
UBN1	29855	broad.mit.edu	37	16	4903155	4903155	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr16:4903155G>C	ENST00000396658.4	+	1	940	c.237G>C	c.(235-237)caG>caC	p.Q79H	UBN1_ENST00000545171.1_Missense_Mutation_p.Q79H|UBN1_ENST00000590769.1_Missense_Mutation_p.Q79H|UBN1_ENST00000262376.6_Missense_Mutation_p.Q79H	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	79	Sufficient for interaction with HIRA.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAGGCCTTCAGCCTGGAGATA	0.537																																						uc002cyb.2		NA																	0				skin(2)	2						c.(235-237)CAG>CAC		ubinuclein 1							67.0	67.0	67.0					16																	4903155		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4903155G>C	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.237G>C	16.37:g.4903155G>C	ENSP00000379894:p.Gln79His					UBN1_uc010uxw.1_Missense_Mutation_p.Q79H|UBN1_uc002cyc.2_Missense_Mutation_p.Q79H	p.Q79H	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN			2	576	+			79			Sufficient for interaction with HIRA.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.237G>C	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	G	4.733	0.136299	0.09032	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.44482	1.5;0.92;1.5	5.85	-6.42	0.01932	.	0.469540	0.21331	N	0.076283	T	0.16041	0.0386	N	0.14661	0.345	0.09310	N	0.999994	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.29579	-1.0007	10	0.11485	T	0.65	-5.1543	7.5648	0.27872	0.5319:0.0:0.2529:0.2152	.	79;79	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	H	79	ENSP00000262376:Q79H;ENSP00000442379:Q79H;ENSP00000379894:Q79H	ENSP00000262376:Q79H	Q	+	3	2	UBN1	4843156	0.000000	0.05858	0.023000	0.16930	0.248000	0.25809	-1.518000	0.02246	-1.035000	0.03291	-0.339000	0.08088	CAG		0.537	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		11	38	0	0	0	0	11	38				
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	rs587780073		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:7577580T>C	ENST00000269305.4	-	7	890	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000420246.2_Missense_Mutation_p.Y234C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGTAGTTGTAGTGGATGGT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		141	Substitution - Missense(115)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(5)	p.Y234C(70)|p.Y234H(13)|p.Y234N(11)|p.0?(7)|p.Y234S(6)|p.Y234*(4)|p.Y234D(3)|p.Y234del(3)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y234fs*6(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.Y234R(1)|p.Y234Y(1)|p.H233_C242del10(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232_Y236delIHYNY(1)|p.Y141S(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234_N235insX(1)|p.I232fs*5(1)	lung(32)|haematopoietic_and_lymphoid_tissue(17)|breast(17)|ovary(15)|central_nervous_system(10)|urinary_tract(9)|upper_aerodigestive_tract(8)|oesophagus(7)|biliary_tract(6)|large_intestine(5)|kidney(4)|bone(4)|cervix(2)|stomach(2)|adrenal_gland(1)|skin(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM035576	TP53	M		c.(700-702)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							119.0	95.0	103.0					17																	7577580		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577580T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.701A>G	17.37:g.7577580T>C	ENSP00000269305:p.Tyr234Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.2_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C	p.Y234C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	895	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	234		Y -> F (in a sporadic cancer; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.701A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146603	0.57044	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	4.62	3.49	0.39957	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.211900	0.41823	D	0.000804	D	0.99778	0.9908	M	0.88105	2.93	0.51012	D	0.999909	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.91635	0.982;0.998;0.997;0.985;0.994;0.999	D	0.98045	1.0384	10	0.87932	D	0	-10.1131	9.0203	0.36195	0.1783:0.0:0.0:0.8216	.	234;234;141;234;234;234	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	234;234;234;234;234;234;223;141;102;141	ENSP00000410739:Y234C;ENSP00000352610:Y234C;ENSP00000269305:Y234C;ENSP00000398846:Y234C;ENSP00000391127:Y234C;ENSP00000391478:Y234C;ENSP00000425104:Y102C;ENSP00000423862:Y141C	ENSP00000269305:Y234C	Y	-	2	0	TP53	7518305	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.037000	0.41174	0.835000	0.34877	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		45	25	0	0	0	0	45	25				
MYH8	4626	broad.mit.edu	37	17	10303758	10303758	+	Missense_Mutation	SNP	C	C	A	rs368839272		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:10303758C>A	ENST00000403437.2	-	27	3778	c.3684G>T	c.(3682-3684)aaG>aaT	p.K1228N	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1228					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGTCTCCATCTTCAGCTCAC	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(3682-3684)AAG>AAT		myosin, heavy chain 8, skeletal muscle,							186.0	167.0	173.0					17																	10303758		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10303758C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3684G>T	17.37:g.10303758C>A	ENSP00000384330:p.Lys1228Asn					uc002gml.1_Intron	p.K1228N	NM_002472	NP_002463	P13535	MYH8_HUMAN			27	3779	-			1228			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3684G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437761	0.62955	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.78816	-1.21	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.43747	U	0.000537	D	0.89556	0.6749	M	0.90369	3.11	0.45172	D	0.998181	D	0.53745	0.962	P	0.60068	0.868	D	0.91055	0.4881	10	0.72032	D	0.01	.	19.253	0.93933	0.0:1.0:0.0:0.0	.	1228	P13535	MYH8_HUMAN	N	1228	ENSP00000384330:K1228N	ENSP00000252173:K1228N	K	-	3	2	MYH8	10244483	0.999000	0.42202	1.000000	0.80357	0.886000	0.51366	1.064000	0.30579	2.785000	0.95823	0.655000	0.94253	AAG		0.488	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		28	137	1	0	2.13e-12	2.86e-12	28	137				
HEXIM2	124790	broad.mit.edu	37	17	43246702	43246702	+	Silent	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:43246702A>G	ENST00000307275.3	+	4	823	c.387A>G	c.(385-387)gaA>gaG	p.E129E	HEXIM2_ENST00000592695.1_Silent_p.E129E|RP13-890H12.2_ENST00000589451.1_RNA|HEXIM2_ENST00000591576.1_Silent_p.E129E|RP13-890H12.2_ENST00000589796.1_RNA	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	129					negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			endometrium(1)|large_intestine(3)|lung(1)	5						GGGTCCGCGAAGAGATGTTCG	0.627																																						uc002iih.1		NA																	0					0						c.(385-387)GAA>GAG		hexamthylene bis-acetamide inducible 2							36.0	39.0	38.0					17																	43246702		2203	4300	6503	SO:0001819	synonymous_variant	124790				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43246702A>G	AK056946	CCDS11496.1	17q21.31	2011-07-29	2011-07-29			ENSG00000168517			28591	protein-coding gene	gene with protein product		615695				12832472	Standard	NM_144608		Approved	FLJ32384	uc002iih.1	Q96MH2		ENST00000307275.3:c.387A>G	17.37:g.43246702A>G						HEXIM2_uc010daf.1_Silent_p.E151E|HEXIM2_uc002iii.1_Silent_p.E129E|HEXIM2_uc002iij.1_Silent_p.E129E|uc002iik.1_RNA	p.E129E	NM_144608	NP_653209	Q96MH2	HEXI2_HUMAN			4	626	+			129					D3DX66	Silent	SNP	ENST00000307275.3	37	c.387A>G	CCDS11496.1																																																																																				0.627	HEXIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450181.1	NM_144608		7	41	0	0	0	0	7	41				
GH2	2689	broad.mit.edu	37	17	61958488	61958488	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:61958488C>T	ENST00000423893.2	-	3	253	c.192G>A	c.(190-192)aaG>aaA	p.K64K	GH2_ENST00000456543.2_Silent_p.K64K|GH2_ENST00000332800.7_Silent_p.K64K|GH2_ENST00000449787.2_Intron			P01242	SOM2_HUMAN	growth hormone 2	64					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						ACTTCTGCTCCTTCAGGATAT	0.507																																						uc002jco.1		NA																	0				upper_aerodigestive_tract(2)|pancreas(1)	3						c.(190-192)AAG>AAA		growth hormone 2 isoform 1							186.0	197.0	193.0					17																	61958488		2203	4300	6503	SO:0001819	synonymous_variant	2689					extracellular region	hormone activity	g.chr17:61958488C>T	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.192G>A	17.37:g.61958488C>T						GH2_uc002jcj.2_Silent_p.K64K|CSH2_uc002jck.2_Intron|GH2_uc002jcl.1_Silent_p.K64K|GH2_uc002jcm.1_Silent_p.K64K|GH2_uc002jcn.1_Intron	p.K64K	NM_002059	NP_002050	P01242	SOM2_HUMAN			3	254	-			64					B1A4H5|B1A4H7|O14643|O14644|P09587	Silent	SNP	ENST00000423893.2	37	c.192G>A	CCDS11647.1																																																																																				0.507	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		106	79	0	0	0	0	106	79				
CSNK1D	1453	broad.mit.edu	37	17	80211118	80211118	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr17:80211118G>A	ENST00000314028.6	-	4	688	c.339C>T	c.(337-339)atC>atT	p.I113I	CSNK1D_ENST00000392334.2_Silent_p.I113I|CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Silent_p.I113I	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CGATGCGACTGATCTGTGAGC	0.552																																						uc002kej.2		NA																	0				breast(2)	2						c.(337-339)ATC>ATT		casein kinase 1, delta isoform 1							147.0	136.0	140.0					17																	80211118		2203	4300	6503	SO:0001819	synonymous_variant	1453				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:80211118G>A		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.339C>T	17.37:g.80211118G>A						SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Silent_p.I113I|CSNK1D_uc002kei.2_Silent_p.I113I|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_5'UTR|CSNK1D_uc010dim.1_5'Flank	p.I113I	NM_001893	NP_001884	P48730	KC1D_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)		4	655	-	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		113			Protein kinase.		A2I2P2|Q96KZ6|Q9BTN5	Silent	SNP	ENST00000314028.6	37	c.339C>T	CCDS11805.1																																																																																				0.552	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442632.1	NM_139062		55	40	0	0	0	0	55	40				
DSC1	1823	broad.mit.edu	37	18	28713884	28713884	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr18:28713884C>A	ENST00000257198.5	-	13	2347	c.2086G>T	c.(2086-2088)Gct>Tct	p.A696S	RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.A696S|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	696					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AACACCATAGCAAGAATAGCC	0.318																																						uc002kwn.2		NA																	0				ovary(3)|skin(1)	4						c.(2086-2088)GCT>TCT		desmocollin 1 isoform Dsc1a preproprotein							125.0	110.0	116.0					18																	28713884		2203	4300	6503	SO:0001583	missense	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28713884C>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2086G>T	18.37:g.28713884C>A	ENSP00000257198:p.Ala696Ser					DSC1_uc002kwm.2_Missense_Mutation_p.A696S	p.A696S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		13	2348	-			696			Helical; (Potential).		Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	37	c.2086G>T	CCDS11894.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.476156	0.44044	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.60920	0.15;0.19	5.92	3.9	0.45041	.	0.258710	0.26895	N	0.021957	T	0.57036	0.2026	M	0.67700	2.07	0.40204	D	0.977547	B;B	0.22746	0.012;0.074	B;B	0.17979	0.012;0.02	T	0.60772	-0.7197	10	0.51188	T	0.08	.	15.988	0.80176	0.3321:0.6679:0.0:0.0	.	696;696	Q08554;Q9HB00	DSC1_HUMAN;.	S	696	ENSP00000257197:A696S;ENSP00000257198:A696S	ENSP00000257197:A696S	A	-	1	0	DSC1	26967882	0.996000	0.38824	1.000000	0.80357	0.896000	0.52359	0.182000	0.16900	1.444000	0.47605	0.591000	0.81541	GCT		0.318	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		24	23	1	0	3.1e-05	3.89e-05	24	23				
SETBP1	26040	broad.mit.edu	37	18	42530735	42530735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr18:42530735C>A	ENST00000282030.5	+	4	1726	c.1430C>A	c.(1429-1431)tCa>tAa	p.S477*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	477						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAGTCCCCCTCAGTTGGCCTT	0.488									Schinzel-Giedion syndrome																													uc010dni.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(1429-1431)TCA>TAA		SET binding protein 1 isoform a							82.0	86.0	85.0					18																	42530735		2203	4300	6503	SO:0001587	stop_gained	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530735C>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1430C>A	18.37:g.42530735C>A	ENSP00000282030:p.Ser477*						p.S477*	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1726	+			477					A6H8W5|Q6P6C3|Q9UEF3	Nonsense_Mutation	SNP	ENST00000282030.5	37	c.1430C>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	36	5.768383	0.96914	.	.	ENSG00000152217	ENST00000282030	.	.	.	6.08	5.2	0.72013	.	0.396648	0.26696	N	0.022975	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8086	0.57628	0.0:0.8485:0.0:0.1515	.	.	.	.	X	477	.	ENSP00000282030:S477X	S	+	2	0	SETBP1	40784733	0.064000	0.20934	0.062000	0.19696	0.390000	0.30446	1.454000	0.35178	2.894000	0.99253	0.655000	0.94253	TCA		0.488	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		19	56	1	0	4.35e-09	5.68e-09	19	56				
DYM	54808	broad.mit.edu	37	18	46889584	46889584	+	Silent	SNP	A	A	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr18:46889584A>T	ENST00000269445.6	-	6	898	c.441T>A	c.(439-441)ctT>ctA	p.L147L	DYM_ENST00000578396.1_5'UTR|DYM_ENST00000442713.2_Intron	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	147					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATTCTTCCAAAAGATCTTCTG	0.348																																						uc002ldi.1		NA																	0					0						c.(439-441)CTT>CTA		dymeclin							103.0	99.0	101.0					18																	46889584		2203	4300	6503	SO:0001819	synonymous_variant	54808					Golgi apparatus		g.chr18:46889584A>T	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.441T>A	18.37:g.46889584A>T						DYM_uc010xdf.1_Intron	p.L147L	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN			6	806	-			147					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	ENST00000269445.6	37	c.441T>A	CCDS11937.1																																																																																				0.348	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		6	27	0	0	0	0	6	27				
PNPLA6	10908	broad.mit.edu	37	19	7619913	7619913	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:7619913C>T	ENST00000221249.6	+	25	3086	c.2655C>T	c.(2653-2655)caC>caT	p.H885H	PNPLA6_ENST00000450331.3_Silent_p.H885H|PNPLA6_ENST00000414982.3_Silent_p.H933H|PNPLA6_ENST00000600737.1_Silent_p.H923H|PNPLA6_ENST00000545201.2_Silent_p.H858H	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	924					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGCACCTGCACCTGCGCTGTC	0.711																																						uc010xjq.1		NA																	0				ovary(3)	3						c.(2797-2799)CAC>CAT		neuropathy target esterase isoform b							11.0	12.0	11.0					19																	7619913		2197	4287	6484	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7619913C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2655C>T	19.37:g.7619913C>T						PNPLA6_uc002mgq.1_Silent_p.H885H|PNPLA6_uc010xjp.1_Silent_p.H858H|PNPLA6_uc002mgr.1_Silent_p.H885H|PNPLA6_uc002mgs.2_Silent_p.H923H|PNPLA6_uc002mgt.1_RNA	p.H933H	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			24	2994	+			924			Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.2799C>T	CCDS32891.1																																																																																				0.711	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		16	10	0	0	0	0	16	10				
PRDX2	7001	broad.mit.edu	37	19	12912075	12912075	+	Start_Codon_SNP	SNP	T	T	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:12912075T>A	ENST00000301522.2	-	2	129	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	PRDX2_ENST00000435703.1_Start_Codon_SNP_p.M1L|CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000334482.5_Start_Codon_SNP_p.M1L	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	1					cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCGGAGGCCATGACTGAAAGC	0.617																																						uc002mvd.2		NA																	0					0						c.(1-3)ATG>TTG		peroxiredoxin 2 isoform a							26.0	26.0	26.0					19																	12912075		2203	4300	6503	SO:0001582	initiator_codon_variant	7001				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity	g.chr19:12912075T>A		CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.1A>T	19.37:g.12912075T>A	ENSP00000301522:p.Met1Leu					PRDX2_uc002mve.1_Missense_Mutation_p.M1L	p.M1L	NM_005809	NP_005800	P32119	PRDX2_HUMAN			2	151	-			1					A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	ENST00000301522.2	37	c.1A>T	CCDS12281.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.031414	0.54790	.	.	ENSG00000167815	ENST00000334482;ENST00000301522;ENST00000435703	T;T;T	0.42513	1.69;2.71;0.97	5.18	5.18	0.71444	.	0.239777	0.35555	N	0.003136	T	0.33702	0.0872	.	.	.	0.80722	D	1	B;B	0.17038	0.02;0.004	B;B	0.17979	0.007;0.02	T	0.09862	-1.0655	9	0.33141	T	0.24	1.6388	12.5387	0.56156	0.0:0.0:0.0:1.0	.	1;1	A8K0C0;P32119	.;PRDX2_HUMAN	L	1	ENSP00000334063:M1L;ENSP00000301522:M1L;ENSP00000408905:M1L	ENSP00000301522:M1L	M	-	1	0	PRDX2	12773075	1.000000	0.71417	0.904000	0.35570	0.361000	0.29550	6.758000	0.74929	1.961000	0.56991	0.374000	0.22700	ATG		0.617	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809	Missense_Mutation	5	5	0	0	0	0	5	5				
CPAMD8	27151	broad.mit.edu	37	19	17122306	17122306	+	Missense_Mutation	SNP	C	C	T	rs533642927		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:17122306C>T	ENST00000443236.1	-	5	626	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	CPAMD8_ENST00000388925.4_Missense_Mutation_p.V152I|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	152						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTTGGAGAGACGGTGAAGATG	0.587																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(595-597)GTC>ATC		C3 and PZP-like, alpha-2-macroglobulin domain							103.0	103.0	103.0					19																	17122306		1942	4144	6086	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17122306C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.595G>A	19.37:g.17122306C>T	ENSP00000402505:p.Val199Ile						p.V199I	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			5	627	-			152					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.595G>A	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	C	9.665	1.145137	0.21288	.	.	ENSG00000160111	ENST00000291440;ENST00000388925	T;T	0.73469	-0.75;-0.75	3.16	2.1	0.27182	Alpha-2-macroglobulin, N-terminal (1);	0.103590	0.38778	N	0.001578	T	0.78078	0.4227	L	0.58583	1.82	0.18873	N	0.999984	D	0.71674	0.998	P	0.62014	0.897	T	0.67007	-0.5779	10	0.28530	T	0.3	.	9.1286	0.36830	0.0:0.8881:0.0:0.1119	.	152	Q8IZJ3	CPMD8_HUMAN	I	199;152	ENSP00000291440:V199I;ENSP00000373577:V152I	ENSP00000291440:V199I	V	-	1	0	CPAMD8	16983306	0.998000	0.40836	0.748000	0.31131	0.243000	0.25628	1.603000	0.36794	0.336000	0.23639	-0.140000	0.14226	GTC		0.587	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		20	65	0	0	0	0	20	65				
ZNF181	339318	broad.mit.edu	37	19	35232698	35232698	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:35232698G>T	ENST00000492450.1	+	4	1501	c.1412G>T	c.(1411-1413)aGt>aTt	p.S471I	ZNF181_ENST00000392232.3_Missense_Mutation_p.S515I|ZNF181_ENST00000459757.2_Missense_Mutation_p.S470I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAAGCCTTTAGTCATAGGTCA	0.388																																						uc002nvu.3		NA																	0				ovary(1)	1						c.(1411-1413)AGT>ATT		zinc finger protein 181 isoform 1							55.0	55.0	55.0					19																	35232698		2202	4299	6501	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232698G>T	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1412G>T	19.37:g.35232698G>T	ENSP00000420727:p.Ser471Ile					ZNF181_uc010xsa.1_Missense_Mutation_p.S470I|ZNF181_uc010xsb.1_Missense_Mutation_p.S470I|ZNF181_uc010xsc.1_Missense_Mutation_p.S406I	p.S471I	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1875	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		471			C2H2-type 9.		B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.1412G>T	CCDS32990.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.54|12.54	1.968410|1.968410	0.34754|0.34754	.|.	.|.	ENSG00000197841|ENSG00000197841	ENST00000392232;ENST00000492450;ENST00000459757|ENST00000425140	T;T;T|.	0.19938|.	3.15;2.11;2.11|.	3.12|3.12	3.12|3.12	0.35913|0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|.	0.33381|.	0.0861|.	L|L	0.31664|0.31664	0.95|0.95	0.23271|0.23271	N|N	0.998004|0.998004	P;P|.	0.48911|.	0.917;0.917|.	B;B|.	0.43809|.	0.432;0.432|.	T|.	0.14727|.	-1.0462|.	9|.	0.29301|.	T|.	0.29|.	.|.	8.443|8.443	0.32826|0.32826	0.0:0.2412:0.7588:0.0|0.0:0.2412:0.7588:0.0	.|.	470;471|.	B7ZKX3;Q2M3W8|.	.;ZN181_HUMAN|.	I|Y	515;471;470|468	ENSP00000376065:S515I;ENSP00000420727:S471I;ENSP00000419435:S470I|.	ENSP00000376065:S515I|.	S|X	+|+	2|3	0|2	ZNF181|ZNF181	39924538|39924538	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	-1.529000|-1.529000	0.02223|0.02223	2.041000|2.041000	0.60428|0.60428	0.655000|0.655000	0.94253|0.94253	AGT|TAG		0.388	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		23	56	1	0	6.33e-13	8.55e-13	23	56				
PSG8	440533	broad.mit.edu	37	19	43259226	43259226	+	Missense_Mutation	SNP	G	G	C	rs558641447		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:43259226G>C	ENST00000306511.4	-	4	999	c.902C>G	c.(901-903)aCg>aGg	p.T301R	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.T208R|PSG8_ENST00000406636.3_Missense_Mutation_p.T179R|PSG8_ENST00000404209.4_Missense_Mutation_p.T301R	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	301	Ig-like C2-type 2.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.478																																						uc002ouo.2		NA																	0					0						c.(901-903)ACG>AGG		pregnancy specific beta-1-glycoprotein 8 isoform							129.0	130.0	129.0					19																	43259226		2203	4297	6500	SO:0001583	missense	440533					extracellular region		g.chr19:43259226G>C	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.902C>G	19.37:g.43259226G>C	ENSP00000305005:p.Thr301Arg					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Missense_Mutation_p.T140R|PSG8_uc002ouh.2_Missense_Mutation_p.T301R|PSG8_uc010ein.2_Missense_Mutation_p.T179R|PSG8_uc002ouj.3_Missense_Mutation_p.T83R|PSG8_uc002ouk.3_Missense_Mutation_p.T140R|PSG8_uc002oul.3_Missense_Mutation_p.T301R|PSG8_uc002oum.3_Missense_Mutation_p.T208R|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.T208R	p.T301R	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			4	1000	-		Prostate(69;0.00899)	301			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.902C>G	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	11.51	1.660103	0.29515	.	.	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	1.38	1.38	0.22167	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33118	0.0852	M	0.63428	1.95	0.09310	N	1	D;P;P;D;D;D	0.56968	0.978;0.853;0.795;0.96;0.967;0.974	D;P;P;D;D;D	0.72625	0.952;0.775;0.665;0.978;0.914;0.948	T	0.05886	-1.0858	9	0.87932	D	0	.	6.1171	0.20132	0.0:0.0:1.0:0.0	.	179;208;301;208;301;301	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	R	301;179;208;113;208;301	ENSP00000385869:T301R;ENSP00000385081:T179R;ENSP00000386090:T208R;ENSP00000305005:T301R	ENSP00000305005:T301R	T	-	2	0	PSG8	47951066	0.286000	0.24305	0.050000	0.19076	0.007000	0.05969	0.527000	0.22987	0.731000	0.32448	0.298000	0.19748	ACG		0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			92	77	0	0	0	0	92	77				
CALM3	808	broad.mit.edu	37	19	47111573	47111573	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:47111573A>G	ENST00000291295.9	+	3	353	c.154A>G	c.(154-156)Atg>Gtg	p.M52V	CALM3_ENST00000598871.1_Missense_Mutation_p.M16V|CALM3_ENST00000597743.1_Missense_Mutation_p.M52V|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000599839.1_Missense_Mutation_p.M16V|CTB-12A17.3_ENST00000597609.1_RNA|CALM3_ENST00000391918.2_Missense_Mutation_p.M16V|CALM3_ENST00000594523.1_Missense_Mutation_p.M16V|CALM3_ENST00000596362.1_Missense_Mutation_p.M52V	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	52	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|detection of calcium ion (GO:0005513)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide metabolic process (GO:0046209)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cyclic nucleotide metabolic process (GO:0030801)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cytokinesis (GO:0032465)|regulation of heart rate (GO:0002027)|regulation of high voltage-gated calcium channel activity (GO:1901841)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcomere (GO:0030017)|spindle microtubule (GO:0005876)|spindle pole (GO:0000922)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|N-terminal myristoylation domain binding (GO:0031997)|nitric-oxide synthase regulator activity (GO:0030235)|phospholipase binding (GO:0043274)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|protein phosphatase activator activity (GO:0072542)|protein serine/threonine kinase activator activity (GO:0043539)|thioesterase binding (GO:0031996)|titin binding (GO:0031432)			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Chlorpromazine(DB00477)|Cinchocaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Melatonin(DB01065)|Nicardipine(DB00622)|Nifedipine(DB01115)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)|Trifluoperazine(DB00831)	GCTGCAGGATATGATCAATGA	0.582																																						uc002pew.2		NA																	0				ovary(1)	1						c.(154-156)ATG>GTG		calmodulin 3	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)						96.0	85.0	89.0					19																	47111573		2203	4300	6503	SO:0001583	missense	808				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	g.chr19:47111573A>G		CCDS33061.1	19q13.2-q13.3	2013-02-25			ENSG00000160014	ENSG00000160014		"""EF-hand domain containing"", ""Endogenous ligands"""	1449	protein-coding gene	gene with protein product	"""prepro-calmodulin 3"""	114183					Standard	NM_005184		Approved	PHKD	uc002pew.3	P62158	OTTHUMG00000133517	ENST00000291295.9:c.154A>G	19.37:g.47111573A>G	ENSP00000291295:p.Met52Val					CALM3_uc010ekp.2_Missense_Mutation_p.M16V|CALM3_uc010xyc.1_Missense_Mutation_p.M52V	p.M52V	NM_005184	NP_005175	P62158	CALM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	3	334	+		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	52			EF-hand 2.		P02593|P70667|P99014|Q13942|Q53S29|Q61379|Q61380|Q96HK3	Missense_Mutation	SNP	ENST00000291295.9	37	c.154A>G	CCDS33061.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.633985	0.47049	.	.	ENSG00000160014	ENST00000291295;ENST00000391918	T	0.70045	-0.45	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000002	T	0.74673	0.3747	M	0.64630	1.985	0.80722	D	1	.	.	.	.	.	.	T	0.77705	-0.2488	8	0.87932	D	0	-35.0483	13.0281	0.58827	1.0:0.0:0.0:0.0	.	.	.	.	V	52	ENSP00000291295:M52V	ENSP00000291295:M52V	M	+	1	0	CALM3	51803413	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.172000	0.68678	0.533000	0.62120	ATG		0.582	CALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257483.2			28	20	0	0	0	0	28	20				
ZNF8	7554	broad.mit.edu	37	19	58806142	58806142	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:58806142G>T	ENST00000196548.5	+	4	1099	c.968G>T	c.(967-969)tGc>tTc	p.C323F	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.C323F			P17098	ZNF8_HUMAN	zinc finger protein 8	323					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		AAGTCTTTCTGCCATAGTACA	0.557																																						uc002qry.1		NA																	0				ovary(1)	1						c.(967-969)TGC>TTC		zinc finger protein 8							99.0	103.0	101.0					19																	58806142		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58806142G>T	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.968G>T	19.37:g.58806142G>T	ENSP00000196548:p.Cys323Phe					ZNF8_uc002qrz.2_RNA	p.C323F	NM_021089	NP_066575	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	4	1098	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	323			C2H2-type 3.		Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.968G>T	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092324	0.55968	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.35236	1.32	4.82	4.82	0.62117	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000057	T	0.34832	0.0911	N	0.05510	-0.035	0.34316	D	0.686014	D	0.61697	0.99	P	0.59546	0.859	T	0.51702	-0.8672	10	0.62326	D	0.03	-9.1722	13.5616	0.61793	0.0:0.1575:0.8425:0.0	.	323	P17098	ZNF8_HUMAN	F	323;38	ENSP00000196548:C323F	ENSP00000196548:C323F	C	+	2	0	ZNF8	63497954	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-1.622000	0.02042	2.671000	0.90904	0.644000	0.83932	TGC		0.557	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		25	23	1	0	2.4e-15	3.26e-15	25	23				
APOB	338	broad.mit.edu	37	2	21224635	21224635	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:21224635C>G	ENST00000233242.1	-	29	13786	c.13659G>C	c.(13657-13659)aaG>aaC	p.K4553N	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4553					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGAGCAAGCTTCATGTAGG	0.348																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(13657-13659)AAG>AAC		apolipoprotein B precursor	Atorvastatin(DB01076)						109.0	108.0	108.0					2																	21224635		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21224635C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13659G>C	2.37:g.21224635C>G	ENSP00000233242:p.Lys4553Asn						p.K4553N	NM_000384	NP_000375	P04114	APOB_HUMAN			29	13787	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4553					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.13659G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	9.953	1.220727	0.22457	.	.	ENSG00000084674	ENST00000233242	T	0.00737	5.76	5.76	1.91	0.25777	.	0.727573	0.12852	N	0.433885	T	0.00784	0.0026	L	0.42245	1.32	0.09310	N	0.999997	P	0.38922	0.651	B	0.36030	0.216	T	0.49986	-0.8880	10	0.54805	T	0.06	.	2.0921	0.03659	0.1289:0.4351:0.2256:0.2103	.	4553	P04114	APOB_HUMAN	N	4553	ENSP00000233242:K4553N	ENSP00000233242:K4553N	K	-	3	2	APOB	21078140	0.000000	0.05858	0.019000	0.16419	0.451000	0.32288	-0.079000	0.11357	0.338000	0.23692	0.563000	0.77884	AAG		0.348	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			14	76	0	0	0	0	14	76				
NMS	129521	broad.mit.edu	37	2	101097599	101097599	+	Silent	SNP	G	G	A	rs532961780		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:101097599G>A	ENST00000376865.1	+	8	391	c.384G>A	c.(382-384)gcG>gcA	p.A128A		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	128					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						ATCACACTGCGACCTGGGGAC	0.418																																						uc002tan.1		NA																	0				ovary(1)	1						c.(382-384)GCG>GCA		neuromedin S precursor							277.0	264.0	268.0					2																	101097599		2203	4300	6503	SO:0001819	synonymous_variant	129521				neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		g.chr2:101097599G>A	AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.384G>A	2.37:g.101097599G>A							p.A128A	NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN			8	391	+			128						Silent	SNP	ENST00000376865.1	37	c.384G>A	CCDS33259.1																																																																																				0.418	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329737.1	NM_001011717		18	94	0	0	0	0	18	94				
GCC2	9648	broad.mit.edu	37	2	109086566	109086566	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:109086566G>C	ENST00000309863.6	+	6	1495	c.781G>C	c.(781-783)Gca>Cca	p.A261P	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	261					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)			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						CCAGATTGAAGCATCAGCTAA	0.358																																						uc002tec.2		NA																	0				ovary(1)	1						c.(781-783)GCA>CCA		GRIP and coiled-coil domain-containing 2							133.0	145.0	141.0					2																	109086566		2203	4299	6502	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.chr2:109086566G>C	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.781G>C	2.37:g.109086566G>C	ENSP00000307939:p.Ala261Pro					GCC2_uc002ted.2_Missense_Mutation_p.A160P	p.A261P	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	935	+			261			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.781G>C	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	8.517	0.867863	0.17250	.	.	ENSG00000135968	ENST00000435553;ENST00000309863;ENST00000409896;ENST00000393318	T	0.32515	1.45	4.9	-0.72	0.11195	.	1.355660	0.04670	N	0.410505	T	0.14917	0.0360	N	0.19112	0.55	0.09310	N	1	P	0.38642	0.641	B	0.28011	0.085	T	0.13442	-1.0509	10	0.25751	T	0.34	.	4.3469	0.11138	0.4783:0.0:0.2656:0.2561	.	261	Q8IWJ2	GCC2_HUMAN	P	261;261;224;6	ENSP00000307939:A261P	ENSP00000307939:A261P	A	+	1	0	GCC2	108452998	0.000000	0.05858	0.004000	0.12327	0.787000	0.44495	-1.335000	0.02662	-0.404000	0.07610	0.467000	0.42956	GCA		0.358	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		26	91	0	0	0	0	26	91				
GTDC1	79712	broad.mit.edu	37	2	144764954	144764954	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:144764954T>A	ENST00000392869.2	-	6	822	c.670A>T	c.(670-672)Aca>Tca	p.T224S	GTDC1_ENST00000392867.3_Missense_Mutation_p.T224S|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000241391.5_Missense_Mutation_p.T224S|GTDC1_ENST00000344850.4_Missense_Mutation_p.T224S|GTDC1_ENST00000463875.2_Missense_Mutation_p.T95S|GTDC1_ENST00000542155.1_Missense_Mutation_p.T224S|GTDC1_ENST00000409214.1_Missense_Mutation_p.T224S	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	224					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CCACAGTGTGTATCACACTCT	0.418																																						uc002tvp.2		NA																	0				ovary(1)	1						c.(670-672)ACA>TCA		glycosyltransferase-like domain containing 1							105.0	102.0	103.0					2																	144764954		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144764954T>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.670A>T	2.37:g.144764954T>A	ENSP00000376608:p.Thr224Ser					GTDC1_uc002tvo.2_Missense_Mutation_p.T224S|GTDC1_uc002tvq.2_Intron|GTDC1_uc002tvr.2_Missense_Mutation_p.T224S|GTDC1_uc010fnn.2_Missense_Mutation_p.T224S|GTDC1_uc002tvs.2_Missense_Mutation_p.T192S|GTDC1_uc010fno.2_Missense_Mutation_p.T95S|GTDC1_uc002tvt.1_Missense_Mutation_p.T224S	p.T224S	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	7	949	-			224					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.670A>T	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	T	0.643	-0.812669	0.02798	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000392867;ENST00000542155;ENST00000241391;ENST00000344850;ENST00000463875	T;T;T;T;T;T;T	0.42513	0.98;0.98;0.98;0.98;0.98;0.98;0.97	3.93	-1.35	0.09114	.	0.779066	0.11601	N	0.547727	T	0.24812	0.0602	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.23249	0.034;0.038;0.005;0.082	B;B;B;B	0.25140	0.017;0.014;0.003;0.058	T	0.32745	-0.9895	10	0.09338	T	0.73	-12.4328	6.3288	0.21259	0.0:0.3888:0.1288:0.4825	.	224;224;224;224	G1UFN1;Q4AE62-2;Q4AE62;Q4AE62-3	.;.;GTDC1_HUMAN;.	S	224;224;224;224;224;224;95	ENSP00000376608:T224S;ENSP00000386581:T224S;ENSP00000376606:T224S;ENSP00000438323:T224S;ENSP00000241391:T224S;ENSP00000339750:T224S;ENSP00000437964:T95S	ENSP00000241391:T224S	T	-	1	0	GTDC1	144481424	0.212000	0.23540	0.000000	0.03702	0.022000	0.10575	0.184000	0.16939	-0.310000	0.08766	-0.766000	0.03442	ACA		0.418	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		34	33	0	0	0	0	34	33				
RIF1	55183	broad.mit.edu	37	2	152285383	152285383	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:152285383A>C	ENST00000243326.5	+	8	1355	c.872A>C	c.(871-873)aAg>aCg	p.K291T	RIF1_ENST00000444746.2_Missense_Mutation_p.K291T|RIF1_ENST00000433166.2_Missense_Mutation_p.K260T|RIF1_ENST00000428287.2_Missense_Mutation_p.K291T|RIF1_ENST00000430328.2_Missense_Mutation_p.K291T|RIF1_ENST00000453091.2_Missense_Mutation_p.K291T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATGATTAAAAAGATAGCTTTT	0.323																																						uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(871-873)AAG>ACG		RAP1 interacting factor 1							74.0	77.0	76.0					2																	152285383		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152285383A>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.872A>C	2.37:g.152285383A>C	ENSP00000243326:p.Lys291Thr					RIF1_uc002txl.2_Missense_Mutation_p.K291T|RIF1_uc010fnv.1_Missense_Mutation_p.K255T|RIF1_uc002txn.2_Missense_Mutation_p.K291T|RIF1_uc002txo.2_Missense_Mutation_p.K291T|RIF1_uc010zby.1_RNA	p.K291T	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	9	1002	+			291					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.872A>C	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.230823|4.230823	0.79688|0.79688	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000414861|ENST00000444746;ENST00000453091;ENST00000428287;ENST00000433166;ENST00000243326;ENST00000430328	T|T;T;T;T;T;T	0.67523|0.65364	-0.27|-0.15;-0.15;-0.15;0.68;-0.15;-0.15	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Armadillo-type fold (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.68320|0.68320	0.2988|0.2988	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.996;0.998	T|T	0.66288|0.66288	-0.5961|-0.5961	8|10	0.48119|0.29301	T|T	0.1|0.29	-25.401|-25.401	15.8775|15.8775	0.79178|0.79178	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|291;291	.|Q5UIP0;Q5UIP0-2	.|RIF1_HUMAN;.	N|T	282|291;291;291;260;291;291	ENSP00000390486:K282N|ENSP00000390181:K291T;ENSP00000414615:K291T;ENSP00000415691:K291T;ENSP00000396865:K260T;ENSP00000243326:K291T;ENSP00000416123:K291T	ENSP00000390486:K282N|ENSP00000243326:K291T	K|K	+|+	3|2	2|0	RIF1|RIF1	151993629|151993629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.935000|8.935000	0.92923|0.92923	2.228000|2.228000	0.72767|0.72767	0.482000|0.482000	0.46254|0.46254	AAA|AAG		0.323	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			8	24	0	0	0	0	8	24				
TANC1	85461	broad.mit.edu	37	2	160006935	160006935	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:160006935G>T	ENST00000263635.6	+	7	787	c.550G>T	c.(550-552)Gca>Tca	p.A184S	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	184	Ser-rich.				dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAGCAGCACCGCATCTCCTAG	0.527																																						uc002uag.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(550-552)GCA>TCA		tetratricopeptide repeat, ankyrin repeat and							71.0	72.0	72.0					2																	160006935		2134	4252	6386	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160006935G>T	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.550G>T	2.37:g.160006935G>T	ENSP00000263635:p.Ala184Ser					TANC1_uc010fol.1_Intron|TANC1_uc010zcm.1_Missense_Mutation_p.A183S|TANC1_uc010fom.1_Intron|TANC1_uc002uah.1_3'UTR	p.A184S	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			7	824	+			184			Ser-rich.		C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.550G>T	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258445	0.80246	.	.	ENSG00000115183	ENST00000263635	T	0.68624	-0.34	5.46	4.37	0.52481	.	0.240766	0.36665	N	0.002479	T	0.64494	0.2603	L	0.59436	1.845	0.80722	D	1	P;P	0.40050	0.529;0.7	B;P	0.44921	0.23;0.464	T	0.67260	-0.5715	10	0.66056	D	0.02	.	7.2544	0.26168	0.1895:0.0:0.8105:0.0	.	183;184	B9EK39;Q9C0D5	.;TANC1_HUMAN	S	184	ENSP00000263635:A184S	ENSP00000263635:A184S	A	+	1	0	TANC1	159715181	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.593000	0.54001	2.733000	0.93635	0.655000	0.94253	GCA		0.527	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			16	13	1	0	1.68e-08	2.17e-08	16	13				
SCN1A	6323	broad.mit.edu	37	2	166894613	166894613	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:166894613C>A	ENST00000303395.4	-	15	2618	c.2619G>T	c.(2617-2619)tgG>tgT	p.W873C	SCN1A_ENST00000409050.1_Missense_Mutation_p.W845C|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.W873C|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.W862C			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	873					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTAACGTTGGCCAAGATTTTG	0.373																																						uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(2584-2586)TGG>TGT		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						41.0	43.0	42.0					2																	166894613		2201	4300	6501	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166894613C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2619G>T	2.37:g.166894613C>A	ENSP00000303540:p.Trp873Cys					SCN1A_uc002udo.3_Missense_Mutation_p.W742C|SCN1A_uc010fpk.2_Missense_Mutation_p.W714C	p.W862C	NM_006920	NP_008851	P35498	SCN1A_HUMAN			15	2604	-			873			Helical; Voltage-sensor; Name=S4 of repeat II; (By similarity).|II.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.2586G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130443	0.77549	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	4.93	4.93	0.64822	Ion transport (1);	0.000000	0.64402	D	0.000010	D	0.99444	0.9803	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	D	0.98104	1.0416	10	0.87932	D	0	.	18.5005	0.90879	0.0:1.0:0.0:0.0	.	862;845;873	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	C	873;873;862;845	ENSP00000407030:W873C;ENSP00000303540:W873C;ENSP00000364554:W862C;ENSP00000386312:W845C	ENSP00000303540:W873C	W	-	3	0	SCN1A	166602859	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.726000	0.84824	2.437000	0.82529	0.591000	0.81541	TGG		0.373	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		11	75	1	0	2.81e-09	3.68e-09	11	75				
TTN	7273	broad.mit.edu	37	2	179552943	179552943	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:179552943C>G	ENST00000591111.1	-	125	31479	c.31255G>C	c.(31255-31257)Gag>Cag	p.E10419Q	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E10736Q|TTN_ENST00000342992.6_Missense_Mutation_p.E9492Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTCCTCCTCTGCAGATACT	0.398																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(28474-28476)GAG>CAG		titin isoform N2-A							136.0	132.0	134.0					2																	179552943		1862	4094	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179552943C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31255G>C	2.37:g.179552943C>G	ENSP00000465570:p.Glu10419Gln					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6153Q|TTN_uc010fre.1_Intron	p.E9492Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		124	28698	-			10419					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.28474G>C		.	.	.	.	.	.	.	.	.	.	C	13.11	2.139516	0.37728	.	.	ENSG00000155657	ENST00000342992	T	0.72615	-0.67	4.94	4.94	0.65067	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.79364	0.4433	L	0.55213	1.73	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.81267	-0.1010	9	0.87932	D	0	.	14.0185	0.64539	0.0:1.0:0.0:0.0	.	10419	Q8WZ42	TITIN_HUMAN	Q	9492	ENSP00000343764:E9492Q	ENSP00000343764:E9492Q	E	-	1	0	TTN	179261188	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	1.708000	0.37899	2.460000	0.83146	0.467000	0.42956	GAG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	190	0	0	0	0	19	190				
STAT1	6772	broad.mit.edu	37	2	191862724	191862724	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:191862724G>A	ENST00000361099.3	-	9	1030	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	STAT1_ENST00000540176.1_Missense_Mutation_p.S184L|STAT1_ENST00000392322.3_Missense_Mutation_p.H215Y|STAT1_ENST00000392323.2_Missense_Mutation_p.H217Y|STAT1_ENST00000409465.1_Missense_Mutation_p.H215Y	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	215					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			ATTATTTTGTGAACTACTTCC	0.328																																						uc002usj.2		NA																	0				lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(643-645)CAC>TAC		signal transducer and activator of transcription	Fludarabine(DB01073)						69.0	66.0	67.0					2																	191862724		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191862724G>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.643C>T	2.37:g.191862724G>A	ENSP00000354394:p.His215Tyr					STAT1_uc010fse.1_Missense_Mutation_p.H215Y|STAT1_uc002usk.2_Missense_Mutation_p.H215Y|STAT1_uc002usl.2_Missense_Mutation_p.H217Y|STAT1_uc010fsf.1_Missense_Mutation_p.H27Y	p.H215Y	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		9	1031	-			215					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.643C>T	CCDS2309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.342|9.342	1.063251|1.063251	0.20067|0.20067	.|.	.|.	ENSG00000115415|ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783|ENST00000540176	T;T;T;T|T	0.59083|0.60797	0.29;0.29;0.29;0.29|0.16	5.28|5.28	4.39|4.39	0.52855|0.52855	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);|.	0.926359|.	0.09487|.	N|.	0.795551|.	T|T	0.51975|0.51975	0.1706|0.1706	L|L	0.40543|0.40543	1.245|1.245	0.24055|0.24055	N|N	0.996035|0.996035	B;B|.	0.25563|.	0.129;0.071|.	B;B|.	0.30646|.	0.118;0.047|.	T|T	0.40608|0.40608	-0.9554|-0.9554	10|7	0.56958|0.23302	D|T	0.05|0.38	-11.6777|-11.6777	10.9367|10.9367	0.47249|0.47249	0.0:0.124:0.6196:0.2564|0.0:0.124:0.6196:0.2564	.|.	215;215|.	P42224-2;P42224|.	.;STAT1_HUMAN|.	Y|L	215;215;215;217;123|184	ENSP00000354394:H215Y;ENSP00000386244:H215Y;ENSP00000376136:H215Y;ENSP00000376137:H217Y|ENSP00000438703:S184L	ENSP00000354394:H215Y|ENSP00000394512:S184L	H|S	-|-	1|2	0|0	STAT1|STAT1	191570969|191570969	0.401000|0.401000	0.25303|0.25303	0.991000|0.991000	0.47740|0.47740	0.351000|0.351000	0.29236|0.29236	0.741000|0.741000	0.26202|0.26202	1.433000|1.433000	0.47394|0.47394	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.328	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		7	72	0	0	0	0	7	72				
NABP1	64859	broad.mit.edu	37	2	192548983	192548983	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:192548983A>G	ENST00000425611.2	+	5	489	c.406A>G	c.(406-408)Atg>Gtg	p.M136V	NABP1_ENST00000410026.2_Missense_Mutation_p.M56V|NABP1_ENST00000409510.1_Missense_Mutation_p.M56V	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	136					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)										GAATAATTCCATGAATAGTAA	0.299																																						uc002usx.2		NA																	0					0						c.(406-408)ATG>GTG		oligonucleotide/oligosaccharide-binding fold							155.0	166.0	162.0					2																	192548983		2203	4300	6503	SO:0001583	missense	64859				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding	g.chr2:192548983A>G	BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"""single-stranded DNA-binding protein 2"", ""sensor of single-strand DNA complex subunit B2"""	612103	"""oligonucleotide/oligosaccharide-binding fold containing 2A"""	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.406A>G	2.37:g.192548983A>G	ENSP00000403683:p.Met136Val					OBFC2A_uc002usw.2_Missense_Mutation_p.M56V|OBFC2A_uc002usy.2_RNA|OBFC2A_uc002usz.2_RNA|OBFC2A_uc002uta.2_Missense_Mutation_p.M56V	p.M136V	NM_001031716	NP_001026886	Q96AH0	SOSB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)		5	886	+			136					Q658Y8|Q9H5X6	Missense_Mutation	SNP	ENST00000425611.2	37	c.406A>G	CCDS33352.1	.	.	.	.	.	.	.	.	.	.	A	0.234	-1.018514	0.02078	.	.	ENSG00000173559	ENST00000410026;ENST00000409510;ENST00000425611	T;T;T	0.28454	1.61;1.61;1.61	4.49	1.83	0.25207	.	0.534690	0.20870	N	0.084183	T	0.07999	0.0200	N	0.02011	-0.69	0.09310	N	1	B;B	0.12630	0.006;0.0	B;B	0.13407	0.009;0.0	T	0.23013	-1.0200	10	0.12766	T	0.61	.	0.7815	0.01041	0.382:0.1762:0.1018:0.34	.	56;136	Q96AH0-2;Q96AH0	.;SOSB2_HUMAN	V	56;56;136	ENSP00000387243:M56V;ENSP00000386605:M56V;ENSP00000403683:M136V	ENSP00000386605:M56V	M	+	1	0	OBFC2A	192257228	0.022000	0.18835	0.945000	0.38365	0.312000	0.27988	0.004000	0.13106	0.821000	0.34540	0.533000	0.62120	ATG		0.299	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1	NM_022837		25	83	0	0	0	0	25	83				
SPATS2L	26010	broad.mit.edu	37	2	201303979	201303979	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:201303979A>T	ENST00000358677.5	+	7	827	c.580A>T	c.(580-582)Aca>Tca	p.T194S	SPATS2L_ENST00000409151.1_Missense_Mutation_p.T202S|SPATS2L_ENST00000409718.1_Missense_Mutation_p.T194S|SPATS2L_ENST00000409755.3_Missense_Mutation_p.T224S|SPATS2L_ENST00000451764.2_Missense_Mutation_p.T194S|SPATS2L_ENST00000409140.3_Missense_Mutation_p.T194S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.T134S|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409988.3_Missense_Mutation_p.T194S	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	194						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TAAGGCAAAAACATCTCCTGT	0.443																																						uc002uvn.3		NA																	0				ovary(2)|pancreas(1)	3						c.(580-582)ACA>TCA		SPATS2-like protein isoform a							110.0	104.0	106.0					2																	201303979		1902	4116	6018	SO:0001583	missense	26010					cytoplasm|nucleolus		g.chr2:201303979A>T	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.580A>T	2.37:g.201303979A>T	ENSP00000351503:p.Thr194Ser					SPATS2L_uc010fst.2_Missense_Mutation_p.T194S|SPATS2L_uc002uvo.3_Missense_Mutation_p.T134S|SPATS2L_uc002uvp.3_Missense_Mutation_p.T194S|SPATS2L_uc002uvq.3_Intron|SPATS2L_uc002uvr.3_Missense_Mutation_p.T194S|SPATS2L_uc010zhc.1_Missense_Mutation_p.T224S	p.T194S	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			7	932	+			194					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	c.580A>T	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	A	5.990	0.366547	0.11352	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.32	2.82	0.32997	.	0.330041	0.26183	N	0.025851	T	0.12092	0.0294	N	0.02011	-0.69	0.29955	N	0.81995	B;B	0.17465	0.022;0.018	B;B	0.23852	0.049;0.023	T	0.26538	-1.0100	9	0.09843	T	0.71	-12.2284	7.1076	0.25372	0.5913:0.2717:0.0:0.137	.	224;194	B4DT67;Q9NUQ6	.;SPS2L_HUMAN	S	194;194;194;134;194;194;224;202	.	ENSP00000351503:T194S	T	+	1	0	SPATS2L	201012224	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.031000	0.30165	1.038000	0.40049	0.519000	0.50382	ACA		0.443	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		25	21	0	0	0	0	25	21				
VWC2L	402117	broad.mit.edu	37	2	215440475	215440475	+	Silent	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:215440475T>C	ENST00000312504.5	+	4	1402	c.600T>C	c.(598-600)tgT>tgC	p.C200C	VWC2L_ENST00000427124.1_3'UTR|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	200					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TCTGTCATTGTCACAACGGGG	0.468																																						uc002vet.2		NA																	0					0						c.(598-600)TGT>TGC		von Willebrand factor C domain-containing							232.0	226.0	228.0					2																	215440475		2018	4204	6222	SO:0001819	synonymous_variant	402117					extracellular region		g.chr2:215440475T>C	AB374231	CCDS46509.1	2q34-q35	2011-01-25	2011-01-25		ENSG00000174453	ENSG00000174453			37203	protein-coding gene	gene with protein product			"""von Willebrand factor C domain-containing protein 2-like"""				Standard	NM_001080500		Approved		uc002vet.2	B2RUY7	OTTHUMG00000154811	ENST00000312504.5:c.600T>C	2.37:g.215440475T>C						VWC2L_uc010zjl.1_3'UTR	p.C200C	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN			4	730	+			200					A6NC69|B2RUW7|B7X8X1	Silent	SNP	ENST00000312504.5	37	c.600T>C	CCDS46509.1																																																																																				0.468	VWC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337175.1	NM_001080500		3	163	0	0	0	0	3	163				
ANKMY1	51281	broad.mit.edu	37	2	241492385	241492385	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:241492385G>A	ENST00000272972.3	-	3	373	c.159C>T	c.(157-159)taC>taT	p.Y53Y	ANKMY1_ENST00000391987.1_Silent_p.Y53Y|ANKMY1_ENST00000401804.1_Silent_p.Y142Y|ANKMY1_ENST00000403283.1_Silent_p.Y221Y|ANKMY1_ENST00000373320.4_Silent_p.Y53Y|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405523.3_Silent_p.Y142Y|ANKMY1_ENST00000361678.4_Silent_p.Y142Y|ANKMY1_ENST00000536462.1_Silent_p.Y95Y|ANKMY1_ENST00000405002.1_Silent_p.Y53Y|ANKMY1_ENST00000406958.1_Silent_p.Y142Y|ANKMY1_ENST00000373318.2_Silent_p.Y142Y	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	53							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGTGGCTGAGGTAAAATGTGC	0.567																																						uc002vyz.1		NA																	0				central_nervous_system(1)	1						c.(157-159)TAC>TAT		ankyrin repeat and MYND domain containing 1							132.0	111.0	118.0					2																	241492385		2203	4300	6503	SO:0001819	synonymous_variant	51281						zinc ion binding	g.chr2:241492385G>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.159C>T	2.37:g.241492385G>A						ANKMY1_uc002vza.1_Silent_p.Y142Y|ANKMY1_uc010fzd.1_Silent_p.Y142Y|ANKMY1_uc002vzb.1_Silent_p.Y142Y|ANKMY1_uc002vzc.1_Silent_p.Y142Y|ANKMY1_uc002vzd.1_Silent_p.Y142Y|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Silent_p.Y44Y|ANKMY1_uc002vzf.2_Silent_p.Y44Y	p.Y53Y	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	3	388	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	53					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	c.159C>T	CCDS2536.1																																																																																				0.567	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		36	56	0	0	0	0	36	56				
PRNP	5621	broad.mit.edu	37	20	4680247	4680247	+	Silent	SNP	C	C	A	rs11538754		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr20:4680247C>A	ENST00000379440.4	+	2	668	c.381C>A	c.(379-381)ggC>ggA	p.G127G	PRNP_ENST00000430350.2_Silent_p.G127G	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						GCCTTGGCGGCTACATGCTGG	0.557																																						uc002wku.2		NA																	0				central_nervous_system(1)	1						c.(379-381)GGC>GGA		prion protein preproprotein	Tetracycline(DB00759)						69.0	55.0	60.0					20																	4680247		2203	4300	6503	SO:0001819	synonymous_variant	5621				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	g.chr20:4680247C>A	M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.381C>A	20.37:g.4680247C>A						PRNP_uc002wkv.2_Silent_p.G127G|PRNP_uc002wkw.2_Silent_p.G127G|PRNP_uc002wkx.2_Silent_p.G127G|PRNP_uc002wkt.1_Silent_p.G97G|PRNP_uc002wky.2_Silent_p.G127G|PRNP_uc010gbe.1_Silent_p.G127G	p.G127G	NM_001080122	NP_001073591	P04156	PRIO_HUMAN			2	744	+			127			Interaction with GRB2, ERI3 and SYN1 (By similarity).			Silent	SNP	ENST00000379440.4	37	c.381C>A	CCDS13080.1																																																																																				0.557	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077820.2	NM_000311		32	37	1	0	7.65e-07	9.73e-07	32	37				
PCSK2	5126	broad.mit.edu	37	20	17462446	17462446	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr20:17462446G>C	ENST00000262545.2	+	12	1963	c.1648G>C	c.(1648-1650)Gac>Cac	p.D550H	PCSK2_ENST00000377899.1_Missense_Mutation_p.D531H|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.D515H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	550					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGTGGGCTTTGACAAGTGGCC	0.597																																						uc002wpm.2		NA																	0				ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1648-1650)GAC>CAC		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						78.0	66.0	70.0					20																	17462446		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17462446G>C	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1648G>C	20.37:g.17462446G>C	ENSP00000262545:p.Asp550His					PCSK2_uc002wpl.2_Missense_Mutation_p.D531H|PCSK2_uc010zrm.1_Missense_Mutation_p.D515H|PCSK2_uc002wpn.2_Missense_Mutation_p.D204H	p.D550H	NM_002594	NP_002585	P16519	NEC2_HUMAN			12	1968	+			550					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1648G>C	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295393	0.81025	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.76839	-1.05;-1.05;-1.05	5.63	5.63	0.86233	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.84651	0.5519	L	0.51422	1.61	0.80722	D	1	D;D;B	0.54964	0.969;0.969;0.14	D;D;B	0.63703	0.917;0.917;0.222	D	0.83597	0.0126	10	0.46703	T	0.11	-49.6829	18.6061	0.91266	0.0:0.0:1.0:0.0	.	515;531;550	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	H	531;550;515	ENSP00000367131:D531H;ENSP00000262545:D550H;ENSP00000437458:D515H	ENSP00000262545:D550H	D	+	1	0	PCSK2	17410446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.784000	0.85713	2.803000	0.96430	0.585000	0.79938	GAC		0.597	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		11	31	0	0	0	0	11	31				
SON	6651	broad.mit.edu	37	21	34926744	34926744	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr21:34926744C>T	ENST00000356577.4	+	3	5682	c.5207C>T	c.(5206-5208)cCg>cTg	p.P1736L	SON_ENST00000290239.6_Missense_Mutation_p.P1736L|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P1736L|SON_ENST00000300278.4_Missense_Mutation_p.P1736L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1736					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTAGTGAGACCGTTACTTCCT	0.453																																						uc002yse.1		NA																	0				ovary(4)|skin(2)	6						c.(5206-5208)CCG>CTG		SON DNA-binding protein isoform F							141.0	135.0	137.0					21																	34926744		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34926744C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.5207C>T	21.37:g.34926744C>T	ENSP00000348984:p.Pro1736Leu					SON_uc002ysb.1_Missense_Mutation_p.P1736L|SON_uc002ysc.2_Missense_Mutation_p.P1736L|SON_uc002ysd.2_Missense_Mutation_p.P727L|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.P727L	p.P1736L	NM_138927	NP_620305	P18583	SON_HUMAN			3	5256	+			1736					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.5207C>T	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.22|17.22	3.333933|3.333933	0.60853|0.60853	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.31769|.	1.59;1.48;1.68;1.48|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.51477|.	D|.	0.000098|.	T|T	0.70937|0.70937	0.3281|0.3281	L|L	0.56769|0.56769	1.78|1.78	0.47094|0.47094	D|D	0.99931|0.99931	D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0|.	D;D;D;D;D|.	0.87578|.	0.977;0.92;0.963;0.988;0.998|.	T|T	0.68281|0.68281	-0.5450|-0.5450	10|5	0.87932|.	D|.	0|.	.|.	16.3331|16.3331	0.83050|0.83050	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1736;1736;1417;1736;1736|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	L|C	1736|731	ENSP00000348984:P1736L;ENSP00000290239:P1736L;ENSP00000300278:P1736L;ENSP00000371095:P1736L|.	ENSP00000290239:P1736L|.	P|R	+|+	2|1	0|0	SON|SON	33848614|33848614	0.939000|0.939000	0.31865|0.31865	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	1.108000|1.108000	0.31123|0.31123	2.640000|2.640000	0.89533|0.89533	0.591000|0.591000	0.81541|0.81541	CCG|CGT		0.453	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		21	77	0	0	0	0	21	77				
SMTN	6525	broad.mit.edu	37	22	31485785	31485785	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr22:31485785T>C	ENST00000347557.2	+	7	790	c.572T>C	c.(571-573)cTg>cCg	p.L191P	SMTN_ENST00000333137.7_Missense_Mutation_p.L191P|SMTN_ENST00000358743.1_Missense_Mutation_p.L191P	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	191					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACACTCCTGCTGCGAGCCCCA	0.637																																						uc003ajl.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(571-573)CTG>CCG		smoothelin isoform c							72.0	60.0	64.0					22																	31485785		2203	4300	6503	SO:0001583	missense	6525				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	g.chr22:31485785T>C	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.572T>C	22.37:g.31485785T>C	ENSP00000328635:p.Leu191Pro					SMTN_uc003ajk.1_Missense_Mutation_p.L191P|SMTN_uc003ajm.1_Missense_Mutation_p.L191P|SMTN_uc011ale.1_Missense_Mutation_p.L245P|SMTN_uc011alf.1_Missense_Mutation_p.L247P|SMTN_uc003ajn.1_Missense_Mutation_p.L183P|SMTN_uc011alg.1_5'Flank	p.L191P	NM_006932	NP_008863	P53814	SMTN_HUMAN			7	790	+			191					O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	ENST00000347557.2	37	c.572T>C	CCDS13886.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.915402	0.52546	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.70516	-0.07;-0.49;-0.49	4.4	4.4	0.53042	.	0.302211	0.18341	N	0.144195	T	0.74839	0.3769	L	0.29908	0.895	0.80722	D	1	D;B;D;D;B;D	0.71674	0.995;0.025;0.998;0.998;0.025;0.997	D;B;D;D;B;D	0.80764	0.986;0.016;0.991;0.991;0.009;0.994	T	0.76788	-0.2830	10	0.87932	D	0	-8.4132	11.8789	0.52562	0.0:0.0:0.0:1.0	.	247;245;183;191;191;191	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	P	191;191;191;191;183	ENSP00000351593:L191P;ENSP00000328635:L191P;ENSP00000329532:L191P	ENSP00000329393:L191P	L	+	2	0	SMTN	29815785	0.575000	0.26692	0.976000	0.42696	0.666000	0.39218	0.932000	0.28884	2.211000	0.71520	0.460000	0.39030	CTG		0.637	SMTN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321766.1	NM_134270		14	51	0	0	0	0	14	51				
CACNG2	10369	broad.mit.edu	37	22	37098605	37098605	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr22:37098605C>G	ENST00000300105.6	-	1	998	c.17G>C	c.(16-18)cGa>cCa	p.R6P	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	6					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TTGAACACCTCGATCAAACAG	0.468																																						uc003aps.1		NA																	0					0						c.(16-18)CGA>CCA		voltage-dependent calcium channel gamma-2							110.0	103.0	106.0					22																	37098605		2203	4300	6503	SO:0001583	missense	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:37098605C>G	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.17G>C	22.37:g.37098605C>G	ENSP00000300105:p.Arg6Pro					uc003apt.1_5'Flank	p.R6P	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN			1	299	-			6					Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	37	c.17G>C	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	c	17.62	3.435491	0.62955	.	.	ENSG00000166862	ENST00000300105	T	0.55052	0.54	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000001	T	0.59514	0.2199	M	0.82517	2.595	0.52501	D	0.999953	B	0.12013	0.005	B	0.08055	0.003	T	0.63409	-0.6644	10	0.66056	D	0.02	-1.8246	17.8695	0.88807	0.0:1.0:0.0:0.0	.	6	Q9Y698	CCG2_HUMAN	P	6	ENSP00000300105:R6P	ENSP00000300105:R6P	R	-	2	0	CACNG2	35428551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.592000	0.67543	2.180000	0.69256	0.546000	0.68486	CGA		0.468	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			13	85	0	0	0	0	13	85				
CMTM8	152189	broad.mit.edu	37	3	32398887	32398887	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr3:32398887C>T	ENST00000307526.3	+	2	464	c.170C>T	c.(169-171)aCg>aTg	p.T57M	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	57	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CTGGTATGGACGCTTATTGCT	0.483																																						uc003cex.2		NA																	0					0						c.(169-171)ACG>ATG		CKLF-like MARVEL transmembrane domain containing							163.0	156.0	158.0					3																	32398887		2203	4300	6503	SO:0001583	missense	152189				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr3:32398887C>T	AF474370	CCDS2652.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000170293	ENSG00000170293			19179	protein-coding gene	gene with protein product		607891	"""chemokine-like factor super family 8"", ""chemokine-like factor superfamily 8"""	CKLFSF8			Standard	NM_178868		Approved		uc003cex.3	Q8IZV2	OTTHUMG00000130753	ENST00000307526.3:c.170C>T	3.37:g.32398887C>T	ENSP00000307741:p.Thr57Met					CMTM8_uc010hfu.2_Intron	p.T57M	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN			2	464	+			57			Helical; (Potential).|MARVEL.		A5D6I7|Q8IW01	Missense_Mutation	SNP	ENST00000307526.3	37	c.170C>T	CCDS2652.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905009	0.72868	.	.	ENSG00000170293	ENST00000307526	T	0.25749	1.78	6.08	6.08	0.98989	Marvel (1);MARVEL-like domain (1);	0.063681	0.64402	D	0.000006	T	0.49440	0.1557	L	0.55481	1.735	0.47994	D	0.999569	D	0.89917	1.0	D	0.71414	0.973	T	0.26815	-1.0092	10	0.54805	T	0.06	-19.5599	20.6721	0.99693	0.0:1.0:0.0:0.0	.	57	Q8IZV2	CKLF8_HUMAN	M	57	ENSP00000307741:T57M	ENSP00000307741:T57M	T	+	2	0	CMTM8	32373891	1.000000	0.71417	0.971000	0.41717	0.538000	0.34931	4.569000	0.60865	2.894000	0.99253	0.591000	0.81541	ACG		0.483	CMTM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253253.1	NM_178868		22	60	0	0	0	0	22	60				
ADAMTS9	56999	broad.mit.edu	37	3	64641512	64641512	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr3:64641512T>G	ENST00000498707.1	-	5	1351	c.1009A>C	c.(1009-1011)Att>Ctt	p.I337L	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.I337L|ADAMTS9_ENST00000295903.4_Intron	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	337	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACAATATTAATTAAATTTCCA	0.294																																						uc003dmg.2		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(1009-1011)ATT>CTT		ADAM metallopeptidase with thrombospondin type 1							29.0	32.0	31.0					3																	64641512		2189	4285	6474	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64641512T>G	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.1009A>C	3.37:g.64641512T>G	ENSP00000418735:p.Ile337Leu					ADAMTS9_uc011bfo.1_Intron|ADAMTS9_uc003dmh.1_Missense_Mutation_p.I166L|ADAMTS9_uc003dmk.1_Missense_Mutation_p.I337L	p.I337L	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	5	1041	-		Lung NSC(201;0.00682)	337			Peptidase M12B.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.1009A>C	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634707	0.87660	.	.	ENSG00000163638	ENST00000498707;ENST00000459780	T;T	0.65364	-0.15;-0.15	5.67	5.67	0.87782	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.77955	0.4208	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.87578	0.998;0.995;0.947	T	0.80417	-0.1391	10	0.87932	D	0	.	15.9005	0.79373	0.0:0.0:0.0:1.0	.	337;337;337	Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;ATS9_HUMAN	L	337	ENSP00000418735:I337L;ENSP00000419217:I337L	ENSP00000419217:I337L	I	-	1	0	ADAMTS9	64616552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.621000	0.83083	2.155000	0.67459	0.460000	0.39030	ATT		0.294	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			18	6	0	0	0	0	18	6				
ABLIM2	84448	broad.mit.edu	37	4	8009911	8009911	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:8009911A>G	ENST00000341937.5	-	15	1455	c.1391T>C	c.(1390-1392)cTg>cCg	p.L464P	ABLIM2_ENST00000361737.5_Missense_Mutation_p.L423P|ABLIM2_ENST00000428004.2_Missense_Mutation_p.L424P|ABLIM2_ENST00000505872.1_Missense_Mutation_p.L412P|ABLIM2_ENST00000407564.3_Missense_Mutation_p.L413P|ABLIM2_ENST00000296372.8_Missense_Mutation_p.L465P|ABLIM2_ENST00000318888.4_Missense_Mutation_p.L199P|ABLIM2_ENST00000546334.1_Missense_Mutation_p.L423P|ABLIM2_ENST00000447017.2_Missense_Mutation_p.L498P|ABLIM2_ENST00000545242.1_Missense_Mutation_p.L464P|ABLIM2_ENST00000361581.5_Missense_Mutation_p.L464P|ABLIM2_ENST00000514025.1_Missense_Mutation_p.L199P|MIR95_ENST00000385072.1_RNA	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	464					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTTGAGCATCAGCCAGCTGCT	0.527																																						uc003gko.2		NA																	0				pancreas(3)	3						c.(1390-1392)CTG>CCG		actin binding LIM protein family, member 2							85.0	90.0	88.0					4																	8009911		2035	4192	6227	SO:0001583	missense	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8009911A>G	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.1391T>C	4.37:g.8009911A>G	ENSP00000342813:p.Leu464Pro					ABLIM2_uc003gkk.2_Missense_Mutation_p.L128P|ABLIM2_uc003gkl.2_Missense_Mutation_p.L192P|ABLIM2_uc003gkj.3_Missense_Mutation_p.L498P|ABLIM2_uc003gkm.3_Missense_Mutation_p.L412P|ABLIM2_uc003gkp.2_Missense_Mutation_p.L423P|ABLIM2_uc003gkq.2_Missense_Mutation_p.L464P|ABLIM2_uc003gkr.2_Missense_Mutation_p.L413P|ABLIM2_uc003gks.3_Missense_Mutation_p.L424P|MIR95_hsa-mir-95|MI0000097_5'Flank	p.L464P	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN			15	1534	-			464					E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Missense_Mutation	SNP	ENST00000341937.5	37	c.1391T>C	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	A	16.90	3.248782	0.59103	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000318888;ENST00000514025;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004;ENST00000510277	T;T;T;T;T;T;T;T;T;T;T;T;T	0.53423	1.25;1.5;1.54;1.25;0.62;0.62;1.57;1.73;1.53;1.21;1.23;0.66;0.66	4.78	4.78	0.61160	.	0.495631	0.18944	N	0.126847	T	0.62816	0.2459	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;P;D;B;D	0.76494	0.998;0.996;0.994;0.986;0.967;0.609;0.999;0.009;0.999	D;P;D;P;P;B;D;B;D	0.78314	0.943;0.823;0.926;0.742;0.866;0.253;0.991;0.029;0.982	T	0.64931	-0.6291	10	0.87932	D	0	.	10.7198	0.46034	1.0:0.0:0.0:0.0	.	424;413;464;423;464;412;199;465;498	Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;Q6H8Q1-4;Q6H8Q1-5;E9PF39	.;.;.;.;ABLM2_HUMAN;.;.;.;.	P	423;497;465;464;423;199;199;498;464;464;413;412;424;265	ENSP00000354887:L423P;ENSP00000296372:L465P;ENSP00000441255:L464P;ENSP00000444365:L423P;ENSP00000317020:L199P;ENSP00000423661:L199P;ENSP00000393511:L498P;ENSP00000342813:L464P;ENSP00000355003:L464P;ENSP00000384658:L413P;ENSP00000421283:L412P;ENSP00000389410:L424P;ENSP00000421718:L265P	ENSP00000296372:L465P	L	-	2	0	ABLIM2	8060811	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	4.518000	0.60510	1.794000	0.52575	0.454000	0.30748	CTG		0.527	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083		3	73	0	0	0	0	3	73				
HERC3	8916	broad.mit.edu	37	4	89583677	89583677	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:89583677C>T	ENST00000402738.1	+	11	1481	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	HERC3_ENST00000264345.3_Silent_p.L414L|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	414					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GACAAAAACTCTCAGAACACA	0.343																																						uc003hrw.1		NA																	0				lung(2)|prostate(1)|skin(1)	4						c.(1240-1242)CTC>CTT		hect domain and RLD 3							109.0	103.0	105.0					4																	89583677		2203	4300	6503	SO:0001819	synonymous_variant	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89583677C>T	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1242C>T	4.37:g.89583677C>T						HERC3_uc011cdn.1_Silent_p.L296L|HERC3_uc011cdo.1_Intron	p.L414L	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	11	1408	+			414					A8K1S5|Q8IXX3	Silent	SNP	ENST00000402738.1	37	c.1242C>T	CCDS34028.1																																																																																				0.343	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		5	32	0	0	0	0	5	32				
HERC3	8916	broad.mit.edu	37	4	89583679	89583679	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:89583679C>T	ENST00000402738.1	+	11	1483	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	HERC3_ENST00000264345.3_Missense_Mutation_p.S415L|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	415					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CAAAAACTCTCAGAACACAAC	0.348																																						uc003hrw.1		NA																	0				lung(2)|prostate(1)|skin(1)	4						c.(1243-1245)TCA>TTA		hect domain and RLD 3							107.0	102.0	104.0					4																	89583679		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89583679C>T	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1244C>T	4.37:g.89583679C>T	ENSP00000385684:p.Ser415Leu					HERC3_uc011cdn.1_Missense_Mutation_p.S297L|HERC3_uc011cdo.1_Intron	p.S415L	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	11	1410	+			415					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.1244C>T	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.560940	0.27827	.	.	ENSG00000138641	ENST00000402738;ENST00000264345	T;T	0.41065	1.01;1.01	4.57	4.57	0.56435	.	0.303423	0.31989	N	0.006746	T	0.20941	0.0504	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.07424	-1.0773	10	0.29301	T	0.29	.	8.4508	0.32869	0.0:0.821:0.0:0.179	.	415	Q15034	HERC3_HUMAN	L	415	ENSP00000385684:S415L;ENSP00000264345:S415L	ENSP00000264345:S415L	S	+	2	0	HERC3	89802702	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.486000	0.45259	2.526000	0.85167	0.655000	0.94253	TCA		0.348	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		5	33	0	0	0	0	5	33				
UNC5C	8633	broad.mit.edu	37	4	96140364	96140364	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:96140364G>C	ENST00000453304.1	-	9	1749	c.1401C>G	c.(1399-1401)aaC>aaG	p.N467K	UNC5C_ENST00000506749.1_Missense_Mutation_p.N486K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	467					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAATTGGAGAGTTGGTCATTG	0.522																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(1399-1401)AAC>AAG		unc5C precursor							346.0	330.0	335.0					4																	96140364		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140364G>C	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1401C>G	4.37:g.96140364G>C	ENSP00000406022:p.Asn467Lys					UNC5C_uc010ilc.1_Missense_Mutation_p.N486K|UNC5C_uc003htq.2_Missense_Mutation_p.N486K	p.N467K	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1555	-		Hepatocellular(203;0.114)	467			Cytoplasmic (Potential).		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1401C>G	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.507986	0.64410	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.58060	0.74;0.43;0.36	5.21	0.572	0.17357	.	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	M	0.81802	2.56	0.80722	D	1	P;D;D	0.60575	0.895;0.988;0.979	B;P;P	0.52343	0.23;0.696;0.525	T	0.63166	-0.6698	10	0.62326	D	0.03	.	10.5014	0.44808	0.4367:0.0:0.5633:0.0	.	467;486;467	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	K	467;426;486;486	ENSP00000406022:N467K;ENSP00000426924:N486K;ENSP00000426153:N486K	ENSP00000328673:N426K	N	-	3	2	UNC5C	96359387	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	0.794000	0.26958	-0.237000	0.09739	0.655000	0.94253	AAC		0.522	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		56	259	0	0	0	0	56	259				
ELOVL6	79071	broad.mit.edu	37	4	110980841	110980841	+	Silent	SNP	T	T	G	rs376849709		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:110980841T>G	ENST00000394607.3	-	4	454	c.291A>C	c.(289-291)tcA>tcC	p.S97S	ELOVL6_ENST00000506461.1_5'UTR|ELOVL6_ENST00000302274.3_Silent_p.S97S			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	97					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GGTCACAAACTGACTGCTTCA	0.413																																						uc003hzz.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)	1						c.(289-291)TCA>TCC		elongation of very long chain fatty acids-like		T	,	1,4405	2.1+/-5.4	0,1,2202	94.0	84.0	87.0		291,291	0.1	1.0	4		87	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ELOVL6	NM_001130721.1,NM_024090.2	,	0,1,6502	GG,GT,TT		0.0,0.0227,0.0077	,	97/266,97/266	110980841	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79071				fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding	g.chr4:110980841T>G	AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.291A>C	4.37:g.110980841T>G						ELOVL6_uc003iaa.2_Silent_p.S97S	p.S97S	NM_001130721	NP_001124193	Q9H5J4	ELOV6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00462)	4	417	-			97					Q4W5L0|Q8NCD1	Silent	SNP	ENST00000394607.3	37	c.291A>C	CCDS3690.1																																																																																				0.413	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255748.1	NM_024090		10	40	0	0	0	0	10	40				
ANK2	287	broad.mit.edu	37	4	114095604	114095604	+	Silent	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:114095604C>A	ENST00000357077.4	+	2	170	c.117C>A	c.(115-117)gcC>gcA	p.A39A	ANK2_ENST00000394537.3_Silent_p.A39A|ANK2_ENST00000506722.1_Silent_p.A18A|ANK2_ENST00000264366.6_Silent_p.A39A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	39					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCGTGCTGCCAGAGCAGGCA	0.433																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(115-117)GCC>GCA		ankyrin 2 isoform 1							65.0	57.0	60.0					4																	114095604		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114095604C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.117C>A	4.37:g.114095604C>A						ANK2_uc003ibd.3_Silent_p.A18A|ANK2_uc003ibf.3_Silent_p.A39A|ANK2_uc003ibc.2_Silent_p.A15A|ANK2_uc011cgb.1_Silent_p.A54A	p.A39A	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	2	217	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	39			ANK 1.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.117C>A	CCDS3702.1																																																																																				0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		6	31	1	0	0.000157383	0.000195644	6	31				
PDE5A	8654	broad.mit.edu	37	4	120427082	120427082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr4:120427082C>T	ENST00000354960.3	-	17	2514	c.2195G>A	c.(2194-2196)cGa>cAa	p.R732Q	PDE5A_ENST00000394439.1_Missense_Mutation_p.R680Q|PDE5A_ENST00000264805.5_Missense_Mutation_p.R690Q|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	732	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.G733delG(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AAATTCTCCTCGCCTCCTACA	0.318																																						uc003idh.2		NA																	1	Deletion - In frame(1)		prostate(1)		0						c.(2194-2196)CGA>CAA		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						36.0	38.0	37.0					4																	120427082		2197	4282	6479	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120427082C>T	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.2195G>A	4.37:g.120427082C>T	ENSP00000347046:p.Arg732Gln					uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.R690Q|PDE5A_uc003idg.2_Missense_Mutation_p.R680Q	p.R732Q	NM_001083	NP_001074	O76074	PDE5A_HUMAN			17	2350	-			732			Catalytic (By similarity).		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.2195G>A	CCDS3713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.432054|5.432054	0.96150|0.96150	.|.	.|.	ENSG00000138735|ENSG00000138735	ENST00000503412|ENST00000354960;ENST00000394439;ENST00000264805	.|T;T;T	.|0.81078	.|-1.45;-1.45;-1.45	5.59|5.59	5.59|5.59	0.84812|0.84812	.|Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91499|0.91499	0.7316|0.7316	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;P	.|0.85130	.|0.997;0.805	D|D	0.91884|0.91884	0.5518|0.5518	5|10	.|0.62326	.|D	.|0.03	.|.	19.9507|19.9507	0.97198|0.97198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|732;690	.|O76074;O76074-2	.|PDE5A_HUMAN;.	K|Q	84|732;680;690	.|ENSP00000347046:R732Q;ENSP00000377957:R680Q;ENSP00000264805:R690Q	.|ENSP00000264805:R690Q	E|R	-|-	1|2	0|0	PDE5A|PDE5A	120646530|120646530	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.968000|0.968000	0.65278|0.65278	6.758000|6.758000	0.74929|0.74929	2.763000|2.763000	0.94921|0.94921	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.318	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		6	39	0	0	0	0	6	39				
PLEKHG4B	153478	broad.mit.edu	37	5	140744	140744	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:140744T>C	ENST00000283426.6	+	1	372	c.322T>C	c.(322-324)Tcc>Ccc	p.S108P	CTD-2231H16.1_ENST00000512035.1_lincRNA	NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	108							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTCAGCAGGCTCCAGGCCTGG	0.647																																						uc003jak.2		NA																	0				skin(2)	2						c.(322-324)TCC>CCC		pleckstrin homology domain containing, family G							17.0	22.0	20.0					5																	140744		2178	4277	6455	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:140744T>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.322T>C	5.37:g.140744T>C	ENSP00000283426:p.Ser108Pro						p.S108P	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	1	372	+			108						Missense_Mutation	SNP	ENST00000283426.6	37	c.322T>C	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	.	8.350	0.830738	0.16820	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.30981	1.51;2.79	2.59	-4.56	0.03431	.	.	.	.	.	T	0.11537	0.0281	N	0.08118	0	0.09310	N	1	B	0.19706	0.038	B	0.08055	0.003	T	0.22103	-1.0226	9	0.27785	T	0.31	.	4.5905	0.12304	0.2139:0.0:0.5862:0.1999	.	108	Q96PX9	PKH4B_HUMAN	P	108;22	ENSP00000283426:S108P;ENSP00000422493:S22P	ENSP00000283426:S108P	S	+	1	0	PLEKHG4B	193744	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-3.305000	0.00519	-1.312000	0.02306	-0.806000	0.03193	TCC		0.647	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		10	63	0	0	0	0	10	63				
ADCY2	108	broad.mit.edu	37	5	7757570	7757570	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:7757570C>A	ENST00000338316.4	+	16	2054	c.1965C>A	c.(1963-1965)agC>agA	p.S655R	ADCY2_ENST00000537121.1_Missense_Mutation_p.S475R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	655					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGCAATGCAGCAAAAAAGCCT	0.488																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1963-1965)AGC>AGA		adenylate cyclase 2							128.0	134.0	132.0					5																	7757570		2203	4300	6503	SO:0001583	missense	108				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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7757570C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1965C>A	5.37:g.7757570C>A	ENSP00000342952:p.Ser655Arg					ADCY2_uc011cmo.1_Missense_Mutation_p.S475R	p.S655R	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			16	2032	+			655					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1965C>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	9.360	1.067676	0.20067	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.40225	1.04;1.04	5.49	3.72	0.42706	.	0.246313	0.48767	D	0.000162	T	0.27313	0.0670	L	0.27053	0.805	0.34985	D	0.754474	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.22800	-1.0206	10	0.23302	T	0.38	.	9.491	0.38960	0.0:0.834:0.0:0.166	.	475;655	B7Z2C1;Q08462	.;ADCY2_HUMAN	R	655;488;475	ENSP00000342952:S655R;ENSP00000444803:S475R	ENSP00000342952:S655R	S	+	3	2	ADCY2	7810570	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.053000	0.30442	0.685000	0.31468	0.655000	0.94253	AGC		0.488	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		73	98	1	0	2.41e-23	3.31e-23	73	98				
SEMA5A	9037	broad.mit.edu	37	5	9066619	9066619	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:9066619G>T	ENST00000382496.5	-	17	2878	c.2213C>A	c.(2212-2214)gCt>gAt	p.A738D		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	738	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATTCGGATCAGCCAGGCGGGC	0.542																																						uc003jek.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2212-2214)GCT>GAT		semaphorin 5A precursor							162.0	153.0	156.0					5																	9066619		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9066619G>T	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2213C>A	5.37:g.9066619G>T	ENSP00000371936:p.Ala738Asp						p.A738D	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			17	2925	-			738			TSP type-1 4.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2213C>A	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921372	0.73213	.	.	ENSG00000112902	ENST00000382496	T	0.35789	1.29	5.82	5.82	0.92795	.	0.048467	0.85682	D	0.000000	T	0.30854	0.0778	L	0.28400	0.85	0.35187	D	0.773049	B	0.23650	0.089	B	0.25405	0.06	T	0.25293	-1.0136	10	0.30854	T	0.27	.	17.5918	0.87999	0.0:0.0:1.0:0.0	.	738	Q13591	SEM5A_HUMAN	D	738	ENSP00000371936:A738D	ENSP00000371936:A738D	A	-	2	0	SEMA5A	9119619	1.000000	0.71417	0.967000	0.41034	0.837000	0.47467	9.468000	0.97676	2.761000	0.94854	0.591000	0.81541	GCT		0.542	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			32	150	1	0	9.78e-22	1.34e-21	32	150				
ANKH	56172	broad.mit.edu	37	5	14758660	14758660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:14758660C>T	ENST00000284268.6	-	3	691	c.361G>A	c.(361-363)Gac>Aac	p.D121N	ANKH_ENST00000503939.1_5'Flank	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	121					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACCGACTCGTCCACATGGTGC	0.433																																						uc003jfm.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(361-363)GAC>AAC		progressive ankylosis protein							130.0	118.0	122.0					5																	14758660		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14758660C>T	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.361G>A	5.37:g.14758660C>T	ENSP00000284268:p.Asp121Asn						p.D121N	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN			3	692	-			121			Extracellular (Potential).		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.361G>A	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593599	0.66219	.	.	ENSG00000154122	ENST00000284268	D	0.96136	-3.92	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.96574	0.8882	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.96028	0.9014	10	0.39692	T	0.17	-11.7528	18.4049	0.90532	0.0:1.0:0.0:0.0	.	121	Q9HCJ1	ANKH_HUMAN	N	121	ENSP00000284268:D121N	ENSP00000284268:D121N	D	-	1	0	ANKH	14811660	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.757000	0.85209	2.588000	0.87417	0.563000	0.77884	GAC		0.433	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		12	63	0	0	0	0	12	63				
ITGA1	3672	broad.mit.edu	37	5	52201636	52201636	+	Silent	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:52201636C>G	ENST00000282588.6	+	12	1811	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	451					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GAGATGTGCTCTATATTGCTG	0.433																																						uc003jou.2		NA																	0				ovary(2)|lung(1)	3						c.(1351-1353)CTC>CTG		integrin, alpha 1 precursor							138.0	127.0	131.0					5																	52201636		2203	4300	6503	SO:0001819	synonymous_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52201636C>G	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1353C>G	5.37:g.52201636C>G						ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_5'UTR	p.L451L	NM_181501	NP_852478	P56199	ITA1_HUMAN			12	1405	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	451			FG-GAP 4.|Extracellular (Potential).		B2RNU0	Silent	SNP	ENST00000282588.6	37	c.1353C>G	CCDS3955.1																																																																																				0.433	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		14	37	0	0	0	0	14	37				
MAST4	375449	broad.mit.edu	37	5	66459360	66459360	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:66459360G>A	ENST00000403625.2	+	29	4648	c.4353G>A	c.(4351-4353)tcG>tcA	p.S1451S	MAST4_ENST00000403666.1_Silent_p.S1262S|MAST4_ENST00000404260.3_Silent_p.S1454S|MAST4_ENST00000261569.7_Silent_p.S1257S|MAST4_ENST00000405643.1_Silent_p.S1272S	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1454						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAGCTGTCGCCCTCTTACG	0.667																																						uc003jut.1		NA																	0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(3784-3786)TCG>TCA		microtubule associated serine/threonine kinase							18.0	23.0	21.0					5																	66459360		2086	4215	6301	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66459360G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4353G>A	5.37:g.66459360G>A						MAST4_uc003juw.2_Silent_p.S1190S|MAST4_uc003jux.2_5'Flank	p.S1262S	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	3854	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1454					A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.3786G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	6.558	0.471214	0.12461	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.7	-11.4	0.00090	.	.	.	.	.	T	0.33352	0.0860	.	.	.	0.51767	D	0.999939	.	.	.	.	.	.	T	0.48175	-0.9058	4	.	.	.	-9.7395	3.1337	0.06431	0.2291:0.3779:0.2491:0.1439	.	.	.	.	T	508	.	.	A	+	1	0	MAST4	66495116	0.000000	0.05858	0.003000	0.11579	0.874000	0.50279	-4.246000	0.00267	-3.497000	0.00152	-0.806000	0.03193	GCC		0.667	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			10	12	0	0	0	0	10	12				
ANKHD1	54882	broad.mit.edu	37	5	139903729	139903729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:139903729G>T	ENST00000360839.2	+	25	4550	c.4396G>T	c.(4396-4398)Gaa>Taa	p.E1466*	ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.E1466*|ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.E1466*|ANKHD1_ENST00000544120.1_5'Flank	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1466						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gaaaaaagaggaacagaaaag	0.368																																						uc003lfs.1		NA																	0				ovary(6)	6						c.(4396-4398)GAA>TAA		ANKHD1-EIF4EBP3 protein							103.0	99.0	100.0					5																	139903729		2203	4300	6503	SO:0001587	stop_gained	404734					cytoplasm|nucleus	RNA binding	g.chr5:139903729G>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4396G>T	5.37:g.139903729G>T	ENSP00000354085:p.Glu1466*					ANKHD1_uc003lfq.1_Nonsense_Mutation_p.E1485*|ANKHD1_uc003lfr.2_Nonsense_Mutation_p.E1466*|ANKHD1_uc003lft.1_Nonsense_Mutation_p.E677*|ANKHD1_uc003lfu.1_Nonsense_Mutation_p.E946*|ANKHD1_uc003lfv.1_Nonsense_Mutation_p.E543*|ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.E205*|ANKHD1_uc003lfw.2_Nonsense_Mutation_p.E104*|ANKHD1_uc010jfl.2_5'Flank	p.E1466*	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		25	4520	+			1466					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	ENST00000360839.2	37	c.4396G>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.918048|10.918048	0.99489|0.99489	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000235510;ENST00000421134;ENST00000431508;ENST00000532219|ENST00000310356	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.482968|.	0.20794|.	N|.	0.085576|.	.|T	.|0.75693	.|0.3884	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79085	.|-0.1948	.|4	0.32370|0.59425	T|D	0.25|0.04	.|.	17.2239|17.2239	0.86964|0.86964	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	1466;1466;1466;677;1485;122;1466|999	.|.	ENSP00000432016:E1466X|ENSP00000311332:G999V	E|G	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139883913|139883913	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.996000|0.996000	0.88848|0.88848	8.127000|8.127000	0.89593|0.89593	2.479000|2.479000	0.83701|0.83701	0.650000|0.650000	0.86243|0.86243	GAA|GGA		0.368	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		9	14	1	0	1.77e-08	2.28e-08	9	14				
PCDHA3	56145	broad.mit.edu	37	5	140181071	140181071	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:140181071G>C	ENST00000522353.2	+	1	289	c.289G>C	c.(289-291)Ggg>Cgg	p.G97R	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G97R|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	97	Cadherin 1. {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.G97R(2)|p.G97W(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAACTGTGCGGGCGGAGCGC	0.557																																						uc003lhf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|skin(2)	8						c.(289-291)GGG>CGG		protocadherin alpha 3 isoform 1 precursor							129.0	144.0	139.0					5																	140181071		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140181071G>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.289G>C	5.37:g.140181071G>C	ENSP00000429808:p.Gly97Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G97R	p.G97R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	289	+			97			Cadherin 1.|Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.289G>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	11.54	1.668997	0.29604	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.30981	1.51;1.51	4.51	4.51	0.55191	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.171277	0.26840	U	0.022223	T	0.46425	0.1392	M	0.71206	2.165	0.23249	N	0.998041	P;P	0.51057	0.941;0.686	P;P	0.54270	0.747;0.49	T	0.39143	-0.9628	10	0.52906	T	0.07	.	13.3391	0.60535	0.0:0.1587:0.8413:0.0	.	97;97	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	R	97	ENSP00000429808:G97R;ENSP00000434086:G97R	ENSP00000429808:G97R	G	+	1	0	PCDHA3	140161255	0.456000	0.25744	1.000000	0.80357	0.357000	0.29423	1.966000	0.40481	2.228000	0.72767	0.467000	0.42956	GGG		0.557	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		6	259	0	0	0	0	6	259				
MSX2	4488	broad.mit.edu	37	5	174156337	174156337	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:174156337G>T	ENST00000239243.6	+	2	682	c.555G>T	c.(553-555)caG>caT	p.Q185H		NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	185					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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 (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGAGACCCAGGTCAAAATCT	0.547																																						uc003mcy.2		NA																	0					0						c.(553-555)CAG>CAT		msh homeobox 2							58.0	59.0	58.0					5																	174156337		2203	4300	6503	SO:0001583	missense	4488				cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:174156337G>T	D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.555G>T	5.37:g.174156337G>T	ENSP00000239243:p.Gln185His						p.Q185H	NM_002449	NP_002440	P35548	MSX2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	643	+	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	185			Homeobox.		D3DQN1|Q53XM4|Q9UD60	Missense_Mutation	SNP	ENST00000239243.6	37	c.555G>T	CCDS4392.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258905	0.80246	.	.	ENSG00000120149	ENST00000239243	D	0.97114	-4.25	5.83	5.83	0.93111	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98726	0.9572	M	0.92412	3.305	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.99323	1.0907	10	0.87932	D	0	-25.2987	14.2921	0.66286	0.0708:0.0:0.9292:0.0	.	185	P35548	MSX2_HUMAN	H	185	ENSP00000239243:Q185H	ENSP00000239243:Q185H	Q	+	3	2	MSX2	174088943	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.131000	0.57970	2.762000	0.94881	0.591000	0.81541	CAG		0.547	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252981.3			13	58	1	0	4.37e-10	5.78e-10	13	58				
DSP	1832	broad.mit.edu	37	6	7585071	7585071	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:7585071A>G	ENST00000379802.3	+	24	7917	c.7576A>G	c.(7576-7578)Agt>Ggt	p.S2526G	DSP_ENST00000418664.2_Missense_Mutation_p.S1927G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2526	Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGACAGGCAGTCAGTATGA	0.473																																						uc003mxp.1		NA																	0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(7576-7578)AGT>GGT		desmoplakin isoform I							125.0	113.0	117.0					6																	7585071		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585071A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7576A>G	6.37:g.7585071A>G	ENSP00000369129:p.Ser2526Gly					DSP_uc003mxq.1_Missense_Mutation_p.S1927G	p.S2526G	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	7855	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2526			Plectin 13.|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.7576A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.607208	0.28623	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.67345	-0.26;-0.26	5.81	5.81	0.92471	.	0.072399	0.64402	D	0.000017	T	0.36386	0.0965	N	0.22421	0.69	0.20563	N	0.999881	P;B	0.41848	0.763;0.02	B;B	0.37451	0.25;0.01	T	0.32824	-0.9892	10	0.28530	T	0.3	.	16.1699	0.81801	1.0:0.0:0.0:0.0	.	1974;2526	Q4LE79;P15924	.;DESP_HUMAN	G	2526;1927	ENSP00000369129:S2526G;ENSP00000396591:S1927G	ENSP00000369129:S2526G	S	+	1	0	DSP	7530070	0.989000	0.36119	1.000000	0.80357	0.993000	0.82548	3.543000	0.53633	2.217000	0.71921	0.533000	0.62120	AGT		0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		24	90	0	0	0	0	24	90				
GCNT2	2651	broad.mit.edu	37	6	10529730	10529730	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:10529730C>T	ENST00000379597.3	+	1	1142	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Missense_Mutation_p.P196S|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	196					maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCAAGACTTTCCCCTGAAAAC	0.532																																						uc010joo.2		NA																	0				ovary(2)	2						c.(586-588)CCC>TCC		glucosaminyl (N-acetyl) transferase 2,							45.0	48.0	47.0					6																	10529730		2203	4300	6503	SO:0001583	missense	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10529730C>T	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.586C>T	6.37:g.10529730C>T	ENSP00000368917:p.Pro196Ser					GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Missense_Mutation_p.P195S|GCNT2_uc010jon.2_Missense_Mutation_p.P195S	p.P196S	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	3	1137	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	196			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000379597.3	37	c.586C>T	CCDS34338.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323896	0.81580	.	.	ENSG00000111846	ENST00000495262;ENST00000379597	T;T	0.25912	1.77;1.77	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73701	-0.3900	10	0.87932	D	0	-27.4225	18.9	0.92439	0.0:1.0:0.0:0.0	.	196;195	Q8N0V5;Q08M29	GNT2A_HUMAN;.	S	196	ENSP00000419411:P196S;ENSP00000368917:P196S	ENSP00000368917:P196S	P	+	1	0	GCNT2	10637716	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	4.761000	0.62243	2.636000	0.89361	0.655000	0.94253	CCC		0.532	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		38	34	0	0	0	0	38	34				
BTN1A1	696	broad.mit.edu	37	6	26505323	26505323	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:26505323T>C	ENST00000244513.6	+	3	664	c.598T>C	c.(598-600)Ttc>Ctc	p.F200L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	200	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAAGGTTTGTTCACTGTGGC	0.478																																						uc003nif.3		NA																	0				ovary(1)|skin(1)	2						c.(598-600)TTC>CTC		butyrophilin, subfamily 1, member A1 precursor							117.0	116.0	116.0					6																	26505323		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26505323T>C	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.598T>C	6.37:g.26505323T>C	ENSP00000244513:p.Phe200Leu						p.F200L	NM_001732	NP_001723	Q13410	BT1A1_HUMAN			3	618	+			200			Extracellular (Potential).|Ig-like V-type 2.		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.598T>C	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	T	17.28	3.350556	0.61183	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.07688	3.17	5.52	4.23	0.50019	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000013	T	0.07503	0.0189	M	0.82823	2.61	0.30944	N	0.725491	P	0.36222	0.544	B	0.39935	0.314	T	0.02975	-1.1087	10	0.54805	T	0.06	.	9.1554	0.36990	0.1743:0.0:0.0:0.8257	.	200	Q13410	BT1A1_HUMAN	L	200	ENSP00000244513:F200L	ENSP00000244513:F200L	F	+	1	0	BTN1A1	26613302	1.000000	0.71417	0.772000	0.31596	0.618000	0.37518	3.036000	0.49767	2.085000	0.62840	0.533000	0.62120	TTC		0.478	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		12	71	0	0	0	0	12	71				
ZNF322	79692	broad.mit.edu	37	6	26638669	26638669	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:26638669A>G	ENST00000415922.2	-	4	758	c.113T>C	c.(112-114)aTa>aCa	p.I38T	ZNF322_ENST00000471278.1_Missense_Mutation_p.I38T|ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	38					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATGACCATCTATCTGAATAAT	0.343																																						uc003nil.3		NA																	0					0						c.(112-114)ATA>ACA		zinc finger protein 322A							166.0	151.0	156.0					6																	26638669		2202	4295	6497	SO:0001583	missense	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26638669A>G	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.113T>C	6.37:g.26638669A>G	ENSP00000418897:p.Ile38Thr					ZNF322A_uc003nij.2_5'Flank	p.I38T	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN			4	742	-			38					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	c.113T>C	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	a	0.088	-1.171948	0.01646	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.06528	3.29;3.29	4.57	3.4	0.38934	.	0.270699	0.26586	N	0.023545	T	0.00412	0.0013	N	0.00569	-1.365	0.33817	D	0.628624	B	0.02656	0.0	B	0.01281	0.0	T	0.45411	-0.9263	10	0.02654	T	1	-8.7921	4.0324	0.09714	0.7232:0.0:0.0948:0.182	.	38	Q6U7Q0	ZN322_HUMAN	T	38	ENSP00000418897:I38T;ENSP00000419728:I38T	ENSP00000418897:I38T	I	-	2	0	ZNF322	26746648	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.087000	0.41653	1.052000	0.40392	0.533000	0.62120	ATA		0.343	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		37	179	0	0	0	0	37	179				
PGBD1	84547	broad.mit.edu	37	6	28251760	28251760	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:28251760G>A	ENST00000405948.2	+	2	590	c.170G>A	c.(169-171)gGa>gAa	p.G57E	PGBD1_ENST00000259883.3_Missense_Mutation_p.G57E	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	57	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.					membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGGCTCACGGACCCCAGGAA	0.587																																						uc003nky.2		NA																	0				ovary(4)	4						c.(169-171)GGA>GAA		piggyBac transposable element derived 1							72.0	71.0	71.0					6																	28251760		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28251760G>A	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.170G>A	6.37:g.28251760G>A	ENSP00000385213:p.Gly57Glu					PGBD1_uc003nkz.2_Missense_Mutation_p.G57E	p.G57E	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			2	540	+			57			SCAN box.		Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.170G>A	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387192	0.61956	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.05996	3.36;3.36	4.16	4.16	0.48862	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.26521	0.0648	M	0.92880	3.355	0.38128	D	0.938051	D	0.89917	1.0	D	0.97110	1.0	T	0.31447	-0.9943	9	0.87932	D	0	1.0174	16.4115	0.83713	0.0:0.0:1.0:0.0	.	57	Q96JS3	PGBD1_HUMAN	E	57	ENSP00000385213:G57E;ENSP00000259883:G57E	ENSP00000259883:G57E	G	+	2	0	PGBD1	28359739	1.000000	0.71417	0.935000	0.37517	0.288000	0.27193	1.834000	0.39171	2.586000	0.87340	0.655000	0.94253	GGA		0.587	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			53	52	0	0	0	0	53	52				
HLA-G	3135	broad.mit.edu	37	6	29796426	29796426	+	Silent	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:29796426G>T	ENST00000360323.6	+	3	474	c.450G>T	c.(448-450)ctG>ctT	p.L150L	HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000428701.1_Silent_p.L150L|HLA-G_ENST00000376828.2_Silent_p.L155L|HLA-G_ENST00000376818.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	150	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						ACCTCGCCCTGAACGAGGACC	0.617																																						uc003nnw.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(448-450)CTG>CTT		major histocompatibility complex, class I, G							117.0	105.0	109.0					6																	29796426		1511	2709	4220	SO:0001819	synonymous_variant	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29796426G>T		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.450G>T	6.37:g.29796426G>T						HLA-G_uc011dmb.1_Silent_p.L122L|HLA-G_uc003raj.3_Silent_p.L155L|HLA-G_uc003nnz.3_Intron|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Intron|HLA-G_uc003ran.1_5'Flank	p.L150L	NM_002127	NP_002118	P17693	HLAG_HUMAN			4	628	+			150			Extracellular (Potential).|Alpha-2.			Silent	SNP	ENST00000360323.6	37	c.450G>T	CCDS4668.1																																																																																				0.617	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		22	94	1	0	3.88e-16	5.3e-16	22	94				
FLOT1	10211	broad.mit.edu	37	6	30698343	30698343	+	Splice_Site	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:30698343C>G	ENST00000376389.3	-	11	1172		c.e11-1		FLOT1_ENST00000456573.2_Splice_Site	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	CCCCACGCATCTGAGGGTTAA	0.562																																						uc003nrm.2		NA																	0					0						c.e11-1		flotillin 1							90.0	98.0	95.0					6																	30698343		2203	4300	6503	SO:0001630	splice_region_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30698343C>G	AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.952-1G>C	6.37:g.30698343C>G						FLOT1_uc011dmr.1_Splice_Site_p.M270_splice	p.M318_splice	NM_005803	NP_005794	O75955	FLOT1_HUMAN			11	1116	-								B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Splice_Site	SNP	ENST00000376389.3	37	c.952_splice	CCDS4688.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.256409	0.80246	.	.	ENSG00000137312	ENST00000376389;ENST00000456573	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4709	0.75439	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLOT1	30806322	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.016000	0.64041	2.596000	0.87737	0.563000	0.77884	.		0.562	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2		Intron	43	183	0	0	0	0	43	183				
GRM4	2914	broad.mit.edu	37	6	34101096	34101096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:34101096G>A	ENST00000538487.2	-	2	621	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	GRM4_ENST00000374181.4_Missense_Mutation_p.R60W|GRM4_ENST00000374177.3_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	60					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCTGAGCCCCGGCCATGCACC	0.597																																						uc003oir.3		NA																	0				lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(178-180)CGG>TGG		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						51.0	44.0	47.0					6																	34101096		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34101096G>A	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.178C>T	6.37:g.34101096G>A	ENSP00000440556:p.Arg60Trp					GRM4_uc011dsn.1_Missense_Mutation_p.R60W|GRM4_uc010jvh.2_Missense_Mutation_p.R60W|GRM4_uc010jvi.2_5'UTR|GRM4_uc010jvk.1_5'UTR	p.R60W	NM_000841	NP_000832	Q14833	GRM4_HUMAN			1	348	-			60			Extracellular (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.178C>T	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172689	0.57584	.	.	ENSG00000124493	ENST00000374181;ENST00000538487	T;T	0.73047	-0.71;-0.71	4.0	3.04	0.35103	.	0.000000	0.85682	D	0.000000	T	0.72399	0.3455	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.994;0.999	P;P	0.58970	0.676;0.849	T	0.76165	-0.3059	10	0.87932	D	0	.	11.1954	0.48709	0.0:0.0:0.6847:0.3153	.	60;60	B7ZLU9;Q14833	.;GRM4_HUMAN	W	60	ENSP00000363296:R60W;ENSP00000440556:R60W	ENSP00000363296:R60W	R	-	1	2	GRM4	34209074	0.993000	0.37304	1.000000	0.80357	0.981000	0.71138	0.985000	0.29578	2.231000	0.72958	0.467000	0.42956	CGG		0.597	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			6	40	0	0	0	0	6	40				
RPL10A	4736	broad.mit.edu	37	6	35436736	35436736	+	Silent	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:35436736G>T	ENST00000322203.6	+	3	120	c.93G>T	c.(91-93)acG>acT	p.T31T	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	31					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.T31T(1)		breast(1)|large_intestine(2)|ovary(1)	4						TCCTGGAGACGGTGGAGTTGC	0.647																																						uc003okp.1		NA																	1	Substitution - coding silent(1)		breast(1)	ovary(1)	1						c.(91-93)ACG>ACT		ribosomal protein L10a							40.0	40.0	40.0					6																	35436736		2203	4300	6503	SO:0001819	synonymous_variant	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35436736G>T	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.93G>T	6.37:g.35436736G>T						RPL10A_uc003okq.1_5'UTR|RPL10A_uc003okr.1_5'UTR|RPL10A_uc003oks.1_5'UTR	p.T31T	NM_007104	NP_009035	P62906	RL10A_HUMAN			3	127	+			31					B2R801|P52859|P53025|Q5TZT6|Q8J013	Silent	SNP	ENST00000322203.6	37	c.93G>T	CCDS4806.1																																																																																				0.647	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		18	19	1	0	1.02e-10	1.36e-10	18	19				
BRPF3	27154	broad.mit.edu	37	6	36175199	36175199	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:36175199G>A	ENST00000357641.6	+	4	1968	c.1715G>A	c.(1714-1716)aGa>aAa	p.R572K	BRPF3_ENST00000534694.1_Missense_Mutation_p.R572K|BRPF3_ENST00000339717.7_Missense_Mutation_p.R572K|BRPF3_ENST00000543502.1_Missense_Mutation_p.R572K|BRPF3_ENST00000443324.2_Missense_Mutation_p.R572K|BRPF3_ENST00000534400.1_Missense_Mutation_p.R572K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	572					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ATTCGGAAGAGAGAGAAGCTC	0.537																																						uc003olv.3		NA																	0				ovary(1)|skin(1)	2						c.(1714-1716)AGA>AAA		bromodomain and PHD finger containing, 3							49.0	47.0	48.0					6																	36175199		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36175199G>A	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1715G>A	6.37:g.36175199G>A	ENSP00000350267:p.Arg572Lys					BRPF3_uc010jwb.2_Missense_Mutation_p.R572K|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.R572K	p.R572K	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			4	1939	+			572					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.1715G>A	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493163	0.84962	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.29397	1.87;1.97;1.94;1.97;1.94;1.57	4.86	4.86	0.63082	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	M	0.80422	2.495	0.58432	D	0.999999	D;D;D	0.69078	0.984;0.984;0.997	D;D;D	0.72625	0.956;0.956;0.978	T	0.59778	-0.7390	10	0.72032	D	0.01	.	18.3462	0.90322	0.0:0.0:1.0:0.0	.	572;572;572	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	K	572	ENSP00000350267:R572K;ENSP00000345419:R572K;ENSP00000434501:R572K;ENSP00000445352:R572K;ENSP00000387368:R572K;ENSP00000436504:R572K	ENSP00000345419:R572K	R	+	2	0	BRPF3	36283177	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	2.409000	0.81822	0.655000	0.94253	AGA		0.537	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		5	35	0	0	0	0	5	35				
LMBRD1	55788	broad.mit.edu	37	6	70386390	70386390	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:70386390G>A	ENST00000370577.3	-	15	1690	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	LMBRD1_ENST00000370570.1_Silent_p.F414F	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	487					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGAAGAACCAGAACTTGTGAA	0.383																																						uc003pfa.2		NA																	0				ovary(1)	1						c.(1459-1461)TTC>TTT		liver regeneration p-53 related protein							96.0	91.0	93.0					6																	70386390		2203	4300	6503	SO:0001819	synonymous_variant	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70386390G>A	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1461C>T	6.37:g.70386390G>A						LMBRD1_uc003pey.2_Silent_p.F283F|LMBRD1_uc003pez.2_Silent_p.F414F|LMBRD1_uc010kal.2_Silent_p.F414F|LMBRD1_uc003pfb.2_RNA	p.F487F	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			15	1576	-			487			Helical; Name=9; (Potential).		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	ENST00000370577.3	37	c.1461C>T	CCDS4969.1																																																																																				0.383	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		4	24	0	0	0	0	4	24				
ROS1	6098	broad.mit.edu	37	6	117641132	117641132	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:117641132G>C	ENST00000368508.3	-	36	6037	c.5839C>G	c.(5839-5841)Ctg>Gtg	p.L1947V	GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Missense_Mutation_p.L1941V	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1947	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGAGACGCAGAGTCAGTTTT	0.463			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(5839-5841)CTG>GTG		proto-oncogene c-ros-1 protein precursor							132.0	121.0	125.0					6																	117641132		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117641132G>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5839C>G	6.37:g.117641132G>C	ENSP00000357494:p.Leu1947Val					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Missense_Mutation_p.L273V	p.L1947V	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	36	6038	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1947			Protein kinase.|Cytoplasmic (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.5839C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.744942	0.69418	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.83992	-1.79;-1.79	5.65	5.65	0.86999	.	0.000000	0.49305	D	0.000156	D	0.87529	0.6200	M	0.67625	2.065	0.80722	D	1	D	0.63880	0.993	D	0.77004	0.989	D	0.88014	0.2764	10	0.66056	D	0.02	.	12.3723	0.55261	0.0854:0.0:0.9146:0.0	.	1947	P08922	ROS1_HUMAN	V	1947;1941	ENSP00000357494:L1947V;ENSP00000357493:L1941V	ENSP00000357493:L1941V	L	-	1	2	ROS1	117747825	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	3.340000	0.52143	2.824000	0.97209	0.655000	0.94253	CTG		0.463	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			17	35	0	0	0	0	17	35				
LRP11	84918	broad.mit.edu	37	6	150174187	150174187	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:150174187G>A	ENST00000239367.2	-	2	728	c.723C>T	c.(721-723)gtC>gtT	p.V241V	RP11-350J20.12_ENST00000472053.2_RNA|LRP11_ENST00000367368.2_Silent_p.V241V|LRP11_ENST00000546019.1_5'UTR	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	241	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		ACTCATACTGGACGATGGCGT	0.562																																						uc003qng.2		NA																	0					0						c.(721-723)GTC>GTT		low density lipoprotein receptor-related protein							92.0	79.0	83.0					6																	150174187		2203	4300	6503	SO:0001819	synonymous_variant	84918					integral to membrane	receptor activity	g.chr6:150174187G>A	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.723C>T	6.37:g.150174187G>A						LRP11_uc003qnh.1_Silent_p.V241V	p.V241V	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	2	1047	-		Ovarian(120;0.0907)	241			PKD.|Extracellular (Potential).		Q5VYC0|Q96SN6	Silent	SNP	ENST00000239367.2	37	c.723C>T	CCDS5220.1																																																																																				0.562	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		20	39	0	0	0	0	20	39				
ZBTB2	57621	broad.mit.edu	37	6	151694704	151694704	+	Silent	SNP	C	C	T	rs142578824		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:151694704C>T	ENST00000325144.4	-	2	209	c.69G>A	c.(67-69)ctG>ctA	p.L23L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TGCAGTCACACAGGAAACCAA	0.388																																						uc003qoh.2		NA																	0				skin(1)	1						c.(67-69)CTG>CTA		zinc finger and BTB domain containing 2							125.0	122.0	123.0					6																	151694704		2203	4300	6503	SO:0001819	synonymous_variant	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151694704C>T	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.69G>A	6.37:g.151694704C>T							p.L23L	NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	2	204	-			23					A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	37	c.69G>A	CCDS5231.1																																																																																				0.388	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		7	32	0	0	0	0	7	32				
PHF10	55274	broad.mit.edu	37	6	170112526	170112526	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr6:170112526C>T	ENST00000339209.4	-	8	1036	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	PHF10_ENST00000366780.4_Missense_Mutation_p.E303K	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	305	Essential to induce neural progenitor proliferation. {ECO:0000250}.				nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CGACCATCTTCGCCATCATCT	0.458																																						uc011egy.1		NA																	0				urinary_tract(1)	1						c.(913-915)GAA>AAA		PHD finger protein 10 isoform a							163.0	159.0	160.0					6																	170112526		2203	4300	6503	SO:0001583	missense	55274				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding	g.chr6:170112526C>T	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.913G>A	6.37:g.170112526C>T	ENSP00000341805:p.Glu305Lys					PHF10_uc011egz.1_Missense_Mutation_p.E303K|PHF10_uc011eha.1_Missense_Mutation_p.E156K	p.E305K	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)	8	992	-		Breast(66;5.08e-05)|Ovarian(120;0.208)	305			Essential to induce neural progenitor proliferation (By similarity).		Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	37	c.913G>A	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477564	0.63849	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.88975	-2.45;-2.45	5.35	5.35	0.76521	.	0.093763	0.64402	D	0.000001	D	0.83811	0.5335	M	0.62723	1.935	0.80722	D	1	P;D;B	0.56287	0.82;0.975;0.223	B;B;B	0.39590	0.054;0.304;0.01	D	0.85170	0.0997	10	0.42905	T	0.14	-31.3396	18.4165	0.90572	0.0:1.0:0.0:0.0	.	217;303;305	Q5T069;Q8WUB8-2;Q8WUB8	.;.;PHF10_HUMAN	K	303;305	ENSP00000355743:E303K;ENSP00000341805:E305K	ENSP00000341805:E305K	E	-	1	0	PHF10	169854451	1.000000	0.71417	0.650000	0.29550	0.404000	0.30871	7.211000	0.77933	2.673000	0.90976	0.585000	0.79938	GAA		0.458	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288		18	57	0	0	0	0	18	57				
CYP2W1	54905	broad.mit.edu	37	7	1026395	1026395	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:1026395G>A	ENST00000308919.7	+	5	794	c.781G>A	c.(781-783)Gtg>Atg	p.V261M	CYP2W1_ENST00000340150.6_Missense_Mutation_p.V205M	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	261					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GGGGGACCCCGTGTGCAGCTA	0.682																																						uc003sjq.1		NA																	0					0						c.(781-783)GTG>ATG		cytochrome P450, family 2, subfamily W,							20.0	22.0	21.0					7																	1026395		2192	4292	6484	SO:0001583	missense	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1026395G>A	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.781G>A	7.37:g.1026395G>A	ENSP00000310149:p.Val261Met					CYP2W1_uc003sjr.1_Missense_Mutation_p.V261M	p.V261M	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	5	794	+		Ovarian(82;0.0112)	261						Missense_Mutation	SNP	ENST00000308919.7	37	c.781G>A	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539427	0.45176	.	.	ENSG00000073067	ENST00000308919;ENST00000340150;ENST00000415893	T;T;T	0.68181	-0.31;-0.31;-0.31	4.05	2.18	0.27775	.	0.624634	0.13894	N	0.355420	T	0.59542	0.2201	N	0.13043	0.29	0.09310	N	1	P;D	0.58620	0.483;0.983	B;P	0.57911	0.153;0.829	T	0.49123	-0.8972	10	0.72032	D	0.01	.	5.9858	0.19434	0.1673:0.2969:0.5359:0.0	.	205;261	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	M	261;205;35	ENSP00000310149:V261M;ENSP00000344178:V205M;ENSP00000392581:V35M	ENSP00000310149:V261M	V	+	1	0	CYP2W1	992921	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.025000	0.13577	0.436000	0.26393	0.561000	0.74099	GTG		0.682	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		7	28	0	0	0	0	7	28				
TRA2A	29896	broad.mit.edu	37	7	23561386	23561386	+	Missense_Mutation	SNP	C	C	T	rs142235949		TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:23561386C>T	ENST00000297071.4	-	2	326	c.110G>A	c.(109-111)cGt>cAt	p.R37H	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	37	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TGATGGACTACGAGATCCTGA	0.413													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18478	0.0		0.0	False		,,,				2504	0.0				Pancreas(121;2137 2973 46590)	uc003swi.2		NA																	0				ovary(1)	1						c.(109-111)CGT>CAT		transformer-2 alpha		C	HIS/ARG	0,4406		0,0,2203	118.0	113.0	115.0		110	5.1	1.0	7	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	no	missense	TRA2A	NM_013293.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	37/283	23561386	2,13004	2203	4300	6503	SO:0001583	missense	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23561386C>T	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.110G>A	7.37:g.23561386C>T	ENSP00000297071:p.Arg37His					TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_5'UTR|TRA2A_uc011jzd.1_5'UTR|TRA2A_uc010kuo.1_RNA	p.R37H	NM_013293	NP_037425	Q13595	TRA2A_HUMAN			2	324	-			37			Arg/Ser-rich (RS1 domain).		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.110G>A	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203031	0.58234	0.0	2.33E-4	ENSG00000164548	ENST00000297071	T	0.29655	1.56	5.95	5.05	0.67936	.	0.107611	0.64402	D	0.000005	T	0.24044	0.0582	L	0.37850	1.14	0.80722	D	1	P	0.49783	0.928	B	0.35813	0.211	T	0.03175	-1.1064	10	0.48119	T	0.1	-7.4444	16.3602	0.83259	0.1331:0.8669:0.0:0.0	.	37	Q13595	TRA2A_HUMAN	H	37	ENSP00000297071:R37H	ENSP00000297071:R37H	R	-	2	0	TRA2A	23527911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.030000	0.49720	1.490000	0.48466	0.585000	0.79938	CGT		0.413	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1	NM_013293		28	44	0	0	0	0	28	44				
PCLO	27445	broad.mit.edu	37	7	82545296	82545296	+	Silent	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:82545296A>G	ENST00000333891.9	-	7	12343	c.12006T>C	c.(12004-12006)ctT>ctC	p.L4002L	PCLO_ENST00000423517.2_Silent_p.L4002L|PCLO_ENST00000437081.1_Silent_p.L722L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTACTACCAAGATGGGAAA	0.398																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(12004-12006)CTT>CTC		piccolo isoform 1							323.0	302.0	309.0					7																	82545296		1908	4132	6040	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545296A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12006T>C	7.37:g.82545296A>G						PCLO_uc003uhv.2_Silent_p.L4002L|PCLO_uc010lec.2_Silent_p.L967L	p.L4002L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	12295	-			3933						Silent	SNP	ENST00000333891.9	37	c.12006T>C	CCDS47630.1																																																																																				0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		141	174	0	0	0	0	141	174				
STEAP2	261729	broad.mit.edu	37	7	89854672	89854672	+	Silent	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:89854672T>C	ENST00000287908.3	+	2	669	c.276T>C	c.(274-276)gcT>gcC	p.A92A	STEAP2_ENST00000394632.1_Silent_p.A92A|STEAP2_ENST00000394626.1_Silent_p.A92A|STEAP2_ENST00000402625.2_Silent_p.A92A|STEAP2_ENST00000394629.2_Silent_p.A92A|STEAP2_ENST00000394622.2_Silent_p.A92A|STEAP2_ENST00000394621.2_Silent_p.A92A	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	92					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TATTTGTTGCTATACACAGAG	0.378																																						uc003ujz.2		NA																	0				ovary(2)	2						c.(274-276)GCT>GCC		six transmembrane epithelial antigen of the							141.0	134.0	136.0					7																	89854672		2203	4300	6503	SO:0001819	synonymous_variant	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89854672T>C	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.276T>C	7.37:g.89854672T>C						STEAP2_uc003ujy.2_Silent_p.A134A|STEAP2_uc010len.2_Silent_p.A92A|STEAP2_uc003uka.2_Silent_p.A92A|STEAP2_uc003ukb.2_Silent_p.A92A|STEAP2_uc003ukc.2_Silent_p.A92A|STEAP2_uc003ukd.2_Silent_p.A92A	p.A92A	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN			2	669	+	all_hematologic(106;0.112)		92					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Silent	SNP	ENST00000287908.3	37	c.276T>C	CCDS5615.1																																																																																				0.378	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		55	59	0	0	0	0	55	59				
CDK14	5218	broad.mit.edu	37	7	90547015	90547015	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:90547015G>T	ENST00000380050.3	+	8	933	c.802G>T	c.(802-804)Ggg>Tgg	p.G268W	CDK14_ENST00000265741.3_Missense_Mutation_p.G250W|CDK14_ENST00000406263.1_Missense_Mutation_p.G222W|CDK14_ENST00000436577.2_Missense_Mutation_p.G139W			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.G250W(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CAGTGACACGGGGGAGTTAAA	0.443																																					GBM(83;1228 1256 8311 16577 31299)	uc003uky.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(802-804)GGG>TGG		PFTAIRE protein kinase 1							118.0	117.0	117.0					7																	90547015		2203	4300	6503	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90547015G>T		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.802G>T	7.37:g.90547015G>T	ENSP00000369390:p.Gly268Trp					CDK14_uc003ukz.1_Missense_Mutation_p.G250W|CDK14_uc010les.1_Missense_Mutation_p.G222W|CDK14_uc011khl.1_Missense_Mutation_p.G139W	p.G268W	NM_012395	NP_036527	O94921	CDK14_HUMAN			8	1024	+			268			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.802G>T		.	.	.	.	.	.	.	.	.	.	G	22.1	4.249024	0.80024	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.51	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057013	0.64402	D	0.000002	T	0.80003	0.4544	H	0.97315	3.98	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.983;1.0;0.965	D	0.87852	0.2658	10	0.87932	D	0	-12.4545	16.1061	0.81223	0.0:0.1342:0.8658:0.0	.	139;250;268	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	W	268;250;222;139	ENSP00000369390:G268W;ENSP00000265741:G250W;ENSP00000385034:G222W;ENSP00000398936:G139W	ENSP00000265741:G250W	G	+	1	0	CDK14	90384951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.286000	0.44565	0.591000	0.81541	GGG		0.443	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		18	95	1	0	2.35e-11	3.15e-11	18	95				
SAMD9L	219285	broad.mit.edu	37	7	92761382	92761382	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:92761382C>T	ENST00000318238.4	-	5	5119	c.3903G>A	c.(3901-3903)agG>agA	p.R1301R	SAMD9L_ENST00000437805.1_Silent_p.R1301R|SAMD9L_ENST00000411955.1_Silent_p.R1301R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1301					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTGTATTTCCTGAAACAAC	0.343																																						uc003umh.1		NA																	0				ovary(4)	4						c.(3901-3903)AGG>AGA		sterile alpha motif domain containing 9-like							80.0	83.0	82.0					7																	92761382		2202	4300	6502	SO:0001819	synonymous_variant	219285							g.chr7:92761382C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.3903G>A	7.37:g.92761382C>T						SAMD9L_uc003umj.1_Silent_p.R1301R|SAMD9L_uc003umi.1_Silent_p.R1301R|SAMD9L_uc010lfb.1_Silent_p.R1301R|SAMD9L_uc003umk.1_Silent_p.R1301R|SAMD9L_uc010lfc.1_Silent_p.R1301R|SAMD9L_uc010lfd.1_Silent_p.R1301R|SAMD9L_uc011khx.1_Intron	p.R1301R	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5119	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1301					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.3903G>A	CCDS34681.1																																																																																				0.343	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		23	51	0	0	0	0	23	51				
ARPC1B	10095	broad.mit.edu	37	7	98984357	98984357	+	Silent	SNP	C	C	T	rs144704984	byFrequency	TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:98984357C>T	ENST00000451682.1	+	5	423	c.114C>T	c.(112-114)agC>agT	p.S38S	ARPC1A_ENST00000432884.2_3'UTR|ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Silent_p.S38S			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	38					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAAAAGAGCGGTGCCAAAT	0.572																																						uc003upz.2		NA																	0					0						c.(112-114)AGC>AGT		actin related protein 2/3 complex subunit 1B		C		1,4405	2.1+/-5.4	0,1,2202	182.0	158.0	166.0		114	-6.5	0.0	7	dbSNP_134	166	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARPC1B	NM_005720.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		38/373	98984357	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10095				cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton	g.chr7:98984357C>T	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.114C>T	7.37:g.98984357C>T						ARPC1A_uc011kit.1_RNA|ARPC1B_uc003uqa.2_Silent_p.S38S|ARPC1B_uc003uqb.2_Silent_p.S38S|ARPC1B_uc003uqc.2_Silent_p.S38S	p.S38S	NM_005720	NP_005711	O15143	ARC1B_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	203	+	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		38			WD 1.		Q9BU00	Silent	SNP	ENST00000451682.1	37	c.114C>T	CCDS5661.1																																																																																				0.572	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335894.1	NM_005720		26	156	0	0	0	0	26	156				
ZNF655	79027	broad.mit.edu	37	7	99170398	99170398	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:99170398C>G	ENST00000394163.2	+	3	850	c.667C>G	c.(667-669)Cag>Gag	p.Q223E	GS1-259H13.10_ENST00000455905.1_Intron|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000424881.1_Missense_Mutation_p.Q258E|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000493277.1_Missense_Mutation_p.Q258E|ZNF655_ENST00000252713.4_Missense_Mutation_p.Q223E	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	223					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AATTTTCCATCAGAGCTCAGC	0.393																																						uc003urh.2		NA																	0				ovary(1)	1						c.(667-669)CAG>GAG		zinc finger protein 655 isoform a							28.0	30.0	29.0					7																	99170398		2187	4293	6480	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170398C>G	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.667C>G	7.37:g.99170398C>G	ENSP00000377718:p.Gln223Glu					ZNF655_uc010lga.2_Missense_Mutation_p.Q258E|ZNF655_uc010lgc.2_Missense_Mutation_p.Q258E|ZNF655_uc003urj.2_Missense_Mutation_p.Q223E|ZNF655_uc003urk.2_Missense_Mutation_p.Q60E|ZNF655_uc010lgd.2_Missense_Mutation_p.Q60E	p.Q223E	NM_138494	NP_612503	Q8N720	ZN655_HUMAN			3	1060	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		223			C2H2-type 1.		A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.667C>G	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241449	0.39598	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.34	3.4	0.38934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000528	T	0.10937	0.0267	M	0.66560	2.04	0.41059	D	0.985368	B;B	0.29136	0.234;0.15	B;B	0.32090	0.14;0.066	T	0.04360	-1.0957	10	0.51188	T	0.08	-14.2954	8.0413	0.30523	0.1592:0.755:0.0:0.0858	.	258;223	Q8N720-3;Q8N720	.;ZN655_HUMAN	E	223;258;258;223	ENSP00000252713:Q223E;ENSP00000419135:Q258E;ENSP00000393876:Q258E;ENSP00000377718:Q223E	ENSP00000252713:Q223E	Q	+	1	0	ZNF655	99008334	0.000000	0.05858	0.996000	0.52242	0.887000	0.51463	-1.131000	0.03238	1.586000	0.49944	0.650000	0.86243	CAG		0.393	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		5	38	0	0	0	0	5	38				
ZAN	7455	broad.mit.edu	37	7	100361512	100361512	+	RNA	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:100361512G>C	ENST00000348028.3	+	0	4235				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTCTGTGGACGGCTGGTCGAC	0.602																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(4069-4071)CGG>CCG		zonadhesin isoform 3							113.0	111.0	112.0					7																	100361512		2032	4191	6223			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100361512G>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100361512G>C						ZAN_uc003uwk.2_Missense_Mutation_p.R1357P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Intron	p.R1357P	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		21	4235	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1357			VWFD 1.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.4070G>C		.	.	.	.	.	.	.	.	.	.	G	15.94	2.981323	0.53827	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.76839	-1.05;-1.05;-1.05	4.34	-1.03	0.10102	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.587019	0.13184	N	0.407287	T	0.75583	0.3869	L	0.45470	1.425	0.38896	D	0.957213	D;D	0.60575	0.985;0.988	P;P	0.58013	0.74;0.831	T	0.70761	-0.4784	10	0.40728	T	0.16	.	3.8443	0.08928	0.3421:0.0:0.4823:0.1756	.	1357;1357	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	1357	ENSP00000445943:R1357P;ENSP00000445091:R1357P;ENSP00000444427:R1357P	ENSP00000423579:R1357P	R	+	2	0	ZAN	100199448	0.000000	0.05858	0.289000	0.24876	0.241000	0.25554	-0.137000	0.10389	-0.339000	0.08401	0.561000	0.74099	CGG		0.602	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		68	79	0	0	0	0	68	79				
CEP41	95681	broad.mit.edu	37	7	130039885	130039885	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:130039885T>C	ENST00000223208.5	-	10	1238	c.968A>G	c.(967-969)cAt>cGt	p.H323R	CEP41_ENST00000541543.1_Intron|CEP41_ENST00000343969.5_Intron	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	323					cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											CTTACTAGGATGATCTGCAGG	0.368																																						uc003vpz.2		NA																	0					0						c.(967-969)CAT>CGT		testis specific, 14							69.0	74.0	73.0					7																	130039885		2203	4300	6503	SO:0001583	missense	95681				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr7:130039885T>C	AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.968A>G	7.37:g.130039885T>C	ENSP00000223208:p.His323Arg					TSGA14_uc003vpy.2_Missense_Mutation_p.H85R|TSGA14_uc010lmf.2_Missense_Mutation_p.H120R|TSGA14_uc003vqa.2_Intron|TSGA14_uc011kpg.1_Intron	p.H323R	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN			10	1015	-	Melanoma(18;0.0435)		323					A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	ENST00000223208.5	37	c.968A>G	CCDS5821.1	.	.	.	.	.	.	.	.	.	.	T	5.117	0.207281	0.09704	.	.	ENSG00000106477	ENST00000223208	D	0.87729	-2.29	5.64	1.97	0.26223	.	0.438079	0.26457	N	0.024279	T	0.71264	0.3319	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60915	-0.7168	10	0.45353	T	0.12	-5.7509	7.8489	0.29442	0.0:0.0828:0.3486:0.5686	.	323	Q9BYV8	CEP41_HUMAN	R	323	ENSP00000223208:H323R	ENSP00000223208:H323R	H	-	2	0	TSGA14	129827121	1.000000	0.71417	0.020000	0.16555	0.164000	0.22412	4.214000	0.58527	0.390000	0.25115	0.533000	0.62120	CAT		0.368	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349702.2	NM_018718		22	100	0	0	0	0	22	100				
EPHB6	2051	broad.mit.edu	37	7	142564288	142564288	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr7:142564288C>T	ENST00000392957.2	+	10	2299	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	EPHB6_ENST00000411471.2_Silent_p.I227I|EPHB6_ENST00000442129.1_Silent_p.I504I	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	504	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCAACAGCATCACGGTGTCCT	0.592																																						uc011kst.1		NA																	0				lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(1510-1512)ATC>ATT		ephrin receptor EphB6 precursor							71.0	70.0	71.0					7																	142564288		2203	4300	6503	SO:0001819	synonymous_variant	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142564288C>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1512C>T	7.37:g.142564288C>T						EPHB6_uc011ksu.1_Silent_p.I504I|EPHB6_uc003wbs.2_Silent_p.I212I|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Silent_p.I212I|EPHB6_uc003wbv.2_5'Flank	p.I504I	NM_004445	NP_004436	O15197	EPHB6_HUMAN			10	2299	+	Melanoma(164;0.059)		504			Fibronectin type-III 2.|Extracellular (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.1512C>T	CCDS5873.2																																																																																				0.592	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			34	46	0	0	0	0	34	46				
TEX15	56154	broad.mit.edu	37	8	30695359	30695359	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:30695359T>G	ENST00000256246.2	-	3	7366	c.7292A>C	c.(7291-7293)aAt>aCt	p.N2431T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2431					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTATTTAAATTTTCCTGTTG	0.358																																						uc003xil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(7291-7293)AAT>ACT		testis expressed 15							190.0	193.0	192.0					8																	30695359		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695359T>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7292A>C	8.37:g.30695359T>G	ENSP00000256246:p.Asn2431Thr						p.N2431T	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7292	-			2431						Missense_Mutation	SNP	ENST00000256246.2	37	c.7292A>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.442009	0.25900	.	.	ENSG00000133863	ENST00000256246	T	0.11930	2.73	4.28	0.482	0.16815	.	0.418357	0.20248	N	0.096142	T	0.11239	0.0274	N	0.24115	0.695	0.09310	N	1	P	0.45957	0.869	P	0.47827	0.558	T	0.13575	-1.0504	10	0.87932	D	0	.	6.7781	0.23630	0.0:0.2904:0.0:0.7096	.	2431	Q9BXT5	TEX15_HUMAN	T	2431	ENSP00000256246:N2431T	ENSP00000256246:N2431T	N	-	2	0	TEX15	30814901	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.129000	0.10515	-0.012000	0.14223	0.379000	0.24179	AAT		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			47	121	0	0	0	0	47	121				
EYA1	2138	broad.mit.edu	37	8	72229804	72229804	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:72229804T>C	ENST00000340726.3	-	7	1178	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	EYA1_ENST00000388743.2_Missense_Mutation_p.Y179C|EYA1_ENST00000388742.4_Missense_Mutation_p.Y180C|EYA1_ENST00000388741.2_Missense_Mutation_p.Y146C|EYA1_ENST00000419131.1_Missense_Mutation_p.Y175C|EYA1_ENST00000303824.7_Missense_Mutation_p.Y174C|EYA1_ENST00000388740.3_Missense_Mutation_p.Y147C	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	180					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGTAGCTGTATGGTGCCTG	0.438																																						uc003xys.3		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(538-540)TAC>TGC		eyes absent 1 isoform b							252.0	234.0	240.0					8																	72229804		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72229804T>C	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.539A>G	8.37:g.72229804T>C	ENSP00000342626:p.Tyr180Cys					EYA1_uc003xyr.3_Missense_Mutation_p.Y175C|EYA1_uc003xyt.3_Missense_Mutation_p.Y147C|EYA1_uc010lzf.2_Missense_Mutation_p.Y107C|EYA1_uc003xyu.2_Missense_Mutation_p.Y180C|EYA1_uc011lfe.1_Missense_Mutation_p.Y174C|EYA1_uc003xyv.2_Missense_Mutation_p.Y58C	p.Y180C	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		6	826	-	Breast(64;0.046)		180					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.539A>G	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424505	0.83667	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	D;D;D;D;D;D;D	0.93366	-2.9;-2.9;-3.21;-2.78;-3.21;-2.9;-2.88	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.96436	0.8837	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.993;0.993;0.999;1.0	D	0.96694	0.9513	10	0.62326	D	0.03	-10.0367	16.1968	0.82036	0.0:0.0:0.0:1.0	.	174;107;147;180;175	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	C	180;180;148;147;174;146;179;175	ENSP00000373394:Y180C;ENSP00000342626:Y180C;ENSP00000373392:Y147C;ENSP00000303221:Y174C;ENSP00000373393:Y146C;ENSP00000373395:Y179C;ENSP00000410176:Y175C	ENSP00000303221:Y174C	Y	-	2	0	EYA1	72392358	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	8.040000	0.89188	2.225000	0.72522	0.533000	0.62120	TAC		0.438	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		45	94	0	0	0	0	45	94				
WWP1	11059	broad.mit.edu	37	8	87454892	87454892	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:87454892A>G	ENST00000517970.1	+	18	2190	c.1883A>G	c.(1882-1884)tAt>tGt	p.Y628C	WWP1_ENST00000341922.2_Missense_Mutation_p.Y498C|WWP1_ENST00000349423.2_Missense_Mutation_p.Y410C|WWP1_ENST00000265428.4_Missense_Mutation_p.Y628C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	628	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AACCCAATGTATTGCTTATTT	0.318																																						uc003ydt.2		NA																	0				lung(1)|liver(1)	2						c.(1882-1884)TAT>TGT		WW domain containing E3 ubiquitin protein ligase							113.0	102.0	106.0					8																	87454892		2203	4300	6503	SO:0001583	missense	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87454892A>G	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1883A>G	8.37:g.87454892A>G	ENSP00000427793:p.Tyr628Cys					WWP1_uc010mai.2_Missense_Mutation_p.Y404C	p.Y628C	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN			18	2163	+			628			HECT.		O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	c.1883A>G	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208477	0.79240	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.4	5.4	0.78164	HECT (4);	0.000000	0.85682	D	0.000000	D	0.83473	0.5262	H	0.95982	3.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.89008	0.3426	10	0.87932	D	0	.	15.4113	0.74923	1.0:0.0:0.0:0.0	.	410;628	Q9H0M0-6;Q9H0M0	.;WWP1_HUMAN	C	628;628;498;410	ENSP00000427793:Y628C;ENSP00000265428:Y628C;ENSP00000340564:Y498C;ENSP00000342665:Y410C	ENSP00000265428:Y628C	Y	+	2	0	WWP1	87524008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.027000	0.59764	0.477000	0.44152	TAT		0.318	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		18	36	0	0	0	0	18	36				
RUNX1T1	862	broad.mit.edu	37	8	92972727	92972727	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:92972727G>T	ENST00000523629.1	-	12	2012	c.1558C>A	c.(1558-1560)Cgt>Agt	p.R520S	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R483S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R493S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R493S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R483S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R483S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R520S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R531S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	520					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTCGCTTTACGGCCACAATTC	0.458																																						uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1558-1560)CGT>AGT		acute myelogenous leukemia 1 translocation 1							58.0	57.0	57.0					8																	92972727		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92972727G>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1558C>A	8.37:g.92972727G>T	ENSP00000428543:p.Arg520Ser					RUNX1T1_uc003yfc.1_Missense_Mutation_p.R493S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R483S|RUNX1T1_uc010mao.2_Missense_Mutation_p.R493S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R531S|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Missense_Mutation_p.R145S|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R483S	p.R520S	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		11	1642	-			520			MYND-type.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1558C>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484146	0.84854	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	6.06	6.06	0.98353	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.46614	1.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.995;0.999;1.0;0.989	T	0.60495	-0.7252	10	0.87932	D	0	-12.6099	20.6208	0.99490	0.0:0.0:1.0:0.0	.	531;483;520;493	E7EPN4;Q7Z4J5;Q06455;Q06455-2	.;.;MTG8_HUMAN;.	S	520;493;520;483;483;483;531;493	ENSP00000428543:R520S;ENSP00000379520:R493S;ENSP00000265814:R520S;ENSP00000353504:R483S;ENSP00000390137:R483S;ENSP00000428742:R483S;ENSP00000402257:R531S;ENSP00000430728:R493S	ENSP00000265814:R520S	R	-	1	0	RUNX1T1	93041903	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.004000	0.88535	2.882000	0.98803	0.655000	0.94253	CGT		0.458	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		22	50	1	0	1.5e-11	2.02e-11	22	50				
KIAA1429	25962	broad.mit.edu	37	8	95531705	95531705	+	Splice_Site	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:95531705C>G	ENST00000297591.5	-	9	2097		c.e9-1		KIAA1429_ENST00000421249.2_Splice_Site|KIAA1429_ENST00000437199.1_Splice_Site	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTGAAGATATCTGTGGAAGAG	0.373																																						uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.e9-1		hypothetical protein LOC25962 isoform 1							90.0	90.0	90.0					8																	95531705		2163	4193	6356	SO:0001630	splice_region_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95531705C>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2022-1G>C	8.37:g.95531705C>G						KIAA1429_uc003ygp.2_Splice_Site_p.R674_splice|KIAA1429_uc010maz.1_Splice_Site	p.R674_splice	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		9	2035	-	Breast(36;3.29e-05)							Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Splice_Site	SNP	ENST00000297591.5	37	c.2022_splice	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301894	0.40694	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5405	0.95272	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1429	95600881	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	6.985000	0.76193	2.695000	0.91970	0.462000	0.41574	.		0.373	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	Intron	10	57	0	0	0	0	10	57				
CSMD3	114788	broad.mit.edu	37	8	113599348	113599348	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:113599348C>G	ENST00000297405.5	-	23	4076	c.3832G>C	c.(3832-3834)Gga>Cga	p.G1278R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1174R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1238R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1278R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1278	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1238*(1)|p.G1278*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATTGATTCCCTTTCCTGCT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3832-3834)GGA>CGA		CUB and Sushi multiple domains 3 isoform 1							138.0	125.0	129.0					8																	113599348		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113599348C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3832G>C	8.37:g.113599348C>G	ENSP00000297405:p.Gly1278Arg	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G550R|CSMD3_uc003ynt.2_Missense_Mutation_p.G1238R|CSMD3_uc011lhx.1_Missense_Mutation_p.G1174R	p.G1278R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			23	3991	-			1278			Extracellular (Potential).|CUB 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3832G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556879	0.65425	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	4.08	4.08	0.47627	CUB (5);	0.000000	0.64402	D	0.000001	T	0.23210	0.0561	N	0.13168	0.305	0.47308	D	0.999386	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.10268	-1.0637	10	0.13853	T	0.58	.	16.8147	0.85730	0.0:1.0:0.0:0.0	.	1174;1278;1238	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	1238;1278;618;1174;1278	ENSP00000345799:G1238R;ENSP00000297405:G1278R;ENSP00000341558:G618R;ENSP00000412263:G1174R;ENSP00000343124:G1278R	ENSP00000297405:G1278R	G	-	1	0	CSMD3	113668524	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.585000	0.82584	2.267000	0.75376	0.591000	0.81541	GGA		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		24	46	0	0	0	0	24	46				
SCRIB	23513	broad.mit.edu	37	8	144891191	144891191	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr8:144891191G>A	ENST00000320476.3	-	15	1709	c.1703C>T	c.(1702-1704)aCg>aTg	p.T568M	SCRIB_ENST00000356994.2_Missense_Mutation_p.T568M|SCRIB_ENST00000377533.3_Missense_Mutation_p.T487M	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	568	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAAATGCACCGTGGGCTGTGC	0.657																																					Pancreas(51;966 1133 10533 14576 29674)	uc003yzp.1		NA																	0				urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5						c.(1702-1704)ACG>ATG		scribble isoform b							38.0	38.0	38.0					8																	144891191		2202	4300	6502	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144891191G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1703C>T	8.37:g.144891191G>A	ENSP00000322938:p.Thr568Met					SCRIB_uc003yzo.1_Missense_Mutation_p.T568M	p.T568M	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		15	1710	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		568			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1703C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	15.69	2.906607	0.52333	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.75367	-0.93;-0.93;-0.93	4.79	4.79	0.61399	.	.	.	.	.	D	0.84433	0.5471	M	0.68593	2.085	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.83779	0.0224	9	0.36615	T	0.2	.	16.8367	0.85958	0.0:0.0:1.0:0.0	.	568;568	Q14160;Q14160-3	SCRIB_HUMAN;.	M	568;568;487	ENSP00000349486:T568M;ENSP00000322938:T568M;ENSP00000366756:T487M	ENSP00000322938:T568M	T	-	2	0	SCRIB	144963179	1.000000	0.71417	0.998000	0.56505	0.002000	0.02628	7.012000	0.76366	2.225000	0.72522	0.401000	0.26515	ACG		0.657	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		18	70	0	0	0	0	18	70				
RORB	6096	broad.mit.edu	37	9	77286707	77286707	+	Silent	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:77286707C>A	ENST00000396204.2	+	9	1147	c.1147C>A	c.(1147-1149)Cga>Aga	p.R383R	RORB_ENST00000376896.3_Silent_p.R372R			Q92753	RORB_HUMAN	RAR-related orphan receptor B	383	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	TTCATCAGACCGAGCCTGGCT	0.403																																						uc004aji.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1147-1149)CGA>AGA		RAR-related orphan receptor B							71.0	66.0	68.0					9																	77286707		2203	4300	6503	SO:0001819	synonymous_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77286707C>A	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1147C>A	9.37:g.77286707C>A						RORB_uc004ajh.2_Silent_p.R372R	p.R383R	NM_006914	NP_008845	Q92753	RORB_HUMAN			9	1196	+			383			Ligand-binding (Potential).		Q8WX73	Silent	SNP	ENST00000396204.2	37	c.1147C>A																																																																																					0.403	RORB-201	KNOWN	basic	protein_coding	protein_coding				23	19	1	0	3.01e-09	3.94e-09	23	19				
VPS13A	23230	broad.mit.edu	37	9	79917956	79917956	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:79917956A>G	ENST00000360280.3	+	34	4198	c.3938A>G	c.(3937-3939)aAt>aGt	p.N1313S	VPS13A_ENST00000376634.4_Missense_Mutation_p.N1313S|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.N1313S|VPS13A_ENST00000376636.3_Missense_Mutation_p.N1274S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1313					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAATGTAAATGCTCAGCTG	0.378																																						uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(3937-3939)AAT>AGT		vacuolar protein sorting 13A isoform A							140.0	135.0	137.0					9																	79917956		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79917956A>G	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3938A>G	9.37:g.79917956A>G	ENSP00000353422:p.Asn1313Ser					VPS13A_uc004akp.3_Missense_Mutation_p.N1313S|VPS13A_uc004akq.3_Missense_Mutation_p.N1313S|VPS13A_uc004aks.2_Missense_Mutation_p.N1274S|VPS13A_uc010mpo.1_5'UTR	p.N1313S	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			34	4198	+			1313			TPR 5.		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.3938A>G	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	A	3.116	-0.181653	0.06340	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.31	4.09	0.47781	.	0.296481	0.33272	N	0.005094	T	0.05686	0.0149	N	0.10916	0.065	0.80722	D	1	B;B;B;B	0.11235	0.001;0.004;0.002;0.002	B;B;B;B	0.12837	0.007;0.008;0.008;0.008	T	0.28776	-1.0033	10	0.09084	T	0.74	.	6.2118	0.20633	0.5994:0.2694:0.0:0.1312	.	1274;1313;1313;1313	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	S	1313;1274;1313;1313	ENSP00000365821:N1313S;ENSP00000365823:N1274S;ENSP00000353422:N1313S;ENSP00000349985:N1313S	ENSP00000349985:N1313S	N	+	2	0	VPS13A	79107776	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.978000	0.29488	2.007000	0.58848	0.460000	0.39030	AAT		0.378	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		76	37	0	0	0	0	76	37				
HDHD3	81932	broad.mit.edu	37	9	116136605	116136605	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:116136605C>T	ENST00000238379.5	-	2	927	c.30G>A	c.(28-30)ctG>ctA	p.L10L	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Silent_p.L10L	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	10						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						CATCCCACGTCAGCAGTCGTA	0.657																																						uc004bhi.1		NA																	0					0						c.(28-30)CTG>CTA		haloacid dehalogenase-like hydrolase domain							43.0	31.0	35.0					9																	116136605		2203	4300	6503	SO:0001819	synonymous_variant	81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136605C>T	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.30G>A	9.37:g.116136605C>T						HDHD3_uc004bhj.2_Silent_p.L10L|HDHD3_uc004bhk.2_Silent_p.L10L	p.L10L	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN			2	814	-			10					B2RD47	Silent	SNP	ENST00000238379.5	37	c.30G>A	CCDS6793.1																																																																																				0.657	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		7	40	0	0	0	0	7	40				
COL27A1	85301	broad.mit.edu	37	9	117044557	117044557	+	Splice_Site	SNP	G	G	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:117044557G>C	ENST00000356083.3	+	38	4109	c.3718G>C	c.(3718-3720)Ggt>Cgt	p.G1240R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1240	Collagen-like 10.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCTCTTCAGGGTCCTGAAGG	0.582																																						uc011lxl.1		NA																	0				ovary(3)|skin(1)	4						c.(3718-3720)GGT>CGT		collagen, type XXVII, alpha 1 precursor							95.0	99.0	97.0					9																	117044557		2203	4300	6503	SO:0001630	splice_region_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117044557G>C	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3718-1G>C	9.37:g.117044557G>C						COL27A1_uc004bii.2_RNA	p.G1240R	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			38	3718	+			1240			Collagen-like 10.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3718G>C	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036824	0.35893	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.99353	-5.77	4.75	4.75	0.60458	.	.	.	.	.	D	0.99603	0.9856	H	0.96430	3.82	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97692	1.0179	8	.	.	.	.	15.6094	0.76704	0.0:0.0:1.0:0.0	.	1240	Q8IZC6	CORA1_HUMAN	R	1240	ENSP00000348385:G1240R	.	G	+	1	0	COL27A1	116084378	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	6.629000	0.74267	2.345000	0.79718	0.655000	0.94253	GGT		0.582	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888	Missense_Mutation	70	40	0	0	0	0	70	40				
TRIM32	22954	broad.mit.edu	37	9	119461761	119461761	+	Silent	SNP	C	C	T			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:119461761C>T	ENST00000450136.1	+	2	1901	c.1740C>T	c.(1738-1740)ggC>ggT	p.G580G	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.G580G|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	580					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCATTGCTGGCATGTGTGTGG	0.527																																					Esophageal Squamous(92;212 1916 19711 26951)	uc004bjx.2		NA																	0				central_nervous_system(2)|kidney(1)	3						c.(1738-1740)GGC>GGT		tripartite motif-containing 32							115.0	108.0	110.0					9																	119461761		2203	4300	6503	SO:0001819	synonymous_variant	22954	Bardet-Biedl_syndrome			fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461761C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1740C>T	9.37:g.119461761C>T						ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.G580G	p.G580G	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN			2	1898	+			580			NHL 4.		Q9NQP8	Silent	SNP	ENST00000450136.1	37	c.1740C>T	CCDS6817.1																																																																																				0.527	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		52	28	0	0	0	0	52	28				
PIP5KL1	138429	broad.mit.edu	37	9	130684360	130684360	+	Silent	SNP	C	C	G			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:130684360C>G	ENST00000388747.4	-	10	995	c.951G>C	c.(949-951)tcG>tcC	p.S317S	PIP5KL1_ENST00000300432.3_Silent_p.S114S	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	317	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TTTGGGCTCTCGACTCTTCCG	0.677																																						uc011mao.1		NA																	0				lung(1)|kidney(1)	2						c.(949-951)TCG>TCC		phosphatidylinositol-4-phosphate 5-kinase-like 1							14.0	17.0	16.0					9																	130684360		2157	4252	6409	SO:0001819	synonymous_variant	138429					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr9:130684360C>G	BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.951G>C	9.37:g.130684360C>G						PIP5KL1_uc004bsu.2_Silent_p.S114S	p.S317S	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN			10	996	-			317			PIPK.		Q8IVS3	Silent	SNP	ENST00000388747.4	37	c.951G>C	CCDS48030.1																																																																																				0.677	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054289.2	NM_173492		2	7	0	0	0	0	2	7				
TUBB4B	10383	broad.mit.edu	37	9	140137606	140137606	+	Silent	SNP	G	G	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr9:140137606G>A	ENST00000340384.4	+	4	1084	c.936G>A	c.(934-936)acG>acA	p.T312T		NM_006088.5	NP_006079.1	P68371	TBB4B_HUMAN	tubulin, beta 4B class IVb	312					'de novo' posttranslational protein folding (GO:0051084)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|unfolded protein binding (GO:0051082)									Albendazole(DB00518)|Mebendazole(DB00643)	GCTACCTGACGGTTGCCGCCG	0.567																																						uc004cmh.1		NA																	0				ovary(1)	1						c.(934-936)ACG>ACA		tubulin, beta, 2							42.0	47.0	45.0					9																	140137606		2201	4295	6496	SO:0001819	synonymous_variant	10383				'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding	g.chr9:140137606G>A	BC019359	CCDS7039.1	9q34.3	2011-10-10	2011-10-10	2011-10-10	ENSG00000188229	ENSG00000188229		"""Tubulins"""	20771	protein-coding gene	gene with protein product	"""class IVb beta-tubulin"""	602660	"""tubulin, beta 2C"""	TUBB2C		3999141	Standard	NM_006088		Approved	Beta2	uc004cmh.1	P68371	OTTHUMG00000131783	ENST00000340384.4:c.936G>A	9.37:g.140137606G>A						TUBB2C_uc004cmg.1_Silent_p.T166T	p.T312T	NM_006088	NP_006079	P68371	TBB2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	4	1038	+	all_cancers(76;0.0926)		312					A2BFA2|P05217	Silent	SNP	ENST00000340384.4	37	c.936G>A	CCDS7039.1																																																																																				0.567	TUBB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254715.1	NM_006088		4	116	0	0	0	0	4	116				
FAM47A	158724	broad.mit.edu	37	X	34148619	34148619	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chrX:34148619C>A	ENST00000346193.3	-	1	1828	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	593										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAAACGCACTCTTTTGTGCTT	0.468																																						uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1777-1779)GAG>TAG		hypothetical protein LOC158724							101.0	91.0	95.0					X																	34148619		2153	4255	6408	SO:0001587	stop_gained	158724							g.chrX:34148619C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1777G>T	X.37:g.34148619C>A	ENSP00000345029:p.Glu593*						p.E593*	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1810	-			593					A8K8I9|Q8TAA0	Nonsense_Mutation	SNP	ENST00000346193.3	37	c.1777G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	16.60	3.169034	0.57584	.	.	ENSG00000185448	ENST00000346193	.	.	.	1.48	0.589	0.17452	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	3.7752	0.08657	0.0:0.7435:0.0:0.2565	.	.	.	.	X	593	.	ENSP00000345029:E593X	E	-	1	0	FAM47A	34058540	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.007000	0.12810	0.134000	0.18681	-0.275000	0.10095	GAG		0.468	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		15	17	1	0	1.36e-06	1.72e-06	15	17				
NKRF	55922	broad.mit.edu	37	X	118723979	118723979	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chrX:118723979T>C	ENST00000371527.1	-	2	2061	c.1409A>G	c.(1408-1410)tAt>tGt	p.Y470C	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.Y485C|NKRF_ENST00000304449.5_Missense_Mutation_p.Y470C	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	470					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CATCCTTTCATAGACATACTC	0.408																																						uc004erq.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1408-1410)TAT>TGT		transcription factor NRF							101.0	98.0	99.0					X																	118723979		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118723979T>C	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1409A>G	X.37:g.118723979T>C	ENSP00000360582:p.Tyr470Cys					NKRF_uc004err.2_Missense_Mutation_p.Y470C	p.Y470C	NM_017544	NP_060014	O15226	NKRF_HUMAN			2	2062	-			470					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.1409A>G	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	13.36	2.214452	0.39102	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.76448	-1.02;-1.02;-1.02	5.49	2.88	0.33553	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.098090	0.64402	D	0.000001	T	0.69744	0.3145	L	0.34521	1.04	0.41032	D	0.985161	P	0.50156	0.932	P	0.46718	0.525	T	0.69873	-0.5027	10	0.72032	D	0.01	-7.1292	8.4069	0.32621	0.619:0.0:0.0:0.381	.	470	O15226	NKRF_HUMAN	C	470;470;485	ENSP00000360582:Y470C;ENSP00000304803:Y470C;ENSP00000442308:Y485C	ENSP00000304803:Y470C	Y	-	2	0	NKRF	118608007	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.352000	0.59404	0.684000	0.31448	0.486000	0.48141	TAT		0.408	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		3	81	0	0	0	0	3	81				
CCDC15	80071	broad.mit.edu	37	11	124908334	124908334	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr11:124908334delA	ENST00000344762.5	+	14	2678	c.2419delA	c.(2419-2421)aaafs	p.K808fs	CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000529051.1_Frame_Shift_Del_p.K808fs	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	808						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CAGAATTAAGAAAAAGAGAGA	0.313																																						uc001qbm.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2419-2421)AAAfs		coiled-coil domain containing 15							28.0	25.0	26.0					11																	124908334		1791	4057	5848	SO:0001589	frameshift_variant	80071					centrosome		g.chr11:124908334delA	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2419delA	11.37:g.124908334delA	ENSP00000341684:p.Lys808fs						p.K807fs	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	14	2678	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	807			Potential.		Q9H8U7	Frame_Shift_Del	DEL	ENST00000344762.5	37	c.2419delA	CCDS44756.1																																																																																				0.313	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		2	4	NA	NA	NA	NA	2	4	---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17088187	17088189	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr19:17088187_17088189delGAA	ENST00000443236.1	-	15	1919_1921	c.1888_1890delTTC	c.(1888-1890)ttcdel	p.F630del	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	583						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGGTTTTCGAAGAAGGTCTCG	0.611																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(1888-1890)TTCdel		C3 and PZP-like, alpha-2-macroglobulin domain																																				SO:0001651	inframe_deletion	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17088187_17088189delGAA	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1888_1890delTTC	19.37:g.17088190_17088192delGAA	ENSP00000402505:p.Phe630del						p.F630del	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			15	1920_1922	-			583					Q8NC09|Q9ULD7	In_Frame_Del	DEL	ENST00000443236.1	37	c.1888_1890delTTC	CCDS42519.1																																																																																				0.611	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		21	112	NA	NA	NA	NA	21	112	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100209981	100209984	+	Frame_Shift_Del	DEL	GTTG	GTTG	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr2:100209981_100209984delGTTG	ENST00000409236.2	-	13	2251_2254	c.2139_2142delCAAC	c.(2137-2142)gccaacfs	p.AN713fs	AFF3_ENST00000356421.2_Frame_Shift_Del_p.AN738fs|AFF3_ENST00000409579.1_Frame_Shift_Del_p.AN738fs|AFF3_ENST00000317233.4_Frame_Shift_Del_p.AN713fs			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	713					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CACTGCCCCCGTTGGCAGCGGCCT	0.627																																						uc002tag.2		NA																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(2137-2142)GCCAACfs		AF4/FMR2 family, member 3 isoform 1																																				SO:0001589	frameshift_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100209981_100209984delGTTG	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2139_2142delCAAC	2.37:g.100209981_100209984delGTTG	ENSP00000387207:p.Ala713fs					AFF3_uc002taf.2_Frame_Shift_Del_p.A738fs|AFF3_uc010fiq.1_Frame_Shift_Del_p.A713fs|AFF3_uc010yvr.1_Frame_Shift_Del_p.A866fs|AFF3_uc002tah.1_Frame_Shift_Del_p.A738fs	p.A713fs	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	2375_2378	-			713_714					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Frame_Shift_Del	DEL	ENST00000409236.2	37	c.2139_2142delCAAC	CCDS42723.1																																																																																				0.627	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		37	42	NA	NA	NA	NA	37	42	---	---	---	---
TGFBI	7045	broad.mit.edu	37	5	135388800	135388801	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chr5:135388800_135388801delCA	ENST00000442011.2	+	8	1279_1280	c.1118_1119delCA	c.(1117-1119)ccafs	p.P373fs	TGFBI_ENST00000305126.8_Frame_Shift_Del_p.P373fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	373					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTACTCATCCCAGACTCAGGTA	0.569																																						uc003lbf.3		NA																	0				breast(3)|ovary(1)	4						c.(1117-1119)CCAfs		transforming growth factor, beta-induced, 68kDa																																				SO:0001589	frameshift_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135388800_135388801delCA	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1118_1119delCA	5.37:g.135388800_135388801delCA	ENSP00000416330:p.Pro373fs					TGFBI_uc003lbg.3_Frame_Shift_Del_p.P106fs|TGFBI_uc003lbh.3_Frame_Shift_Del_p.P199fs|TGFBI_uc011cyb.1_Frame_Shift_Del_p.P199fs|TGFBI_uc010jed.2_Frame_Shift_Del_p.P106fs	p.P373fs	NM_000358	NP_000349	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		8	1279_1280	+			373					D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Frame_Shift_Del	DEL	ENST00000442011.2	37	c.1118_1119delCA	CCDS47266.1																																																																																				0.569	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			11	37	NA	NA	NA	NA	11	37	---	---	---	---
CXorf57	55086	broad.mit.edu	37	X	105868408	105868408	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7235-01A-11D-2012-08	TCGA-CV-7235-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1758147b-cb09-430b-a8cb-6a144744a79f	42d49395-457d-4661-a6ce-ec6f888b7570	g.chrX:105868408delT	ENST00000372548.4	+	3	984	c.875delT	c.(874-876)gttfs	p.V292fs	CXorf57_ENST00000372544.2_Frame_Shift_Del_p.V292fs	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	292							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTTTGCGGGTTGGTTTAGTT	0.408																																						uc004emi.3		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(874-876)GTTfs		hypothetical protein LOC55086							198.0	165.0	176.0					X																	105868408		2203	4300	6503	SO:0001589	frameshift_variant	55086							g.chrX:105868408delT	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.875delT	X.37:g.105868408delT	ENSP00000361628:p.Val292fs					CXorf57_uc004emj.3_Frame_Shift_Del_p.V292fs|CXorf57_uc004emh.2_Frame_Shift_Del_p.V292fs	p.V292fs	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			3	1026	+			292					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Frame_Shift_Del	DEL	ENST00000372548.4	37	c.875delT	CCDS14519.1																																																																																				0.408	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		47	41	NA	NA	NA	NA	47	41	---	---	---	---
