#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
CELA3B	23436	broad.mit.edu	37	1	22313089	22313089	+	Silent	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:22313089C>G	ENST00000337107.6	+	7	727	c.708C>G	c.(706-708)acC>acG	p.T236T	CELA3B_ENST00000473526.1_3'UTR|RNU6-1022P_ENST00000365049.1_RNA|RN7SL386P_ENST00000485776.2_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	236	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ATGGCGTGACCAGCTTTGTTT	0.607																																						uc001bfk.2		NA																	0				ovary(1)	1						c.(706-708)ACC>ACG		elastase 3B, pancreatic preproprotein							86.0	76.0	79.0					1																	22313089		2203	4300	6503	SO:0001819	synonymous_variant	23436				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:22313089C>G	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.708C>G	1.37:g.22313089C>G						CELA3B_uc009vqf.2_Intron	p.T236T	NM_007352	NP_031378	P08861	CEL3B_HUMAN			7	823	+			236			Peptidase S1.		B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Silent	SNP	ENST00000337107.6	37	c.708C>G	CCDS219.1																																																																																				0.607	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1	NM_007352		11	30	0	0	0	0	11	30				
LUZP1	7798	broad.mit.edu	37	1	23419483	23419483	+	Silent	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:23419483G>T	ENST00000302291.4	-	4	2073	c.1272C>A	c.(1270-1272)ccC>ccA	p.P424P	LUZP1_ENST00000418342.1_Silent_p.P424P|LUZP1_ENST00000374623.3_Silent_p.P424P|LUZP1_ENST00000314174.5_Silent_p.P424P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	424					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TGGTGAAACTGGGAGAAGAAA	0.507																																						uc001bgk.2		NA																	0					0						c.(1270-1272)CCC>CCA		leucine zipper protein 1							198.0	204.0	202.0					1																	23419483		2203	4300	6503	SO:0001819	synonymous_variant	7798					nucleus		g.chr1:23419483G>T	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1272C>A	1.37:g.23419483G>T						LUZP1_uc010odv.1_Silent_p.P424P|LUZP1_uc001bgl.2_Silent_p.P424P|LUZP1_uc001bgm.1_Silent_p.P424P	p.P424P	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	1656	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	424					Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.1272C>A	CCDS30628.1																																																																																				0.507	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		6	177	1	0	0.00198382	0.00967502	6	177				
IGSF3	3321	broad.mit.edu	37	1	117131576	117131576	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:117131576C>G	ENST00000369486.3	-	8	2945	c.2180G>C	c.(2179-2181)gGc>gCc	p.G727A	IGSF3_ENST00000369483.1_Missense_Mutation_p.G747A|IGSF3_ENST00000318837.6_Missense_Mutation_p.G747A	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	727	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GATAAGCTTGCCATCGGCATC	0.547																																						uc001egr.1		NA																	0				ovary(2)	2						c.(2179-2181)GGC>GCC		immunoglobulin superfamily, member 3 isoform 2							140.0	123.0	129.0					1																	117131576		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117131576C>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2180G>C	1.37:g.117131576C>G	ENSP00000358498:p.Gly727Ala					IGSF3_uc001egq.1_Missense_Mutation_p.G747A|IGSF3_uc001egs.1_Missense_Mutation_p.G400A	p.G727A	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	8	2885	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	727			Ig-like C2-type 6.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.2180G>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	C	9.583	1.124070	0.20959	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.20881	2.04;2.04;2.04	4.31	4.31	0.51392	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.459428	0.20654	N	0.088159	T	0.22085	0.0532	L	0.34521	1.04	0.44798	D	0.997808	P;D;P	0.71674	0.51;0.998;0.566	B;D;B	0.68483	0.228;0.958;0.338	T	0.01591	-1.1317	10	0.30854	T	0.27	-41.3795	14.3103	0.66413	0.0:1.0:0.0:0.0	.	747;727;747	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	A	727;747;747	ENSP00000358498:G727A;ENSP00000358495:G747A;ENSP00000321184:G747A	ENSP00000321184:G747A	G	-	2	0	IGSF3	116933099	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	3.246000	0.51414	2.226000	0.72624	0.462000	0.41574	GGC		0.547	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		29	98	0	0	0	0	29	98				
BCL9	607	broad.mit.edu	37	1	147092754	147092754	+	Silent	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:147092754T>A	ENST00000234739.3	+	8	3533	c.2793T>A	c.(2791-2793)ccT>ccA	p.P931P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	931	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCCCGTCACCTGGATGGACCT	0.582			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(2791-2793)CCT>CCA		B-cell CLL/lymphoma 9							105.0	103.0	103.0					1																	147092754		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092754T>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2793T>A	1.37:g.147092754T>A						BCL9_uc010ozr.1_Silent_p.P857P	p.P931P	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	3533	+	all_hematologic(923;0.115)		931			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.2793T>A	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		17	114	0	0	0	0	17	114				
NBPF15	284565	broad.mit.edu	37	1	148594624	148594624	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:148594624T>C	ENST00000369187.3	+	19	2486	c.1997T>C	c.(1996-1998)gTc>gCc	p.V666A	NBPF15_ENST00000442702.2_Missense_Mutation_p.V666A	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	666	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CAGATGGGAGTCATATTCCCA	0.448																																						uc001esc.2		NA																	0					0						c.(1996-1998)GTC>GCC		hypothetical protein LOC284565							24.0	30.0	28.0					1																	148594624		1914	4139	6053	SO:0001583	missense	284565					cytoplasm		g.chr1:148594624T>C	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1997T>C	1.37:g.148594624T>C	ENSP00000358188:p.Val666Ala						p.V666A	NM_173638	NP_775909	Q8N660	NBPFF_HUMAN			19	2486	+	all_hematologic(923;0.032)		666			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1997T>C	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	10.80	1.451309	0.26074	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.03982	3.74;3.74	0.502	-0.966	0.10320	DUF1220 (1);	.	.	.	.	T	0.05181	0.0138	L	0.59436	1.845	0.09310	N	1	P	0.43392	0.805	P	0.59424	0.857	T	0.28073	-1.0055	8	0.87932	D	0	.	.	.	.	.	666	Q8N660	NBPFF_HUMAN	A	666	ENSP00000416864:V666A;ENSP00000358188:V666A	ENSP00000358188:V666A	V	+	2	0	NBPF15	146861248	0.006000	0.16342	0.004000	0.12327	0.014000	0.08584	-0.302000	0.08221	-0.355000	0.08199	0.310000	0.20435	GTC		0.448	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		3	132	0	0	0	0	3	132				
BCAN	63827	broad.mit.edu	37	1	156616600	156616600	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:156616600C>T	ENST00000329117.5	+	3	435	c.99C>T	c.(97-99)cgC>cgT	p.R33R	RP11-284F21.10_ENST00000605886.1_RNA|BCAN_ENST00000361588.5_Silent_p.R33R|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	33					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGAGGACCGCGCTTTTCGCG	0.697																																						uc001fpp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(97-99)CGC>CGT		brevican isoform 1							16.0	18.0	17.0					1																	156616600		2170	4211	6381	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156616600C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.99C>T	1.37:g.156616600C>T						BCAN_uc001fpo.2_Silent_p.R33R	p.R33R	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN			3	435	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		33					D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.99C>T	CCDS1149.1																																																																																				0.697	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		5	20	0	0	0	0	5	20				
NES	10763	broad.mit.edu	37	1	156640375	156640375	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:156640375G>A	ENST00000368223.3	-	4	3737	c.3605C>T	c.(3604-3606)cCt>cTt	p.P1202L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1202	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGAGGCCAAGGTGAAGGGGC	0.647																																						uc001fpq.2		NA																	0				ovary(6)	6						c.(3604-3606)CCT>CTT		nestin							79.0	78.0	79.0					1																	156640375		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640375G>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3605C>T	1.37:g.156640375G>A	ENSP00000357206:p.Pro1202Leu						p.P1202L	NM_006617	NP_006608	P48681	NEST_HUMAN			4	3738	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1202			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3605C>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025882	0.35701	.	.	ENSG00000132688	ENST00000368223	D	0.89415	-2.51	4.51	2.55	0.30701	.	0.838313	0.09756	N	0.759912	T	0.75280	0.3828	M	0.63843	1.955	0.09310	N	1	P	0.37781	0.608	B	0.30401	0.115	T	0.68934	-0.5278	10	0.87932	D	0	.	6.2899	0.21054	0.1563:0.1729:0.6707:0.0	.	1202	P48681	NEST_HUMAN	L	1202	ENSP00000357206:P1202L	ENSP00000357206:P1202L	P	-	2	0	NES	154906999	0.002000	0.14202	0.003000	0.11579	0.019000	0.09904	1.182000	0.32029	0.983000	0.38602	0.455000	0.32223	CCT		0.647	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		5	104	0	0	0	0	5	104				
FCRL1	115350	broad.mit.edu	37	1	157776893	157776893	+	Splice_Site	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:157776893G>A	ENST00000368176.3	-	2	118	c.51C>T	c.(49-51)gcC>gcT	p.A17A	FCRL1_ENST00000358292.3_Splice_Site_p.A17A|FCRL1_ENST00000489998.1_5'Flank|FCRL1_ENST00000491942.1_Splice_Site_p.A17A	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	17	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAACTCACCGGCAGGTTCAC	0.483																																					GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	0				skin(4)|ovary(3)	7						c.(49-51)GCC>GCT		Fc receptor-like 1 isoform 1 precursor							73.0	70.0	71.0					1																	157776893		2203	4300	6503	SO:0001630	splice_region_variant	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157776893G>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.52+1C>T	1.37:g.157776893G>A						FCRL1_uc001frh.2_Silent_p.A17A|FCRL1_uc001fri.2_Silent_p.A17A|FCRL1_uc001frj.2_RNA	p.A17A	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		2	164	-	all_hematologic(112;0.0378)		17			Extracellular (Potential).|Ig-like C2-type 1.		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	ENST00000368176.3	37	c.51C>T	CCDS1170.1																																																																																				0.483	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938	Silent	15	73	0	0	0	0	15	73				
CD1C	911	broad.mit.edu	37	1	158262428	158262428	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:158262428C>T	ENST00000368170.3	+	4	932	c.653C>T	c.(652-654)tCt>tTt	p.S218F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	218	Ig-like.				antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGCCTTGGGTCTGGCCAGCTG	0.522																																						uc001fru.2		NA																	0				ovary(2)|skin(1)|pancreas(1)	4						c.(652-654)TCT>TTT		CD1C antigen precursor							65.0	66.0	65.0					1																	158262428		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262428C>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.653C>T	1.37:g.158262428C>T	ENSP00000357152:p.Ser218Phe					CD1C_uc001frv.2_Missense_Mutation_p.S21F	p.S218F	NM_001765	NP_001756	P29017	CD1C_HUMAN			4	945	+	all_hematologic(112;0.0378)		218			Extracellular (Potential).|Ig-like.		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.653C>T	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	11.14	1.552319	0.27739	.	.	ENSG00000158481	ENST00000368169;ENST00000368170;ENST00000454192	T	0.15487	2.42	3.82	2.9	0.33743	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (1);	1.114660	0.07001	N	0.823413	T	0.21347	0.0514	M	0.81942	2.565	0.09310	N	1	P;B	0.51240	0.943;0.254	P;B	0.55055	0.767;0.216	T	0.14117	-1.0484	10	0.87932	D	0	.	7.2067	0.25911	0.0:0.8763:0.0:0.1237	.	218;218	E9PGC9;P29017	.;CD1C_HUMAN	F	218;218;21	ENSP00000357152:S218F	ENSP00000357151:S218F	S	+	2	0	CD1C	156529052	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.031000	0.12287	0.956000	0.37904	0.650000	0.86243	TCT		0.522	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		6	66	0	0	0	0	6	66				
OR10J1	26476	broad.mit.edu	37	1	159409809	159409809	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:159409809C>T	ENST00000423932.3	+	1	298	c.261C>T	c.(259-261)gtC>gtT	p.V87V	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	87					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATACATTGGTCATTCTCCCAA	0.458																																						uc010piv.1		NA																	0				ovary(1)	1						c.(259-261)GTC>GTT		olfactory receptor, family 10, subfamily J,							119.0	107.0	111.0					1																	159409809		2203	4300	6503	SO:0001819	synonymous_variant	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409809C>T	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.261C>T	1.37:g.159409809C>T						uc001fts.3_Intron	p.V87V	NM_012351	NP_036483	P30954	O10J1_HUMAN			1	261	+	all_hematologic(112;0.0429)		87			Extracellular (Potential).		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	ENST00000423932.3	37	c.261C>T	CCDS1185.1																																																																																				0.458	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		7	77	0	0	0	0	7	77				
CRB1	23418	broad.mit.edu	37	1	197390386	197390386	+	Silent	SNP	C	C	T	rs62636282	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:197390386C>T	ENST00000367400.3	+	6	1563	c.1428C>T	c.(1426-1428)acC>acT	p.T476T	CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_Silent_p.T175T|CRB1_ENST00000367399.2_Silent_p.T364T|CRB1_ENST00000538660.1_Silent_p.T476T|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.T407T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	476	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGGCTACACCGGGTCCCTGT	0.502													C|||	3	0.000599042	0.0	0.0	5008	,	,		20119	0.0		0.002	False		,,,				2504	0.001					uc001gtz.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(1426-1428)ACC>ACT		crumbs homolog 1 precursor		C	,	1,4405	2.1+/-5.4	0,1,2202	101.0	86.0	91.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1092,1428	-12.0	0.0	1	dbSNP_129	91	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	CRB1	NM_001193640.1,NM_201253.2	,	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	,	364/1295,476/1407	197390386	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390386C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1428C>T	1.37:g.197390386C>T						CRB1_uc010poz.1_Silent_p.T407T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.T364T|CRB1_uc010ppb.1_Silent_p.T476T|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Silent_p.T125T	p.T476T	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1563	+			476			Extracellular (Potential).|EGF-like 11.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1428C>T	CCDS1390.1																																																																																				0.502	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		12	57	0	0	0	0	12	57				
RPS6KC1	26750	broad.mit.edu	37	1	213436131	213436131	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:213436131C>G	ENST00000366960.3	+	14	3212	c.3062C>G	c.(3061-3063)tCt>tGt	p.S1021C	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S1009C|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.S809C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	1021	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GAATGTGTCTCTGAAGAGGCT	0.428																																						uc010ptr.1		NA																	0				lung(4)|ovary(3)|breast(1)	8						c.(3061-3063)TCT>TGT		ribosomal protein S6 kinase, 52kDa, polypeptide							136.0	133.0	134.0					1																	213436131		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213436131C>G	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.3062C>G	1.37:g.213436131C>G	ENSP00000355927:p.Ser1021Cys					RPS6KC1_uc001hkd.2_Missense_Mutation_p.S1009C|RPS6KC1_uc010pts.1_Missense_Mutation_p.S809C|RPS6KC1_uc010ptt.1_Missense_Mutation_p.S809C|RPS6KC1_uc010ptu.1_Missense_Mutation_p.S840C|RPS6KC1_uc010ptv.1_Missense_Mutation_p.S556C|RPS6KC1_uc001hke.2_Missense_Mutation_p.S840C	p.S1021C	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	14	3221	+			1021			Protein kinase 2.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.3062C>G	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793865	0.90453	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959	T;T;T	0.33216	1.42;1.42;1.42	5.37	5.37	0.77165	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.131019	0.53938	D	0.000056	T	0.66406	0.2786	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.74441	-0.3664	10	0.87932	D	0	-45.0442	19.469	0.94954	0.0:1.0:0.0:0.0	.	809;1021;1009	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	C	809;1021;1009	ENSP00000442306:S809C;ENSP00000355927:S1021C;ENSP00000355926:S1009C	ENSP00000355926:S1009C	S	+	2	0	RPS6KC1	211502754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.691000	0.74573	2.649000	0.89929	0.655000	0.94253	TCT		0.428	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		22	42	0	0	0	0	22	42				
TRIM58	25893	broad.mit.edu	37	1	248028119	248028119	+	Missense_Mutation	SNP	C	C	A	rs138082117		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr1:248028119C>A	ENST00000366481.3	+	3	677	c.629C>A	c.(628-630)gCg>gAg	p.A210E		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	210						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGGAGCGAGCGACGCTGCAG	0.652																																						uc001ido.2		NA																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(628-630)GCG>GAG		tripartite motif-containing 58							40.0	37.0	38.0					1																	248028119		2202	4300	6502	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028119C>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.629C>A	1.37:g.248028119C>A	ENSP00000355437:p.Ala210Glu						p.A210E	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	677	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	210			Potential.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.629C>A	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.286351	0.00251	.	.	ENSG00000162722	ENST00000366481	T	0.02579	4.24	4.35	0.304	0.15796	.	0.724071	0.12357	N	0.476037	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.47071	-0.9145	10	0.02654	T	1	.	0.9026	0.01277	0.1633:0.3985:0.1586:0.2797	.	210	Q8NG06	TRI58_HUMAN	E	210	ENSP00000355437:A210E	ENSP00000355437:A210E	A	+	2	0	TRIM58	246094742	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.408000	0.07169	0.192000	0.20272	-0.137000	0.14449	GCG		0.652	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		14	35	1	0	9.31e-06	4.86e-05	14	35				
MYO3A	53904	broad.mit.edu	37	10	26462739	26462739	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:26462739C>G	ENST00000265944.5	+	30	3712	c.3546C>G	c.(3544-3546)aaC>aaG	p.N1182K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1182					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGGAGAGTAACAACAGAGTGT	0.388																																						uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(3544-3546)AAC>AAG		myosin IIIA							66.0	65.0	65.0					10																	26462739		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462739C>G	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3546C>G	10.37:g.26462739C>G	ENSP00000265944:p.Asn1182Lys					MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	p.N1182K	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			30	3906	+			1182					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3546C>G	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.132982	0.37630	.	.	ENSG00000095777	ENST00000265944	T	0.75938	-0.98	5.4	4.5	0.54988	.	0.460512	0.26820	N	0.022334	T	0.55401	0.1918	L	0.29908	0.895	0.80722	D	1	P	0.39665	0.682	B	0.35550	0.205	T	0.58008	-0.7712	10	0.02654	T	1	.	11.4011	0.49871	0.0:0.8492:0.0:0.1508	.	1182	Q8NEV4	MYO3A_HUMAN	K	1182	ENSP00000265944:N1182K	ENSP00000265944:N1182K	N	+	3	2	MYO3A	26502745	0.961000	0.32948	0.809000	0.32408	0.704000	0.40688	0.480000	0.22244	1.412000	0.46977	0.655000	0.94253	AAC		0.388	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		8	42	0	0	0	0	8	42				
SUPV3L1	6832	broad.mit.edu	37	10	70951445	70951445	+	Missense_Mutation	SNP	G	G	T	rs562590057		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:70951445G>T	ENST00000359655.4	+	6	836	c.776G>T	c.(775-777)cGt>cTt	p.R259L	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	259	Helicase ATP-binding.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTGAAGAGCGTGTGACAGTT	0.368																																						uc001jpe.1		NA																	0				urinary_tract(1)|ovary(1)	2						c.(775-777)CGT>CTT		suppressor of var1, 3-like 1 precursor							219.0	182.0	194.0					10																	70951445		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70951445G>T	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.776G>T	10.37:g.70951445G>T	ENSP00000352678:p.Arg259Leu					SUPV3L1_uc010qjd.1_Missense_Mutation_p.R128L	p.R259L	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN			6	831	+			259			Helicase ATP-binding.		A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.776G>T	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198684	0.79015	.	.	ENSG00000156502	ENST00000359655	T	0.18810	2.19	5.66	5.66	0.87406	.	0.051939	0.85682	D	0.000000	T	0.39809	0.1092	M	0.86420	2.815	0.80722	D	1	P	0.39352	0.669	P	0.45195	0.473	T	0.38112	-0.9676	10	0.62326	D	0.03	-0.9337	14.5723	0.68220	0.0:0.0:0.8539:0.1461	.	259	Q8IYB8	SUV3_HUMAN	L	259	ENSP00000352678:R259L	ENSP00000352678:R259L	R	+	2	0	SUPV3L1	70621451	1.000000	0.71417	0.970000	0.41538	0.776000	0.43924	6.648000	0.74359	2.670000	0.90874	0.591000	0.81541	CGT		0.368	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		12	49	1	0	2.32e-05	0.000120195	12	49				
SH2D4B	387694	broad.mit.edu	37	10	82329963	82329963	+	Missense_Mutation	SNP	G	G	T	rs376600606		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:82329963G>T	ENST00000470604.2	+	2	235	c.235G>T	c.(235-237)Gtc>Ttc	p.V79F	SH2D4B_ENST00000313455.4_Missense_Mutation_p.V31F|SH2D4B_ENST00000339284.2_Missense_Mutation_p.V80F			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	79										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CGAGGTCTGGGTCTGGATCAT	0.532																																						uc001kck.1		NA																	0					0						c.(238-240)GTC>TTC		SH2 domain containing 4B isoform 1		G	PHE/VAL,PHE/VAL	1,4405	2.1+/-5.4	0,1,2202	100.0	98.0	99.0		91,238	5.7	1.0	10		99	0,8600		0,0,4300	no	missense,missense	SH2D4B	NM_001145719.1,NM_207372.2	50,50	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	31/310,80/358	82329963	1,13005	2203	4300	6503	SO:0001583	missense	387694							g.chr10:82329963G>T		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.235G>T	10.37:g.82329963G>T	ENSP00000417953:p.Val79Phe					SH2D4B_uc001kcl.1_Missense_Mutation_p.V31F	p.V80F	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Colorectal(32;0.229)		2	668	+			79					Q5SQS5|Q6ZVW9|Q6ZVZ3	Missense_Mutation	SNP	ENST00000470604.2	37	c.238G>T		.	.	.	.	.	.	.	.	.	.	G	27.1	4.804212	0.90623	2.27E-4	0.0	ENSG00000178217	ENST00000339284;ENST00000372147;ENST00000470604;ENST00000313455	T;T;T	0.18338	2.22;2.22;2.22	5.68	5.68	0.88126	.	0.074954	0.52532	D	0.000068	T	0.46946	0.1419	M	0.82193	2.58	0.54753	D	0.99998	D;D	0.89917	1.0;0.989	D;P	0.73380	0.98;0.777	T	0.49360	-0.8948	10	0.87932	D	0	-31.4422	17.2865	0.87143	0.0:0.0:1.0:0.0	.	31;80	Q5SQS7-3;Q5SQS7-2	.;.	F	80;79;79;31	ENSP00000345295:V80F;ENSP00000417953:V79F;ENSP00000314242:V31F	ENSP00000314242:V31F	V	+	1	0	SH2D4B	82319943	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.677000	0.84024	2.661000	0.90470	0.563000	0.77884	GTC		0.532	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_351984		31	45	1	0	2.85e-18	1.63e-17	31	45				
PLEKHA1	59338	broad.mit.edu	37	10	124189449	124189449	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:124189449G>A	ENST00000368990.3	+	12	1341	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	PLEKHA1_ENST00000368989.2_3'UTR|PLEKHA1_ENST00000368988.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.V404M|PLEKHA1_ENST00000538022.1_3'UTR	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	404					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTCAGTGACGTGTGAGGCAG	0.498																																						uc001lge.1		NA																	0				kidney(1)	1						c.(1210-1212)GTG>ATG		pleckstrin homology domain containing, family A							51.0	50.0	50.0					10																	124189449		2203	4300	6503	SO:0001583	missense	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124189449G>A	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.1210G>A	10.37:g.124189449G>A	ENSP00000357986:p.Val404Met					PLEKHA1_uc001lgf.1_3'UTR|PLEKHA1_uc001lgg.1_Missense_Mutation_p.V404M	p.V404M	NM_001001974	NP_001001974	Q9HB21	PKHA1_HUMAN			12	1333	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	404					B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	c.1210G>A	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447140	0.84101	.	.	ENSG00000107679	ENST00000368990;ENST00000409427;ENST00000433307	T;T	0.10005	2.92;2.92	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.24275	0.0588	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01688	-1.1295	10	0.87932	D	0	.	19.6436	0.95767	0.0:0.0:1.0:0.0	.	404	Q9HB21	PKHA1_HUMAN	M	404	ENSP00000357986:V404M;ENSP00000394416:V404M	ENSP00000357986:V404M	V	+	1	0	PLEKHA1	124179439	1.000000	0.71417	0.981000	0.43875	0.940000	0.58332	7.833000	0.86765	2.712000	0.92718	0.650000	0.86243	GTG		0.498	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		9	38	0	0	0	0	9	38				
MKI67	4288	broad.mit.edu	37	10	129903164	129903164	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr10:129903164C>G	ENST00000368654.3	-	13	7315	c.6940G>C	c.(6940-6942)Gaa>Caa	p.E2314Q	MKI67_ENST00000368653.3_Missense_Mutation_p.E1954Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2314	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAGGTCTTCTAGAGCCTGG	0.493																																						uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(6940-6942)GAA>CAA		antigen identified by monoclonal antibody Ki-67							207.0	221.0	217.0					10																	129903164		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903164C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6940G>C	10.37:g.129903164C>G	ENSP00000357643:p.Glu2314Gln					MKI67_uc001lkf.2_Missense_Mutation_p.E1954Q|MKI67_uc009yav.1_Missense_Mutation_p.E1889Q|MKI67_uc009yaw.1_Missense_Mutation_p.E1464Q	p.E2314Q	NM_002417	NP_002408	P46013	KI67_HUMAN			13	7135	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2314			16 X 122 AA approximate repeats.|11.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6940G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164941	0.57476	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.04502	3.61;3.61	3.6	3.6	0.41247	.	0.249515	0.21014	N	0.081631	T	0.20659	0.0497	M	0.80422	2.495	0.29232	N	0.873211	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.984;0.999;0.999	T	0.02560	-1.1141	10	0.33940	T	0.23	.	13.7596	0.62956	0.0:1.0:0.0:0.0	.	2313;1954;2314	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	Q	2314;1954;2313	ENSP00000357643:E2314Q;ENSP00000357642:E1954Q	ENSP00000357642:E1954Q	E	-	1	0	MKI67	129793154	0.467000	0.25831	0.229000	0.23960	0.004000	0.04260	1.099000	0.31013	1.716000	0.51395	0.561000	0.74099	GAA		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		63	269	0	0	0	0	63	269				
OR52N4	390072	broad.mit.edu	37	11	5776833	5776833	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:5776833C>A	ENST00000317254.3	+	1	911	c.863C>A	c.(862-864)cCc>cAc	p.P288H	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CTCCTACCACCCACTATGAAC	0.448																																						uc001mbu.2		NA																	0				ovary(1)|skin(1)	2						c.(862-864)CCC>CAC		olfactory receptor, family 52, subfamily N,							128.0	118.0	121.0					11																	5776833		1893	4146	6039	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776833C>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.863C>A	11.37:g.5776833C>A	ENSP00000323224:p.Pro288His					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.P288H	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	911	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	288			Helical; Name=7; (Potential).		B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.863C>A	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801988	0.70682	.	.	ENSG00000181074	ENST00000317254	T	0.00349	7.99	5.69	4.78	0.61160	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38492	N	0.001677	T	0.01592	0.0051	H	0.98295	4.195	0.36853	D	0.888029	D	0.69078	0.997	D	0.73708	0.981	T	0.09357	-1.0678	10	0.87932	D	0	.	13.5085	0.61497	0.0:0.9242:0.0:0.0758	.	288	Q8NGI2	O52N4_HUMAN	H	288	ENSP00000323224:P288H	ENSP00000323224:P288H	P	+	2	0	OR52N4	5733409	0.797000	0.28877	0.990000	0.47175	0.879000	0.50718	2.654000	0.46699	1.412000	0.46977	0.650000	0.86243	CCC		0.448	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		41	31	1	0	6.24e-21	3.58e-20	41	31				
HPX	3263	broad.mit.edu	37	11	6452915	6452915	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:6452915G>A	ENST00000265983.3	-	9	1185	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	362					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GATAAAGGCCGCATCCACAGA	0.557																																						uc001mdg.2		NA																	0					0						c.(1084-1086)GCG>GTG		hemopexin precursor							76.0	78.0	78.0					11																	6452915		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452915G>A	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1085C>T	11.37:g.6452915G>A	ENSP00000265983:p.Ala362Val					HPX_uc001mdf.2_Missense_Mutation_p.A108V|HPX_uc009yfc.2_RNA	p.A362V	NM_000613	NP_000604	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	9	1146	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	362					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.1085C>T	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336128	0.81801	.	.	ENSG00000110169	ENST00000265983	T	0.20200	2.09	5.62	5.62	0.85841	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	P	0.59221	0.854	T	0.54463	-0.8290	10	0.87932	D	0	-12.4094	17.1339	0.86734	0.0:0.0:1.0:0.0	.	362	P02790	HEMO_HUMAN	V	362	ENSP00000265983:A362V	ENSP00000265983:A362V	A	-	2	0	HPX	6409491	1.000000	0.71417	1.000000	0.80357	0.337000	0.28794	6.271000	0.72569	2.656000	0.90262	0.561000	0.74099	GCG		0.557	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		38	24	0	0	0	0	38	24				
SYT9	143425	broad.mit.edu	37	11	7324589	7324589	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:7324589G>A	ENST00000318881.6	+	2	702	c.465G>A	c.(463-465)caG>caA	p.Q155Q	SYT9_ENST00000396716.2_Silent_p.Q123Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	155					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCCGCGTGCAGCGCCAAGTCA	0.597																																						uc001mfe.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(463-465)CAG>CAA		synaptotagmin IX							49.0	42.0	44.0					11																	7324589		2201	4296	6497	SO:0001819	synonymous_variant	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7324589G>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.465G>A	11.37:g.7324589G>A						SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	p.Q155Q	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	2	702	+			155			Cytoplasmic (Potential).			Silent	SNP	ENST00000318881.6	37	c.465G>A	CCDS7778.1																																																																																				0.597	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		12	15	0	0	0	0	12	15				
MUC15	143662	broad.mit.edu	37	11	26587444	26587444	+	Splice_Site	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:26587444C>T	ENST00000455601.2	-	2	81		c.e2-1		ANO3_ENST00000531568.1_Intron|MUC15_ENST00000436318.2_Splice_Site|MUC15_ENST00000527569.1_Splice_Site|MUC15_ENST00000281268.8_Splice_Site|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Splice_Site|ANO3_ENST00000256737.3_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTAAAGGAATCTGAAAGAAAA	0.274																																						uc001mqx.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.e2-1		mucin 15 isoform b							22.0	23.0	22.0					11																	26587444		2127	4224	6351	SO:0001630	splice_region_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26587444C>T	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.38-1G>A	11.37:g.26587444C>T						ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Splice_Site_p.Y15_splice|MUC15_uc001mqy.2_Splice_Site_p.Y15_splice		NM_145650	NP_663625	Q8N387	MUC15_HUMAN			2	229	-								B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Splice_Site	SNP	ENST00000455601.2	37	c.-37_splice	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	C	8.779	0.927871	0.18056	.	.	ENSG00000169550	ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6751	0.62449	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MUC15	26544020	0.950000	0.32346	0.970000	0.41538	0.139000	0.21198	2.120000	0.41968	2.499000	0.84300	0.555000	0.69702	.		0.274	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650	Intron	9	32	0	0	0	0	9	32				
KCNA4	3739	broad.mit.edu	37	11	30033487	30033487	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:30033487C>A	ENST00000328224.6	-	2	1972	c.739G>T	c.(739-741)Gtc>Ttc	p.V247F	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	247					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCAAAGGGGACATTGACTGGC	0.498																																						uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(739-741)GTC>TTC		potassium voltage-gated channel, shaker-related							98.0	88.0	91.0					11																	30033487		1874	4131	6005	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033487C>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.739G>T	11.37:g.30033487C>A	ENSP00000328511:p.Val247Phe						p.V247F	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1891	-			247						Missense_Mutation	SNP	ENST00000328224.6	37	c.739G>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450062	0.84101	.	.	ENSG00000182255	ENST00000328224	T	0.78126	-1.15	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	D	0.000001	D	0.89150	0.6633	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90952	0.4806	10	0.87932	D	0	.	18.1944	0.89817	0.0:1.0:0.0:0.0	.	247	P22459	KCNA4_HUMAN	F	247	ENSP00000328511:V247F	ENSP00000328511:V247F	V	-	1	0	KCNA4	29990063	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.787000	0.85759	2.297000	0.77311	0.655000	0.94253	GTC		0.498	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		6	118	1	0	5.18e-06	2.71e-05	6	118				
OR4A15	81328	broad.mit.edu	37	11	55135451	55135451	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:55135451T>C	ENST00000314706.3	+	1	92	c.92T>C	c.(91-93)aTg>aCg	p.M31T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAGAACACATGAAAAATAAG	0.383																																						uc010rif.1		NA																	0		p.M31I(1)		ovary(1)|skin(1)	2						c.(91-93)ATG>ACG		olfactory receptor, family 4, subfamily A,							64.0	61.0	62.0					11																	55135451		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135451T>C	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.92T>C	11.37:g.55135451T>C	ENSP00000325065:p.Met31Thr						p.M31T	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	92	+			31			Extracellular (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.92T>C	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	t	15.02	2.708411	0.48517	.	.	ENSG00000181958	ENST00000314706	T	0.01335	5.0	3.48	3.48	0.39840	.	0.000000	0.46145	U	0.000310	T	0.04724	0.0128	L	0.53780	1.695	0.27974	N	0.93631	D	0.63880	0.993	D	0.67382	0.951	T	0.06409	-1.0828	10	0.72032	D	0.01	.	8.3261	0.32158	0.0:0.0:0.0:1.0	.	31	Q8NGL6	O4A15_HUMAN	T	31	ENSP00000325065:M31T	ENSP00000325065:M31T	M	+	2	0	OR4A15	54892027	0.989000	0.36119	0.171000	0.22900	0.032000	0.12392	0.992000	0.29667	1.456000	0.47831	0.403000	0.27427	ATG		0.383	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		8	47	0	0	0	0	8	47				
OR5I1	10798	broad.mit.edu	37	11	55703122	55703122	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:55703122A>G	ENST00000301532.3	-	1	754	c.755T>C	c.(754-756)aTc>aCc	p.I252T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	252					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCCTTGGTAGATCGTCACTGA	0.428																																						uc010ris.1		NA																	0				ovary(1)	1						c.(754-756)ATC>ACC		olfactory receptor, family 5, subfamily I,							76.0	75.0	76.0					11																	55703122		2201	4296	6497	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703122A>G	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.755T>C	11.37:g.55703122A>G	ENSP00000301532:p.Ile252Thr						p.I252T	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	755	-			252			Helical; Name=6; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.755T>C	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.660546	0.29515	.	.	ENSG00000167825	ENST00000301532	T	0.00202	8.56	5.16	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000192	T	0.00328	0.0010	L	0.43554	1.36	0.24203	N	0.995508	D	0.69078	0.997	D	0.80764	0.994	T	0.52472	-0.8571	10	0.66056	D	0.02	.	7.0082	0.24848	0.8205:0.0:0.1795:0.0	.	252	Q13606	OR5I1_HUMAN	T	252	ENSP00000301532:I252T	ENSP00000301532:I252T	I	-	2	0	OR5I1	55459698	0.411000	0.25384	0.428000	0.26697	0.111000	0.19643	5.207000	0.65197	0.893000	0.36288	0.523000	0.50628	ATC		0.428	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		5	17	0	0	0	0	5	17				
LPXN	9404	broad.mit.edu	37	11	58322350	58322350	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:58322350A>G	ENST00000395074.2	-	4	370	c.282T>C	c.(280-282)gaT>gaC	p.D94D	LPXN_ENST00000528954.1_Silent_p.D99D|LPXN_ENST00000528489.1_Silent_p.D74D	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	94					cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCATGAGCTCATCCAACTGAG	0.502																																						uc001nmw.2		NA																	0				ovary(1)	1						c.(280-282)GAT>GAC		leupaxin isoform 2							154.0	136.0	142.0					11																	58322350		2201	4295	6496	SO:0001819	synonymous_variant	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58322350A>G	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.282T>C	11.37:g.58322350A>G						LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Silent_p.D99D|LPXN_uc010rkk.1_Silent_p.D74D	p.D94D	NM_004811	NP_004802	O60711	LPXN_HUMAN			4	427	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	94			LD motif 3.		B2R8B4|B4DV71|Q53FW6|Q6FI07	Silent	SNP	ENST00000395074.2	37	c.282T>C	CCDS7969.1																																																																																				0.502	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		11	88	0	0	0	0	11	88				
PITPNM1	9600	broad.mit.edu	37	11	67265032	67265032	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:67265032C>T	ENST00000534749.1	-	12	2089	c.1901G>A	c.(1900-1902)aGc>aAc	p.S634N	PITPNM1_ENST00000436757.2_Missense_Mutation_p.S634N|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000356404.3_Missense_Mutation_p.S634N			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	634					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGCCATGTCGCTGGGGATGCG	0.672																																					GBM(28;144 709 4607 5525)	uc001olx.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(1900-1902)AGC>AAC		phosphatidylinositol transfer protein,							78.0	86.0	83.0					11																	67265032		2200	4294	6494	SO:0001583	missense	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67265032C>T	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.1901G>A	11.37:g.67265032C>T	ENSP00000437286:p.Ser634Asn					PITPNM1_uc001olw.2_5'UTR|PITPNM1_uc001oly.2_Missense_Mutation_p.S634N|PITPNM1_uc001olz.2_Missense_Mutation_p.S634N	p.S634N	NM_004910	NP_004901	O00562	PITM1_HUMAN			12	2090	-			634					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	c.1901G>A	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258831	0.23051	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.45668	0.89;0.9;0.89	3.71	2.8	0.32819	.	0.850395	0.10383	N	0.681320	T	0.57066	0.2028	M	0.64567	1.98	0.33503	D	0.590201	D;P	0.89917	1.0;0.862	D;P	0.85130	0.997;0.584	T	0.58923	-0.7550	10	0.33940	T	0.23	-12.8457	7.0783	0.25217	0.0:0.8746:0.0:0.1254	.	634;634	O00562-2;O00562	.;PITM1_HUMAN	N	634	ENSP00000437286:S634N;ENSP00000398787:S634N;ENSP00000348772:S634N	ENSP00000348772:S634N	S	-	2	0	PITPNM1	67021608	0.000000	0.05858	0.817000	0.32601	0.214000	0.24535	0.640000	0.24705	0.924000	0.37069	0.561000	0.74099	AGC		0.672	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		11	118	0	0	0	0	11	118				
SERPINH1	871	broad.mit.edu	37	11	75280100	75280100	+	Missense_Mutation	SNP	C	C	T	rs200572997		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:75280100C>T	ENST00000524558.1	+	4	2273	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	SERPINH1_ENST00000533603.1_Missense_Mutation_p.R280C|SERPINH1_ENST00000358171.3_Missense_Mutation_p.R280C|SERPINH1_ENST00000530284.1_Missense_Mutation_p.R280C|SERPINH1_ENST00000525876.1_Missense_Mutation_p.R63C			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	280					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GCCTCTCGAGCGCCTTGAAAA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		21637	0.001		0.0	False		,,,				2504	0.0					uc001owr.2		NA																	0				ovary(2)	2						c.(838-840)CGC>TGC		serine (or cysteine) proteinase inhibitor, clade							81.0	73.0	76.0					11																	75280100		2200	4293	6493	SO:0001583	missense	871				regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity	g.chr11:75280100C>T	X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.838C>T	11.37:g.75280100C>T	ENSP00000434412:p.Arg280Cys					SERPINH1_uc009yuf.2_Missense_Mutation_p.R280C|SERPINH1_uc009yug.2_Missense_Mutation_p.R280C|SERPINH1_uc001ows.2_Missense_Mutation_p.R280C|SERPINH1_uc001owt.2_Missense_Mutation_p.R63C	p.R280C	NM_001235	NP_001226	P50454	SERPH_HUMAN			4	1067	+	Ovarian(111;0.11)		280					B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Missense_Mutation	SNP	ENST00000524558.1	37	c.838C>T	CCDS8239.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.54	3.645121	0.67358	.	.	ENSG00000149257	ENST00000533603;ENST00000358171;ENST00000421448;ENST00000530284;ENST00000532356;ENST00000524558;ENST00000525876	D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	5.54	4.55	0.56014	Serpin domain (3);	0.106321	0.64402	D	0.000013	D	0.90535	0.7034	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69824	0.954;0.966	D	0.90955	0.4808	10	0.72032	D	0.01	.	12.4054	0.55436	0.2415:0.7585:0.0:0.0	.	280;280	E9PPV6;P50454	.;SERPH_HUMAN	C	280;280;259;280;280;280;63	ENSP00000434657:R280C;ENSP00000350894:R280C;ENSP00000436305:R280C;ENSP00000436040:R280C;ENSP00000434412:R280C;ENSP00000433532:R63C	ENSP00000350894:R280C	R	+	1	0	SERPINH1	74957748	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.152000	0.31663	2.604000	0.88044	0.655000	0.94253	CGC		0.562	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383610.1	NM_004353		27	33	0	0	0	0	27	33				
MSANTD4	84437	broad.mit.edu	37	11	105880416	105880416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:105880416G>A	ENST00000301919.4	-	3	2299	c.884C>T	c.(883-885)aCa>aTa	p.T295I	MSANTD4_ENST00000529805.1_5'UTR	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	295						nucleus (GO:0005634)											TAACTTCTCTGTTTCTATGTC	0.408																																						uc001piy.2		NA																	0				breast(1)	1						c.(883-885)ACA>ATA		hypothetical protein LOC84437							168.0	152.0	157.0					11																	105880416		2201	4299	6500	SO:0001583	missense	84437					nucleus		g.chr11:105880416G>A	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.884C>T	11.37:g.105880416G>A	ENSP00000304713:p.Thr295Ile					KIAA1826_uc001piz.2_Missense_Mutation_p.T295I	p.T295I	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)	3	1057	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	295			Potential.		Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.884C>T	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760113	0.49468	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.22	5.22	0.72569	.	0.447272	0.26196	N	0.025780	T	0.48150	0.1484	N	0.24115	0.695	0.36138	D	0.846571	B	0.31893	0.345	B	0.32465	0.146	T	0.56123	-0.8031	9	0.44086	T	0.13	-9.5922	19.1309	0.93406	0.0:0.0:1.0:0.0	.	295	Q8NCY6	K1826_HUMAN	I	295	.	ENSP00000304713:T295I	T	-	2	0	KIAA1826	105385626	1.000000	0.71417	0.721000	0.30653	0.605000	0.37080	6.678000	0.74508	2.587000	0.87381	0.491000	0.48974	ACA		0.408	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		12	134	0	0	0	0	12	134				
FDXACB1	91893	broad.mit.edu	37	11	111746387	111746387	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr11:111746387C>A	ENST00000260257.4	-	5	1181	c.1134G>T	c.(1132-1134)caG>caT	p.Q378H	FDXACB1_ENST00000542429.1_Missense_Mutation_p.Q229H|ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	378					phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA processing (GO:0008033)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TGTGGCACTTCTGAAAGACAG	0.443																																						uc001pmc.3		NA																	0					0						c.(1132-1134)CAG>CAT		ferredoxin-fold anticodon binding domain							192.0	186.0	188.0					11																	111746387		1946	4161	6107	SO:0001583	missense	91893				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr11:111746387C>A		CCDS44729.1	11q23.1	2011-04-15			ENSG00000255561	ENSG00000255561			25110	protein-coding gene	gene with protein product	"""hypothetical protein BC006136"""						Standard	NR_038364		Approved	LOC91893, hCG_2033039	uc001pmc.4	Q9BRP7	OTTHUMG00000166795	ENST00000260257.4:c.1134G>T	11.37:g.111746387C>A	ENSP00000260257:p.Gln378His					ALG9_uc010rwo.1_Intron|FDXACB1_uc009yyi.2_Missense_Mutation_p.Q229H	p.Q378H	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN			5	1431	-			378					A0PJW7|B4DUU2	Missense_Mutation	SNP	ENST00000260257.4	37	c.1134G>T	CCDS44729.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.155871	0.38021	.	.	ENSG00000255561	ENST00000260257;ENST00000542429;ENST00000528274	T;T;T	0.37752	1.18;1.18;1.18	6.17	3.29	0.37713	.	0.361723	0.32970	N	0.005426	T	0.26085	0.0636	L	0.34521	1.04	0.29304	N	0.868472	P	0.38642	0.641	B	0.38500	0.275	T	0.18085	-1.0348	10	0.87932	D	0	.	6.6643	0.23032	0.0:0.6698:0.131:0.1992	.	378	Q9BRP7	FDXA1_HUMAN	H	378;229;289	ENSP00000260257:Q378H;ENSP00000441304:Q229H;ENSP00000435572:Q289H	ENSP00000260257:Q378H	Q	-	3	2	FDXACB1	111251597	0.343000	0.24818	0.994000	0.49952	0.992000	0.81027	0.249000	0.18216	0.922000	0.37019	-0.136000	0.14681	CAG		0.443	FDXACB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391497.1	NM_138378		13	213	1	0	0.00010058	0.000514889	13	213				
AICDA	57379	broad.mit.edu	37	12	8757850	8757850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:8757850G>A	ENST00000229335.6	-	3	491	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	AICDA_ENST00000537228.1_Missense_Mutation_p.H130Y	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	130					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CCGGCGCGGTGCAGCCGCCGC	0.647																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2		NA																	0				ovary(1)|pancreas(1)	2						c.(388-390)CAC>TAC		activation-induced cytidine deaminase							18.0	21.0	20.0					12																	8757850		1908	4109	6017	SO:0001583	missense	57379	Immune_Deficiency_with_Hyper-IgM			B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8757850G>A	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.388C>T	12.37:g.8757850G>A	ENSP00000229335:p.His130Tyr					AICDA_uc001qup.1_Missense_Mutation_p.H125Y|AICDA_uc001quq.1_Missense_Mutation_p.H125Y|AICDA_uc009zgd.1_Intron	p.H130Y	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			3	467	-	Lung SC(5;0.184)		130					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.388C>T	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	G	9.017	0.983890	0.18889	.	.	ENSG00000111732	ENST00000229335;ENST00000537228	T;T	0.64260	-0.09;-0.09	5.26	4.37	0.52481	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	0.216625	0.48767	D	0.000178	T	0.49029	0.1533	L	0.27053	0.805	0.36572	D	0.87305	P;P;P	0.45768	0.662;0.866;0.777	B;B;B	0.41894	0.284;0.369;0.284	T	0.55477	-0.8135	10	0.30854	T	0.27	-41.6254	12.5734	0.56349	0.081:0.0:0.919:0.0	.	130;130;130	Q9GZX7;Q6QJ80;Q6QJ81	AICDA_HUMAN;.;.	Y	130	ENSP00000229335:H130Y;ENSP00000445691:H130Y	ENSP00000229335:H130Y	H	-	1	0	AICDA	8649117	1.000000	0.71417	0.990000	0.47175	0.011000	0.07611	4.661000	0.61518	1.217000	0.43442	0.561000	0.74099	CAC		0.647	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		22	23	0	0	0	0	22	23				
ERBB3	2065	broad.mit.edu	37	12	56478837	56478837	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:56478837C>G	ENST00000267101.3	+	3	733	c.293C>G	c.(292-294)cCa>cGa	p.P98R	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.P98R|ERBB3_ENST00000415288.2_Missense_Mutation_p.P39R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	98					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TCTACTCTACCATTGCCCAAC	0.507																																						uc001sjh.2		NA																	0				lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(292-294)CCA>CGA		erbB-3 isoform 1 precursor							185.0	156.0	166.0					12																	56478837		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56478837C>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.293C>G	12.37:g.56478837C>G	ENSP00000267101:p.Pro98Arg					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.P39R|ERBB3_uc001sjg.2_Missense_Mutation_p.P98R	p.P98R	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		3	486	+			98			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.293C>G	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465365	0.43839	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	5.82	5.82	0.92795	EGF receptor, L domain (1);	0.000000	0.64402	D	0.000004	D	0.89280	0.6670	M	0.69463	2.115	0.80722	D	1	P;D	0.89917	0.577;1.0	P;D	0.83275	0.566;0.996	D	0.89568	0.3811	10	0.87932	D	0	.	18.8728	0.92322	0.0:1.0:0.0:0.0	.	98;98	P21860;P21860-2	ERBB3_HUMAN;.	R	98;39;98;98;98;39;39	ENSP00000448636:P98R;ENSP00000449138:P39R;ENSP00000267101:P98R;ENSP00000415753:P98R;ENSP00000449713:P39R;ENSP00000408340:P39R	ENSP00000267101:P98R	P	+	2	0	ERBB3	54765104	1.000000	0.71417	0.218000	0.23776	0.098000	0.18820	7.372000	0.79612	2.748000	0.94277	0.655000	0.94253	CCA		0.507	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			6	112	0	0	0	0	6	112				
ANKS1B	56899	broad.mit.edu	37	12	100173680	100173680	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:100173680C>T	ENST00000547776.2	-	6	815	c.816G>A	c.(814-816)caG>caA	p.Q272Q	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.Q272Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	272						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGAGAGATTTCTGAGATGGAT	0.343																																						uc001tge.1		NA																	0					0						c.(814-816)CAG>CAA		cajalin 2 isoform a							159.0	157.0	157.0					12																	100173680		1832	4087	5919	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100173680C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.816G>A	12.37:g.100173680C>T						ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron	p.Q272Q	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	6	1233	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	272					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.816G>A	CCDS55872.1																																																																																				0.343	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		31	64	0	0	0	0	31	64				
NALCN	259232	broad.mit.edu	37	13	101726002	101726002	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr13:101726002T>A	ENST00000251127.6	-	37	4212	c.4131A>T	c.(4129-4131)aaA>aaT	p.K1377N		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1377					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGGTAATAGCTTTTCCAGCCG	0.353																																						uc001vox.1		NA																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(4129-4131)AAA>AAT		voltage gated channel like 1							79.0	74.0	76.0					13																	101726002		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101726002T>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4131A>T	13.37:g.101726002T>A	ENSP00000251127:p.Lys1377Asn						p.K1377N	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			37	4320	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1377			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4131A>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.576638	0.28092	.	.	ENSG00000102452	ENST00000251127	D	0.98345	-4.88	5.75	2.16	0.27623	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.90359	0.6983	N	0.03608	-0.345	0.80722	D	1	B	0.14438	0.01	B	0.20577	0.03	D	0.83414	0.0029	10	0.02654	T	1	.	6.6145	0.22769	0.0:0.428:0.0:0.572	.	1377	Q8IZF0	NALCN_HUMAN	N	1377	ENSP00000251127:K1377N	ENSP00000251127:K1377N	K	-	3	2	NALCN	100524003	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	0.258000	0.18387	0.476000	0.27440	0.533000	0.62120	AAA		0.353	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		4	26	0	0	0	0	4	26				
OR4K1	79544	broad.mit.edu	37	14	20404652	20404652	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:20404652C>G	ENST00000285600.4	+	1	886	c.827C>G	c.(826-828)aCt>aGt	p.T276S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGTTCTACACTGTTTGTACT	0.428																																						uc001vwj.1		NA																	0				skin(2)|ovary(1)	3						c.(826-828)ACT>AGT		olfactory receptor, family 4, subfamily K,							117.0	127.0	123.0					14																	20404652		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404652C>G		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.827C>G	14.37:g.20404652C>G	ENSP00000285600:p.Thr276Ser						p.T276S	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	827	+	all_cancers(95;0.00108)		276			Helical; Name=7; (Potential).		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.827C>G	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	8.572	0.880200	0.17467	.	.	ENSG00000155249	ENST00000285600	T	0.00211	8.54	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.447307	0.21084	N	0.080424	T	0.00328	0.0010	L	0.53617	1.68	0.25479	N	0.987758	B	0.22003	0.063	B	0.40901	0.343	T	0.52873	-0.8517	10	0.33940	T	0.23	.	16.0154	0.80434	0.0:1.0:0.0:0.0	.	276	Q8NGD4	OR4K1_HUMAN	S	276	ENSP00000285600:T276S	ENSP00000285600:T276S	T	+	2	0	OR4K1	19474492	0.000000	0.05858	1.000000	0.80357	0.615000	0.37417	0.709000	0.25734	2.644000	0.89710	0.655000	0.94253	ACT		0.428	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			10	332	0	0	0	0	10	332				
LRP10	26020	broad.mit.edu	37	14	23346447	23346447	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:23346447T>C	ENST00000359591.4	+	7	2544	c.1853T>C	c.(1852-1854)aTc>aCc	p.I618T	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	618	Pro-rich.				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)		CCACTGCCCATCAAGGCTCCC	0.657																																						uc001whd.2		NA																	0				central_nervous_system(1)	1						c.(1852-1854)ATC>ACC		low density lipoprotein receptor-related protein							41.0	48.0	46.0					14																	23346447		2203	4293	6496	SO:0001583	missense	26020				endocytosis	coated pit|integral to membrane		g.chr14:23346447T>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.1853T>C	14.37:g.23346447T>C	ENSP00000352601:p.Ile618Thr					LRP10_uc001whe.2_Intron	p.I618T	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN		GBM - Glioblastoma multiforme(265;0.00549)	7	2406	+	all_cancers(95;4.69e-05)		618			Pro-rich.|Cytoplasmic (Potential).		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	ENST00000359591.4	37	c.1853T>C	CCDS9578.1	.	.	.	.	.	.	.	.	.	.	T	1.269	-0.613546	0.03690	.	.	ENSG00000197324	ENST00000359591	D	0.92397	-3.03	4.9	2.55	0.30701	.	1.148660	0.06186	N	0.680344	D	0.83529	0.5274	N	0.22421	0.69	0.26434	N	0.975895	B	0.02656	0.0	B	0.01281	0.0	T	0.68161	-0.5482	10	0.13853	T	0.58	-6.0653	3.2255	0.06730	0.1731:0.1875:0.0:0.6394	.	618	Q7Z4F1	LRP10_HUMAN	T	618	ENSP00000352601:I618T	ENSP00000352601:I618T	I	+	2	0	LRP10	22416287	0.017000	0.18338	0.562000	0.28370	0.129000	0.20672	0.244000	0.18124	0.462000	0.27095	0.379000	0.24179	ATC		0.657	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071663.3			7	156	0	0	0	0	7	156				
NIN	51199	broad.mit.edu	37	14	51237120	51237120	+	Missense_Mutation	SNP	C	C	A	rs369887734		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:51237120C>A	ENST00000382041.3	-	12	1610	c.1420G>T	c.(1420-1422)Gcc>Tcc	p.A474S	NIN_ENST00000453196.1_Missense_Mutation_p.A474S|NIN_ENST00000389868.3_Missense_Mutation_p.A474S|NIN_ENST00000382043.4_Missense_Mutation_p.A474S|NIN_ENST00000324330.9_Missense_Mutation_p.A474S|NIN_ENST00000245441.5_Missense_Mutation_p.A474S|NIN_ENST00000530997.2_Missense_Mutation_p.A474S	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	474					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AAAGAGAGGGCAAGGCGGTCC	0.483			T	PDGFRB	MPD																																	uc001wym.2		NA		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(1420-1422)GCC>TCC		ninein isoform 5							159.0	142.0	147.0					14																	51237120		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51237120C>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1420G>T	14.37:g.51237120C>A	ENSP00000371472:p.Ala474Ser					NIN_uc001wyi.2_Missense_Mutation_p.A474S|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.A474S|NIN_uc010tqp.1_Missense_Mutation_p.A480S|NIN_uc001wyo.2_Missense_Mutation_p.A474S|NIN_uc001wyp.1_Missense_Mutation_p.A436S	p.A474S	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			12	1611	-	all_epithelial(31;0.00244)|Breast(41;0.127)		474			Potential.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.1420G>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	c	10.58	1.389296	0.25118	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94	5.64	2.83	0.33086	.	0.162786	0.53938	D	0.000058	T	0.27278	0.0669	L	0.34521	1.04	0.19945	N	0.999949	P;P;D;B;D	0.71674	0.504;0.811;0.957;0.051;0.998	B;P;P;B;D	0.80764	0.332;0.511;0.708;0.012;0.994	T	0.11036	-1.0604	10	0.10636	T	0.68	-1.7839	9.3502	0.38133	0.0:0.6479:0.0:0.3521	.	480;474;474;474;474	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	S	474;474;474;474;480;474;474;474	ENSP00000245441:A474S;ENSP00000374518:A474S;ENSP00000371474:A474S;ENSP00000371472:A474S;ENSP00000324210:A474S;ENSP00000412391:A474S	ENSP00000245441:A474S	A	-	1	0	NIN	50306870	0.161000	0.22892	0.662000	0.29724	0.818000	0.46254	0.637000	0.24659	0.761000	0.33130	-0.147000	0.13772	GCC		0.483	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		5	27	1	0	0.000602214	0.00299364	5	27				
FUT8	2530	broad.mit.edu	37	14	66136078	66136078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:66136078C>T	ENST00000360689.5	+	7	2442	c.715C>T	c.(715-717)Cga>Tga	p.R239*	FUT8_ENST00000557164.1_Nonsense_Mutation_p.R76*|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000358307.2_Nonsense_Mutation_p.R110*|FUT8_ENST00000394585.1_Nonsense_Mutation_p.R239*|FUT8_ENST00000394586.2_Nonsense_Mutation_p.R239*|FUT8_ENST00000417683.1_5'Flank	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	239	GT23. {ECO:0000255|PROSITE- ProRule:PRU00992}.				cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGGCACCCAGCGAACACTCAT	0.473																																						uc001xin.2		NA																	0				ovary(1)	1						c.(715-717)CGA>TGA		fucosyltransferase 8 isoform a							200.0	172.0	181.0					14																	66136078		2203	4300	6503	SO:0001587	stop_gained	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66136078C>T	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.715C>T	14.37:g.66136078C>T	ENSP00000353910:p.Arg239*					FUT8_uc001xio.2_Nonsense_Mutation_p.R239*|FUT8_uc010tsp.1_Nonsense_Mutation_p.R76*|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Nonsense_Mutation_p.R239*|FUT8_uc001xiq.2_Nonsense_Mutation_p.R110*|FUT8_uc001xis.2_5'Flank	p.R239*	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	7	1912	+			239			Lumenal (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Nonsense_Mutation	SNP	ENST00000360689.5	37	c.715C>T	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	C	45	11.365344	0.99551	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	.	.	.	5.85	1.36	0.22044	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.6385	14.4482	0.67367	0.5425:0.4574:0.0:0.0	.	.	.	.	X	239;239;76;239;110	.	ENSP00000345865:R239X	R	+	1	2	FUT8	65205831	0.991000	0.36638	0.999000	0.59377	0.811000	0.45836	0.375000	0.20518	0.345000	0.23873	-0.181000	0.13052	CGA		0.473	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		21	68	0	0	0	0	21	68				
SLC25A47	283600	broad.mit.edu	37	14	100793680	100793680	+	Silent	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr14:100793680C>G	ENST00000361529.3	+	4	378	c.300C>G	c.(298-300)ctC>ctG	p.L100L	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	100					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						ACATCACGCTCTCGGGATGCG	0.662																																					GBM(11;1289 1351)	uc001yhc.2		NA																	0					0						c.(298-300)CTC>CTG		chromosome 14 open reading frame 68							77.0	72.0	73.0					14																	100793680		2203	4299	6502	SO:0001819	synonymous_variant	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100793680C>G		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.300C>G	14.37:g.100793680C>G						C14orf68_uc001yhd.2_5'UTR	p.L100L	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			4	373	+		Melanoma(154;0.152)	100			Solcar 2.|Helical; Name=3; (Potential).		B2RP39|Q68CL2|Q6PZD8|Q86U14	Silent	SNP	ENST00000361529.3	37	c.300C>G	CCDS9959.1																																																																																				0.662	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			16	60	0	0	0	0	16	60				
ACTC1	70	broad.mit.edu	37	15	35086901	35086901	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:35086901C>T	ENST00000290378.4	-	2	764	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'Flank	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	37					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GGGCGGCCCACGATGGACGGG	0.687																																						uc001ziu.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(109-111)GTG>ATG		cardiac muscle alpha actin 1 proprotein							23.0	27.0	25.0					15																	35086901		2191	4287	6478	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35086901C>T	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.109G>A	15.37:g.35086901C>T	ENSP00000290378:p.Val37Met					uc001zit.1_Intron	p.V37M	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	2	352	-		all_lung(180;2.3e-08)	37					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.109G>A	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579784	0.65992	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.95447	-3.71	4.21	4.21	0.49690	.	0.000000	0.47093	U	0.000259	D	0.97980	0.9335	M	0.93898	3.47	0.58432	D	0.999999	D	0.61080	0.989	P	0.60415	0.874	D	0.99564	1.0969	10	0.87932	D	0	.	16.9537	0.86252	0.0:1.0:0.0:0.0	.	37	P68032	ACTC_HUMAN	M	37	ENSP00000290378:V37M	ENSP00000290378:V37M	V	-	1	0	ACTC1	32874193	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.807000	0.86032	2.064000	0.61679	0.561000	0.74099	GTG		0.687	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		9	25	0	0	0	0	9	25				
WDR72	256764	broad.mit.edu	37	15	53907901	53907901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:53907901C>G	ENST00000396328.1	-	15	2741	c.2502G>C	c.(2500-2502)ttG>ttC	p.L834F	WDR72_ENST00000557913.1_Missense_Mutation_p.L831F|WDR72_ENST00000559418.1_Missense_Mutation_p.L844F|WDR72_ENST00000360509.5_Missense_Mutation_p.L834F	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	834										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TATCTTCATTCAAAGAAATTC	0.343																																						uc002acj.2		NA																	0				lung(1)|skin(1)	2						c.(2500-2502)TTG>TTC		WD repeat domain 72							61.0	64.0	63.0					15																	53907901		2192	4290	6482	SO:0001583	missense	256764							g.chr15:53907901C>G	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2502G>C	15.37:g.53907901C>G	ENSP00000379619:p.Leu834Phe					WDR72_uc010bfi.1_Missense_Mutation_p.L834F	p.L834F	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2544	-			834					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2502G>C	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	8.362	0.833286	0.16820	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.34859	1.34;1.34	5.72	-5.56	0.02529	.	0.183476	0.38778	N	0.001562	T	0.12305	0.0299	N	0.08118	0	0.21822	N	0.999522	B	0.10296	0.003	B	0.04013	0.001	T	0.05354	-1.0890	10	0.87932	D	0	.	2.8603	0.05584	0.0955:0.1432:0.2813:0.48	.	834	Q3MJ13	WDR72_HUMAN	F	834	ENSP00000379619:L834F;ENSP00000353699:L834F	ENSP00000353699:L834F	L	-	3	2	WDR72	51695193	0.398000	0.25279	0.817000	0.32601	0.069000	0.16628	-0.078000	0.11375	-0.654000	0.05394	-1.044000	0.02363	TTG		0.343	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		9	75	0	0	0	0	9	75				
ADAM10	102	broad.mit.edu	37	15	58933155	58933155	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:58933155T>C	ENST00000260408.3	-	8	1276	c.833A>G	c.(832-834)aAt>aGt	p.N278S	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	278	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AGCAGTTGTATTGATCTAAAA	0.373																																						uc002afd.1		NA																	0				skin(2)	2						c.(832-834)AAT>AGT		ADAM metallopeptidase domain 10 precursor							65.0	64.0	64.0					15																	58933155		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58933155T>C	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.833A>G	15.37:g.58933155T>C	ENSP00000260408:p.Asn278Ser					ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron	p.N278S	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	8	1277	-			278			Peptidase M12B.|Extracellular (Potential).		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.833A>G	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439387	0.63067	.	.	ENSG00000137845	ENST00000260408;ENST00000396136	D	0.86230	-2.09	5.56	4.4	0.53042	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.079993	0.85682	D	0.000000	D	0.83617	0.5293	L	0.40543	1.245	0.80722	D	1	B	0.28760	0.221	B	0.36766	0.232	T	0.79463	-0.1793	10	0.39692	T	0.17	-3.9702	11.9877	0.53157	0.1299:0.0:0.0:0.8701	.	278	O14672	ADA10_HUMAN	S	278;97	ENSP00000260408:N278S	ENSP00000260408:N278S	N	-	2	0	ADAM10	56720447	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	0.986000	0.38683	0.528000	0.53228	AAT		0.373	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		3	38	0	0	0	0	3	38				
ADAM10	102	broad.mit.edu	37	15	58971446	58971446	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:58971446C>G	ENST00000260408.3	-	4	804	c.361G>C	c.(361-363)Gat>Cat	p.D121H	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	121					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AATCTTCCATCAATAACAGAC	0.358																																						uc002afd.1		NA																	0				skin(2)	2						c.(361-363)GAT>CAT		ADAM metallopeptidase domain 10 precursor							87.0	76.0	80.0					15																	58971446		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58971446C>G	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.361G>C	15.37:g.58971446C>G	ENSP00000260408:p.Asp121His					ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Missense_Mutation_p.D121H	p.D121H	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	4	805	-			121			Extracellular (Potential).		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.361G>C	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783149	0.90282	.	.	ENSG00000137845	ENST00000260408	T	0.30714	1.52	5.67	5.67	0.87782	Peptidase M12B, propeptide (1);	0.044446	0.85682	D	0.000000	T	0.56411	0.1983	M	0.87269	2.87	0.80722	D	1	P;P	0.46142	0.873;0.607	P;P	0.51945	0.685;0.61	T	0.62932	-0.6749	10	0.72032	D	0.01	-32.342	19.7564	0.96294	0.0:1.0:0.0:0.0	.	121;121	A0AV88;O14672	.;ADA10_HUMAN	H	121	ENSP00000260408:D121H	ENSP00000260408:D121H	D	-	1	0	ADAM10	56758738	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.728000	0.68531	2.677000	0.91161	0.467000	0.42956	GAT		0.358	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		4	42	0	0	0	0	4	42				
FOXB1	27023	broad.mit.edu	37	15	60297874	60297874	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:60297874T>C	ENST00000396057.4	+	2	1191	c.712T>C	c.(712-714)Tac>Cac	p.Y238H	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	238					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GAGTGGCGACTACAGCGCCTA	0.706																																						uc002agj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(712-714)TAC>CAC		forkhead box B1							10.0	12.0	11.0					15																	60297874		2182	4231	6413	SO:0001583	missense	27023				axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr15:60297874T>C	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"""Forkhead boxes"""	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.712T>C	15.37:g.60297874T>C	ENSP00000379369:p.Tyr238His					FOXB1_uc010bgh.1_Intron	p.Y238H	NM_012182	NP_036314	Q99853	FOXB1_HUMAN			2	1191	+			238					O60652|O75917|Q14CL2	Missense_Mutation	SNP	ENST00000396057.4	37	c.712T>C	CCDS32255.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095276	0.76870	.	.	ENSG00000171956	ENST00000396057	D	0.96041	-3.89	4.01	4.01	0.46588	.	0.183705	0.36893	U	0.002348	D	0.95752	0.8618	M	0.62723	1.935	0.44627	D	0.997609	D	0.62365	0.991	P	0.55161	0.77	D	0.95580	0.8645	10	0.72032	D	0.01	.	11.7743	0.51977	0.0:0.0:0.0:1.0	.	238	Q99853	FOXB1_HUMAN	H	238	ENSP00000379369:Y238H	ENSP00000379369:Y238H	Y	+	1	0	FOXB1	58085166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.080000	0.71299	1.440000	0.47531	0.454000	0.30748	TAC		0.706	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			9	11	0	0	0	0	9	11				
IQCH	64799	broad.mit.edu	37	15	67687836	67687836	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:67687836C>T	ENST00000335894.4	+	13	1906	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C	IQCH_ENST00000546225.1_Intron|IQCH_ENST00000360277.4_Intron|IQCH_ENST00000358767.3_Intron	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	614										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TGGAGGCAAACGTGTCTTTGA	0.448																																						uc002aqo.1		NA																	0				skin(3)|ovary(1)	4						c.(1840-1842)CGT>TGT		IQ motif containing H isoform 1							111.0	101.0	104.0					15																	67687836		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67687836C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1840C>T	15.37:g.67687836C>T	ENSP00000336861:p.Arg614Cys					IQCH_uc002aqq.1_Intron|IQCH_uc002aqp.1_Intron	p.R614C	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	13	1887	+			614					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.1840C>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432179	0.25813	.	.	ENSG00000103599	ENST00000335894	T	0.54675	0.56	6.17	4.18	0.49190	.	0.507371	0.19072	N	0.123461	T	0.70325	0.3211	M	0.77820	2.39	0.09310	N	0.999998	D	0.76494	0.999	D	0.67900	0.954	T	0.63247	-0.6680	10	0.72032	D	0.01	-0.7397	12.5206	0.56056	0.2084:0.6924:0.0992:0.0	.	614	Q86VS3	IQCH_HUMAN	C	614	ENSP00000336861:R614C	ENSP00000336861:R614C	R	+	1	0	IQCH	65474890	0.010000	0.17322	0.013000	0.15412	0.039000	0.13416	1.415000	0.34748	1.604000	0.50143	0.655000	0.94253	CGT		0.448	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		9	68	0	0	0	0	9	68				
FAH	2184	broad.mit.edu	37	15	80467433	80467433	+	Splice_Site	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr15:80467433G>T	ENST00000407106.1	+	11	1068	c.913G>T	c.(913-915)Gga>Tga	p.G305*	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Splice_Site_p.G305*|FAH_ENST00000561421.1_Splice_Site_p.G305*|FAH_ENST00000539156.1_Splice_Site_p.G235*			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	305					arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	fumarylacetoacetase activity (GO:0004334)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAACCTGAAAGGTATGTTGTA	0.562									Tyrosinemia, type 1																													uc002bfj.2		NA																	0					0						c.(913-915)GGA>TGA		fumarylacetoacetase							153.0	128.0	136.0					15																	80467433		2203	4300	6503	SO:0001630	splice_region_variant	2184	Tyrosinemia_type_1	Familial Cancer Database	Fumarylacetoacetase Deficiency, Hepatorenal Tyrosinemia, Hereditary Tyrosinemia 1, HT1	L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding	g.chr15:80467433G>T	M55150	CCDS10314.1	15q25.1	2012-08-30			ENSG00000103876	ENSG00000103876	3.7.1.2		3579	protein-coding gene	gene with protein product		613871				1998338, 2336361	Standard	NM_000137		Approved		uc002bfm.2	P16930	OTTHUMG00000144187	ENST00000407106.1:c.913+1G>T	15.37:g.80467433G>T						FAH_uc002bfk.1_Nonsense_Mutation_p.G305*|FAH_uc002bfm.1_Nonsense_Mutation_p.G305*|FAH_uc002bfn.1_Nonsense_Mutation_p.G235*|FAH_uc010bln.1_5'Flank|FAH_uc010blo.1_5'Flank	p.G305*	NM_000137	NP_000128	P16930	FAAA_HUMAN			11	995	+			305					B2R9X1|D3DW95|Q53XA7	Nonsense_Mutation	SNP	ENST00000407106.1	37	c.913G>T	CCDS10314.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116846	0.77323	.	.	ENSG00000103876	ENST00000407106;ENST00000261755;ENST00000539156	.	.	.	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.697	14.6165	0.68552	0.0:0.0:1.0:0.0	.	.	.	.	X	305;305;235	.	ENSP00000261755:G305X	G	+	1	0	FAH	78254488	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	8.076000	0.89503	1.968000	0.57251	0.591000	0.81541	GGA		0.562	FAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291392.2		Nonsense_Mutation	7	101	1	0	0.00198382	0.00967502	7	101				
RGS11	8786	broad.mit.edu	37	16	319529	319529	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:319529G>A	ENST00000397770.3	-	16	1279	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	RGS11_ENST00000316163.5_Missense_Mutation_p.A400V|ITFG3_ENST00000600536.1_3'UTR|ITFG3_ENST00000442458.2_3'UTR|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Missense_Mutation_p.A410V			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	421					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGGGATCCCAGCCTCTGCCAG	0.652																																						uc002cgj.1		NA																	0				lung(1)|pancreas(1)	2						c.(1261-1263)GCT>GTT		regulator of G-protein signalling 11 isoform 1							66.0	63.0	64.0					16																	319529		2203	4300	6503	SO:0001583	missense	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:319529G>A	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.1262C>T	16.37:g.319529G>A	ENSP00000380876:p.Ala421Val					ITFG3_uc010uud.1_RNA|RGS11_uc002cgi.1_Missense_Mutation_p.A400V|RGS11_uc010bqs.1_Missense_Mutation_p.A410V|RGS11_uc002cgk.1_Missense_Mutation_p.A237V	p.A421V	NM_183337	NP_899180	O94810	RGS11_HUMAN			16	1265	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	421					O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	ENST00000397770.3	37	c.1262C>T	CCDS42088.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252658	0.59212	.	.	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.30981	1.53;1.54;1.51	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	T	0.62506	-0.6840	10	0.72032	D	0.01	-2.8806	15.6205	0.76802	0.0:0.0:1.0:0.0	.	410;421;421	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	V	421;400;410	ENSP00000380876:A421V;ENSP00000319069:A400V;ENSP00000352778:A410V	ENSP00000319069:A400V	A	-	2	0	RGS11	259530	1.000000	0.71417	0.046000	0.18839	0.062000	0.15995	8.819000	0.91997	2.009000	0.58944	0.462000	0.41574	GCT		0.652	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			16	15	0	0	0	0	16	15				
IFT140	9742	broad.mit.edu	37	16	1561083	1561083	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:1561083C>T	ENST00000426508.2	-	31	4614	c.4251G>A	c.(4249-4251)ccG>ccA	p.P1417P	IFT140_ENST00000361339.5_Silent_p.P611P|LA16c-385E7.1_ENST00000566922.1_lincRNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1417					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCACGGCCTGCGGGCTCACGT	0.662																																						uc002cmb.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(4249-4251)CCG>CCA		intraflagellar transport 140							35.0	32.0	33.0					16																	1561083		2197	4298	6495	SO:0001819	synonymous_variant	9742							g.chr16:1561083C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.4251G>A	16.37:g.1561083C>T						IFT140_uc002clz.2_Silent_p.P1030P	p.P1417P	NM_014714	NP_055529	Q96RY7	IF140_HUMAN			31	4613	-		Hepatocellular(780;0.219)	1417					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.4251G>A	CCDS10439.1																																																																																				0.662	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		6	8	0	0	0	0	6	8				
CIITA	4261	broad.mit.edu	37	16	10995979	10995979	+	Missense_Mutation	SNP	C	C	T	rs149076617		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:10995979C>T	ENST00000324288.8	+	7	699	c.566C>T	c.(565-567)gCg>gTg	p.A189V	CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	189					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCACTGCCTGCGCTGTTCAAC	0.622			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3		NA		Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		0				central_nervous_system(1)	1						c.(565-567)GCG>GTG		class II transactivator		C	VAL/ALA	1,4393	2.1+/-5.4	0,1,2196	58.0	61.0	60.0		566	2.1	0.0	16	dbSNP_134	60	0,8600		0,0,4300	no	missense	CIITA	NM_000246.3	64	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	189/1131	10995979	1,12993	2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10995979C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.566C>T	16.37:g.10995979C>T	ENSP00000316328:p.Ala189Val					CIITA_uc002daj.3_Missense_Mutation_p.A190V|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.A189V|CIITA_uc002dah.2_Intron|CIITA_uc010bup.1_Missense_Mutation_p.A189V	p.A189V	NM_000246	NP_000237	P33076	C2TA_HUMAN			7	699	+			189					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.566C>T	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383423	0.25031	2.28E-4	0.0	ENSG00000179583	ENST00000324288;ENST00000537380	T	0.74737	-0.87	4.52	2.08	0.27032	.	.	.	.	.	T	0.60637	0.2284	L	0.46157	1.445	0.09310	N	1	B;P;P;B	0.34587	0.296;0.458;0.458;0.027	B;B;B;B	0.21917	0.036;0.037;0.037;0.007	T	0.54309	-0.8313	9	0.62326	D	0.03	.	5.915	0.19050	0.0:0.7012:0.0:0.2988	.	189;189;189;189	F5H2J4;A0N0N9;P33076;Q96KL4	.;.;C2TA_HUMAN;.	V	189	ENSP00000316328:A189V	ENSP00000316328:A189V	A	+	2	0	CIITA	10903480	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	0.594000	0.24014	0.757000	0.33036	0.563000	0.77884	GCG		0.622	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		8	78	0	0	0	0	8	78				
KIAA0430	9665	broad.mit.edu	37	16	15715663	15715663	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:15715663A>G	ENST00000396368.3	-	12	2772	c.2566T>C	c.(2566-2568)Tac>Cac	p.Y856H	KIAA0430_ENST00000551742.1_Missense_Mutation_p.Y856H|KIAA0430_ENST00000540441.2_Missense_Mutation_p.Y691H|KIAA0430_ENST00000548025.1_Missense_Mutation_p.Y853H|KIAA0430_ENST00000602337.1_Missense_Mutation_p.Y853H|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Y525H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	856	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CCAATTTTGTATCTGTGGAGG	0.458																																						uc002ddr.2		NA																	0					0						c.(2566-2568)TAC>CAC		limkain b1							144.0	131.0	135.0					16																	15715663		1891	4122	6013	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15715663A>G	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.2566T>C	16.37:g.15715663A>G	ENSP00000379654:p.Tyr856His					KIAA0430_uc002ddq.2_Missense_Mutation_p.Y690H|KIAA0430_uc010uzv.1_Missense_Mutation_p.Y852H|KIAA0430_uc010uzw.1_Missense_Mutation_p.Y855H	p.Y856H	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN			12	2759	-			855			RRM.		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.2566T>C	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	A	13.14	2.149011	0.37923	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.72	3.42	0.39159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.347767	0.31123	N	0.008214	T	0.42494	0.1205	L	0.31294	0.92	0.43103	D	0.994798	B;B;B;B	0.16166	0.007;0.016;0.016;0.009	B;B;B;B	0.21546	0.012;0.035;0.035;0.021	T	0.14476	-1.0471	9	0.20046	T	0.44	.	10.1571	0.42829	0.8636:0.0:0.1364:0.0	.	855;853;852;855	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	H	856;691;855;525;853;856;703	.	ENSP00000315718:Y855H	Y	-	1	0	KIAA0430	15623164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.173000	0.50839	0.421000	0.25980	0.533000	0.62120	TAC		0.458	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		25	40	0	0	0	0	25	40				
CDH11	1009	broad.mit.edu	37	16	65026844	65026844	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:65026844G>A	ENST00000268603.4	-	5	1232	c.617C>T	c.(616-618)cCc>cTc	p.P206L	CDH11_ENST00000566827.1_Missense_Mutation_p.P80L|CDH11_ENST00000394156.3_Missense_Mutation_p.P206L	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGAAAAATAGGGTTGTCCTTC	0.443			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(616-618)CCC>CTC		cadherin 11, type 2 preproprotein							165.0	128.0	140.0					16																	65026844		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65026844G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.617C>T	16.37:g.65026844G>A	ENSP00000268603:p.Pro206Leu	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.P206L|CDH11_uc010vin.1_Missense_Mutation_p.P80L	p.P206L	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	5	1051	-		Ovarian(137;0.0973)	206			Cadherin 2.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.617C>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970922	0.92919	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.51325	0.71;0.71	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.168407	0.53938	D	0.000053	T	0.65176	0.2666	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.975;0.992	T	0.64521	-0.6388	10	0.87932	D	0	.	19.5634	0.95382	0.0:0.0:1.0:0.0	.	206;206	P55287-2;P55287	.;CAD11_HUMAN	L	206;206;189	ENSP00000268603:P206L;ENSP00000377711:P206L	ENSP00000268603:P206L	P	-	2	0	CDH11	63584345	1.000000	0.71417	0.959000	0.39883	0.713000	0.41058	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	CCC		0.443	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		5	52	0	0	0	0	5	52				
SDR42E1	93517	broad.mit.edu	37	16	82032990	82032990	+	Missense_Mutation	SNP	C	C	A	rs201484507		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr16:82032990C>A	ENST00000328945.5	-	3	1035	c.908G>T	c.(907-909)cGa>cTa	p.R303L	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	303					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GTTGTAGAGTCGACCCAAAAT	0.463																																						uc002fgu.2		NA																	0					0						c.(907-909)CGA>CTA		short chain dehydrogenase/reductase family 42E,							78.0	76.0	76.0					16																	82032990		1929	4133	6062	SO:0001583	missense	93517				steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	g.chr16:82032990C>A	AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.908G>T	16.37:g.82032990C>A	ENSP00000332407:p.Arg303Leu						p.R303L	NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN			3	1036	-			303					B2RDS1|Q9P0D1	Missense_Mutation	SNP	ENST00000328945.5	37	c.908G>T	CCDS42205.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381021	0.24944	.	.	ENSG00000184860	ENST00000328945	D	0.84800	-1.9	5.24	4.29	0.51040	.	0.337981	0.30483	N	0.009537	T	0.78342	0.4268	L	0.54965	1.715	0.09310	N	1	B	0.31931	0.347	B	0.27608	0.081	T	0.68812	-0.5310	10	0.41790	T	0.15	-5.8892	6.9652	0.24619	0.0:0.6978:0.144:0.1583	.	303	Q8WUS8	D42E1_HUMAN	L	303	ENSP00000332407:R303L	ENSP00000332407:R303L	R	-	2	0	SDR42E1	80590491	0.000000	0.05858	0.010000	0.14722	0.981000	0.71138	-0.115000	0.10741	1.204000	0.43247	0.655000	0.94253	CGA		0.463	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388081.2	NM_145168		23	21	1	0	4.4e-07	2.35e-06	23	21				
CAMTA2	23125	broad.mit.edu	37	17	4883671	4883671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:4883671C>T	ENST00000348066.3	-	9	1069	c.946G>A	c.(946-948)Ggg>Agg	p.G316R	CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000414043.3_Missense_Mutation_p.G339R|CAMTA2_ENST00000572543.1_Missense_Mutation_p.G321R|CAMTA2_ENST00000361571.5_Missense_Mutation_p.G315R|CAMTA2_ENST00000381311.5_Missense_Mutation_p.G318R|CAMTA2_ENST00000358183.4_Missense_Mutation_p.G316R	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	316					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAAGAACCCCCTCGAGAAGTG	0.592											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gah.1		NA																	0				ovary(1)	1						c.(946-948)GGG>AGG		calmodulin binding transcription activator 2							37.0	37.0	37.0					17																	4883671		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883671C>T	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.946G>A	17.37:g.4883671C>T	ENSP00000321813:p.Gly316Arg		OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622	CAMTA2_uc010cku.1_Missense_Mutation_p.G339R|CAMTA2_uc002gag.1_Missense_Mutation_p.G315R|CAMTA2_uc002gai.1_Missense_Mutation_p.G318R|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.1_Missense_Mutation_p.G129R	p.G316R	NM_015099	NP_055914	O94983	CMTA2_HUMAN			9	1054	-			316					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.946G>A	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.517272	0.64634	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.59	3.62	0.41486	.	0.376195	0.25442	N	0.030650	T	0.48960	0.1529	N	0.24115	0.695	0.32744	N	0.507327	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.999	T	0.58222	-0.7674	10	0.62326	D	0.03	-10.6538	5.6835	0.17790	0.1924:0.7083:0.0:0.0993	.	339;318;316;315	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	R	339;318;315;316;316	ENSP00000412886:G339R;ENSP00000370712:G318R;ENSP00000354828:G315R;ENSP00000350910:G316R;ENSP00000321813:G316R	ENSP00000321813:G316R	G	-	1	0	CAMTA2	4824395	0.962000	0.33011	1.000000	0.80357	0.973000	0.67179	1.780000	0.38634	1.156000	0.42514	0.655000	0.94253	GGG		0.592	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		25	15	0	0	0	0	25	15				
JUP	3728	broad.mit.edu	37	17	39927914	39927914	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:39927914C>G	ENST00000393931.3	-	2	311	c.193G>C	c.(193-195)Gtg>Ctg	p.V65L	JUP_ENST00000310706.5_Missense_Mutation_p.V65L|JUP_ENST00000540235.1_Missense_Mutation_p.V65L|JUP_ENST00000393930.1_Missense_Mutation_p.V65L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	65					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CTGGGGGGCACCCCCTGGGTG	0.612																																					Colon(16;42 520 6044 17852 28530)	uc002hxq.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(193-195)GTG>CTG		junction plakoglobin							60.0	65.0	63.0					17																	39927914		2203	4300	6503	SO:0001583	missense	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39927914C>G	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.193G>C	17.37:g.39927914C>G	ENSP00000377508:p.Val65Leu					JUP_uc010wfs.1_Missense_Mutation_p.V65L|JUP_uc002hxr.2_Missense_Mutation_p.V65L|JUP_uc002hxs.2_Missense_Mutation_p.V65L	p.V65L	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	2	470	-		Breast(137;0.000162)	65					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Missense_Mutation	SNP	ENST00000393931.3	37	c.193G>C	CCDS11407.1	.	.	.	.	.	.	.	.	.	.	C	4.980	0.181997	0.09495	.	.	ENSG00000173801	ENST00000540235;ENST00000393930;ENST00000310706;ENST00000393931;ENST00000449889;ENST00000437187;ENST00000420370;ENST00000424457;ENST00000437369	T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	4.68	3.71	0.42584	.	0.704881	0.12866	N	0.432696	T	0.21103	0.0508	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.12156	0.007;0.0	T	0.20075	-1.0286	10	0.19590	T	0.45	-7.4584	7.4768	0.27380	0.0:0.7408:0.1684:0.0908	.	65;65	B4DE59;P14923	.;PLAK_HUMAN	L	65	ENSP00000441751:V65L;ENSP00000377507:V65L;ENSP00000311113:V65L;ENSP00000377508:V65L;ENSP00000389886:V65L;ENSP00000394146:V65L;ENSP00000411449:V65L;ENSP00000401034:V65L;ENSP00000409948:V65L	ENSP00000311113:V65L	V	-	1	0	JUP	37181440	0.021000	0.18746	0.195000	0.23364	0.185000	0.23345	1.190000	0.32126	1.202000	0.43218	0.542000	0.68232	GTG		0.612	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1			17	37	0	0	0	0	17	37				
KANSL1	284058	broad.mit.edu	37	17	44110827	44110827	+	Splice_Site	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:44110827C>T	ENST00000262419.6	-	12	3137		c.e12-1		KANSL1_ENST00000575318.1_Splice_Site|RP11-669E14.6_ENST00000570454.1_RNA|KANSL1_ENST00000432791.1_Splice_Site|KANSL1_ENST00000572904.1_Splice_Site|KANSL1_ENST00000393476.3_Splice_Site|KANSL1_ENST00000574590.1_Splice_Site	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CTCCCGCCAGCTGCAAAACCA	0.502																																						uc002ikb.2		NA																	0				skin(2)	2						c.e11-1		hypothetical protein LOC284058							68.0	58.0	62.0					17																	44110827		2203	4300	6503	SO:0001630	splice_region_variant	284058					MLL1 complex	protein binding	g.chr17:44110827C>T	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.2667-1G>A	17.37:g.44110827C>T						KIAA1267_uc002ikc.2_Splice_Site_p.S889_splice|KIAA1267_uc002ikd.2_Splice_Site_p.S889_splice|KIAA1267_uc010dav.2_Splice_Site_p.S888_splice|KIAA1267_uc010wkb.1_Splice_Site_p.S220_splice|KIAA1267_uc010wkc.1_Splice_Site_p.S157_splice	p.S889_splice	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN			11	2752	-		Melanoma(429;0.211)						A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Splice_Site	SNP	ENST00000262419.6	37	c.2667_splice	CCDS11503.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080506	0.76528	.	.	ENSG00000120071	ENST00000262419;ENST00000432791;ENST00000393476	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8667	0.86030	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1267	41466674	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.111000	0.64628	2.770000	0.95276	0.655000	0.94253	.		0.502	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443	Intron	11	24	0	0	0	0	11	24				
P4HB	5034	broad.mit.edu	37	17	79804356	79804356	+	Silent	SNP	C	C	T	rs201567654		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr17:79804356C>T	ENST00000331483.4	-	7	1227	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	P4HB_ENST00000472244.1_5'Flank|P4HB_ENST00000576390.1_Intron|RP11-498C9.2_ENST00000576784.1_RNA|P4HB_ENST00000439918.2_Silent_p.T291T	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	335					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein folding (GO:0006457)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|procollagen-proline 4-dioxygenase complex (GO:0016222)	poly(A) RNA binding (GO:0044822)|procollagen-proline 4-dioxygenase activity (GO:0004656)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TCCTCTCTGCCGTCAGCTCCT	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17684	0.0		0.0	False		,,,				2504	0.0				Colon(49;444 983 1296 7887 42561)	uc002kbn.1		NA																	0					0						c.(1003-1005)ACG>ACA		prolyl 4-hydroxylase, beta subunit precursor							119.0	88.0	99.0					17																	79804356		2203	4300	6503	SO:0001819	synonymous_variant	5034				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr17:79804356C>T	J02783	CCDS11787.1	17q25	2011-10-19	2008-12-09		ENSG00000185624	ENSG00000185624	1.14.11.2, 5.3.4.1	"""Protein disulfide isomerases"""	8548	protein-coding gene	gene with protein product	"""protein disulfide isomerase-associated 1"", ""protein disulfide isomerase family A, member 1"", ""collagen prolyl 4-hydroxylase beta"""	176790	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase; thyroid hormone binding protein p55)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide (protein disulfide isomerase-associated 1)"", ""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide"""	PO4DB, ERBA2L		8111381	Standard	NM_000918		Approved	PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta	uc002kbn.1	P07237	OTTHUMG00000150269	ENST00000331483.4:c.1005G>A	17.37:g.79804356C>T						P4HB_uc002kbl.1_Silent_p.T12T|P4HB_uc002kbm.1_Silent_p.T12T	p.T335T	NM_000918	NP_000909	P07237	PDIA1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)		7	1202	-	all_neural(118;0.0878)|Ovarian(332;0.12)		335					B2RDQ2|P30037|P32079|Q15205|Q6LDE5	Silent	SNP	ENST00000331483.4	37	c.1005G>A	CCDS11787.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	0.061	-1.223329	0.01530	.	.	ENSG00000185624	ENST00000415593;ENST00000439918	.	.	.	5.47	-10.9	0.00192	.	.	.	.	.	T	0.35068	0.0919	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63633	-0.6593	4	.	.	.	.	6.7927	0.23709	0.2423:0.5286:0.0611:0.1681	.	.	.	.	S	101;122	.	.	G	-	1	0	P4HB	77397645	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-7.505000	0.00035	-4.994000	0.00025	-2.220000	0.00296	GGC		0.632	P4HB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317250.3	NM_000918		36	98	0	0	0	0	36	98				
SLC14A2	8170	broad.mit.edu	37	18	43249308	43249308	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr18:43249308A>C	ENST00000255226.6	+	16	2890	c.2074A>C	c.(2074-2076)Aag>Cag	p.K692Q	SLC14A2_ENST00000586448.1_Missense_Mutation_p.K692Q|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.K169Q	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	692					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCTTCAGCAAGTGGGACCT	0.552																																						uc010dnj.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2074-2076)AAG>CAG		solute carrier family 14 (urea transporter),							181.0	168.0	172.0					18																	43249308		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43249308A>C	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2074A>C	18.37:g.43249308A>C	ENSP00000255226:p.Lys692Gln					SLC14A2_uc002lbe.2_Missense_Mutation_p.K692Q	p.K692Q	NM_007163	NP_009094	Q15849	UT2_HUMAN			17	2395	+			692					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2074A>C	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.664064	0.88251	.	.	ENSG00000132874	ENST00000255226	T	0.53423	0.62	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000019	T	0.70159	0.3192	M	0.87682	2.9	0.80722	D	1	P	0.50066	0.931	P	0.59171	0.853	T	0.74682	-0.3583	10	0.52906	T	0.07	-26.0798	16.0916	0.81094	1.0:0.0:0.0:0.0	.	692	Q15849	UT2_HUMAN	Q	692	ENSP00000255226:K692Q	ENSP00000255226:K692Q	K	+	1	0	SLC14A2	41503306	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.228000	0.72288	2.186000	0.69663	0.533000	0.62120	AAG		0.552	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			8	132	0	0	0	0	8	132				
SBNO2	22904	broad.mit.edu	37	19	1105714	1105714	+	IGR	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:1105714G>C	ENST00000361757.3	-	0	4922				GPX4_ENST00000354171.8_Missense_Mutation_p.D128H|GPX4_ENST00000589115.1_Missense_Mutation_p.D128H	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCAAATTCGATATGTTCAG	0.587																																						uc010xgg.1		NA																	0					0						c.(382-384)GAT>CAT		glutathione peroxidase 4 isoform A precursor	Glutathione(DB00143)						50.0	55.0	54.0					19																	1105714		2077	4190	6267	SO:0001628	intergenic_variant	2879				multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity	g.chr19:1105714G>C	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9			19.37:g.1105714G>C						GPX4_uc010xgh.1_Missense_Mutation_p.D128H|GPX4_uc010xgi.1_Missense_Mutation_p.D165H	p.D128H	NM_002085	NP_002076	P36969	GPX4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	489	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	128					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.382G>C	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662403	0.47572	.	.	ENSG00000167468	ENST00000354171	T	0.03889	3.77	4.56	3.52	0.40303	Thioredoxin-like fold (2);	0.212263	0.36101	N	0.002786	T	0.21921	0.0528	M	0.87038	2.855	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.69654	0.881;0.965;0.965	T	0.01242	-1.1408	10	0.66056	D	0.02	.	11.2737	0.49155	0.0912:0.0:0.9088:0.0	.	101;128;128	P36969-2;Q6PI42;P36969	.;.;GPX4_HUMAN	H	128	ENSP00000346103:D128H	ENSP00000346103:D128H	D	+	1	0	GPX4	1056714	1.000000	0.71417	0.454000	0.27019	0.074000	0.17049	6.476000	0.73587	0.911000	0.36747	-0.136000	0.14681	GAT		0.587	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		5	13	0	0	0	0	5	13				
MUC16	94025	broad.mit.edu	37	19	9045870	9045870	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:9045870C>A	ENST00000397910.4	-	5	35964	c.35761G>T	c.(35761-35763)Gaa>Taa	p.E11921*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11923	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGGTTTCTGTGTTCCAG	0.498																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(35761-35763)GAA>TAA		mucin 16							115.0	109.0	111.0					19																	9045870		1912	4122	6034	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9045870C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.35761G>T	19.37:g.9045870C>A	ENSP00000381008:p.Glu11921*						p.E11921*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	35965	-			11923			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.35761G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	C	61	54.739112	0.99989	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.79	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.7292	0.28777	0.0:0.7136:0.1846:0.1018	.	.	.	.	X	11921	.	ENSP00000381008:E11921X	E	-	1	0	MUC16	8906870	0.001000	0.12720	0.006000	0.13384	0.006000	0.05464	0.067000	0.14510	0.189000	0.20188	-1.164000	0.01763	GAA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		50	92	1	0	1.07e-20	6.14e-20	50	92				
ZNF20	7568	broad.mit.edu	37	19	12244792	12244792	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:12244792C>T	ENST00000334213.5	-	4	433	c.209G>A	c.(208-210)aGa>aAa	p.R70K	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000485451.1_5'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	70	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|kidney(1)|lung(6)	8						GAGTTTCTCTCTCATAAGACT	0.413																																						uc002mtf.1		NA																	0					0						c.(208-210)AGA>AAA		zinc finger protein 20							69.0	63.0	65.0					19																	12244792		1884	4109	5993	SO:0001583	missense	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12244792C>T	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.209G>A	19.37:g.12244792C>T	ENSP00000335437:p.Arg70Lys					ZNF20_uc002mte.1_Missense_Mutation_p.R35K|ZNF20_uc002mtg.1_Missense_Mutation_p.R70K	p.R70K	NM_021143	NP_066966	P17024	ZNF20_HUMAN			4	352	-			70			KRAB.		Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	c.209G>A	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.366847	0.01225	.	.	ENSG00000132010	ENST00000334213;ENST00000292241;ENST00000418866	T;T	0.05139	3.49;6.79	0.94	-1.88	0.07713	Krueppel-associated box (1);	.	.	.	.	T	0.02342	0.0072	N	0.11789	0.175	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45160	-0.9280	9	0.05959	T	0.93	.	1.8501	0.03167	0.3889:0.3186:0.0:0.2925	.	70	P17024	ZNF20_HUMAN	K	70;70;67	ENSP00000335437:R70K;ENSP00000390115:R67K	ENSP00000292241:R70K	R	-	2	0	ZNF20	12105792	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	0.436000	0.21526	-0.885000	0.03971	-0.657000	0.03884	AGA		0.413	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1	NM_021143		19	54	0	0	0	0	19	54				
CACNA1A	773	broad.mit.edu	37	19	13345741	13345741	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:13345741A>G	ENST00000360228.5	-	34	5242	c.5243T>C	c.(5242-5244)cTc>cCc	p.L1748P	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1749P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1749					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TCACCGGAAGAGAAGCATGAG	0.522											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010dze.2		NA																	0				large_intestine(2)	2						c.(5245-5247)CTC>CCC		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						117.0	120.0	119.0					19																	13345741		1983	4164	6147	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13345741A>G	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5243T>C	19.37:g.13345741A>G	ENSP00000353362:p.Leu1748Pro		OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	686	CACNA1A_uc010xnd.1_Missense_Mutation_p.L454P|CACNA1A_uc002mwx.3_Missense_Mutation_p.L454P|CACNA1A_uc010dzc.2_Missense_Mutation_p.L1274P|CACNA1A_uc002mwy.3_Missense_Mutation_p.L1748P|CACNA1A_uc002mwv.3_Missense_Mutation_p.L265P	p.L1749P	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		34	5482	-			1749			Extracellular (Potential).|IV.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5246T>C	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	A	17.16	3.318420	0.60524	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.97731	-4.51	5.18	5.18	0.71444	Ion transport (1);	0.100426	0.46442	D	0.000289	D	0.99251	0.9739	H	0.98295	4.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.991;0.991;1.0;0.995	D	0.98664	1.0685	10	0.87932	D	0	.	14.0707	0.64858	1.0:0.0:0.0:0.0	.	1749;1754;1748;1749	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	P	1748;1754;1749;1749	ENSP00000353362:L1748P	ENSP00000317661:L1749P	L	-	2	0	CACNA1A	13206741	1.000000	0.71417	0.997000	0.53966	0.875000	0.50365	9.339000	0.96797	1.963000	0.57068	0.456000	0.33151	CTC		0.522	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		30	80	0	0	0	0	30	80				
CACNA1A	773	broad.mit.edu	37	19	13414674	13414674	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:13414674C>T	ENST00000360228.5	-	16	2010	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E672K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	672					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TACATGACCTCGTTCCAGTCT	0.577																																						uc010dze.2		NA																	0				large_intestine(2)	2						c.(2014-2016)GAG>AAG		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						148.0	152.0	151.0					19																	13414674		2023	4177	6200	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13414674C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2011G>A	19.37:g.13414674C>T	ENSP00000353362:p.Glu671Lys					CACNA1A_uc010dzc.2_Missense_Mutation_p.E197K|CACNA1A_uc002mwy.3_Missense_Mutation_p.E671K|CACNA1A_uc010xne.1_Missense_Mutation_p.E197K	p.E672K	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		16	2250	-			672			Extracellular (Potential).|II.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.2014G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800579	0.50315	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.97529	-4.42	4.58	4.58	0.56647	Ion transport (1);	0.199619	0.41605	D	0.000851	D	0.97832	0.9288	M	0.69185	2.1	0.28973	N	0.889139	P;D;D	0.76494	0.806;0.975;0.999	B;P;D	0.76575	0.245;0.477;0.988	D	0.94618	0.7810	10	0.27785	T	0.31	.	16.302	0.82825	0.0:1.0:0.0:0.0	.	672;672;671	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	671;672;672;672	ENSP00000353362:E671K	ENSP00000317661:E672K	E	-	1	0	CACNA1A	13275674	0.030000	0.19436	1.000000	0.80357	0.990000	0.78478	2.395000	0.44459	2.371000	0.80710	0.591000	0.81541	GAG		0.577	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		14	143	0	0	0	0	14	143				
BRD4	23476	broad.mit.edu	37	19	15366308	15366308	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:15366308C>T	ENST00000263377.2	-	10	2068	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q	BRD4_ENST00000371835.4_Missense_Mutation_p.R616Q|BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.R616Q	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	616	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCTGAGCTGCCGCTTCTCCTC	0.597			T	C15orf55	lethal midline carcinoma of young people																																	uc002nar.2		NA		Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	NUT|C15orf55		lethal midline carcinoma of young people		0				ovary(2)	2						c.(1846-1848)CGG>CAG		bromodomain-containing protein 4 isoform long							123.0	108.0	113.0					19																	15366308		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15366308C>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1847G>A	19.37:g.15366308C>T	ENSP00000263377:p.Arg616Gln					BRD4_uc002nas.2_Missense_Mutation_p.R616Q|BRD4_uc002nat.3_Missense_Mutation_p.R616Q	p.R616Q	NM_058243	NP_490597	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		10	2069	-			616					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.1847G>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395426	0.96009	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.26518	1.73;1.73;1.73	5.08	5.08	0.68730	.	0.000000	0.64402	D	0.000018	T	0.51346	0.1669	M	0.73319	2.225	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.79108	0.992;0.979;0.988	T	0.53165	-0.8477	10	0.56958	D	0.05	-28.0563	17.25	0.87040	0.0:1.0:0.0:0.0	.	616;616;616	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	Q	616	ENSP00000263377:R616Q;ENSP00000360901:R616Q;ENSP00000353112:R616Q	ENSP00000263377:R616Q	R	-	2	0	BRD4	15227308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.368000	0.80403	0.591000	0.81541	CGG		0.597	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		26	95	0	0	0	0	26	95				
NWD1	284434	broad.mit.edu	37	19	16860942	16860942	+	Missense_Mutation	SNP	G	G	A	rs571275303		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:16860942G>A	ENST00000552788.1	+	4	1489	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R	NWD1_ENST00000379808.3_Missense_Mutation_p.G497R|NWD1_ENST00000549814.1_Missense_Mutation_p.G497R|NWD1_ENST00000339803.6_Missense_Mutation_p.G362R|NWD1_ENST00000523826.1_Missense_Mutation_p.G291R|NWD1_ENST00000524140.2_Missense_Mutation_p.G497R			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	497	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCCCTTTCCGGAAACCAAGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16130	0.0		0.0	False		,,,				2504	0.001					uc002neu.3		NA																	0				skin(3)|ovary(2)|pancreas(2)	7						c.(1489-1491)GGA>AGA		RecName: Full=NACHT and WD repeat domain-containing protein 1;							53.0	53.0	53.0					19																	16860942		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860942G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1489G>A	19.37:g.16860942G>A	ENSP00000447224:p.Gly497Arg					NWD1_uc002net.3_Missense_Mutation_p.G362R|NWD1_uc002nev.3_Missense_Mutation_p.G291R	p.G497R			Q149M9	NWD1_HUMAN			6	1911	+			497			NACHT.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1489G>A		.	.	.	.	.	.	.	.	.	.	g	0.436	-0.900753	0.02472	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.85	2.58	0.30949	.	0.400353	0.24652	N	0.036702	T	0.76004	0.3927	L	0.43923	1.385	0.09310	N	1	B;B;D	0.64830	0.141;0.116;0.994	B;B;P	0.58210	0.022;0.023;0.835	T	0.64433	-0.6409	10	0.15499	T	0.54	-3.4893	8.3638	0.32374	0.2136:0.0:0.7864:0.0	.	497;497;362	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	R	362;497;497;497;291;497;362	ENSP00000428579:G497R;ENSP00000447548:G497R;ENSP00000369136:G497R;ENSP00000428955:G291R;ENSP00000447224:G497R;ENSP00000340159:G362R	ENSP00000340159:G362R	G	+	1	0	NWD1	16721942	0.010000	0.17322	0.000000	0.03702	0.023000	0.10783	1.826000	0.39092	0.370000	0.24538	-0.148000	0.13756	GGA		0.632	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		6	93	0	0	0	0	6	93				
GMIP	51291	broad.mit.edu	37	19	19749068	19749068	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:19749068C>T	ENST00000203556.4	-	9	826	c.689G>A	c.(688-690)cGc>cAc	p.R230H	GMIP_ENST00000445806.2_Missense_Mutation_p.R230H|GMIP_ENST00000587238.1_Missense_Mutation_p.R230H|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	230					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCCTGGGAGCGTGCCCGCAG	0.716																																						uc002nnd.2		NA																	0				ovary(1)	1						c.(688-690)CGC>CAC		GEM interacting protein							20.0	21.0	21.0					19																	19749068		2200	4298	6498	SO:0001583	missense	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19749068C>T	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.689G>A	19.37:g.19749068C>T	ENSP00000203556:p.Arg230His					GMIP_uc010xrb.1_Missense_Mutation_p.R230H|GMIP_uc010xrc.1_Missense_Mutation_p.R230H	p.R230H	NM_016573	NP_057657	Q9P107	GMIP_HUMAN			9	806	-			230					A0AVN9|B7ZLZ0	Missense_Mutation	SNP	ENST00000203556.4	37	c.689G>A	CCDS12408.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304723	0.40795	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.42131	0.98;0.98	3.91	3.91	0.45181	.	0.000000	0.43579	D	0.000556	T	0.44030	0.1274	L	0.57536	1.79	0.09310	N	1	B;D;D	0.69078	0.336;0.997;0.997	B;P;P	0.50405	0.008;0.64;0.538	T	0.36817	-0.9732	10	0.49607	T	0.09	-17.7171	7.3084	0.26461	0.0:0.8809:0.0:0.1191	.	230;230;230	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	H	230	ENSP00000203556:R230H;ENSP00000397075:R230H	ENSP00000203556:R230H	R	-	2	0	GMIP	19610068	0.989000	0.36119	0.852000	0.33557	0.145000	0.21501	2.675000	0.46875	2.006000	0.58801	0.491000	0.48974	CGC		0.716	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		13	16	0	0	0	0	13	16				
ZNF14	7561	broad.mit.edu	37	19	19822424	19822424	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:19822424C>T	ENST00000344099.3	-	4	1804	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	556					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TACGGTTTCTCTCCAGTGTGA	0.408																																						uc002nnk.1		NA																	0				ovary(3)	3						c.(1666-1668)GAG>AAG		zinc finger protein 14							80.0	76.0	77.0					19																	19822424		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822424C>T	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1666G>A	19.37:g.19822424C>T	ENSP00000340514:p.Glu556Lys						p.E556K	NM_021030	NP_066358	P17017	ZNF14_HUMAN			4	1820	-		Renal(1328;0.0474)	556					B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1666G>A	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920870	0.92249	.	.	ENSG00000105708	ENST00000344099	T	0.24350	1.86	1.68	1.68	0.24146	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24586	0.0596	L	0.54863	1.705	0.33056	D	0.533439	P	0.47604	0.898	B	0.42188	0.379	T	0.43278	-0.9401	9	0.62326	D	0.03	.	8.892	0.35439	0.0:1.0:0.0:0.0	.	556	P17017	ZNF14_HUMAN	K	556	ENSP00000340514:E556K	ENSP00000340514:E556K	E	-	1	0	ZNF14	19683424	0.088000	0.21588	0.571000	0.28486	0.865000	0.49528	2.776000	0.47709	0.907000	0.36646	0.467000	0.42956	GAG		0.408	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		5	105	0	0	0	0	5	105				
RYR1	6261	broad.mit.edu	37	19	39019040	39019040	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:39019040C>T	ENST00000359596.3	+	74	10919	c.10919C>T	c.(10918-10920)cCc>cTc	p.P3640L	RYR1_ENST00000355481.4_Missense_Mutation_p.P3635L|RYR1_ENST00000360985.3_Missense_Mutation_p.P3640L|AC067969.1_ENST00000597015.1_RNA			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3640	Interaction with CALM.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGTATGACGCCCCTGTACAAC	0.612																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(10918-10920)CCC>CTC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						53.0	49.0	50.0					19																	39019040		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39019040C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10919C>T	19.37:g.39019040C>T	ENSP00000352608:p.Pro3640Leu					RYR1_uc002oiu.2_Missense_Mutation_p.P3635L|RYR1_uc002oiv.1_Missense_Mutation_p.P555L|RYR1_uc010xuf.1_Missense_Mutation_p.P560L	p.P3640L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		74	11049	+	all_cancers(60;7.91e-06)		3640					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.10919C>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055046	0.55325	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97480	-4.39;-4.39;-4.4	4.8	4.8	0.61643	.	0.000000	0.64402	U	0.000002	D	0.98419	0.9474	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.99470	1.0945	10	0.87932	D	0	.	16.7746	0.85548	0.0:1.0:0.0:0.0	.	3640;3635;3640	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	L	3640;3635;3640;560	ENSP00000352608:P3640L;ENSP00000347667:P3635L;ENSP00000354254:P3640L	ENSP00000347667:P3635L	P	+	2	0	RYR1	43710880	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.576000	0.67437	2.504000	0.84457	0.555000	0.69702	CCC		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			7	60	0	0	0	0	7	60				
ADCK4	79934	broad.mit.edu	37	19	41209448	41209448	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:41209448G>A	ENST00000324464.3	-	9	1098	c.797C>T	c.(796-798)gCg>gTg	p.A266V	ADCK4_ENST00000243583.6_Missense_Mutation_p.A225V|ADCK4_ENST00000450541.1_Missense_Mutation_p.A225V	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	266	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CGCCTCACCCGCGGGCAGGGC	0.647																																						uc002oor.2		NA																	0					0						c.(796-798)GCG>GTG		aarF domain containing kinase 4 isoform a							30.0	34.0	33.0					19																	41209448		2200	4298	6498	SO:0001583	missense	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41209448G>A	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.797C>T	19.37:g.41209448G>A	ENSP00000315118:p.Ala266Val					ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.A225V	p.A266V	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		9	1099	-			266			Protein kinase.		Q8TAJ1|Q9HA52	Missense_Mutation	SNP	ENST00000324464.3	37	c.797C>T	CCDS12562.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.915518	0.33815	.	.	ENSG00000123815	ENST00000324464;ENST00000450541;ENST00000243583	T;T;T	0.54866	0.55;0.55;0.55	5.03	4.01	0.46588	ABC-1 (1);Protein kinase-like domain (1);	0.227936	0.43416	D	0.000564	T	0.40473	0.1118	N	0.22421	0.69	0.44155	D	0.996954	B;B	0.31256	0.316;0.15	B;B	0.34824	0.19;0.119	T	0.33904	-0.9850	10	0.66056	D	0.02	-26.9669	10.9886	0.47537	0.0:0.0:0.1651:0.8349	.	266;225	Q96D53;Q96D53-2	ADCK4_HUMAN;.	V	266;225;225	ENSP00000315118:A266V;ENSP00000412839:A225V;ENSP00000243583:A225V	ENSP00000243583:A225V	A	-	2	0	ADCK4	45901288	1.000000	0.71417	0.959000	0.39883	0.021000	0.10359	4.038000	0.57318	0.771000	0.33359	-0.262000	0.10625	GCG		0.647	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		11	5	0	0	0	0	11	5				
ZNF473	25888	broad.mit.edu	37	19	50549349	50549350	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr19:50549349_50549350TC>AG	ENST00000595661.1	+	6	2144_2145	c.1649_1650TC>AG	c.(1648-1650)aTC>aAG	p.I550K	ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Missense_Mutation_p.I550K|ZNF473_ENST00000270617.3_Missense_Mutation_p.I550K|ZNF473_ENST00000445728.3_Missense_Mutation_p.I538K|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	550	Interaction with SLBP/pre-mRNA complex.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGTGGGAAGATCTTGGATCAGA	0.455																																						uc002prn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1648-1650)ATC>AAG		zinc finger protein 473																																				SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549349_50549350TC>AG	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		Exception_encountered	19.37:g.50549349_50549350delinsAG	ENSP00000472808:p.Ile550Lys					ZNF473_uc002prm.2_Missense_Mutation_p.I550K|ZNF473_uc010ybo.1_Missense_Mutation_p.I538K	p.I550K	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	1886_1887	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	550			Interaction with SLBP/pre-mRNA complex.		A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	DNP	ENST00000595661.1	37	c.1649_1650TC>AG	CCDS33077.1																																																																																				0.455	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		5	32	0	0	0	0	5	32				
NCOA1	8648	broad.mit.edu	37	2	24905921	24905921	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:24905921G>C	ENST00000406961.1	+	8	1108	c.456G>C	c.(454-456)atG>atC	p.M152I	NCOA1_ENST00000405141.1_Missense_Mutation_p.M152I|NCOA1_ENST00000348332.3_Missense_Mutation_p.M152I|NCOA1_ENST00000395856.3_Missense_Mutation_p.M152I|NCOA1_ENST00000538539.1_Missense_Mutation_p.M152I|NCOA1_ENST00000288599.5_Missense_Mutation_p.M152I|NCOA1_ENST00000407230.1_Start_Codon_SNP_p.M1I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	152	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAATTAATGAATACGAGCG	0.378			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(454-456)ATG>ATC		nuclear receptor coactivator 1 isoform 1							91.0	87.0	88.0					2																	24905921		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24905921G>C	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.456G>C	2.37:g.24905921G>C	ENSP00000385216:p.Met152Ile					NCOA1_uc010eye.2_Missense_Mutation_p.M152I|NCOA1_uc002rfi.2_Missense_Mutation_p.M1I|NCOA1_uc002rfj.2_Missense_Mutation_p.M152I|NCOA1_uc002rfl.2_Missense_Mutation_p.M152I	p.M152I	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			6	714	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		152			PAS.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.456G>C	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382125	0.82792	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.13196	2.61;2.61;4.32;2.61;2.61;2.61;2.61	5.55	5.55	0.83447	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.24624	0.0597	N	0.17082	0.46	0.80722	D	1	P;B;B;D	0.53312	0.94;0.206;0.198;0.959	P;B;B;D	0.68192	0.844;0.291;0.31;0.956	T	0.05903	-1.0857	10	0.66056	D	0.02	.	19.0969	0.93255	0.0:0.0:1.0:0.0	.	152;152;152;1	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	I	152;152;1;152;152;152;152	ENSP00000385216:M152I;ENSP00000385097:M152I;ENSP00000385195:M1I;ENSP00000444039:M152I;ENSP00000320940:M152I;ENSP00000288599:M152I;ENSP00000379197:M152I	ENSP00000288599:M152I	M	+	3	0	NCOA1	24759425	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.670000	0.74467	2.616000	0.88540	0.655000	0.94253	ATG		0.378	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		3	42	0	0	0	0	3	42				
PSME4	23198	broad.mit.edu	37	2	54133994	54133994	+	Silent	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:54133994T>C	ENST00000404125.1	-	25	2851	c.2796A>G	c.(2794-2796)aaA>aaG	p.K932K	PSME4_ENST00000421748.2_Silent_p.K76K	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	932					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TATGTTGTTTTTTCCCATGGA	0.328																																						uc002rxp.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2794-2796)AAA>AAG		proteasome (prosome, macropain) activator							66.0	65.0	65.0					2																	54133994		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54133994T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2796A>G	2.37:g.54133994T>C						PSME4_uc010yop.1_Silent_p.K818K|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.K307K|PSME4_uc010fbv.1_Silent_p.K76K	p.K932K	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		25	2852	-			932					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.2796A>G	CCDS33197.2																																																																																				0.328	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		3	64	0	0	0	0	3	64				
TMSB10	9168	broad.mit.edu	37	2	85133166	85133166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:85133166G>A	ENST00000233143.4	+	2	134	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_021103.3	NP_066926.1	P63313	TYB10_HUMAN	thymosin beta 10	9					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)	1						AGACATGGGGGAAATCGCCAG	0.582																																						uc002sow.1		NA																	0					0						c.(25-27)GAA>AAA		thymosin, beta 10							61.0	65.0	64.0					2																	85133166		2203	4300	6503	SO:0001583	missense	9168				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chr2:85133166G>A		CCDS1970.1	2p11.2	2008-02-25	2008-02-25		ENSG00000034510	ENSG00000034510			11879	protein-coding gene	gene with protein product		188399				3365256, 10487837	Standard	NM_021103		Approved	TB10	uc002sow.1	P63313	OTTHUMG00000130027	ENST00000233143.4:c.25G>A	2.37:g.85133166G>A	ENSP00000233143:p.Glu9Lys						p.E9K	NM_021103	NP_066926	P63313	TYB10_HUMAN			2	120	+			9					P13472|Q596K9	Missense_Mutation	SNP	ENST00000233143.4	37	c.25G>A	CCDS1970.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218762	0.58560	.	.	ENSG00000034510	ENST00000233143	T	0.60424	0.19	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000001	T	0.56775	0.2008	.	.	.	0.36517	D	0.869939	P	0.43826	0.818	B	0.41374	0.355	T	0.69826	-0.5040	9	0.87932	D	0	.	16.4497	0.83976	0.0:0.0:1.0:0.0	.	9	P63313	TYB10_HUMAN	K	9	ENSP00000233143:E9K	ENSP00000233143:E9K	E	+	1	0	TMSB10	84986677	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	6.461000	0.73522	2.486000	0.83907	0.561000	0.74099	GAA		0.582	TMSB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252302.2	NM_021103		23	31	0	0	0	0	23	31				
LRP1B	53353	broad.mit.edu	37	2	141093261	141093261	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:141093261C>T	ENST00000389484.3	-	78	13010	c.12039G>A	c.(12037-12039)ctG>ctA	p.L4013L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4013					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGGGCCATTCAGCTGCCCTA	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12037-12039)CTG>CTA		low density lipoprotein-related protein 1B							143.0	138.0	140.0					2																	141093261		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141093261C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12039G>A	2.37:g.141093261C>T		TSP Lung(27;0.18)					p.L4013L	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	78	13011	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4013			Extracellular (Potential).|LDL-receptor class B 34.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.12039G>A	CCDS2182.1																																																																																				0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	156	0	0	0	0	7	156				
XIRP2	129446	broad.mit.edu	37	2	168101029	168101029	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:168101029T>C	ENST00000409195.1	+	9	3216	c.3127T>C	c.(3127-3129)Tct>Cct	p.S1043P	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1043P|XIRP2_ENST00000409273.1_Missense_Mutation_p.S821P|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	868					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAGAGGAATATCTGCTCAAGA	0.353																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(3127-3129)TCT>CCT		xin actin-binding repeat containing 2 isoform 1							49.0	46.0	47.0					2																	168101029		1818	4074	5892	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168101029T>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3127T>C	2.37:g.168101029T>C	ENSP00000386840:p.Ser1043Pro					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S868P|XIRP2_uc010fpq.2_Missense_Mutation_p.S821P|XIRP2_uc010fpr.2_Intron	p.S1043P	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	3145	+			868					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.3127T>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.621377	0.66787	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03717	3.83;3.83;3.83	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.00052	-1.2188	10	0.87932	D	0	-15.8913	15.6264	0.76863	0.0:0.0:0.0:1.0	.	868;868;821	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	P	1043;1043;821	ENSP00000386840:S1043P;ENSP00000295237:S1043P;ENSP00000387255:S821P	ENSP00000295237:S1043P	S	+	1	0	XIRP2	167809275	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.900000	0.63252	2.333000	0.79357	0.533000	0.62120	TCT		0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		9	19	0	0	0	0	9	19				
XIRP2	129446	broad.mit.edu	37	2	168102825	168102825	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:168102825A>G	ENST00000409195.1	+	9	5012	c.4923A>G	c.(4921-4923)ttA>ttG	p.L1641L	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L1641L|XIRP2_ENST00000409273.1_Silent_p.L1419L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1466					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTCAATTATTAAACAGATCAA	0.328																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(4921-4923)TTA>TTG		xin actin-binding repeat containing 2 isoform 1							44.0	42.0	43.0					2																	168102825		1842	4073	5915	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102825A>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4923A>G	2.37:g.168102825A>G						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.L1466L|XIRP2_uc010fpq.2_Silent_p.L1419L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank	p.L1641L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	4941	+			1466					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.4923A>G	CCDS42769.1																																																																																				0.328	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	30	0	0	0	0	8	30				
LRP2	4036	broad.mit.edu	37	2	170062018	170062018	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:170062018C>A	ENST00000263816.3	-	41	7971	c.7686G>T	c.(7684-7686)gaG>gaT	p.E2562D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2562					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGAGAAGGTCCTCTTCATAGT	0.483																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(7684-7686)GAG>GAT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						119.0	111.0	113.0					2																	170062018		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170062018C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7686G>T	2.37:g.170062018C>A	ENSP00000263816:p.Glu2562Asp						p.E2562D	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	41	7899	-			2562			LDL-receptor class B 27.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7686G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	8.254	0.809561	0.16537	.	.	ENSG00000081479	ENST00000263816	D	0.90955	-2.76	6.03	-12.0	0.00017	Six-bladed beta-propeller, TolB-like (1);	0.650129	0.16786	N	0.199585	T	0.72819	0.3508	L	0.37561	1.115	0.44702	D	0.997697	B	0.06786	0.001	B	0.08055	0.003	T	0.61491	-0.7052	10	0.10377	T	0.69	.	0.6484	0.00822	0.2943:0.1502:0.1416:0.4139	.	2562	P98164	LRP2_HUMAN	D	2562	ENSP00000263816:E2562D	ENSP00000263816:E2562D	E	-	3	2	LRP2	169770264	0.001000	0.12720	0.000000	0.03702	0.541000	0.35023	-1.117000	0.03283	-2.254000	0.00697	0.655000	0.94253	GAG		0.483	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		11	100	1	0	0.00136819	0.0067364	11	100				
TTN	7273	broad.mit.edu	37	2	179435389	179435389	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:179435389C>G	ENST00000591111.1	-	276	70771	c.70547G>C	c.(70546-70548)cGa>cCa	p.R23516P	TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25157P|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16284P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16092P|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16217P|TTN_ENST00000342992.6_Missense_Mutation_p.R22589P|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23516	Ig-like 119.				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)	p.R22587L(1)|p.R16284L(1)|p.R16092L(1)		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)			TATTTCTAATCGAGCTGTGTT	0.413																																						uc010zfg.1		NA																	3	Substitution - Missense(3)		stomach(3)	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.(67765-67767)CGA>CCA		titin isoform N2-A							171.0	156.0	161.0					2																	179435389		1913	4114	6027	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435389C>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.70547G>C	2.37:g.179435389C>G	ENSP00000465570:p.Arg23516Pro					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16284P|TTN_uc010zfi.1_Missense_Mutation_p.R16217P|TTN_uc010zfj.1_Missense_Mutation_p.R16092P	p.R22589P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	67990	-			23516					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.67766G>C		.	.	.	.	.	.	.	.	.	.	C	10.94	1.494015	0.26774	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.72	3.88	0.44766	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76723	0.4027	H	0.97896	4.1	0.27202	N	0.960148	P;P;P;P	0.51933	0.949;0.949;0.949;0.949	P;P;P;P	0.58721	0.844;0.844;0.844;0.844	T	0.74109	-0.3771	9	0.87932	D	0	.	12.8869	0.58049	0.0:0.8112:0.0:0.1888	.	16092;16217;16284;23516	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	22589;16092;16284;16217;16090	ENSP00000343764:R22589P;ENSP00000434586:R16092P;ENSP00000340554:R16284P;ENSP00000352154:R16217P	ENSP00000340554:R16284P	R	-	2	0	TTN	179143635	0.816000	0.29132	0.710000	0.30468	0.999000	0.98932	1.653000	0.37323	1.520000	0.48965	0.650000	0.86243	CGA		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	99	0	0	0	0	10	99				
TTN	7273	broad.mit.edu	37	2	179640223	179640223	+	Missense_Mutation	SNP	C	C	T	rs530807674		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:179640223C>T	ENST00000591111.1	-	28	6592	c.6368G>A	c.(6367-6369)cGg>cAg	p.R2123Q	TTN_ENST00000589042.1_Missense_Mutation_p.R2123Q|TTN_ENST00000342175.6_Missense_Mutation_p.R2077Q|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R2077Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R2077Q|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R2123Q|TTN_ENST00000360870.5_Missense_Mutation_p.R2123Q			Q8WZ42	TITIN_HUMAN	titin	12811	Ig-like 10.				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)			CCAGTAGATCCGGTCAGACCG	0.483																																						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.(6367-6369)CGG>CAG		titin isoform N2-A							87.0	90.0	89.0					2																	179640223		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640223C>T	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.6368G>A	2.37:g.179640223C>T	ENSP00000465570:p.Arg2123Gln					TTN_uc010zfh.1_Missense_Mutation_p.R2077Q|TTN_uc010zfi.1_Missense_Mutation_p.R2077Q|TTN_uc010zfj.1_Missense_Mutation_p.R2077Q|TTN_uc002unb.2_Missense_Mutation_p.R2123Q|uc002unc.1_5'Flank	p.R2123Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6592	-			2123					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.6368G>A		.	.	.	.	.	.	.	.	.	.	C	13.49	2.252226	0.39797	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.33	5.33	0.75918	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84410	0.5466	M	0.85710	2.77	0.39660	D	0.97059	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.998;0.999	D	0.87493	0.2428	9	0.87932	D	0	.	19.0299	0.92952	0.0:1.0:0.0:0.0	.	2077;2077;2077;2123;2123	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	2123;2077;2077;2077;2077;2123	ENSP00000343764:R2123Q;ENSP00000434586:R2077Q;ENSP00000340554:R2077Q;ENSP00000352154:R2077Q;ENSP00000354117:R2123Q	ENSP00000340554:R2077Q	R	-	2	0	TTN	179348468	1.000000	0.71417	0.994000	0.49952	0.647000	0.38526	7.792000	0.85828	2.503000	0.84419	0.655000	0.94253	CGG		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	38	0	0	0	0	16	38				
TTLL4	9654	broad.mit.edu	37	2	219603790	219603790	+	Missense_Mutation	SNP	A	A	G	rs148659460	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:219603790A>G	ENST00000392102.1	+	3	1731	c.1391A>G	c.(1390-1392)aAc>aGc	p.N464S	TTLL4_ENST00000442769.1_Missense_Mutation_p.N464S|TTLL4_ENST00000258398.4_Missense_Mutation_p.N464S|TTLL4_ENST00000457313.1_Missense_Mutation_p.N299S	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	464					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GGCATAGCCAACGTGGCCACC	0.532													A|||	9	0.00179712	0.0061	0.0	5008	,	,		14441	0.0		0.001	False		,,,				2504	0.0				GBM(172;1818 2053 15407 20943 49753)	uc002viy.2		NA																	0				ovary(2)|skin(1)	3						c.(1390-1392)AAC>AGC		tubulin tyrosine ligase-like family, member 4		A	SER/ASN	15,4391	21.2+/-45.6	0,15,2188	52.0	52.0	52.0		1391	2.3	0.3	2	dbSNP_134	52	0,8600		0,0,4300	yes	missense	TTLL4	NM_014640.4	46	0,15,6488	GG,GA,AA		0.0,0.3404,0.1153	benign	464/1200	219603790	15,12991	2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219603790A>G		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.1391A>G	2.37:g.219603790A>G	ENSP00000375951:p.Asn464Ser					TTLL4_uc010zkl.1_Missense_Mutation_p.N299S|TTLL4_uc010fvx.2_Missense_Mutation_p.N464S	p.N464S	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	1761	+		Renal(207;0.0915)	464					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.1391A>G	CCDS2422.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	0.640	-0.813802	0.02798	0.003404	0.0	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.03860	3.96;4.21;3.78;4.21	4.67	2.32	0.28847	.	4.666640	0.00424	N	0.000063	T	0.03390	0.0098	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41466	-0.9507	10	0.18276	T	0.48	.	7.1233	0.25456	0.823:0.0:0.177:0.0	.	299;464;464	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	S	299;464;464;464	ENSP00000393332:N299S;ENSP00000375951:N464S;ENSP00000396555:N464S;ENSP00000258398:N464S	ENSP00000258398:N464S	N	+	2	0	TTLL4	219312034	0.171000	0.23029	0.277000	0.24703	0.088000	0.18126	1.412000	0.34714	0.326000	0.23384	-0.361000	0.07541	AAC		0.532	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		12	12	0	0	0	0	12	12				
CCDC108	255101	broad.mit.edu	37	2	219888039	219888039	+	Missense_Mutation	SNP	G	G	A	rs138095762		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:219888039G>A	ENST00000341552.5	-	16	2793	c.2710C>T	c.(2710-2712)Cgc>Tgc	p.R904C	CCDC108_ENST00000441968.1_Missense_Mutation_p.R904C|CCDC108_ENST00000453220.1_Missense_Mutation_p.R904C	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	904	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.R904C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGGGTTGCGGAAGGTGAAG	0.637																																						uc002vjl.1		NA																	1	Substitution - Missense(1)		liver(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(2710-2712)CGC>TGC		coiled-coil domain containing 108 isoform 1		A	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	41.0	44.0	43.0		2710	2.7	0.5	2	dbSNP_134	43	0,8600		0,0,4300	no	missense	CCDC108	NM_194302.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	904/1926	219888039	1,13005	2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219888039G>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2710C>T	2.37:g.219888039G>A	ENSP00000340776:p.Arg904Cys						p.R904C	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	2794	-		Renal(207;0.0915)	904			MSP.		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.2710C>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	g	17.60	3.430550	0.62844	2.27E-4	0.0	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.63744	-0.06;-0.06;-0.06	5.61	2.67	0.31697	.	1.150560	0.06481	N	0.732895	T	0.66761	0.2822	L	0.44542	1.39	0.09310	N	1	D	0.76494	0.999	P	0.59703	0.862	T	0.49021	-0.8982	10	0.33141	T	0.24	-1.4661	6.1275	0.20187	0.1502:0.0:0.3837:0.4661	.	904	Q6ZU64	CC108_HUMAN	C	904	ENSP00000340776:R904C;ENSP00000413377:R904C;ENSP00000409117:R904C	ENSP00000340776:R904C	R	-	1	0	CCDC108	219596283	0.552000	0.26505	0.542000	0.28115	0.967000	0.64934	2.591000	0.46163	0.232000	0.21100	-0.226000	0.12346	CGC		0.637	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		9	23	0	0	0	0	9	23				
PAK7	57144	broad.mit.edu	37	20	9546783	9546783	+	Silent	SNP	C	C	T	rs140739060	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr20:9546783C>T	ENST00000378429.3	-	6	1785	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	PAK7_ENST00000353224.5_Silent_p.P413P|PAK7_ENST00000378423.1_Silent_p.P413P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	413	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCCAGCTGGGCGGCGGGTAGG	0.657																																						uc002wnl.2		NA																	0		p.P413L(1)		lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1237-1239)CCG>CCA		p21-activated kinase 7							56.0	58.0	57.0					20																	9546783		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546783C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1239G>A	20.37:g.9546783C>T						PAK7_uc002wnk.2_Silent_p.P413P|PAK7_uc002wnj.2_Silent_p.P413P|PAK7_uc010gby.1_Silent_p.P413P	p.P413P	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1784	-			413			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1239G>A	CCDS13107.1																																																																																				0.657	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			20	48	0	0	0	0	20	48				
MACROD2	140733	broad.mit.edu	37	20	15843468	15843468	+	Missense_Mutation	SNP	G	G	A	rs143525826		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr20:15843468G>A	ENST00000310348.4	+	9	724	c.724G>A	c.(724-726)Gta>Ata	p.V242I	MACROD2_ENST00000402914.1_Missense_Mutation_p.V7I|MACROD2_ENST00000378058.3_Missense_Mutation_p.V7I|MACROD2_ENST00000217246.4_Missense_Mutation_p.V242I			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	242					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTTTTTCTCCGTAGGTGAGTA	0.363													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18773	0.0		0.0	False		,,,				2504	0.0					uc002wou.2		NA																	0					0						c.(724-726)GTA>ATA		MACRO domain containing 2 isoform 1		A	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	77.0	77.0	77.0		19,724	-6.6	0.0	20	dbSNP_134	77	0,8598		0,0,4299	no	missense,missense	MACROD2	NM_001033087.1,NM_080676.5	29,29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	7/214,242/426	15843468	1,13003	2203	4299	6502	SO:0001583	missense	140733							g.chr20:15843468G>A	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.724G>A	20.37:g.15843468G>A	ENSP00000309809:p.Val242Ile					MACROD2_uc002wot.2_Missense_Mutation_p.V242I|MACROD2_uc002woz.2_Missense_Mutation_p.V7I|MACROD2_uc002wpb.2_Missense_Mutation_p.V7I	p.V242I	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			9	988	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	242					A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.724G>A	CCDS13120.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	4.473	0.087672	0.08583	2.27E-4	0.0	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.48201	1.93;1.93;0.82;0.82	5.6	-6.6	0.01824	.	1.010380	0.07960	N	0.982192	T	0.24586	0.0596	N	0.26042	0.785	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.19976	-1.0289	10	0.22109	T	0.4	-3.0E-4	3.5127	0.07714	0.5581:0.0986:0.1441:0.1991	.	242;242	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	I	242;242;7;7	ENSP00000217246:V242I;ENSP00000309809:V242I;ENSP00000385290:V7I;ENSP00000367297:V7I	ENSP00000217246:V242I	V	+	1	0	MACROD2	15791468	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.504000	0.06375	-0.696000	0.05098	-1.158000	0.01797	GTA		0.363	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		8	33	0	0	0	0	8	33				
ZNF512B	57473	broad.mit.edu	37	20	62657405	62657405	+	Intron	SNP	C	C	T	rs151209735		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr20:62657405C>T	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GTGCCCCCACCGCCCGGGTAC	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		14716	0.001		0.0	False		,,,				2504	0.0					uc002yho.2		NA																	0				ovary(2)	2						c.(2020-2022)ACC>ACT		PRP6 pre-mRNA processing factor 6 homolog		C		0,4406		0,0,2203	43.0	45.0	44.0		2022	-11.6	0.0	20	dbSNP_134	44	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	PRPF6	NM_012469.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		674/942	62657405	1,13003	2203	4299	6502	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62657405C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+22652G>A	20.37:g.62657405C>T						PRPF6_uc002yhp.2_Intron	p.T674T	NM_012469	NP_036601	O94906	PRP6_HUMAN			15	2190	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		674					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.2022C>T	CCDS13548.1																																																																																				0.682	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		8	51	0	0	0	0	8	51				
TPTE	7179	broad.mit.edu	37	21	10952943	10952943	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr21:10952943A>C	ENST00000361285.4	-	9	583	c.254T>G	c.(253-255)gTg>gGg	p.V85G	TPTE_ENST00000342420.5_Missense_Mutation_p.V47G|TPTE_ENST00000298232.7_Missense_Mutation_p.V67G|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	85					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATTGAATGCACAATTTTCTT	0.333																																						uc002yip.1		NA																	0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(253-255)GTG>GGG		transmembrane phosphatase with tensin homology							41.0	41.0	41.0					21																	10952943		2200	4280	6480	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10952943A>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.254T>G	21.37:g.10952943A>C	ENSP00000355208:p.Val85Gly					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V67G|TPTE_uc002yir.1_Missense_Mutation_p.V47G|TPTE_uc010gkv.1_5'UTR	p.V85G	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	622	-			85					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.254T>G	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.47	1.358175	0.24598	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.95412	-3.63;-3.7;-3.64	1.8	-0.694	0.11294	.	2.267750	0.03822	U	0.267602	D	0.92603	0.7650	L	0.43923	1.385	0.09310	N	0.99999	P;P;P	0.42296	0.775;0.775;0.689	B;B;B	0.42282	0.382;0.382;0.242	D	0.84621	0.0684	10	0.87932	D	0	-1.5267	4.2156	0.10533	0.6013:0.0:0.3987:0.0	.	47;67;85	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	G	67;85;47;67	ENSP00000298232:V67G;ENSP00000355208:V85G;ENSP00000344441:V47G	ENSP00000298232:V67G	V	-	2	0	TPTE	9974814	0.000000	0.05858	0.000000	0.03702	0.425000	0.31504	0.268000	0.18571	-0.181000	0.10619	0.163000	0.16589	GTG		0.333	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			10	39	0	0	0	0	10	39				
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr22:22127164C>A	ENST00000215832.6	-	7	1152	c.964G>T	c.(964-966)Gag>Tag	p.E322*	MAPK1_ENST00000544786.1_Nonsense_Mutation_p.E278*|MAPK1_ENST00000398822.3_Nonsense_Mutation_p.E322*	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																						uc002zvn.2		NA																	1	Substitution - Missense(1)		cervix(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(964-966)GAG>TAG		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						165.0	132.0	143.0					22																	22127164		2203	4300	6503	SO:0001587	stop_gained	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22127164C>A	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>T	22.37:g.22127164C>A	ENSP00000215832:p.Glu322*					MAPK1_uc002zvo.2_Nonsense_Mutation_p.E322*|MAPK1_uc010gtk.1_Nonsense_Mutation_p.E278*	p.E322*	NM_002745	NP_002736	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	7	1204	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	322					A8CZ64	Nonsense_Mutation	SNP	ENST00000215832.6	37	c.964G>T	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	C	38	6.948568	0.97956	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	.	.	.	X	322;310;322;278	.	ENSP00000215832:E322X	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			33	55	1	0	1.22e-17	6.93e-17	33	55				
CNTN6	27255	broad.mit.edu	37	3	1415634	1415634	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:1415634T>C	ENST00000446702.2	+	16	2599	c.1972T>C	c.(1972-1974)Tac>Cac	p.Y658H	CNTN6_ENST00000539053.1_Missense_Mutation_p.Y586H|CNTN6_ENST00000350110.2_Missense_Mutation_p.Y658H			Q9UQ52	CNTN6_HUMAN	contactin 6	658	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGTAAGACATACAATGCAAC	0.383																																						uc003boz.2		NA																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(1972-1974)TAC>CAC		contactin 6 precursor							108.0	104.0	105.0					3																	1415634		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1415634T>C	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1972T>C	3.37:g.1415634T>C	ENSP00000407822:p.Tyr658His					CNTN6_uc011asj.1_Missense_Mutation_p.Y586H|CNTN6_uc003bpa.2_Missense_Mutation_p.Y658H	p.Y658H	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	16	2239	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	658			Fibronectin type-III 1.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.1972T>C	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	T	6.593	0.477815	0.12521	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.53640	0.61;0.61;0.61	4.84	1.06	0.20224	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.262799	0.26812	N	0.022374	T	0.19725	0.0474	N	0.03608	-0.345	0.20074	N	0.999932	B	0.06786	0.001	B	0.09377	0.004	T	0.20638	-1.0269	10	0.18710	T	0.47	.	8.3116	0.32075	0.0:0.3681:0.0:0.6319	.	658	Q9UQ52	CNTN6_HUMAN	H	658;586;658	ENSP00000407822:Y658H;ENSP00000442791:Y586H;ENSP00000341882:Y658H	ENSP00000341882:Y658H	Y	+	1	0	CNTN6	1390634	0.016000	0.18221	0.878000	0.34440	0.991000	0.79684	0.179000	0.16840	0.287000	0.22375	0.533000	0.62120	TAC		0.383	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		3	26	0	0	0	0	3	26				
CCRL2	9034	broad.mit.edu	37	3	46449784	46449784	+	Missense_Mutation	SNP	G	G	A	rs374019945		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:46449784G>A	ENST00000399036.3	+	2	566	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	CCRL2_ENST00000357392.4_Missense_Mutation_p.V84M|CCRL2_ENST00000400880.3_Missense_Mutation_p.V72M|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000400882.2_Missense_Mutation_p.V72M	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	72					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		ACTCAAACGCGTGGAAAATAT	0.468																																						uc003cpp.3		NA																	0				ovary(1)	1						c.(214-216)GTG>ATG		chemokine (C-C motif) receptor-like 2 isoform 1							79.0	83.0	81.0					3																	46449784		1966	4135	6101	SO:0001583	missense	9034				chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity	g.chr3:46449784G>A	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.214G>A	3.37:g.46449784G>A	ENSP00000381994:p.Val72Met					CCRL2_uc010hjg.2_Missense_Mutation_p.V84M|CCRL2_uc010hjf.2_Missense_Mutation_p.V72M	p.V72M	NM_003965	NP_003956	O00421	CCRL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	2	499	+			72			Cytoplasmic (Potential).		B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	c.214G>A	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	A	0.102	-1.151002	0.01700	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.25	-4.8	0.03190	GPCR, rhodopsin-like superfamily (1);	1.200120	0.06177	N	0.678727	T	0.17450	0.0419	N	0.11756	0.17	0.09310	N	1	P;P	0.37176	0.531;0.586	B;B	0.34138	0.11;0.176	T	0.13282	-1.0515	10	0.02654	T	1	.	7.8731	0.29578	0.3931:0.4075:0.1994:0.0	.	84;72	O00421-2;O00421	.;CCRL2_HUMAN	M	72;84;72;72;72	ENSP00000381994:V72M;ENSP00000349967:V84M;ENSP00000383677:V72M;ENSP00000414957:V72M;ENSP00000383678:V72M	ENSP00000349967:V84M	V	+	1	0	CCRL2	46424788	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.339000	0.07832	-1.672000	0.01464	-2.810000	0.00111	GTG		0.468	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2			23	31	0	0	0	0	23	31				
RBM6	10180	broad.mit.edu	37	3	50103889	50103889	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:50103889A>T	ENST00000266022.4	+	17	3156	c.2897A>T	c.(2896-2898)aAt>aTt	p.N966I	RBM6_ENST00000442092.1_Missense_Mutation_p.N444I|RBM6_ENST00000443081.1_Missense_Mutation_p.N834I|RBM6_ENST00000539992.1_Missense_Mutation_p.N308I|RBM6_ENST00000421682.1_5'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.N444I	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	966					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGTTTCCCAATAAAGAAGTT	0.478																																						uc003cyc.2		NA																	0				ovary(2)	2						c.(2896-2898)AAT>ATT		RNA binding motif protein 6							127.0	139.0	135.0					3																	50103889		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50103889A>T	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2897A>T	3.37:g.50103889A>T	ENSP00000266022:p.Asn966Ile					RBM6_uc010hlc.1_3'UTR|RBM6_uc003cyd.2_Missense_Mutation_p.N444I|RBM6_uc003cye.2_Missense_Mutation_p.N444I|RBM6_uc011bdi.1_Missense_Mutation_p.N308I|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	p.N966I	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	17	3030	+			966					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.2897A>T	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.902838	0.92035	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955	T;T;T;T;T	0.49139	0.79;1.33;1.34;0.84;0.79	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.67344	0.2883	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.66712	-0.5854	9	.	.	.	-24.2423	16.5582	0.84512	1.0:0.0:0.0:0.0	.	966	P78332	RBM6_HUMAN	I	444;966;834;308;444	ENSP00000393530:N444I;ENSP00000266022:N966I;ENSP00000396466:N834I;ENSP00000443165:N308I;ENSP00000392939:N444I	.	N	+	2	0	RBM6	50078893	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.140000	0.77322	2.308000	0.77769	0.533000	0.62120	AAT		0.478	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		50	65	0	0	0	0	50	65				
PARP14	54625	broad.mit.edu	37	3	122418794	122418794	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:122418794C>A	ENST00000474629.2	+	6	1659	c.1393C>A	c.(1393-1395)Caa>Aaa	p.Q465K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AAGGGAAGAGCAAAGTTTGAA	0.403																																						uc003efq.3		NA																	0				ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(1393-1395)CAA>AAA		poly (ADP-ribose) polymerase family, member 14							76.0	71.0	72.0					3																	122418794		1833	4079	5912	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122418794C>A	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1393C>A	3.37:g.122418794C>A	ENSP00000418194:p.Gln465Lys					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.Q182K|PARP14_uc003efs.1_Missense_Mutation_p.Q182K	p.Q465K	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	1452	+			465					B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.1393C>A	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	7.632	0.679138	0.14907	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.10005	2.92	5.32	-0.0775	0.13718	.	0.205962	0.35320	N	0.003296	T	0.12135	0.0295	M	0.66939	2.045	0.09310	N	1	B;P	0.48294	0.081;0.908	B;B	0.40636	0.03;0.335	T	0.25117	-1.0141	10	0.30078	T	0.28	.	12.9889	0.58608	0.1197:0.416:0.4643:0.0	.	465;465	Q460N5-4;Q460N5	.;PAR14_HUMAN	K	465;384	ENSP00000418194:Q465K	ENSP00000381228:Q384K	Q	+	1	0	PARP14	123901484	0.711000	0.27906	0.776000	0.31678	0.174000	0.22865	1.027000	0.30115	0.064000	0.16427	-0.150000	0.13652	CAA		0.403	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		30	27	1	0	2.13e-12	1.18e-11	30	27				
KALRN	8997	broad.mit.edu	37	3	124431825	124431825	+	Missense_Mutation	SNP	C	C	A	rs371482945		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:124431825C>A	ENST00000291478.5	+	25	3191	c.3028C>A	c.(3028-3030)Cgc>Agc	p.R1010S	KALRN_ENST00000360013.3_Missense_Mutation_p.R2707S|KALRN_ENST00000428018.2_Missense_Mutation_p.R978S	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2706					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAAGCTACCCGCAAAGATGT	0.413																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(8119-8121)CGC>AGC		kalirin, RhoGEF kinase isoform 1							62.0	66.0	65.0					3																	124431825		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124431825C>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3028C>A	3.37:g.124431825C>A	ENSP00000291478:p.Arg1010Ser					KALRN_uc003ehk.2_Missense_Mutation_p.R1010S	p.R2707S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			58	8246	+			2706			Protein kinase.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.8119C>A	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081903	0.76528	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	T;T;T	0.38240	1.15;1.15;1.15	4.82	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.074366	0.53938	D	0.000043	T	0.31544	0.0800	N	0.11673	0.155	0.28823	N	0.897594	D;P	0.58970	0.984;0.782	P;B	0.56216	0.794;0.277	T	0.10019	-1.0648	10	0.30854	T	0.27	.	12.0736	0.53630	0.2954:0.7045:0.0:0.0	.	1010;2706	C9JQ37;O60229	.;KALRN_HUMAN	S	2707;1010;978	ENSP00000353109:R2707S;ENSP00000291478:R1010S;ENSP00000402419:R978S	ENSP00000291478:R1010S	R	+	1	0	KALRN	125914515	0.903000	0.30736	1.000000	0.80357	0.991000	0.79684	1.508000	0.35769	2.508000	0.84585	0.558000	0.71614	CGC		0.413	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		17	55	1	0	2.23e-06	1.18e-05	17	55				
PLXNA1	5361	broad.mit.edu	37	3	126747877	126747877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:126747877G>T	ENST00000393409.2	+	25	4711	c.4711G>T	c.(4711-4713)Gag>Tag	p.E1571*	PLXNA1_ENST00000251772.4_Nonsense_Mutation_p.E1548*	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1571					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGCAGGACGAGGACGTCAC	0.657																																						uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4642-4644)GAG>TAG		plexin A1							137.0	94.0	108.0					3																	126747877		2203	4300	6503	SO:0001587	stop_gained	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126747877G>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4711G>T	3.37:g.126747877G>T	ENSP00000377061:p.Glu1571*					PLXNA1_uc003ejh.2_Nonsense_Mutation_p.E216*	p.E1548*	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	25	4646	+			1571			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000393409.2	37	c.4642G>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	44	10.977007	0.99498	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	.	.	.	3.91	2.06	0.26882	.	0.085030	0.48767	D	0.000179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.2484	0.43354	0.1672:0.0:0.8328:0.0	.	.	.	.	X	1571;1548	.	ENSP00000251772:E1548X	E	+	1	0	PLXNA1	128230567	1.000000	0.71417	0.805000	0.32314	0.900000	0.52787	7.756000	0.85195	0.412000	0.25729	0.467000	0.42956	GAG		0.657	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		16	40	1	0	3.57e-18	2.03e-17	16	40				
IFT122	55764	broad.mit.edu	37	3	129182445	129182445	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:129182445C>G	ENST00000348417.2	+	6	469	c.392C>G	c.(391-393)tCa>tGa	p.S131*	IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000347300.2_Nonsense_Mutation_p.S131*|IFT122_ENST00000507564.1_Nonsense_Mutation_p.S182*|IFT122_ENST00000504021.1_Nonsense_Mutation_p.S84*|IFT122_ENST00000296266.3_Nonsense_Mutation_p.S182*|IFT122_ENST00000349441.2_Nonsense_Mutation_p.S79*	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	131					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AAACACAAATCAAGCAGCAAG	0.398																																						uc003emm.2		NA																	0				ovary(1)|skin(1)	2						c.(391-393)TCA>TGA		WD repeat domain 10 isoform 2							125.0	119.0	121.0					3																	129182445		2203	4300	6503	SO:0001587	stop_gained	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129182445C>G	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.392C>G	3.37:g.129182445C>G	ENSP00000324005:p.Ser131*					IFT122_uc003eml.2_Nonsense_Mutation_p.S182*|IFT122_uc003emn.2_Nonsense_Mutation_p.S131*|IFT122_uc003emo.2_Nonsense_Mutation_p.S79*|IFT122_uc003emp.2_Translation_Start_Site|IFT122_uc010htc.2_Nonsense_Mutation_p.S182*|IFT122_uc011bky.1_Translation_Start_Site|IFT122_uc003emq.2_Nonsense_Mutation_p.S79*|IFT122_uc003emr.2_Translation_Start_Site|IFT122_uc011bla.1_Translation_Start_Site|IFT122_uc011bkx.1_Nonsense_Mutation_p.S79*|IFT122_uc011bkz.1_RNA	p.S131*	NM_052989	NP_443715	Q9HBG6	IF122_HUMAN			6	598	+			131			WD 4.		B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Nonsense_Mutation	SNP	ENST00000348417.2	37	c.392C>G	CCDS3061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.516565|4.516565	0.85495|0.85495	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000508826;ENST00000512157;ENST00000515783|ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000514275	.|.	.|.	.|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.391609	.|0.23439	.|N	.|0.048175	T|.	0.41511|.	0.1162|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20107|.	-1.0285|.	4|.	.|0.10636	.|T	.|0.68	-3.6431|-3.6431	9.9627|9.9627	0.41706|0.41706	0.0:0.8498:0.0:0.1502|0.0:0.8498:0.0:0.1502	.|.	.|.	.|.	.|.	M|X	82;117;65|131;182;182;131;84;79;131;79;91	.|.	.|ENSP00000296266:S182X	I|S	+|+	3|2	3|0	IFT122|IFT122	130665135|130665135	0.992000|0.992000	0.36948|0.36948	0.996000|0.996000	0.52242|0.52242	0.989000|0.989000	0.77384|0.77384	3.059000|3.059000	0.49947|0.49947	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.398	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		4	61	0	0	0	0	4	61				
SLC9A9	285195	broad.mit.edu	37	3	142987754	142987754	+	Missense_Mutation	SNP	G	G	A	rs370595825		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:142987754G>A	ENST00000316549.6	-	15	1881	c.1673C>T	c.(1672-1674)cCg>cTg	p.P558L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	558					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCTGGAAATCGGACCACACCA	0.478																																						uc003evn.2		NA																	0				ovary(2)|skin(1)	3						c.(1672-1674)CCG>CTG		solute carrier family 9 (sodium/hydrogen		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	170.0	164.0	166.0		1673	5.7	0.2	3		166	0,8600		0,0,4300	no	missense	SLC9A9	NM_173653.3	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	558/646	142987754	1,13005	2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142987754G>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1673C>T	3.37:g.142987754G>A	ENSP00000320246:p.Pro558Leu						p.P558L	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			15	1855	-			558					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1673C>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740435	0.69304	2.27E-4	0.0	ENSG00000181804	ENST00000316549	T	0.58940	0.3	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.74869	0.3773	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71699	-0.4514	10	0.38643	T	0.18	.	19.8016	0.96509	0.0:0.0:1.0:0.0	.	558	Q8IVB4	SL9A9_HUMAN	L	558	ENSP00000320246:P558L	ENSP00000320246:P558L	P	-	2	0	SLC9A9	144470444	1.000000	0.71417	0.168000	0.22838	0.991000	0.79684	7.103000	0.77014	2.677000	0.91161	0.655000	0.94253	CCG		0.478	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		7	171	0	0	0	0	7	171				
SI	6476	broad.mit.edu	37	3	164727148	164727148	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:164727148G>A	ENST00000264382.3	-	35	4160	c.4098C>T	c.(4096-4098)ttC>ttT	p.F1366F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1366	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGGAAGTCCTGAAGAAATCTG	0.378										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4096-4098)TTC>TTT		sucrase-isomaltase	Acarbose(DB00284)						77.0	79.0	78.0					3																	164727148		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164727148G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4098C>T	3.37:g.164727148G>A		HNSCC(35;0.089)					p.F1366F	NM_001041	NP_001032	P14410	SUIS_HUMAN			35	4160	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1366			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.4098C>T	CCDS3196.1																																																																																				0.378	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		60	46	0	0	0	0	60	46				
PIK3CA	5290	broad.mit.edu	37	3	178922325	178922325	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:178922325A>T	ENST00000263967.3	+	6	1251	c.1094A>T	c.(1093-1095)gAa>gTa	p.E365V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	365	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATGGAGGAGAACCCTTATGT	0.343		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0		p.E365K(2)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1093-1095)GAA>GTA		phosphoinositide-3-kinase, catalytic, alpha							224.0	183.0	196.0					3																	178922325		1845	4097	5942	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178922325A>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1094A>T	3.37:g.178922325A>T	ENSP00000263967:p.Glu365Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E365V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		6	1251	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		365			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1094A>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662837	0.88251	.	.	ENSG00000121879	ENST00000263967	T	0.72505	-0.66	5.53	5.53	0.82687	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	D	0.82820	0.5120	M	0.81942	2.565	0.80722	D	1	D	0.58970	0.984	P	0.60236	0.871	D	0.85076	0.0943	10	0.59425	D	0.04	-11.3698	15.63	0.76899	1.0:0.0:0.0:0.0	.	365	P42336	PK3CA_HUMAN	V	365	ENSP00000263967:E365V	ENSP00000263967:E365V	E	+	2	0	PIK3CA	180405019	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.819000	0.91997	2.100000	0.63781	0.533000	0.62120	GAA		0.343	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			40	122	0	0	0	0	40	122				
ATP13A4	84239	broad.mit.edu	37	3	193171990	193171990	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr3:193171990A>C	ENST00000342695.4	-	17	2249	c.1927T>G	c.(1927-1929)Ttt>Gtt	p.F643V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.F624V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	643						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCGCTAACAAAACTAGTGGGT	0.433																																						uc003ftd.2		NA																	0				ovary(2)	2						c.(1927-1929)TTT>GTT		ATPase type 13A4							114.0	98.0	103.0					3																	193171990		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193171990A>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1927T>G	3.37:g.193171990A>C	ENSP00000339182:p.Phe643Val					ATP13A4_uc003fte.1_Missense_Mutation_p.F643V|ATP13A4_uc011bsr.1_Missense_Mutation_p.F114V|ATP13A4_uc010hzi.2_RNA	p.F643V	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	17	2035	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		643			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.1927T>G	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	A	25.8	4.675946	0.88445	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.69040	-0.37;-0.37	6.17	6.17	0.99709	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.64402	D	0.000001	T	0.75148	0.3810	L	0.52126	1.63	0.80722	D	1	P;P;P	0.48407	0.91;0.68;0.91	P;P;P	0.58391	0.734;0.615;0.838	T	0.76443	-0.2957	10	0.62326	D	0.03	-14.227	14.7743	0.69713	1.0:0.0:0.0:0.0	.	624;643;643	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	V	624;643	ENSP00000376238:F624V;ENSP00000339182:F643V	ENSP00000339182:F643V	F	-	1	0	ATP13A4	194654684	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.937000	0.63513	2.371000	0.80710	0.533000	0.62120	TTT		0.433	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		8	89	0	0	0	0	8	89				
CFI	3426	broad.mit.edu	37	4	110687902	110687902	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr4:110687902C>T	ENST00000394634.2	-	2	343	c.136G>A	c.(136-138)Gtc>Atc	p.V46I	CFI_ENST00000510800.1_Missense_Mutation_p.V46I|CFI_ENST00000512148.1_Missense_Mutation_p.V46I|CFI_ENST00000394635.3_Missense_Mutation_p.V46I	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	46					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGGCAGAAGACTTTATCGCAG	0.428																																						uc003hzr.3		NA																	0					0						c.(136-138)GTC>ATC		complement factor I preproprotein							105.0	99.0	101.0					4																	110687902		2203	4300	6503	SO:0001583	missense	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110687902C>T	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.136G>A	4.37:g.110687902C>T	ENSP00000378130:p.Val46Ile					CFI_uc011cft.1_Missense_Mutation_p.V46I|CFI_uc003hzs.3_Missense_Mutation_p.V46I	p.V46I	NM_000204	NP_000195	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	2	344	-		Hepatocellular(203;0.217)	46					O60442	Missense_Mutation	SNP	ENST00000394634.2	37	c.136G>A	CCDS34049.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458184	0.84317	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000540104;ENST00000512148;ENST00000536228;ENST00000510800	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.68	5.68	0.88126	Factor I / membrane attack complex (1);	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	M	0.71871	2.18	0.49582	D	0.999809	D;D;D	0.89917	1.0;0.975;0.98	D;P;P	0.80764	0.994;0.787;0.695	T	0.77520	-0.2557	10	0.42905	T	0.14	-22.8537	19.7835	0.96428	0.0:1.0:0.0:0.0	.	46;46;46	E7ETH0;G3XAM2;P05156	.;.;CFAI_HUMAN	I	46;46;46;46;28;46	ENSP00000378131:V46I;ENSP00000378130:V46I;ENSP00000427438:V46I;ENSP00000422009:V46I	ENSP00000378130:V46I	V	-	1	0	CFI	110907351	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	4.284000	0.58983	2.675000	0.91044	0.643000	0.83706	GTC		0.428	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		4	46	0	0	0	0	4	46				
KLKB1	3818	broad.mit.edu	37	4	187155200	187155200	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr4:187155200C>T	ENST00000264690.6	+	4	503	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.H106Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	106					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCAATGTGGTCATCAAATAAG	0.383																																						uc003iyy.2		NA																	0				ovary(1)	1						c.(316-318)CAT>TAT		plasma kallikrein B1 precursor							145.0	137.0	140.0					4																	187155200		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187155200C>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.316C>T	4.37:g.187155200C>T	ENSP00000264690:p.His106Tyr					KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.H68Y	p.H106Y	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	4	387	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	106					A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.316C>T	CCDS34120.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675850	0.29783	.	.	ENSG00000164344	ENST00000428196;ENST00000264690;ENST00000446598;ENST00000414291;ENST00000513864;ENST00000418715	D;D;D;D;D	0.91740	-2.9;-2.44;-2.84;-2.83;-2.36	4.54	2.66	0.31614	.	0.272271	0.29940	N	0.010803	D	0.90380	0.6989	M	0.82716	2.605	0.20873	N	0.999835	B;B	0.12630	0.003;0.006	B;B	0.08055	0.002;0.003	D	0.84657	0.0704	10	0.72032	D	0.01	.	6.9507	0.24544	0.1725:0.7313:0.0:0.0962	.	68;106	E7EQA8;P03952	.;KLKB1_HUMAN	Y	106;106;68;68;106;68	ENSP00000412366:H106Y;ENSP00000264690:H106Y;ENSP00000415563:H68Y;ENSP00000392231:H68Y;ENSP00000424469:H106Y	ENSP00000264690:H106Y	H	+	1	0	KLKB1	187392194	0.000000	0.05858	0.985000	0.45067	0.770000	0.43624	0.195000	0.17155	1.268000	0.44264	0.650000	0.86243	CAT		0.383	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		6	30	0	0	0	0	6	30				
HCN1	348980	broad.mit.edu	37	5	45262058	45262058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr5:45262058C>T	ENST00000303230.4	-	8	2695	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	880					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTCTGCGTCTGGGTCTGTG	0.483																																						uc003jok.2		NA																	0				ovary(1)	1						c.(2638-2640)GAC>AAC		hyperpolarization activated cyclic							92.0	107.0	102.0					5																	45262058		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262058C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2638G>A	5.37:g.45262058C>T	ENSP00000307342:p.Asp880Asn						p.D880N	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2663	-			880			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2638G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.737995	0.49045	.	.	ENSG00000164588	ENST00000303230	D	0.97529	-4.42	5.01	5.01	0.66863	.	0.649181	0.14437	N	0.319637	D	0.93625	0.7964	N	0.14661	0.345	0.51482	D	0.999922	B	0.20780	0.048	B	0.20767	0.031	D	0.89247	0.3588	10	0.54805	T	0.06	.	18.6982	0.91610	0.0:1.0:0.0:0.0	.	880	O60741	HCN1_HUMAN	N	880	ENSP00000307342:D880N	ENSP00000307342:D880N	D	-	1	0	HCN1	45297815	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.378000	0.66190	2.487000	0.83934	0.651000	0.88453	GAC		0.483	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		7	161	0	0	0	0	7	161				
GABRG2	2566	broad.mit.edu	37	5	161580208	161580208	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr5:161580208A>G	ENST00000361925.4	+	9	1458	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	GABRG2_ENST00000356592.3_Missense_Mutation_p.D421G|GABRG2_ENST00000414552.2_Missense_Mutation_p.D461G|GABRG2_ENST00000393933.4_Missense_Mutation_p.D318G			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	413					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GACGGCAAGGACTGTGCCAGT	0.458																																						uc003lyz.3		NA																	0				ovary(4)|skin(1)	5						c.(1237-1239)GAC>GGC		gamma-aminobutyric acid A receptor, gamma 2							216.0	201.0	206.0					5																	161580208		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580208A>G		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1238A>G	5.37:g.161580208A>G	ENSP00000354651:p.Asp413Gly					GABRG2_uc010jjc.2_Missense_Mutation_p.D461G|GABRG2_uc003lyy.3_Missense_Mutation_p.D421G|GABRG2_uc011dej.1_Missense_Mutation_p.D318G	p.D413G	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	9	1596	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	413			Cytoplasmic (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1238A>G	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.839257	0.51057	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.044958	0.85682	D	0.000000	D	0.86255	0.5889	N	0.24115	0.695	0.80722	D	1	P;B;B	0.48016	0.904;0.002;0.008	P;B;B	0.59825	0.864;0.008;0.029	D	0.87103	0.2180	10	0.49607	T	0.09	.	16.4237	0.83790	1.0:0.0:0.0:0.0	.	461;413;421	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	G	421;461;413;318	ENSP00000349000:D421G;ENSP00000410732:D461G;ENSP00000354651:D413G;ENSP00000377510:D318G	ENSP00000349000:D421G	D	+	2	0	GABRG2	161512786	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.228000	0.95250	2.279000	0.76181	0.533000	0.62120	GAC		0.458	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			10	61	0	0	0	0	10	61				
ZKSCAN8	7745	broad.mit.edu	37	6	28121094	28121095	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:28121094_28121095GG>TT	ENST00000330236.6	+	6	1220_1221	c.1036_1037GG>TT	c.(1036-1038)GGg>TTg	p.G346L	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.G346L	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	346					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G346W(1)|p.G346V(1)									AATCCACACTGGGGAGAAACCC	0.47																																						uc003nkn.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1036-1038)GGG>TTG		zinc finger protein 192																																				SO:0001583	missense	7745				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28121094_28121095GG>TT		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	Exception_encountered	6.37:g.28121094_28121095delinsTT	ENSP00000332750:p.Gly346Leu					ZNF192_uc010jqx.1_Missense_Mutation_p.G346L|ZNF192_uc010jqy.1_Missense_Mutation_p.G159L|ZNF192_uc011dkz.1_Missense_Mutation_p.G159L	p.G346L	NM_006298	NP_006289	Q15776	ZN192_HUMAN			6	1220_1221	+			346					A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	DNP	ENST00000330236.6	37	c.1036_1037GG>TT	CCDS4645.1																																																																																				0.470	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			6	213	0	0	0	0	6	213				
TREML2	79865	broad.mit.edu	37	6	41166104	41166104	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:41166104T>G	ENST00000483722.1	-	2	304	c.119A>C	c.(118-120)cAg>cCg	p.Q40P		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	40	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATAGGAGCACTGCACAGACAG	0.502																																						uc010jxm.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(118-120)CAG>CCG		triggering receptor expressed on myeloid							150.0	158.0	155.0					6																	41166104		2203	4300	6503	SO:0001583	missense	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41166104T>G	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.119A>C	6.37:g.41166104T>G	ENSP00000418767:p.Gln40Pro						p.Q40P	NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN			2	298	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		40			Ig-like V-type.|Extracellular (Potential).		Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	c.119A>C	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	11.67	1.708037	0.30322	.	.	ENSG00000112195	ENST00000483722	T	0.21543	2.0	4.75	2.33	0.28932	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.326738	0.23450	N	0.048046	T	0.27134	0.0665	M	0.88105	2.93	0.30561	N	0.764513	D	0.65815	0.995	P	0.60415	0.874	T	0.09840	-1.0656	10	0.72032	D	0.01	-16.4951	3.6966	0.08367	0.192:0.1022:0.0:0.7058	.	40	Q5T2D2	TRML2_HUMAN	P	40	ENSP00000418767:Q40P	ENSP00000418767:Q40P	Q	-	2	0	TREML2	41274082	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	0.812000	0.27211	0.760000	0.33108	-0.433000	0.05886	CAG		0.502	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		8	169	0	0	0	0	8	169				
GABRR1	2569	broad.mit.edu	37	6	89926972	89926972	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:89926972T>A	ENST00000454853.2	-	1	180	c.70A>T	c.(70-72)Agc>Tgc	p.S24C	GABRR1_ENST00000435811.1_Missense_Mutation_p.S24C|GABRR1_ENST00000481493.1_5'UTR|GABRR1_ENST00000369451.3_Intron	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	24					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TGCATTCTGCTTTCAGTGGCC	0.463																																						uc003pna.2		NA																	0				pancreas(1)	1						c.(70-72)AGC>TGC		gamma-aminobutyric acid (GABA) receptor, rho 1	Picrotoxin(DB00466)						92.0	78.0	83.0					6																	89926972		2203	4300	6503	SO:0001583	missense	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89926972T>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.70A>T	6.37:g.89926972T>A	ENSP00000412673:p.Ser24Cys					GABRR1_uc011dzv.1_Missense_Mutation_p.S18C|GABRR1_uc011dzw.1_RNA	p.S24C	NM_002042	NP_002033	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	1	525	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)	24			Extracellular (Probable).		A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	c.70A>T	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	T	14.57	2.575529	0.45902	.	.	ENSG00000146276	ENST00000454853;ENST00000435811	T;T	0.36340	1.26;1.26	5.75	0.658	0.17855	.	0.295585	0.31113	N	0.008239	T	0.06462	0.0166	N	0.19112	0.55	0.32664	N	0.517672	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30416	-0.9979	9	.	.	.	-16.005	4.9428	0.13975	0.2139:0.4552:0.0:0.331	.	24;24	P24046-2;P24046	.;GBRR1_HUMAN	C	24	ENSP00000412673:S24C;ENSP00000394687:S24C	.	S	-	1	0	GABRR1	89983691	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	0.500000	0.22562	0.111000	0.17947	0.528000	0.53228	AGC		0.463	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			11	34	0	0	0	0	11	34				
HEY2	23493	broad.mit.edu	37	6	126080846	126080846	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:126080846C>T	ENST00000368364.3	+	5	1109	c.912C>T	c.(910-912)agC>agT	p.S304S	HEY2_ENST00000368365.1_Silent_p.S258S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	304					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CAGCCATCAGCCCGCCCTTGT	0.607																																						uc003qad.2		NA																	0				breast(1)	1						c.(910-912)AGC>AGT		hairy/enhancer-of-split related with YRPW motif							62.0	71.0	68.0					6																	126080846		2203	4300	6503	SO:0001819	synonymous_variant	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080846C>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.912C>T	6.37:g.126080846C>T						HEY2_uc011ebr.1_Silent_p.S258S	p.S304S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	1103	+			304						Silent	SNP	ENST00000368364.3	37	c.912C>T	CCDS5131.1																																																																																				0.607	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			56	103	0	0	0	0	56	103				
HEY2	23493	broad.mit.edu	37	6	126080849	126080849	+	Silent	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:126080849G>T	ENST00000368364.3	+	5	1112	c.915G>T	c.(913-915)ccG>ccT	p.P305P	HEY2_ENST00000368365.1_Silent_p.P259P	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	305					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCATCAGCCCGCCCTTGTCAG	0.597																																						uc003qad.2		NA																	0				breast(1)	1						c.(913-915)CCG>CCT		hairy/enhancer-of-split related with YRPW motif							61.0	71.0	68.0					6																	126080849		2203	4300	6503	SO:0001819	synonymous_variant	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080849G>T	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.915G>T	6.37:g.126080849G>T						HEY2_uc011ebr.1_Silent_p.P259P	p.P305P	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	1106	+			305						Silent	SNP	ENST00000368364.3	37	c.915G>T	CCDS5131.1																																																																																				0.597	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			54	103	1	0	4.67e-30	2.69e-29	54	103				
EYA4	2070	broad.mit.edu	37	6	133783512	133783512	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:133783512A>G	ENST00000367895.5	+	8	941	c.477A>G	c.(475-477)acA>acG	p.T159T	EYA4_ENST00000431403.2_Silent_p.T159T|EYA4_ENST00000430974.2_Silent_p.T105T|EYA4_ENST00000452339.2_Silent_p.T105T|EYA4_ENST00000355167.3_Silent_p.T159T|EYA4_ENST00000525849.1_Silent_p.T136T|EYA4_ENST00000355286.6_Silent_p.T136T|EYA4_ENST00000531901.1_Silent_p.T159T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	159					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGCTCAAACAATGTCTGCCT	0.478																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	0				large_intestine(2)	2						c.(475-477)ACA>ACG		eyes absent 4 isoform a							193.0	179.0	184.0					6																	133783512		2203	4300	6503	SO:0001819	synonymous_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783512A>G	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.477A>G	6.37:g.133783512A>G						EYA4_uc011ecq.1_Silent_p.T105T|EYA4_uc011ecr.1_Silent_p.T105T|EYA4_uc003qed.3_Silent_p.T159T|EYA4_uc003qee.3_Silent_p.T136T|EYA4_uc011ecs.1_Silent_p.T159T|uc003qef.1_Intron	p.T159T	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	8	935	+	Colorectal(23;0.221)		159					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.477A>G	CCDS5165.1																																																																																				0.478	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		27	98	0	0	0	0	27	98				
STX11	8676	broad.mit.edu	37	6	144508185	144508185	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:144508185C>A	ENST00000367568.4	+	2	604	c.421C>A	c.(421-423)Cgc>Agc	p.R141S		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	141					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CACCTTCCAGCGCGCCATGCA	0.657									Familial Hemophagocytic Lymphohistiocytosis																													uc003qks.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(421-423)CGC>AGC		syntaxin 11							37.0	33.0	34.0					6																	144508185		2203	4300	6503	SO:0001583	missense	8676	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508185C>A	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.421C>A	6.37:g.144508185C>A	ENSP00000356540:p.Arg141Ser						p.R141S	NM_003764	NP_003755	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	613	+			141					E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.421C>A	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624291	0.28889	.	.	ENSG00000135604	ENST00000367568	T	0.16196	2.36	5.87	0.454	0.16644	t-SNARE (1);Syntaxin, N-terminal (2);	0.699028	0.13460	N	0.386198	T	0.01661	0.0053	N	0.01352	-0.895	0.25265	N	0.989561	B	0.06786	0.001	B	0.04013	0.001	T	0.48080	-0.9066	10	0.33940	T	0.23	-0.2459	10.401	0.44229	0.1891:0.3286:0.4823:0.0	.	141	O75558	STX11_HUMAN	S	141	ENSP00000356540:R141S	ENSP00000356540:R141S	R	+	1	0	STX11	144549878	0.000000	0.05858	0.511000	0.27724	0.993000	0.82548	-0.267000	0.08619	0.366000	0.24427	0.655000	0.94253	CGC		0.657	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			13	28	1	0	0.00136819	0.0067364	13	28				
STARD3NL	83930	broad.mit.edu	37	7	38247206	38247206	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:38247206T>A	ENST00000009041.7	+	2	358	c.101T>A	c.(100-102)aTg>aAg	p.M34K	STARD3NL_ENST00000396013.1_Missense_Mutation_p.M34K|STARD3NL_ENST00000544203.1_Missense_Mutation_p.M27K|STARD3NL_ENST00000434197.1_Missense_Mutation_p.M34K	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	34						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						ACACAACTCATGGCCAGGATT	0.483																																						uc003tfr.2		NA																	0				ovary(1)	1						c.(100-102)ATG>AAG		MLN64 N-terminal homolog							155.0	137.0	143.0					7																	38247206		2203	4300	6503	SO:0001583	missense	83930					integral to membrane|late endosome membrane		g.chr7:38247206T>A	AJ492267	CCDS5455.1	7p14-p13	2003-02-06			ENSG00000010270	ENSG00000010270			19169	protein-coding gene	gene with protein product		611759				12393907	Standard	NM_032016		Approved	MENTHO, MGC3251	uc003tfr.3	O95772	OTTHUMG00000023659	ENST00000009041.7:c.101T>A	7.37:g.38247206T>A	ENSP00000009041:p.Met34Lys					STARD3NL_uc003tfs.2_Missense_Mutation_p.M34K|STARD3NL_uc003tft.2_Missense_Mutation_p.M34K	p.M34K	NM_032016	NP_114405	O95772	MENTO_HUMAN			2	249	+			34			Cytoplasmic (Potential).		A4D1X0	Missense_Mutation	SNP	ENST00000009041.7	37	c.101T>A	CCDS5455.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.759793	0.49468	.	.	ENSG00000010270	ENST00000009041;ENST00000544203;ENST00000434197;ENST00000396013;ENST00000440144;ENST00000453225;ENST00000429075	T;T;T;T;T;T;T	0.42900	1.54;1.54;1.54;1.54;0.96;0.96;0.96	6.17	6.17	0.99709	.	0.293606	0.46442	D	0.000291	T	0.31734	0.0806	N	0.19112	0.55	0.42331	D	0.992298	B;B	0.22414	0.05;0.069	B;B	0.18561	0.022;0.022	T	0.07654	-1.0761	10	0.49607	T	0.09	-31.0011	15.8048	0.78491	0.0:0.0:0.0:1.0	.	34;34	C9JKL2;O95772	.;MENTO_HUMAN	K	34;27;34;34;34;34;34	ENSP00000009041:M34K;ENSP00000439436:M27K;ENSP00000394000:M34K;ENSP00000379334:M34K;ENSP00000411933:M34K;ENSP00000395455:M34K;ENSP00000402028:M34K	ENSP00000009041:M34K	M	+	2	0	STARD3NL	38213731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.139000	0.50577	2.371000	0.80710	0.533000	0.62120	ATG		0.483	STARD3NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226929.2			39	23	0	0	0	0	39	23				
GLI3	2737	broad.mit.edu	37	7	42065866	42065866	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:42065866G>T	ENST00000395925.3	-	8	1258	c.1174C>A	c.(1174-1176)Cct>Act	p.P392T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	392					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCTGGAATAGGCCTCTGTGTT	0.587									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(1174-1176)CCT>ACT		GLI-Kruppel family member GLI3							108.0	98.0	101.0					7																	42065866		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42065866G>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1174C>A	7.37:g.42065866G>T	ENSP00000379258:p.Pro392Thr					GLI3_uc011kbg.1_Missense_Mutation_p.P333T	p.P392T	NM_000168	NP_000159	P10071	GLI3_HUMAN			8	1265	-			392					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1174C>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.988016	0.35036	.	.	ENSG00000106571	ENST00000395925	T	0.15834	2.39	5.9	5.9	0.94986	.	0.046657	0.85682	D	0.000000	T	0.18087	0.0434	L	0.45698	1.435	0.80722	D	1	B	0.16802	0.019	B	0.18561	0.022	T	0.02070	-1.1219	10	0.31617	T	0.26	.	15.0443	0.71816	0.0:0.0:0.858:0.142	.	392	P10071	GLI3_HUMAN	T	392	ENSP00000379258:P392T	ENSP00000379258:P392T	P	-	1	0	GLI3	42032391	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.226000	0.78060	2.788000	0.95919	0.650000	0.86243	CCT		0.587	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		10	10	1	0	4.69e-08	2.53e-07	10	10				
POM121L12	285877	broad.mit.edu	37	7	53104106	53104106	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:53104106T>G	ENST00000408890.4	+	1	758	c.742T>G	c.(742-744)Tgt>Ggt	p.C248G		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	248										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTCAGTTTTTGTGATGATGC	0.632																																						uc003tpz.2		NA																	0					0						c.(742-744)TGT>GGT		POM121 membrane glycoprotein-like 12							50.0	57.0	55.0					7																	53104106		2002	4156	6158	SO:0001583	missense	285877							g.chr7:53104106T>G		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.742T>G	7.37:g.53104106T>G	ENSP00000386133:p.Cys248Gly						p.C248G	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	758	+			248					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.742T>G	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	T	7.396	0.631690	0.14322	.	.	ENSG00000221900	ENST00000408890	T	0.28895	1.59	2.16	-1.75	0.08031	.	.	.	.	.	T	0.20088	0.0483	N	0.22421	0.69	0.09310	N	1	B	0.24920	0.114	B	0.35688	0.208	T	0.42172	-0.9467	9	0.25751	T	0.34	.	5.7849	0.18329	0.0:0.4828:0.0:0.5172	.	248	Q8N7R1	P1L12_HUMAN	G	248	ENSP00000386133:C248G	ENSP00000386133:C248G	C	+	1	0	POM121L12	53071600	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.759000	0.04761	-0.419000	0.07439	-1.215000	0.01618	TGT		0.632	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		5	60	0	0	0	0	5	60				
GRM3	2913	broad.mit.edu	37	7	86394698	86394698	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:86394698C>T	ENST00000361669.2	+	2	1336	c.237C>T	c.(235-237)atC>atT	p.I79I	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Silent_p.I77I|GRM3_ENST00000439827.1_Silent_p.I79I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	79					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TTGATGAAATCAACAAAGATG	0.423																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(235-237)ATC>ATT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						179.0	164.0	169.0					7																	86394698		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86394698C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.237C>T	7.37:g.86394698C>T						GRM3_uc010lef.2_Silent_p.I77I|GRM3_uc010leg.2_Intron|GRM3_uc010leh.2_Intron	p.I79I	NM_000840	NP_000831	Q14832	GRM3_HUMAN			2	1336	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		79			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.237C>T	CCDS5600.1																																																																																				0.423	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			48	120	0	0	0	0	48	120				
ABCB4	5244	broad.mit.edu	37	7	87037431	87037431	+	Silent	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:87037431C>A	ENST00000265723.4	-	25	3312	c.3201G>T	c.(3199-3201)ctG>ctT	p.L1067L	ABCB4_ENST00000358400.3_Silent_p.L1020L|ABCB4_ENST00000453593.1_Silent_p.L1020L|ABCB4_ENST00000359206.3_Silent_p.L1067L|ABCB4_ENST00000545634.1_Silent_p.L1067L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1067	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TGCTGCCCACCAGGGCTAGTG	0.562																																						uc003uiv.1		NA																	0				ovary(4)|skin(1)|pancreas(1)	6						c.(3199-3201)CTG>CTT		ATP-binding cassette, subfamily B, member 4							82.0	82.0	82.0					7																	87037431		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87037431C>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3201G>T	7.37:g.87037431C>A						ABCB4_uc003uiw.1_Silent_p.L1067L|ABCB4_uc003uix.1_Silent_p.L1020L	p.L1067L	NM_018849	NP_061337	P21439	MDR3_HUMAN			25	3277	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1067			ABC transporter 2.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.3201G>T	CCDS5606.1																																																																																				0.562	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		36	112	1	0	4.11e-13	2.29e-12	36	112				
ABCB4	5244	broad.mit.edu	37	7	87069068	87069068	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:87069068C>A	ENST00000265723.4	-	14	1757	c.1646G>T	c.(1645-1647)cGc>cTc	p.R549L	ABCB4_ENST00000358400.3_Missense_Mutation_p.R549L|ABCB4_ENST00000453593.1_Missense_Mutation_p.R549L|ABCB4_ENST00000359206.3_Missense_Mutation_p.R549L|ABCB4_ENST00000545634.1_Missense_Mutation_p.R549L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	549	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CTTGGGGTTGCGAACCAGGGC	0.532																																						uc003uiv.1		NA																	0				ovary(4)|skin(1)|pancreas(1)	6	GRCh37	CM065956	ABCB4	M		c.(1645-1647)CGC>CTC		ATP-binding cassette, subfamily B, member 4							146.0	129.0	135.0					7																	87069068		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87069068C>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1646G>T	7.37:g.87069068C>A	ENSP00000265723:p.Arg549Leu					ABCB4_uc003uiw.1_Missense_Mutation_p.R549L|ABCB4_uc003uix.1_Missense_Mutation_p.R549L	p.R549L	NM_018849	NP_061337	P21439	MDR3_HUMAN			14	1722	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		549			ABC transporter 1.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1646G>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651560	0.88056	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.61	4.74	0.60224	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.87993	0.6318	L	0.33245	0.995	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.993	D;P;D	0.73380	0.98;0.854;0.91	D	0.89317	0.3637	10	0.87932	D	0	-6.9706	14.5473	0.68041	0.0:0.9297:0.0:0.0703	.	549;549;549	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	L	549	ENSP00000352135:R549L;ENSP00000351172:R549L;ENSP00000265723:R549L;ENSP00000392983:R549L;ENSP00000437465:R549L	ENSP00000265723:R549L	R	-	2	0	ABCB4	86907004	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.087000	0.71362	1.371000	0.46172	0.655000	0.94253	CGC		0.532	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		8	131	1	0	0.000274275	0.00137672	8	131				
PIK3CG	5294	broad.mit.edu	37	7	106508169	106508169	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:106508169G>A	ENST00000359195.3	+	2	473	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	PIK3CG_ENST00000440650.2_Missense_Mutation_p.E55K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.E55K	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	55	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAAGAGCCCCGAAACGGCGCT	0.667																																						uc003vdv.3		NA																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(163-165)GAA>AAA		phosphoinositide-3-kinase, catalytic, gamma							28.0	33.0	32.0					7																	106508169		2201	4298	6499	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508169G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.163G>A	7.37:g.106508169G>A	ENSP00000352121:p.Glu55Lys					PIK3CG_uc003vdu.2_Missense_Mutation_p.E55K|PIK3CG_uc003vdw.2_Missense_Mutation_p.E55K	p.E55K	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	248	+			55					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.163G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646688	0.67358	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70282	-0.47;-0.47;-0.47	5.54	5.54	0.83059	.	0.000000	0.50627	D	0.000111	T	0.65533	0.2700	L	0.57536	1.79	0.58432	D	0.999999	P	0.43352	0.804	B	0.33454	0.164	T	0.67787	-0.5580	10	0.35671	T	0.21	-28.6081	18.8304	0.92137	0.0:0.0:1.0:0.0	.	55	P48736	PK3CG_HUMAN	K	55	ENSP00000392258:E55K;ENSP00000419260:E55K;ENSP00000352121:E55K	ENSP00000352121:E55K	E	+	1	0	PIK3CG	106295405	1.000000	0.71417	0.125000	0.21846	0.927000	0.56198	6.190000	0.72057	2.759000	0.94783	0.563000	0.77884	GAA		0.667	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			32	44	0	0	0	0	32	44				
OR9A2	135924	broad.mit.edu	37	7	142724094	142724094	+	Silent	SNP	C	C	T	rs201128692	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:142724094C>T	ENST00000350513.2	-	1	188	c.126G>A	c.(124-126)acG>acA	p.T42T		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					CAATGATGACCGTGTTTCCCA	0.443													C|||	2	0.000399361	0.0	0.0	5008	,	,		22411	0.0		0.001	False		,,,				2504	0.001					uc003wcc.1		NA																	0				skin(1)	1						c.(124-126)ACG>ACA		olfactory receptor, family 9, subfamily A,							116.0	119.0	118.0					7																	142724094		2203	4300	6503	SO:0001819	synonymous_variant	135924				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142724094C>T		CCDS34767.1	7q34	2014-07-10			ENSG00000179468	ENSG00000179468		"""GPCR / Class A : Olfactory receptors"""	15093	protein-coding gene	gene with protein product							Standard	NM_001001658		Approved		uc003wcc.1	Q8NGT5	OTTHUMG00000158386	ENST00000350513.2:c.126G>A	7.37:g.142724094C>T							p.T42T	NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN			1	126	-	Melanoma(164;0.059)		42			Helical; Name=1; (Potential).		B9EH51|Q6IF71|Q8NGD9	Silent	SNP	ENST00000350513.2	37	c.126G>A	CCDS34767.1																																																																																				0.443	OR9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350862.1			13	130	0	0	0	0	13	130				
GBX1	2636	broad.mit.edu	37	7	150846025	150846025	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr7:150846025G>T	ENST00000297537.4	-	2	742	c.743C>A	c.(742-744)gCa>gAa	p.A248E	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	248					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCACCGGTGCCCCCTCCTC	0.597																																						uc011kvg.1		NA																	0					0						c.(742-744)GCA>GAA		gastrulation brain homeo box 1							87.0	99.0	96.0					7																	150846025		1918	4101	6019	SO:0001583	missense	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150846025G>T	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.743C>A	7.37:g.150846025G>T	ENSP00000297537:p.Ala248Glu						p.A248E	NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	975	-			248						Missense_Mutation	SNP	ENST00000297537.4	37	c.743C>A	CCDS43682.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488746	0.44249	.	.	ENSG00000164900	ENST00000297537	D	0.91351	-2.83	5.12	5.12	0.69794	Homeodomain-like (1);	0.466367	0.18857	N	0.129233	T	0.80623	0.4658	N	0.08118	0	0.80722	D	1	B	0.23058	0.079	B	0.24269	0.052	T	0.75822	-0.3182	10	0.07813	T	0.8	-3.9689	17.1344	0.86735	0.0:0.0:1.0:0.0	.	248	Q14549	GBX1_HUMAN	E	248	ENSP00000297537:A248E	ENSP00000297537:A248E	A	-	2	0	GBX1	150476958	0.981000	0.34729	0.097000	0.21041	0.993000	0.82548	2.016000	0.40971	2.398000	0.81561	0.591000	0.81541	GCA		0.597	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			15	161	1	0	1.52e-12	8.45e-12	15	161				
ADAM2	2515	broad.mit.edu	37	8	39624380	39624380	+	Silent	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:39624380G>A	ENST00000265708.4	-	14	1597	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	ADAM2_ENST00000379853.2_Silent_p.D372D|ADAM2_ENST00000347580.4_Silent_p.D479D|ADAM2_ENST00000521880.1_Silent_p.D498D	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	498	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TGCCAAATGTGTCTGTACATT	0.363																																						uc003xnj.2		NA																	0				ovary(1)|lung(1)	2						c.(1492-1494)GAC>GAT		ADAM metallopeptidase domain 2 proprotein							127.0	127.0	127.0					8																	39624380		2203	4300	6503	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624380G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1494C>T	8.37:g.39624380G>A						ADAM2_uc003xnk.2_Silent_p.D479D|ADAM2_uc011lck.1_Silent_p.D498D|ADAM2_uc003xnl.2_Silent_p.D372D	p.D498D	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1569	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	498			Extracellular (Potential).|Cys-rich.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1494C>T	CCDS34884.1																																																																																				0.363	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		10	71	0	0	0	0	10	71				
RP1	6101	broad.mit.edu	37	8	55534743	55534743	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:55534743A>T	ENST00000220676.1	+	3	830	c.682A>T	c.(682-684)Aaa>Taa	p.K228*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	228	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGAGCCATTTAAACCAGGAAA	0.493																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(682-684)AAA>TAA		retinitis pigmentosa RP1 protein							79.0	78.0	78.0					8																	55534743		2203	4300	6503	SO:0001587	stop_gained	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55534743A>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.682A>T	8.37:g.55534743A>T	ENSP00000220676:p.Lys228*					RP1_uc011ldy.1_Nonsense_Mutation_p.K228*	p.K228*	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		3	830	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	228			Doublecortin 2.			Nonsense_Mutation	SNP	ENST00000220676.1	37	c.682A>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	39	7.443931	0.98289	.	.	ENSG00000104237	ENST00000427058;ENST00000220676	.	.	.	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.71	0.77620	1.0:0.0:0.0:0.0	.	.	.	.	X	38;228	.	ENSP00000220676:K228X	K	+	1	0	RP1	55697296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.642000	0.67888	2.105000	0.64084	0.533000	0.62120	AAA		0.493	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		12	21	0	0	0	0	12	21				
PEX2	5828	broad.mit.edu	37	8	77896342	77896342	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:77896342G>T	ENST00000419564.2	-	4	537	c.73C>A	c.(73-75)Cta>Ata	p.L25I	PEX2_ENST00000520103.1_Missense_Mutation_p.L25I|PEX2_ENST00000522527.1_Missense_Mutation_p.L25I|PEX2_ENST00000357039.4_Missense_Mutation_p.L25I	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	25					bile acid biosynthetic process (GO:0006699)|cholesterol homeostasis (GO:0042632)|fatty acid beta-oxidation (GO:0006635)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein destabilization (GO:0031648)|protein import into peroxisome matrix (GO:0016558)|regulation of cholesterol biosynthetic process (GO:0045540)|very long-chain fatty acid metabolic process (GO:0000038)	Cdc73/Paf1 complex (GO:0016593)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						GCCTTGTTTAGTTCAAGTGCA	0.458																																						uc003yax.2		NA																	0				ovary(1)	1						c.(73-75)CTA>ATA		peroxin 2							134.0	130.0	131.0					8																	77896342		2203	4300	6503	SO:0001583	missense	5828				peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	g.chr8:77896342G>T	M86852	CCDS6221.1	8q21.11	2010-02-09	2010-01-25	2010-01-25		ENSG00000164751		"""RING-type (C3HC4) zinc fingers"""	9717	protein-coding gene	gene with protein product	"""Zellweger syndrome"", ""peroxin 2"""	170993	"""peroxisomal membrane protein 3 (35kD, Zellweger syndrome)"", ""peroxisomal membrane protein 3, 35kDa"""	PXMP3		1546315, 8858157	Standard	NM_000318		Approved	PMP35, PAF-1, RNF72, ZWS3	uc022awf.1	P28328		ENST00000419564.2:c.73C>A	8.37:g.77896342G>T	ENSP00000400984:p.Leu25Ile					PEX2_uc003yay.2_Missense_Mutation_p.L25I|PEX2_uc003yaz.2_Missense_Mutation_p.L25I	p.L25I	NM_000318	NP_000309	P28328	PEX2_HUMAN			4	531	-			25					Q567S6|Q9BW41	Missense_Mutation	SNP	ENST00000419564.2	37	c.73C>A	CCDS6221.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162787	0.78226	.	.	ENSG00000164751	ENST00000357039;ENST00000419564;ENST00000520103;ENST00000522527;ENST00000518986	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	D	0.84047	0.5386	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85649	0.1281	10	0.72032	D	0.01	-10.3511	10.3576	0.43974	0.1451:0.0:0.8549:0.0	.	25	P28328	PEX2_HUMAN	I	25	ENSP00000349543:L25I;ENSP00000400984:L25I;ENSP00000428590:L25I;ENSP00000428638:L25I	ENSP00000349543:L25I	L	-	1	2	PEX2	78058897	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.612000	0.61169	2.717000	0.92951	0.563000	0.77884	CTA		0.458	PEX2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379122.1	NM_000318		6	87	1	0	3.6e-05	0.000186054	6	87				
LRRCC1	85444	broad.mit.edu	37	8	86027454	86027454	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:86027454G>A	ENST00000360375.3	+	5	813	c.664G>A	c.(664-666)Ggt>Agt	p.G222S	LRRCC1_ENST00000414626.2_Missense_Mutation_p.G202S	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	222					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GTGCCTAGAAGGTCTTTTGGA	0.328																																						uc003ycw.2		NA																	0					0						c.(664-666)GGT>AGT		sodium channel associated protein 2 isoform a							86.0	88.0	88.0					8																	86027454		1814	4076	5890	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86027454G>A	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.664G>A	8.37:g.86027454G>A	ENSP00000353538:p.Gly222Ser					LRRCC1_uc010lzz.1_Intron|LRRCC1_uc010maa.1_Intron|LRRCC1_uc003ycx.2_Missense_Mutation_p.G129S|LRRCC1_uc003ycy.2_Missense_Mutation_p.G202S	p.G222S	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			5	818	+			222					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.664G>A	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472201	0.43942	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.31247	1.5;1.5	5.52	3.71	0.42584	.	0.186913	0.26366	N	0.024791	T	0.25195	0.0612	L	0.42245	1.32	0.27751	N	0.944146	B;B;B	0.23185	0.059;0.081;0.036	B;B;B	0.23018	0.043;0.028;0.007	T	0.12734	-1.0536	10	0.31617	T	0.26	-10.1709	10.8949	0.47017	0.1493:0.0:0.8507:0.0	.	202;129;222	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	S	129;222;202	ENSP00000353538:G222S;ENSP00000394695:G202S	ENSP00000353538:G222S	G	+	1	0	LRRCC1	86214706	1.000000	0.71417	0.998000	0.56505	0.763000	0.43281	4.232000	0.58645	1.331000	0.45412	0.460000	0.39030	GGT		0.328	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		27	42	0	0	0	0	27	42				
DCAF4L2	138009	broad.mit.edu	37	8	88885295	88885295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:88885295G>A	ENST00000319675.3	-	1	1001	c.905C>T	c.(904-906)aCt>aTt	p.T302I		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	302										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TACACATTTAGTGGCCCTCAA	0.512																																						uc003ydz.2		NA																	0				ovary(1)	1						c.(904-906)ACT>ATT		WD repeat domain 21C							112.0	101.0	105.0					8																	88885295		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885295G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.905C>T	8.37:g.88885295G>A	ENSP00000316496:p.Thr302Ile						p.T302I	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	1002	-			302			WD 1.			Missense_Mutation	SNP	ENST00000319675.3	37	c.905C>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286057	0.40394	.	.	ENSG00000176566	ENST00000319675	T	0.22743	1.94	1.92	0.792	0.18625	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.707054	0.14660	N	0.306013	T	0.18759	0.0450	L	0.54323	1.7	0.09310	N	0.99999	B	0.29936	0.262	B	0.32533	0.147	T	0.17379	-1.0371	10	0.42905	T	0.14	.	6.4474	0.21883	0.0:0.0:0.5605:0.4395	.	302	Q8NA75	DC4L2_HUMAN	I	302	ENSP00000316496:T302I	ENSP00000316496:T302I	T	-	2	0	DCAF4L2	88954411	0.000000	0.05858	0.060000	0.19600	0.350000	0.29205	-0.089000	0.11180	0.750000	0.32877	0.467000	0.42956	ACT		0.512	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		21	29	0	0	0	0	21	29				
FAM135B	51059	broad.mit.edu	37	8	139190886	139190886	+	Silent	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:139190886C>A	ENST00000395297.1	-	10	1091	c.921G>T	c.(919-921)ctG>ctT	p.L307L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	307										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGAGCCAGGCCAGATCCTTGC	0.512										HNSCC(54;0.14)																												uc003yuy.2		NA																	0				ovary(7)|skin(2)	9						c.(919-921)CTG>CTT		hypothetical protein LOC51059							144.0	141.0	142.0					8																	139190886		2049	4195	6244	SO:0001819	synonymous_variant	51059							g.chr8:139190886C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.921G>T	8.37:g.139190886C>A		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.L208L|FAM135B_uc003yuz.2_RNA	p.L307L	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		10	1092	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		307					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.921G>T	CCDS6375.2																																																																																				0.512	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		16	31	1	0	7.08e-05	0.000363436	16	31				
KIFC2	90990	broad.mit.edu	37	8	145694974	145694974	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr8:145694974C>T	ENST00000301332.2	+	12	1701	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	KIFC2_ENST00000301331.5_Missense_Mutation_p.R190C	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	442	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTACCGGGGGCGCCATCGTCG	0.612																																						uc003zcz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1324-1326)CGC>TGC		kinesin family member C2							56.0	53.0	54.0					8																	145694974		2203	4300	6503	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145694974C>T	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1324C>T	8.37:g.145694974C>T	ENSP00000301332:p.Arg442Cys					KIFC2_uc003zda.2_5'Flank	p.R442C	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		12	1389	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		442			Kinesin-motor.		E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.1324C>T	CCDS6427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.51|17.51	3.407873|3.407873	0.62399|0.62399	.|.	.|.	ENSG00000167702|ENSG00000167702	ENST00000528415|ENST00000301332;ENST00000301331	.|T;T	.|0.76186	.|-1.0;-1.0	4.89|4.89	2.96|2.96	0.34315|0.34315	.|Kinesin, motor domain (4);	.|0.253502	.|0.20918	.|N	.|0.083323	T|T	0.77260|0.77260	0.4104|0.4104	L|L	0.61036|0.61036	1.89|1.89	0.09310|0.09310	N|N	0.999998|0.999998	.|D	.|0.61080	.|0.989	.|P	.|0.57548	.|0.823	T|T	0.67098|0.67098	-0.5756|-0.5756	5|10	.|0.87932	.|D	.|0	-7.5836|-7.5836	5.2935|5.2935	0.15739|0.15739	0.3202:0.5808:0.0:0.099|0.3202:0.5808:0.0:0.099	.|.	.|442	.|Q96AC6	.|KIFC2_HUMAN	V|C	262|442;190	.|ENSP00000301332:R442C;ENSP00000301331:R190C	.|ENSP00000301331:R190C	A|R	+|+	2|1	0|0	KIFC2|KIFC2	145665782|145665782	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.884000|0.884000	0.51177|0.51177	1.571000|1.571000	0.36450|0.36450	1.058000|1.058000	0.40530|0.40530	0.591000|0.591000	0.81541|0.81541	GCG|CGC		0.612	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		9	38	0	0	0	0	9	38				
PDCL	5082	broad.mit.edu	37	9	125585307	125585307	+	Silent	SNP	C	C	T			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:125585307C>T	ENST00000259467.4	-	3	507	c.342G>A	c.(340-342)aaG>aaA	p.K114K		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	114					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TCCCACTGATCTTCTCCTGGA	0.493																																						uc004bmz.1		NA																	0					0						c.(340-342)AAG>AAA		phosducin-like							254.0	209.0	224.0					9																	125585307		2203	4300	6503	SO:0001819	synonymous_variant	5082				signal transduction|visual perception			g.chr9:125585307C>T	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.342G>A	9.37:g.125585307C>T						PDCL_uc004bna.2_Silent_p.K114K	p.K114K	NM_005388	NP_005379	Q13371	PHLP_HUMAN			3	438	-			114					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Silent	SNP	ENST00000259467.4	37	c.342G>A	CCDS6845.1	.	.	.	.	.	.	.	.	.	.	C	9.198	1.027833	0.19512	.	.	ENSG00000136940	ENST00000436632;ENST00000394285	.	.	.	5.98	3.91	0.45181	.	.	.	.	.	T	0.56001	0.1956	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53287	-0.8460	4	.	.	.	-35.0795	6.7755	0.23617	0.0:0.7048:0.0:0.2952	.	.	.	.	N	81;103	.	.	D	-	1	0	PDCL	124625128	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.430000	0.21428	1.509000	0.48786	0.563000	0.77884	GAT		0.493	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		5	147	0	0	0	0	5	147				
GOLGA2	2801	broad.mit.edu	37	9	131022971	131022971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:131022971G>A	ENST00000421699.2	-	17	1462	c.1450C>T	c.(1450-1452)Caa>Taa	p.Q484*	AL590708.1_ENST00000408370.1_RNA|GOLGA2_ENST00000609374.1_Nonsense_Mutation_p.Q472*	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	484					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ACCTGGGCTTGAAGCTGTCCT	0.682																																						uc011maw.1		NA																	0				ovary(1)	1						c.(1450-1452)CAA>TAA		Golgi autoantigen, golgin subfamily a, 2							32.0	36.0	35.0					9																	131022971		2203	4300	6503	SO:0001587	stop_gained	2801					Golgi cisterna membrane	protein binding	g.chr9:131022971G>A	L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1450C>T	9.37:g.131022971G>A	ENSP00000416097:p.Gln484*					GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'UTR|uc004bun.2_5'Flank	p.Q484*	NM_004486	NP_004477	Q08379	GOGA2_HUMAN			17	1463	-			484			Potential.		Q6GRM9|Q9BRB0|Q9NYF9	Nonsense_Mutation	SNP	ENST00000421699.2	37	c.1450C>T	CCDS6896.2	.	.	.	.	.	.	.	.	.	.	g	37	6.520311	0.97633	.	.	ENSG00000167110	ENST00000421699	.	.	.	5.3	3.36	0.38483	.	0.376195	0.30620	N	0.009236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.1737	0.72894	0.0:0.2684:0.7316:0.0	.	.	.	.	X	484	.	ENSP00000416097:Q484X	Q	-	1	0	GOLGA2	130062792	0.867000	0.29959	0.001000	0.08648	0.938000	0.57974	2.369000	0.44231	0.551000	0.29008	0.305000	0.20034	CAA		0.682	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2	NM_004486		23	54	0	0	0	0	23	54				
SET	6418	broad.mit.edu	37	9	131456200	131456200	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:131456200G>C	ENST00000372692.4	+	7	969	c.728G>C	c.(727-729)gGa>gCa	p.G243A	SET_ENST00000477806.1_3'UTR|SET_ENST00000372688.4_Missense_Mutation_p.G219A|SET_ENST00000322030.8_Missense_Mutation_p.G230A|SET_ENST00000409104.3_Missense_Mutation_p.G221A	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene	243	Asp/Glu-rich (highly acidic).				DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		GATgaagaaggagaaggagaa	0.368			T	NUP214	AML																																	uc004bvt.3		NA		Dom	yes		9	9q34	6418	T	SET translocation			L	NUP214		AML		0					0						c.(727-729)GGA>GCA		SET translocation (myeloid leukemia-associated)							57.0	58.0	58.0					9																	131456200		2116	4021	6137	SO:0001583	missense	6418				DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	g.chr9:131456200G>C	M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"""protein phosphatase type 2A inhibitor"", ""Template-Activating Factor-I, chromatin remodelling factor"""	600960	"""SET translocation (myeloid leukemia-associated)"""			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.728G>C	9.37:g.131456200G>C	ENSP00000361777:p.Gly243Ala					SET_uc004bvu.3_Missense_Mutation_p.G230A|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.G219A	p.G243A	NM_001122821	NP_001116293	Q01105	SET_HUMAN		GBM - Glioblastoma multiforme(294;3.1e-09)	7	969	+		Myeloproliferative disorder(178;0.204)	243			Asp/Glu-rich (highly acidic).		A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	Missense_Mutation	SNP	ENST00000372692.4	37	c.728G>C	CCDS48037.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809097	0.50421	.	.	ENSG00000119335	ENST00000372692;ENST00000409104;ENST00000322030;ENST00000372688;ENST00000372686	T;T;T;T;T	0.36520	1.25;3.17;1.28;3.17;3.17	5.41	5.41	0.78517	.	0.173935	0.49916	D	0.000135	T	0.45955	0.1368	N	0.25647	0.755	0.80722	D	1	B;D;B	0.76494	0.003;0.999;0.007	B;D;B	0.80764	0.002;0.994;0.008	T	0.36768	-0.9734	10	0.46703	T	0.11	.	13.5307	0.61621	0.0:0.1564:0.8436:0.0	.	219;230;243	A6NGV1;Q01105-2;Q01105	.;.;SET_HUMAN	A	243;221;230;219;218	ENSP00000361777:G243A;ENSP00000387321:G221A;ENSP00000318012:G230A;ENSP00000361773:G219A;ENSP00000361771:G218A	ENSP00000318012:G230A	G	+	2	0	SET	130496021	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	5.651000	0.67951	2.549000	0.85964	0.561000	0.74099	GGA		0.368	SET-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054476.2	NM_001122821		6	39	0	0	0	0	6	39				
OBP2B	29989	broad.mit.edu	37	9	136081795	136081795	+	Missense_Mutation	SNP	A	A	G	rs1132279	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:136081795A>G	ENST00000372034.3	-	5	438	c.397T>C	c.(397-399)Tct>Cct	p.S133P	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372032.2_3'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	133					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)	p.S133P(2)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		TTGGTATCAGAATTCCTACCT	0.612													A|||	2	0.000399361	0.0008	0.0	5008	,	,		15717	0.001		0.0	False		,,,				2504	0.0					uc004ccz.2		NA																	2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)		0						c.(397-399)TCT>CCT		odorant binding protein 2B precursor							79.0	74.0	76.0					9																	136081795		2203	4300	6503	SO:0001583	missense	29989				chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:136081795A>G	AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.397T>C	9.37:g.136081795A>G	ENSP00000361104:p.Ser133Pro					OBP2B_uc010nad.2_RNA|OBP2B_uc011mcy.1_Missense_Mutation_p.S65P	p.S133P	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)	5	439	-			133					Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	ENST00000372034.3	37	c.397T>C	CCDS6961.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.130056	0.00338	.	.	ENSG00000171102	ENST00000372034	T	0.05855	3.38	2.38	-0.713	0.11223	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.411595	0.17841	N	0.160204	T	0.01029	0.0034	N	0.00215	-1.835	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44452	-0.9327	10	0.02654	T	1	-11.4445	5.2433	0.15483	0.4751:0.0:0.5249:0.0	rs1132279;rs3192931	133	Q9NPH6	OBP2B_HUMAN	P	133	ENSP00000361104:S133P	ENSP00000361104:S133P	S	-	1	0	OBP2B	135071616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.006000	0.13152	-0.185000	0.10550	-1.067000	0.02272	TCT		0.612	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054851.1	NM_014581		3	46	0	0	0	0	3	46				
SARDH	1757	broad.mit.edu	37	9	136573442	136573442	+	Silent	SNP	G	G	A	rs375793962		TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr9:136573442G>A	ENST00000371872.4	-	11	1694	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	SARDH_ENST00000422262.2_Silent_p.A311A|SARDH_ENST00000439388.1_Silent_p.A479A	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	479					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGTTGCGCCCGGCCAGCGGCT	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17338	0.0		0.0	False		,,,				2504	0.0					uc004cep.3		NA																	0					0						c.(1435-1437)GCC>GCT		sarcosine dehydrogenase precursor		G	,	0,4406		0,0,2203	87.0	83.0	85.0		1437,1437	-10.3	0.1	9		85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SARDH	NM_001134707.1,NM_007101.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	479/919,479/919	136573442	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1757				glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	g.chr9:136573442G>A		CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1437C>T	9.37:g.136573442G>A						SARDH_uc004ceo.2_Silent_p.A479A|SARDH_uc011mdn.1_Silent_p.A479A|SARDH_uc011mdo.1_Silent_p.A311A	p.A479A	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)	11	1571	-			479					B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	c.1437C>T	CCDS6978.1																																																																																				0.657	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			7	73	0	0	0	0	7	73				
DLG3	1741	broad.mit.edu	37	X	69673592	69673592	+	Silent	SNP	A	A	G			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:69673592A>G	ENST00000374360.3	+	8	1484	c.1251A>G	c.(1249-1251)ggA>ggG	p.G417G	RNU4-81P_ENST00000363561.1_RNA|DLG3_ENST00000542398.1_5'Flank|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000194900.4_Silent_p.G435G|DLG3_ENST00000374355.3_Silent_p.G80G|DLG3-AS1_ENST00000431103.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	417	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TCCTGGCAGGAGGCCCAGCTG	0.567																																						uc004dyi.1		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1249-1251)GGA>GGG		synapse-associated protein 102 isoform a							57.0	46.0	50.0					X																	69673592		2203	4299	6502	SO:0001819	synonymous_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69673592A>G	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1251A>G	X.37:g.69673592A>G						DLG3_uc004dyj.1_Silent_p.G80G|DLG3_uc011mpn.1_5'Flank	p.G417G	NM_021120	NP_066943	Q92796	DLG3_HUMAN			8	1579	+	Renal(35;0.156)		417			PDZ 3.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Silent	SNP	ENST00000374360.3	37	c.1251A>G	CCDS14403.1																																																																																				0.567	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		2	6	0	0	0	0	2	6				
BTK	695	broad.mit.edu	37	X	100617676	100617676	+	Splice_Site	SNP	T	T	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:100617676T>A	ENST00000308731.7	-	6	556	c.393A>T	c.(391-393)gtA>gtT	p.V131V	BTK_ENST00000372880.1_Splice_Site_p.V131V	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	131	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTACCGGATTACTGTAGCAG	0.458									Agammaglobulinemia, X-linked																													uc004ehg.2		NA																	0				lung(3)|central_nervous_system(2)|ovary(1)	6						c.(391-393)GTA>GTT		Bruton agammaglobulinemia tyrosine kinase							144.0	135.0	138.0					X																	100617676		2203	4300	6503	SO:0001630	splice_region_variant	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100617676T>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.392-1A>T	X.37:g.100617676T>A						BTK_uc010nnn.2_Silent_p.V131V|BTK_uc010nno.2_Silent_p.V165V|BTK_uc004ehi.2_Silent_p.V131V	p.V131V	NM_000061	NP_000052	Q06187	BTK_HUMAN			6	586	-			131			PH.		B2RAW1|Q32ML5	Silent	SNP	ENST00000308731.7	37	c.393A>T	CCDS14482.1																																																																																				0.458	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	Silent	6	95	0	0	0	0	6	95				
BTK	695	broad.mit.edu	37	X	100617678	100617678	+	Splice_Site	SNP	C	C	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:100617678C>A	ENST00000308731.7	-	6	555		c.e6-1		BTK_ENST00000372880.1_Splice_Site	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase						adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TACCGGATTACTGTAGCAGGA	0.463									Agammaglobulinemia, X-linked																													uc004ehg.2		NA																	0				lung(3)|central_nervous_system(2)|ovary(1)	6	GRCh37	CS004682	BTK	S		c.e6-1		Bruton agammaglobulinemia tyrosine kinase							142.0	134.0	137.0					X																	100617678		2203	4300	6503	SO:0001630	splice_region_variant	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100617678C>A	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.392-1G>T	X.37:g.100617678C>A						BTK_uc010nnn.2_Splice_Site_p.V131_splice|BTK_uc010nno.2_Splice_Site_p.V165_splice|BTK_uc004ehi.2_Splice_Site_p.V131_splice	p.V131_splice	NM_000061	NP_000052	Q06187	BTK_HUMAN			6	585	-								B2RAW1|Q32ML5	Splice_Site	SNP	ENST00000308731.7	37	c.392_splice	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360133	0.41801	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6015	0.91249	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BTK	100504334	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	7.487000	0.81328	2.336000	0.79503	0.529000	0.55759	.		0.463	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061	Intron	6	92	1	0	0.00116845	0.0057898	6	92				
AGTR2	186	broad.mit.edu	37	X	115304382	115304382	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:115304382G>C	ENST00000371906.4	+	3	1039	c.849G>C	c.(847-849)tgG>tgC	p.W283C		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	283					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	CTCTGGCCTGGATGGGTGTCA	0.507																																						uc004eqh.3		NA																	0				ovary(2)|lung(1)	3						c.(847-849)TGG>TGC		angiotensin II receptor, type 2							253.0	188.0	210.0					X																	115304382		2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115304382G>C	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.849G>C	X.37:g.115304382G>C	ENSP00000360973:p.Trp283Cys						p.W283C	NM_000686	NP_000677	P50052	AGTR2_HUMAN			3	1056	+			283			Extracellular (Potential).		B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.849G>C	CCDS14569.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478260	0.26511	.	.	ENSG00000180772	ENST00000371906	T	0.71698	-0.59	4.74	3.88	0.44766	GPCR, rhodopsin-like superfamily (1);	0.568668	0.17889	N	0.158564	T	0.80549	0.4644	M	0.76838	2.35	0.49915	D	0.999832	D	0.61697	0.99	D	0.67231	0.95	T	0.79533	-0.1764	10	0.72032	D	0.01	-2.7132	6.3589	0.21417	0.2203:0.0:0.7797:0.0	.	283	P50052	AGTR2_HUMAN	C	283	ENSP00000360973:W283C	ENSP00000360973:W283C	W	+	3	0	AGTR2	115218410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.692000	0.25482	1.017000	0.39495	0.502000	0.49764	TGG		0.507	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		11	84	0	0	0	0	11	84				
KMT2D	8085	broad.mit.edu	37	12	49431982	49431983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr12:49431982_49431983insA	ENST00000301067.7	-	34	9155_9156	c.9156_9157insT	c.(9154-9159)tatactfs	p.T3053fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3053					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T2783fs*1(1)|p.T3053fs*1(1)									TCAGGATCAGTATATGCCAGCA	0.52																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		2	Deletion - Frameshift(2)		haematopoietic_and_lymphoid_tissue(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(9154-9159)TATACTfs		myeloid/lymphoid or mixed-lineage leukemia 2																																				SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49431982_49431983insA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9157dupT	12.37:g.49431983_49431983dupA	ENSP00000301067:p.Thr3053fs	HNSCC(34;0.089)					p.Y3052fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			34	9156_9157	-			3052_3053					O14687	Frame_Shift_Ins	INS	ENST00000301067.7	37	c.9156_9157insT	CCDS44873.1																																																																																				0.520	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			18	38	NA	NA	NA	NA	18	38	---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107040930	107040931	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr2:107040930_107040931insA	ENST00000409886.3	-	20	3579_3580	c.3492_3493insT	c.(3490-3495)tttgagfs	p.E1165fs	RGPD3_ENST00000304514.7_Frame_Shift_Ins_p.E1165fs	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1165	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGGCATTCCTCAAATTTCTGCT	0.436																																						uc010ywi.1		NA																	0				ovary(1)	1						c.(3490-3495)TTTGAGfs		RANBP2-like and GRIP domain containing 3																																				SO:0001589	frameshift_variant	653489				intracellular transport		binding	g.chr2:107040930_107040931insA		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3493dupT	2.37:g.107040933_107040933dupA	ENSP00000386588:p.Glu1165fs						p.F1164fs	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			20	3549_3550	-			1164_1165			RanBD1 1.		B8ZZM4	Frame_Shift_Ins	INS	ENST00000409886.3	37	c.3492_3493insT	CCDS46379.1																																																																																				0.436	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		74	75	NA	NA	NA	NA	74	75	---	---	---	---
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-	rs570105218	byFrequency	TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_ENST00000394142.3_In_Frame_Del_p.17_18LL>L	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	17					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695																																						uc003ota.3		NA																	1	Deletion - In frame(1)		central_nervous_system(1)	ovary(1)	1						c.(49-54)TTGCTG>TTG		trinucleotide repeat containing 5 precursor																																				SO:0001651	inframe_deletion	10695				innate immune response	endoplasmic reticulum		g.chr6:42897358_42897360delTGC	U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.50_52delTGC	6.37:g.42897367_42897369delTGC	ENSP00000361926:p.Leu25del					CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_In_Frame_Del_p.17_18LL>L|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_5'UTR	p.17_18LL>L	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		1	499_501	+	Colorectal(47;0.196)		17_18					O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	In_Frame_Del	DEL	ENST00000372836.4	37	c.50_52delTGC	CCDS4875.1																																																																																				0.695	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040564.1	NM_006586		2	4	NA	NA	NA	NA	2	4	---	---	---	---
TCEAL3	85012	broad.mit.edu	37	X	102864401	102864403	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7261-01A-11D-2012-08	TCGA-CV-7261-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fa7bc79-d05b-41da-8bcc-8d5ad4451b0c	b34ad9ae-e439-49c1-9512-daedfc15ed13	g.chrX:102864401_102864403delGAG	ENST00000372628.1	+	3	767_769	c.409_411delGAG	c.(409-411)gagdel	p.E138del	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_In_Frame_Del_p.E138del|TCEAL3_ENST00000243286.3_In_Frame_Del_p.E138del			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						TCTGAGCAGTGAGGAGATGATGA	0.478																																						uc004ekq.2		NA																	0					0						c.(409-411)GAGdel		transcription elongation factor A (SII)-like 3																																				SO:0001651	inframe_deletion	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864401_102864403delGAG	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.409_411delGAG	X.37:g.102864404_102864406delGAG	ENSP00000361711:p.Glu138del					TCEAL3_uc004ekr.2_In_Frame_Del_p.E138del	p.E138del	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN			3	671_673	+			138					D3DXA4	In_Frame_Del	DEL	ENST00000372628.1	37	c.409_411delGAG	CCDS14511.1																																																																																				0.478	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		62	57	NA	NA	NA	NA	62	57	---	---	---	---
