#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
EMC1	23065	broad.mit.edu	37	1	19565777	19565777	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:19565777G>A	ENST00000477853.1	-	9	1016	c.974C>T	c.(973-975)gCc>gTc	p.A325V	EMC1_ENST00000375208.3_Missense_Mutation_p.A303V|EMC1_ENST00000375199.3_Missense_Mutation_p.A325V|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	325						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CCCAGTGGTGGCAAAGCTCAC	0.542																																						uc001bbo.2																			0				ovary(1)	1						c.(973-975)GCC>GTC		hypothetical protein LOC23065 precursor							96.0	89.0	91.0					1																	19565777		2203	4300	6503	SO:0001583	missense	23065					integral to membrane	protein binding	g.chr1:19565777G>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.974C>T	1.37:g.19565777G>A	ENSP00000420608:p.Ala325Val					KIAA0090_uc001bbp.2_Missense_Mutation_p.A325V|KIAA0090_uc001bbq.2_Missense_Mutation_p.A325V|KIAA0090_uc001bbr.2_Missense_Mutation_p.A303V	p.A325V	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	9	1017	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	325			Extracellular (Potential).		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.974C>T	CCDS190.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977911	0.74360	.	.	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.25414	1.8;1.8;1.81	5.81	3.8	0.43715	.	0.094457	0.64402	D	0.000001	T	0.33118	0.0852	L	0.55481	1.735	0.80722	D	1	P;P;P;P	0.43477	0.675;0.493;0.808;0.709	P;B;P;B	0.48627	0.503;0.295;0.584;0.379	T	0.05971	-1.0853	10	0.21540	T	0.41	-16.8724	15.4327	0.75116	0.0:0.2808:0.7192:0.0	.	303;325;325;325	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	V	325;325;303	ENSP00000420608:A325V;ENSP00000364345:A325V;ENSP00000364354:A303V	ENSP00000364345:A325V	A	-	2	0	KIAA0090	19438364	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.536000	0.53582	1.436000	0.47453	0.655000	0.94253	GCC		0.542	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047	
PLA2G2F	64600	broad.mit.edu	37	1	20470022	20470022	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:20470022G>A	ENST00000375102.3	+	3	355	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	42					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCTGTCCTTCGTGGGCTACGG	0.637																																						uc009vpp.1																			0				ovary(1)	1						c.(253-255)GTG>ATG		phospholipase A2, group IIF							93.0	78.0	83.0					1																	20470022		2203	4300	6503	SO:0001583	missense	64600				lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	g.chr1:20470022G>A	AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.253G>A	1.37:g.20470022G>A	ENSP00000364243:p.Val85Met						p.V85M	NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	351	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	42					Q5R385|Q8N217|Q9H506	Missense_Mutation	SNP	ENST00000375102.3	37	c.253G>A	CCDS204.2	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608062	0.66558	.	.	ENSG00000158786	ENST00000375102	D	0.82619	-1.63	5.25	5.25	0.73442	.	0.250311	0.28125	N	0.016516	T	0.79890	0.4524	L	0.35414	1.06	0.36744	D	0.882401	D	0.61080	0.989	P	0.49085	0.6	T	0.82041	-0.0654	10	0.33940	T	0.23	-27.9794	14.3399	0.66619	0.0:0.0:1.0:0.0	.	85	Q9BZM2-2	.	M	85	ENSP00000364243:V85M	ENSP00000364243:V85M	V	+	1	0	PLA2G2F	20342609	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	1.705000	0.37867	2.431000	0.82371	0.563000	0.77884	GTG		0.637	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819	
SPTA1	6708	broad.mit.edu	37	1	158626392	158626392	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:158626392T>A	ENST00000368147.4	-	20	3040	c.2860A>T	c.(2860-2862)Agt>Tgt	p.S954C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	954					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTTCATACTGTCTCCAAAT	0.408																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2860-2862)AGT>TGT		spectrin, alpha, erythrocytic 1							171.0	173.0	172.0					1																	158626392		1853	4088	5941	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158626392T>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2860A>T	1.37:g.158626392T>A	ENSP00000357129:p.Ser954Cys						p.S954C	NM_003126	NP_003117	P02549	SPTA1_HUMAN			20	3059	-	all_hematologic(112;0.0378)		954			Spectrin 10.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2860A>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.175678	0.78564	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	5.5	5.5	0.81552	.	0.000000	0.37577	N	0.002031	T	0.58836	0.2150	M	0.71036	2.16	0.45791	D	0.998677	D	0.89917	1.0	D	0.79108	0.992	T	0.58645	-0.7600	10	0.37606	T	0.19	.	14.5891	0.68351	0.0:0.0:0.0:1.0	.	954	P02549	SPTA1_HUMAN	C	954	ENSP00000357130:S954C;ENSP00000357129:S954C	ENSP00000357129:S954C	S	-	1	0	SPTA1	156893016	1.000000	0.71417	0.880000	0.34516	0.627000	0.37826	6.684000	0.74538	2.308000	0.77769	0.533000	0.62120	AGT		0.408	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
LY9	4063	broad.mit.edu	37	1	160793477	160793477	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:160793477A>G	ENST00000263285.6	+	8	1751	c.1721A>G	c.(1720-1722)gAc>gGc	p.D574G	LY9_ENST00000368037.5_Missense_Mutation_p.D560G|LY9_ENST00000368040.1_Missense_Mutation_p.D212G|LY9_ENST00000368041.2_Missense_Mutation_p.D444G|LY9_ENST00000392203.4_Missense_Mutation_p.D484G|LY9_ENST00000341032.4_Missense_Mutation_p.D440G			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	574					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGGACATGACCCAGCCCCT	0.537																																						uc001fwu.2																			0				ovary(1)	1						c.(1720-1722)GAC>GGC		lymphocyte antigen 9 isoform a							168.0	158.0	162.0					1																	160793477		2203	4300	6503	SO:0001583	missense	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160793477A>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1721A>G	1.37:g.160793477A>G	ENSP00000263285:p.Asp574Gly					LY9_uc001fwv.2_Missense_Mutation_p.D560G|LY9_uc001fww.2_Missense_Mutation_p.D484G|LY9_uc001fwx.2_Missense_Mutation_p.D484G|LY9_uc001fwy.1_Missense_Mutation_p.D372G|LY9_uc001fwz.2_Missense_Mutation_p.D212G	p.D574G	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		8	1771	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		574			Cytoplasmic (Potential).		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	ENST00000263285.6	37	c.1721A>G	CCDS30916.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129274	0.37533	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000368040;ENST00000263285;ENST00000392203;ENST00000368037;ENST00000368036;ENST00000368035	T;T;T;T	0.39056	1.1;2.25;1.12;2.25	2.85	1.67	0.24075	.	.	.	.	.	T	0.27629	0.0679	L	0.52573	1.65	0.09310	N	1	B;D;D;D;D;P	0.64830	0.392;0.978;0.994;0.994;0.972;0.953	B;P;P;P;P;B	0.53549	0.166;0.563;0.729;0.729;0.592;0.388	T	0.04427	-1.0952	9	0.42905	T	0.14	-8.2569	6.1796	0.20463	0.741:0.259:0.0:0.0	.	212;520;444;440;560;574	Q5VYI1;Q5VYH7;Q5VYH9;E7EME5;Q9HBG7-2;Q9HBG7	.;.;.;.;.;LY9_HUMAN	G	574;440;212;574;444;520;342;212	ENSP00000342921:D440G;ENSP00000357019:D212G;ENSP00000263285:D574G;ENSP00000357014:D212G	ENSP00000263285:D574G	D	+	2	0	LY9	159060101	0.001000	0.12720	0.003000	0.11579	0.004000	0.04260	0.610000	0.24253	0.452000	0.26830	0.379000	0.24179	GAC		0.537	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348	
CEP350	9857	broad.mit.edu	37	1	179972355	179972355	+	Silent	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:179972355G>A	ENST00000367607.3	+	7	1483	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	355					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGGGAAAGTGTGGCAGGAGG	0.373																																						uc001gnt.2																			0				ovary(4)	4						c.(1063-1065)GTG>GTA		centrosome-associated protein 350							84.0	79.0	81.0					1																	179972355		2203	4300	6503	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:179972355G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1065G>A	1.37:g.179972355G>A						CEP350_uc009wxl.2_Silent_p.V354V|CEP350_uc001gnu.2_Silent_p.V189V	p.V355V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			7	1448	+			355					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.1065G>A	CCDS1336.1																																																																																				0.373	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
LARP4B	23185	broad.mit.edu	37	10	882389	882389	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:882389C>T	ENST00000316157.3	-	7	744	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	235	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TACTATGCAGCGATTTTGATT	0.353																																						uc001ifs.1																			0				ovary(2)|central_nervous_system(1)	3						c.(703-705)CGC>CAC		La ribonucleoprotein domain family, member 4B							174.0	169.0	171.0					10																	882389		2203	4300	6503	SO:0001583	missense	23185						nucleotide binding|RNA binding	g.chr10:882389C>T	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.704G>A	10.37:g.882389C>T	ENSP00000326128:p.Arg235His						p.R235H	NM_015155	NP_055970	Q92615	LAR4B_HUMAN			7	745	-			235			HTH La-type RNA-binding.		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	ENST00000316157.3	37	c.704G>A	CCDS31131.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600105	0.87055	.	.	ENSG00000107929	ENST00000316157	T	0.35973	1.28	5.85	4.95	0.65309	RNA-binding protein Lupus La (1);Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72915	-0.4147	10	0.72032	D	0.01	-0.3617	15.1659	0.72825	0.0:0.9323:0.0:0.0677	.	235	Q92615	LAR4B_HUMAN	H	235	ENSP00000326128:R235H	ENSP00000326128:R235H	R	-	2	0	LARP4B	872389	1.000000	0.71417	0.627000	0.29227	0.806000	0.45545	7.665000	0.83852	1.472000	0.48140	0.655000	0.94253	CGC		0.353	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046395.2	NM_015155	
CDH23	64072	broad.mit.edu	37	10	73462359	73462359	+	Silent	SNP	T	T	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:73462359T>C	ENST00000224721.6	+	23	2661	c.2656T>C	c.(2656-2658)Ttg>Ctg	p.L886L	CDH23_ENST00000299366.7_Silent_p.L926L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	881	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGTGAACCTCTTGGATCTCAA	0.577																																						uc001jrx.3																			0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(2641-2643)TTG>CTG		cadherin-like 23 isoform 1 precursor							153.0	162.0	159.0					10																	73462359		2004	4166	6170	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73462359T>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2656T>C	10.37:g.73462359T>C						CDH23_uc001jry.2_Silent_p.L497L|CDH23_uc001jrz.2_Silent_p.L497L	p.L881L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			23	3018	+			881			Cadherin 8.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.2641T>C																																																																																					0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2	R233*(JHUEM1_ENDOMETRIUM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(HEC59_ENDOMETRIUM)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	p.R233*(61)|p.R233fs*10(4)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)|p.G165_K342del(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM971277	PTEN	M	rs121909219	c.(697-699)CGA>TGA		phosphatase and tensin homolog							155.0	133.0	141.0					10																	89717672		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717672C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R233*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	1728	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	233			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.697C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		0.423	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CALHM2	51063	broad.mit.edu	37	10	105209447	105209447	+	Silent	SNP	G	G	A	rs200157737		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:105209447G>A	ENST00000260743.5	-	3	775	c.252C>T	c.(250-252)gcC>gcT	p.A84A	CALHM2_ENST00000369788.3_Silent_p.A84A|CALHM2_ENST00000393235.1_Silent_p.A84A|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000494180.1_5'UTR	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	84					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCTGGCACTCGGCCACGAGGT	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17897	0.0		0.0	False		,,,				2504	0.0					uc001kwz.2																			0				skin(1)	1						c.(250-252)GCC>GCT		calcium homeostasis modulator 2							59.0	65.0	63.0					10																	105209447		2203	4300	6503	SO:0001819	synonymous_variant	51063					integral to membrane		g.chr10:105209447G>A	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.252C>T	10.37:g.105209447G>A						CALHM2_uc001kxa.2_Silent_p.A84A|CALHM2_uc001kxc.2_Silent_p.A84A|CALHM2_uc001kxb.2_Silent_p.A84A|CALHM2_uc001kxd.1_Silent_p.A84A	p.A84A	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN			2	638	-			84					D3DR94|O95893|Q6ZUV9	Silent	SNP	ENST00000260743.5	37	c.252C>T	CCDS7549.1																																																																																				0.647	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916	
JAKMIP3	282973	broad.mit.edu	37	10	133954043	133954043	+	Missense_Mutation	SNP	C	C	T	rs372190425		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:133954043C>T	ENST00000298622.4	+	9	1571	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	478						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACAGACAGGACGGACCAGACC	0.607																																						uc001lkx.3																			0				breast(1)	1						c.(1432-1434)ACG>ATG		Janus kinase and microtubule interacting protein		C	MET/THR	1,3949		0,1,1974	51.0	58.0	56.0		1433	4.2	1.0	10		56	0,8296		0,0,4148	no	missense	JAKMIP3	NM_001105521.2	81	0,1,6122	TT,TC,CC		0.0,0.0253,0.0082	probably-damaging	478/845	133954043	1,12245	1975	4148	6123	SO:0001583	missense	282973							g.chr10:133954043C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1433C>T	10.37:g.133954043C>T	ENSP00000298622:p.Thr478Met						p.T478M	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	9	1433	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.1433C>T	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840342	0.51057	2.53E-4	0.0	ENSG00000188385	ENST00000298622	T	0.26518	1.73	4.22	4.22	0.49857	.	0.144258	0.44902	D	0.000409	T	0.37433	0.1003	L	0.43923	1.385	0.46416	D	0.999032	D	0.69078	0.997	P	0.56474	0.799	T	0.17623	-1.0363	10	0.49607	T	0.09	-12.5595	16.7501	0.85483	0.0:1.0:0.0:0.0	.	478	Q5VZ66	JKIP3_HUMAN	M	478	ENSP00000298622:T478M	ENSP00000298622:T478M	T	+	2	0	JAKMIP3	133804033	1.000000	0.71417	0.999000	0.59377	0.415000	0.31203	7.027000	0.76463	2.196000	0.70406	0.655000	0.94253	ACG		0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	
EIF3M	10480	broad.mit.edu	37	11	32615446	32615446	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:32615446G>A	ENST00000531120.1	+	6	631	c.568G>A	c.(568-570)Gga>Aga	p.G190R	EIF3M_ENST00000524896.1_Missense_Mutation_p.G58R	NM_006360.4	NP_006351.2			eukaryotic translation initiation factor 3, subunit M											breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					GGAATTGCTCGGAAGTTACAC	0.388																																						uc001mtu.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(568-570)GGA>AGA		eukaryotic translation initiation factor 3,							128.0	113.0	118.0					11																	32615446		2202	4299	6501	SO:0001583	missense	10480					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:32615446G>A	AK131064	CCDS7880.1	11p13	2012-12-13	2007-07-27	2007-07-27	ENSG00000149100	ENSG00000149100			24460	protein-coding gene	gene with protein product	"""transport and golgi organization 7 homolog (Drosophila)"""	609641	"""PCI domain containing 1 (herpesvirus entry mediator)"""	PCID1		15919898, 15919899	Standard	NM_006360		Approved	hfl-B5, FLJ29030, GA17, eIF3m, TANGO7	uc001mtu.4	Q7L2H7	OTTHUMG00000166258	ENST00000531120.1:c.568G>A	11.37:g.32615446G>A	ENSP00000436049:p.Gly190Arg					EIF3M_uc010ref.1_Missense_Mutation_p.G58R	p.G190R	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN			6	611	+	Breast(20;0.109)		190						Missense_Mutation	SNP	ENST00000531120.1	37	c.568G>A	CCDS7880.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648878	0.67358	.	.	ENSG00000149100	ENST00000531120;ENST00000524896;ENST00000323213;ENST00000526267	T;T;T;T	0.53640	0.61;1.04;0.61;1.01	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	L	0.38175	1.15	0.80722	D	1	P;P	0.41041	0.597;0.736	B;B	0.29176	0.069;0.099	T	0.17258	-1.0375	10	0.14252	T	0.57	-30.7644	20.6439	0.99570	0.0:0.0:1.0:0.0	.	58;190	B4E2Q4;Q7L2H7	.;EIF3M_HUMAN	R	190;58;127;31	ENSP00000436049:G190R;ENSP00000436787:G58R;ENSP00000319910:G127R;ENSP00000432139:G31R	ENSP00000319910:G127R	G	+	1	0	EIF3M	32572022	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.440000	0.97547	2.890000	0.99128	0.650000	0.86243	GGA		0.388	EIF3M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388762.2	NM_006360	
MS4A14	84689	broad.mit.edu	37	11	60183725	60183725	+	Silent	SNP	T	T	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:60183725T>C	ENST00000300187.6	+	5	1561	c.1284T>C	c.(1282-1284)ccT>ccC	p.P428P	MS4A14_ENST00000531783.1_Silent_p.P461P|MS4A14_ENST00000395005.2_Silent_p.P411P|MS4A14_ENST00000531787.1_Silent_p.P316P|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	428	Gln-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TGCAGTTCCCTGAAATACAAC	0.423																																						uc001npj.2																			0				breast(1)	1						c.(1282-1284)CCT>CCC		membrane-spanning 4-domains, subfamily A, member							89.0	86.0	87.0					11																	60183725		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60183725T>C	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1284T>C	11.37:g.60183725T>C						MS4A14_uc001npi.2_Silent_p.P316P|MS4A14_uc001npn.2_Silent_p.P166P|MS4A14_uc001npk.2_Silent_p.P411P|MS4A14_uc001npl.2_Silent_p.P166P|MS4A14_uc001npm.2_Silent_p.P166P	p.P428P	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	1849	+			428			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.1284T>C	CCDS31569.1																																																																																				0.423	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
HEPHL1	341208	broad.mit.edu	37	11	93796724	93796724	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:93796724G>T	ENST00000315765.9	+	3	474	c.466G>T	c.(466-468)Gtt>Ttt	p.V156F		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	156	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGATGACATGGTTCCTCCTGG	0.433																																						uc001pep.2																			0				ovary(3)	3						c.(466-468)GTT>TTT		hephaestin-like 1 precursor							42.0	43.0	43.0					11																	93796724		1913	4127	6040	SO:0001583	missense	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93796724G>T	BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.466G>T	11.37:g.93796724G>T	ENSP00000313699:p.Val156Phe						p.V156F	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			3	623	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	156			Plastocyanin-like 1.|Extracellular (Potential).		Q3C1W7	Missense_Mutation	SNP	ENST00000315765.9	37	c.466G>T	CCDS44710.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038503	0.93630	.	.	ENSG00000181333	ENST00000315765	D	0.99319	-5.74	5.42	5.42	0.78866	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99557	0.9841	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98266	1.0501	10	0.87932	D	0	.	19.2305	0.93836	0.0:0.0:1.0:0.0	.	156	Q6MZM0	HPHL1_HUMAN	F	156	ENSP00000313699:V156F	ENSP00000313699:V156F	V	+	1	0	HEPHL1	93436372	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.515000	0.98015	2.549000	0.85964	0.655000	0.94253	GTT		0.433	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
PIWIL4	143689	broad.mit.edu	37	11	94335056	94335056	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:94335056C>T	ENST00000299001.6	+	12	1687	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	492					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTTATGTAGCGACAGAACTG	0.423																																						uc001pfa.2																			0				skin(1)	1						c.(1474-1476)AGC>AGT		piwi-like 4							154.0	149.0	151.0					11																	94335056		2201	4298	6499	SO:0001819	synonymous_variant	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94335056C>T	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1476C>T	11.37:g.94335056C>T						PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	p.S492S	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			12	1687	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	492					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.1476C>T	CCDS31656.1																																																																																				0.423	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431	
ANO2	57101	broad.mit.edu	37	12	5908716	5908716	+	Missense_Mutation	SNP	G	G	A	rs372991029		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:5908716G>A	ENST00000356134.5	-	11	1074	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	ANO2_ENST00000327087.8_Missense_Mutation_p.R334C|ANO2_ENST00000546188.1_Missense_Mutation_p.R335C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	339					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACTCCATAGCGCGCCCATTCT	0.423																																						uc001qnm.2																			0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(1000-1002)CGC>TGC		anoctamin 2		G	CYS/ARG	1,3711		0,1,1855	78.0	71.0	73.0		1000	5.9	1.0	12		73	0,8220		0,0,4110	no	missense	ANO2	NM_020373.2	180	0,1,5965	AA,AG,GG		0.0,0.0269,0.0084	possibly-damaging	334/999	5908716	1,11931	1856	4110	5966	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5908716G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1003C>T	12.37:g.5908716G>A	ENSP00000348453:p.Arg335Cys						p.R334C	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			10	1072	-			339			Cytoplasmic (Potential).		C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.1000C>T		.	.	.	.	.	.	.	.	.	.	G	11.97	1.796665	0.31777	2.69E-4	0.0	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.71461	-0.57;-0.57;-0.57	5.92	5.92	0.95590	.	0.048093	0.85682	D	0.000000	T	0.73369	0.3578	M	0.84948	2.725	0.58432	D	0.999999	P	0.36438	0.553	B	0.35353	0.201	T	0.76790	-0.2829	10	0.62326	D	0.03	.	12.8416	0.57806	0.0:0.0:0.745:0.255	.	334	Q9NQ90-3	.	C	334;335;335;339	ENSP00000314048:R334C;ENSP00000348453:R335C;ENSP00000440981:R335C	ENSP00000314048:R334C	R	-	1	0	ANO2	5778977	1.000000	0.71417	1.000000	0.80357	0.291000	0.27294	3.647000	0.54403	2.810000	0.96702	0.585000	0.79938	CGC		0.423	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
VWF	7450	broad.mit.edu	37	12	6128359	6128359	+	Missense_Mutation	SNP	C	C	T	rs61750078		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:6128359C>T	ENST00000261405.5	-	28	4479	c.4225G>A	c.(4225-4227)Gtc>Atc	p.V1409I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1409	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCACAATGACCTTCTTCTTC	0.607																																						uc001qnn.1																			0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(4225-4227)GTC>ATC		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						72.0	74.0	73.0					12																	6128359		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128359C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4225G>A	12.37:g.6128359C>T	ENSP00000261405:p.Val1409Ile					VWF_uc010set.1_Intron	p.V1409I	NM_000552	NP_000543	P04275	VWF_HUMAN			28	4475	-			1409			VWFA 1; binding site for platelet glycoprotein Ib.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.4225G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	7.874	0.728781	0.15507	.	.	ENSG00000110799	ENST00000261405	D	0.97688	-4.49	4.92	4.0	0.46444	von Willebrand factor, type A (3);	0.000000	0.40222	N	0.001152	D	0.96827	0.8964	L	0.58428	1.81	0.80722	D	1	B	0.24768	0.111	P	0.50440	0.641	D	0.89237	0.3581	10	0.02654	T	1	.	3.8261	0.08855	0.2114:0.6116:0.0:0.177	.	1409	P04275	VWF_HUMAN	I	1409	ENSP00000261405:V1409I	ENSP00000261405:V1409I	V	-	1	0	VWF	5998620	1.000000	0.71417	0.685000	0.30070	0.842000	0.47809	2.900000	0.48687	1.244000	0.43870	0.555000	0.69702	GTC		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552	
ELK3	2004	broad.mit.edu	37	12	96641080	96641080	+	Silent	SNP	C	C	T	rs369779294		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:96641080C>T	ENST00000228741.3	+	3	896	c.570C>T	c.(568-570)acC>acT	p.T190T	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	190					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|wound healing (GO:0042060)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCAATAAAACCGACAAGCACG	0.622																																						uc001teo.1																			0				ovary(1)	1						c.(568-570)ACC>ACT		ELK3 protein		C		0,4406		0,0,2203	78.0	78.0	78.0		570	2.6	0.8	12		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ELK3	NM_005230.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		190/408	96641080	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2004				negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:96641080C>T	BC017371	CCDS9060.1	12q23	2006-12-30				ENSG00000111145			3325	protein-coding gene	gene with protein product		600247				7851904	Standard	NM_005230		Approved	ERP, NET, SAP2	uc001teo.1	P41970		ENST00000228741.3:c.570C>T	12.37:g.96641080C>T							p.T190T	NM_005230	NP_005221	P41970	ELK3_HUMAN			3	849	+	all_cancers(2;0.00173)		190					B2R6S6|Q6FG57|Q6GU29|Q9UD17	Silent	SNP	ENST00000228741.3	37	c.570C>T	CCDS9060.1																																																																																				0.622	ELK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408694.1	NM_005230	
UGGT2	55757	broad.mit.edu	37	13	96648323	96648323	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr13:96648323T>A	ENST00000376747.3	-	7	894	c.824A>T	c.(823-825)aAa>aTa	p.K275I	UGGT2_ENST00000376714.3_Missense_Mutation_p.K275I|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000397618.3_Missense_Mutation_p.K275I|UGGT2_ENST00000376712.4_Missense_Mutation_p.K275I	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	275					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTACTTTAGTTTCCCAAAGAG	0.313																																						uc001vmt.2																			0				ovary(2)|central_nervous_system(1)	3						c.(823-825)AAA>ATA		UDP-glucose ceramide glucosyltransferase-like 2							116.0	125.0	122.0					13																	96648323		2203	4298	6501	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96648323T>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.824A>T	13.37:g.96648323T>A	ENSP00000365938:p.Lys275Ile					UGGT2_uc010afo.2_RNA|UGGT2_uc001vmv.2_Missense_Mutation_p.K275I|UGGT2_uc010afp.2_Missense_Mutation_p.K275I	p.K275I	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			7	994	-			275					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.824A>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304452	0.40795	.	.	ENSG00000102595	ENST00000376747;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.51325	0.71;0.71	5.97	2.09	0.27110	.	0.151685	0.64402	D	0.000018	T	0.54822	0.1882	M	0.65498	2.005	0.42723	D	0.993686	P;P;B	0.49090	0.919;0.919;0.034	P;P;B	0.57057	0.812;0.812;0.025	T	0.53034	-0.8495	10	0.87932	D	0	-14.8454	4.8642	0.13600	0.0:0.2216:0.2792:0.4993	.	275;275;275	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	I	275	ENSP00000365938:K275I;ENSP00000380743:K275I	ENSP00000365902:K275I	K	-	2	0	UGGT2	95446324	0.905000	0.30787	0.997000	0.53966	0.997000	0.91878	0.792000	0.26929	0.129000	0.18514	0.477000	0.44152	AAA		0.313	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
PCNXL4	64430	broad.mit.edu	37	14	60582118	60582118	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr14:60582118C>G	ENST00000406854.1	+	4	1850	c.1296C>G	c.(1294-1296)ttC>ttG	p.F432L	PCNXL4_ENST00000404681.2_Missense_Mutation_p.F432L|PCNXL4_ENST00000317623.4_Missense_Mutation_p.F198L|PCNXL4_ENST00000406949.1_Missense_Mutation_p.F198L			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	432						integral component of membrane (GO:0016021)											TGACTGTATTCTTTGAGAAGC	0.343																																						uc001xer.3																			0				ovary(2)	2						c.(592-594)TTC>TTG		hepatitis C virus F protein-binding protein 2							113.0	112.0	113.0					14																	60582118		1837	4092	5929	SO:0001583	missense	64430					integral to membrane		g.chr14:60582118C>G	AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.1296C>G	14.37:g.60582118C>G	ENSP00000384801:p.Phe432Leu					C14orf135_uc001xeq.2_Missense_Mutation_p.F198L|C14orf135_uc010apm.2_5'Flank	p.F198L	NM_022495	NP_071940	Q63HM2	CN135_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.127)	3	1116	+		Myeloproliferative disorder(585;0.163)	432					A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	ENST00000406854.1	37	c.594C>G		.	.	.	.	.	.	.	.	.	.	C	11.46	1.645438	0.29246	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.26660	1.81;1.84;1.72;1.84	5.81	4.0	0.46444	.	.	.	.	.	T	0.19046	0.0457	L	0.44542	1.39	0.80722	D	1	B;B	0.21606	0.058;0.058	B;B	0.17098	0.017;0.017	T	0.05131	-1.0904	9	0.15499	T	0.54	.	8.658	0.34075	0.0:0.7148:0.0:0.2852	.	432;198	Q63HM2;B5MC47	CN135_HUMAN;.	L	198;432;198;432	ENSP00000317396:F198L;ENSP00000384801:F432L;ENSP00000385201:F198L;ENSP00000385713:F432L	ENSP00000317396:F198L	F	+	3	2	C14orf135	59651871	1.000000	0.71417	0.988000	0.46212	0.491000	0.33493	1.961000	0.40432	0.808000	0.34231	0.462000	0.41574	TTC		0.343	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000317847.1	NM_022495	
MAP2K1	5604	broad.mit.edu	37	15	66679706	66679706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:66679706delG	ENST00000307102.5	+	1	552	c.21delG	c.(19-21)acgfs	p.T7fs	TIPIN_ENST00000561773.1_5'Flank	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	7					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|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)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	AGAAGCCGACGCCCATCCAGC	0.697																																						uc010bhq.2																			0					0						c.(19-21)ACGfs		mitogen-activated protein kinase kinase 1							29.0	27.0	28.0					15																	66679706		2147	4234	6381	SO:0001589	frameshift_variant	5604	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66679706delG	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.21delG	15.37:g.66679706delG	ENSP00000302486:p.Thr7fs						p.T7fs	NM_002755	NP_002746	Q02750	MP2K1_HUMAN			1	496	+			7						Frame_Shift_Del	DEL	ENST00000307102.5	37	c.21delG	CCDS10216.1																																																																																				0.697	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4		
SLC28A1	9154	broad.mit.edu	37	15	85478399	85478399	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:85478399G>A	ENST00000286749.3	+	13	1447	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	SLC28A1_ENST00000537624.1_Missense_Mutation_p.V453M|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Missense_Mutation_p.V453M|SLC28A1_ENST00000394573.1_Missense_Mutation_p.V453M			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	453					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GGGAGACATGGTGGACATCCA	0.592																																						uc002blg.2																			0				skin(2)|ovary(1)	3						c.(1357-1359)GTG>ATG		solute carrier family 28, member 1 isoform 1							108.0	92.0	97.0					15																	85478399		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85478399G>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1357G>A	15.37:g.85478399G>A	ENSP00000286749:p.Val453Met					SLC28A1_uc010bnb.2_Missense_Mutation_p.V453M|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.V453M|SLC28A1_uc010upg.1_Missense_Mutation_p.V453M	p.V453M	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		14	1559	+			453					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1357G>A	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095353	0.56075	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	5.19	4.28	0.50868	Na dependent nucleoside transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.80422	2.495	0.80722	D	1	D;D;D	0.65815	0.995;0.99;0.995	D;D;D	0.70016	0.967;0.947;0.967	T	0.02450	-1.1157	10	0.59425	D	0.04	-17.5717	11.7996	0.52120	0.0848:0.0:0.9152:0.0	.	453;453;453	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	M	453	ENSP00000440546:V453M;ENSP00000444700:V453M;ENSP00000286749:V453M;ENSP00000378074:V453M	ENSP00000286749:V453M	V	+	1	0	SLC28A1	83279403	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	5.134000	0.64770	1.423000	0.47198	0.455000	0.32223	GTG		0.592	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		
MFGE8	4240	broad.mit.edu	37	15	89453040	89453040	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:89453040C>T	ENST00000566497.1	-	2	249	c.188G>A	c.(187-189)gGc>gAc	p.G63D	MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000539437.1_Missense_Mutation_p.G55D|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Missense_Mutation_p.G63D|MFGE8_ENST00000268151.7_Missense_Mutation_p.G63D			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	63	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of apoptotic cell clearance (GO:2000427)|single fertilization (GO:0007338)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|vesicle (GO:0031982)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACAGTGGTTGCCCGCGTAGCC	0.572																																						uc002bng.3																			0				ovary(1)	1						c.(187-189)GGC>GAC		milk fat globule-EGF factor 8 protein isoform a							163.0	126.0	139.0					15																	89453040		2200	4299	6499	SO:0001583	missense	4240				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization			g.chr15:89453040C>T	U58516	CCDS10347.1, CCDS45345.1	15q25	2009-03-25			ENSG00000140545	ENSG00000140545			7036	protein-coding gene	gene with protein product	"""sperm surface protein hP47"""	602281	"""sperm associated antigen 10"""	SPAG10		9027496, 19204935	Standard	NM_005928		Approved	SED1, EDIL1, BA46, OAcGD3S, HsT19888, MFG-E8, hP47	uc002bng.4	Q08431	OTTHUMG00000148682	ENST00000566497.1:c.188G>A	15.37:g.89453040C>T	ENSP00000456281:p.Gly63Asp					MFGE8_uc002bnf.3_5'UTR|MFGE8_uc002bnh.3_Missense_Mutation_p.G63D|MFGE8_uc010bnn.2_Missense_Mutation_p.G55D|MFGE8_uc010upq.1_Intron|MFGE8_uc010upr.1_Missense_Mutation_p.G63D|MFGE8_uc010bno.2_Intron	p.G63D	NM_005928	NP_005919	Q08431	MFGM_HUMAN			2	301	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		63			EGF-like.		B2R6M7|Q53FU9|Q7Z3D2|Q9BTL9	Missense_Mutation	SNP	ENST00000566497.1	37	c.188G>A	CCDS10347.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838214	0.91117	.	.	ENSG00000140545	ENST00000268150;ENST00000268151;ENST00000539437	D;D;D	0.99105	-5.43;-5.43;-5.43	5.39	5.39	0.77823	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99245	0.9737	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.99663	1.0994	10	0.87932	D	0	-48.5807	18.0846	0.89453	0.0:1.0:0.0:0.0	.	55;55;63;63	B3KTQ2;F5H7N9;Q08431-3;Q08431	.;.;.;MFGM_HUMAN	D	63;63;55	ENSP00000268150:G63D;ENSP00000268151:G63D;ENSP00000442386:G55D	ENSP00000268150:G63D	G	-	2	0	MFGE8	87254044	1.000000	0.71417	0.216000	0.23742	0.007000	0.05969	7.380000	0.79704	2.700000	0.92200	0.561000	0.74099	GGC		0.572	MFGE8-015	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000432804.1	NM_005928	
APOBR	55911	broad.mit.edu	37	16	28507386	28507386	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:28507386G>A	ENST00000431282.1	+	2	1034	c.1024G>A	c.(1024-1026)Ggc>Agc	p.G342S	APOBR_ENST00000564831.1_Missense_Mutation_p.G342S|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.G342S			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	342	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GATAGCCTCAGGCGGGGAGGC	0.721																																						uc002dqb.1																			0					0						c.(1024-1026)GGC>AGC		apolipoprotein B48 receptor							11.0	13.0	12.0					16																	28507386		1846	3974	5820	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28507386G>A	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1024G>A	16.37:g.28507386G>A	ENSP00000416094:p.Gly342Ser					uc010vct.1_Intron|APOB48R_uc010byg.1_5'UTR	p.G342S	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			2	1034	+			342			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.1024G>A		.	.	.	.	.	.	.	.	.	.	G	6.782	0.513222	0.12944	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.61980	0.06;0.06	1.89	0.839	0.18907	.	.	.	.	.	T	0.40595	0.1123	N	0.14661	0.345	0.09310	N	1	P	0.40476	0.718	B	0.41619	0.361	T	0.25222	-1.0138	9	0.09084	T	0.74	.	8.4595	0.32919	0.0:0.2447:0.7552:0.0	.	333	Q9NS13	.	S	342	ENSP00000327669:G342S;ENSP00000416094:G342S	ENSP00000327669:G342S	G	+	1	0	APOBR	28414887	0.000000	0.05858	0.002000	0.10522	0.006000	0.05464	-0.375000	0.07475	0.108000	0.17862	-0.416000	0.06073	GGC		0.721	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804	
ALDOA	226	broad.mit.edu	37	16	30080984	30080984	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:30080984C>T	ENST00000566897.1	+	10	1941	c.789C>T	c.(787-789)ccC>ccT	p.P263P	ALDOA_ENST00000412304.2_Silent_p.P263P|ALDOA_ENST00000564595.2_Silent_p.P317P|ALDOA_ENST00000563060.2_Silent_p.P263P|ALDOA_ENST00000338110.5_Silent_p.P263P|ALDOA_ENST00000564546.1_Silent_p.P263P|ALDOA_ENST00000569798.1_Silent_p.P263P|ALDOA_ENST00000395248.1_Silent_p.P317P|ALDOA_ENST00000569545.1_Silent_p.P263P|ALDOA_ENST00000395240.3_Silent_p.P267P			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	263					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CAGTGCCCCCCGCTGTCACTG	0.562																																						uc002dvw.2																			0				lung(1)	1						c.(787-789)CCC>CCT		fructose-bisphosphate aldolase A							53.0	49.0	51.0					16																	30080984		2197	4300	6497	SO:0001819	synonymous_variant	226				actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	g.chr16:30080984C>T	X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.789C>T	16.37:g.30080984C>T						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.2_Silent_p.P263P|ALDOA_uc002dvy.2_Silent_p.P263P|ALDOA_uc002dvz.2_Silent_p.P263P|ALDOA_uc002dwa.3_Silent_p.P263P|ALDOA_uc002dwb.1_Silent_p.P263P|ALDOA_uc002dwc.2_Silent_p.P263P|ALDOA_uc010veg.1_Silent_p.P317P|ALDOA_uc002dwd.2_Silent_p.P267P	p.P263P	NM_184043	NP_908932	P04075	ALDOA_HUMAN			10	1917	+			263					B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Silent	SNP	ENST00000566897.1	37	c.789C>T	CCDS10668.1																																																																																				0.562	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034	
GSE1	23199	broad.mit.edu	37	16	85701868	85701868	+	Frame_Shift_Del	DEL	C	C	-			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:85701868delC	ENST00000253458.7	+	14	3429	c.3253delC	c.(3253-3255)cccfs	p.P1086fs	GSE1_ENST00000405402.2_Frame_Shift_Del_p.P982fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.P1013fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1086																	GCAGCAGGAGCCCCCCACTGC	0.607																																						uc002fix.2																			0				large_intestine(3)|ovary(1)|skin(1)	5						c.(3253-3255)CCCfs		genetic suppressor element 1 isoform 1							68.0	75.0	72.0					16																	85701868		2198	4300	6498	SO:0001589	frameshift_variant	23199						protein binding	g.chr16:85701868delC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3253delC	16.37:g.85701868delC	ENSP00000253458:p.Pro1086fs					KIAA0182_uc002fiw.2_Frame_Shift_Del_p.P981fs|KIAA0182_uc002fiy.2_Frame_Shift_Del_p.P1012fs|KIAA0182_uc002fiz.2_Frame_Shift_Del_p.P227fs|KIAA0182_uc010cho.2_Frame_Shift_Del_p.P265fs	p.P1085fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN			14	3327	+			1085					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	ENST00000253458.7	37	c.3253delC	CCDS10952.1																																																																																				0.607	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615	
ABR	29	broad.mit.edu	37	17	914060	914060	+	Silent	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:914060G>A	ENST00000302538.5	-	20	2291	c.2145C>T	c.(2143-2145)aaC>aaT	p.N715N	ABR_ENST00000543210.2_Silent_p.N166N|ABR_ENST00000544583.2_Silent_p.N669N|ABR_ENST00000536794.2_Silent_p.N497N|ABR_ENST00000291107.2_Silent_p.N678N|ABR_ENST00000572441.1_Intron|ABR_ENST00000574437.1_Silent_p.N669N	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	715	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGGCGATGGCGTTGATGTCCA	0.637																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	uc002fsd.2																			0				upper_aerodigestive_tract(1)	1						c.(2143-2145)AAC>AAT		active breakpoint cluster region-related							146.0	122.0	130.0					17																	914060		2203	4300	6503	SO:0001819	synonymous_variant	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:914060G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2145C>T	17.37:g.914060G>A						ABR_uc002fse.2_Silent_p.N669N|ABR_uc010vqf.1_Silent_p.N166N|ABR_uc010vqg.1_Silent_p.N497N|ABR_uc002fsg.2_Silent_p.N678N|ABR_uc002fsh.1_Silent_p.N323N|ABR_uc002fsf.2_Silent_p.N252N	p.N715N	NM_021962	NP_068781	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	20	2255	-			715			Rho-GAP.		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Silent	SNP	ENST00000302538.5	37	c.2145C>T	CCDS10999.1																																																																																				0.637	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4		
MNT	4335	broad.mit.edu	37	17	2290511	2290511	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:2290511G>A	ENST00000174618.4	-	6	1838	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V	RP1-59D14.1_ENST00000571775.1_RNA|MNT_ENST00000575374.1_5'Flank	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	478					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CAGTTGCACCGCAGGGCTGGG	0.667																																						uc002fur.2																			0				skin(1)	1						c.(1432-1434)GCG>GTG		MAX binding protein							25.0	27.0	26.0					17																	2290511		2200	4294	6494	SO:0001583	missense	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2290511G>A	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1433C>T	17.37:g.2290511G>A	ENSP00000174618:p.Ala478Val						p.A478V	NM_020310	NP_064706	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	6	1685	-			478					A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	ENST00000174618.4	37	c.1433C>T	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.722983	0.68959	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.83914	-1.78	3.52	3.52	0.40303	.	0.199506	0.25027	N	0.033703	T	0.64011	0.2560	N	0.08118	0	0.30288	N	0.790616	B	0.29552	0.248	B	0.22386	0.039	T	0.63625	-0.6595	10	0.35671	T	0.21	-8.1492	10.8474	0.46751	0.0:0.0:1.0:0.0	.	478	Q99583	MNT_HUMAN	V	478	ENSP00000174618:A478V	ENSP00000174618:A478V	A	-	2	0	MNT	2237261	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.313000	0.59160	2.274000	0.75844	0.591000	0.81541	GCG		0.667	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310	
KCNJ12	3768	broad.mit.edu	37	17	21319073	21319073	+	Missense_Mutation	SNP	C	C	T	rs536297311		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:21319073C>T	ENST00000583088.1	+	3	1314	c.419C>T	c.(418-420)aCg>aTg	p.T140M	KCNJ12_ENST00000331718.5_Missense_Mutation_p.T140M	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	140					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TCCATCGAGACGCAGACCACC	0.667										Prostate(3;0.18)			.|||	1	0.000199681	0.0	0.0	5008	,	,		35355	0.001		0.0	False		,,,				2504	0.0					uc002gyv.1																			0				ovary(3)|skin(1)	4						c.(418-420)ACG>ATG		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						45.0	43.0	44.0					17																	21319073		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21319073C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.419C>T	17.37:g.21319073C>T	ENSP00000463778:p.Thr140Met	Prostate(3;0.18)					p.T140M	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1124	+			140					O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.419C>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363062	0.82353	.	.	ENSG00000184185	ENST00000331718	D	0.98345	-4.88	5.23	5.23	0.72850	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.99405	0.9790	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98378	1.0557	10	0.87932	D	0	.	18.7906	0.91973	0.0:1.0:0.0:0.0	.	140	Q14500	IRK12_HUMAN	M	140	ENSP00000328150:T140M	ENSP00000328150:T140M	T	+	2	0	KCNJ12	21259666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.448000	0.82819	0.591000	0.81541	ACG		0.667	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
COL1A1	1277	broad.mit.edu	37	17	48268238	48268238	+	Silent	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:48268238G>T	ENST00000225964.5	-	33	2401	c.2283C>A	c.(2281-2283)ggC>ggA	p.G761G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	761	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G761G(3)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GACCACGGACGCCATCTTTGC	0.587			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	3	Substitution - coding silent(3)		large_intestine(3)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(2281-2283)GGC>GGA		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						119.0	93.0	102.0					17																	48268238		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48268238G>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2283C>A	17.37:g.48268238G>T							p.G761G	NM_000088	NP_000079	P02452	CO1A1_HUMAN			33	2409	-			761			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.2283C>A	CCDS11561.1																																																																																				0.587	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
GPR142	350383	broad.mit.edu	37	17	72367987	72367987	+	Missense_Mutation	SNP	G	G	A	rs371610556		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:72367987G>A	ENST00000335666.4	+	4	685	c.637G>A	c.(637-639)Gcg>Acg	p.A213T		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	213						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CATCGTGTTCGCGGGCTTCCT	0.652																																						uc010wqy.1																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(637-639)GCG>ACG		G protein-coupled receptor 142		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	81.0	65.0	70.0		637	0.5	1.0	17		70	0,8600		0,0,4300	no	missense	GPR142	NM_181790.1	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	213/463	72367987	1,13005	2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72367987G>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.637G>A	17.37:g.72367987G>A	ENSP00000335158:p.Ala213Thr					GPR142_uc010wqx.1_Missense_Mutation_p.A125T	p.A213T	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	637	+			213			Helical; Name=2; (Potential).		A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.637G>A	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448864	0.43531	2.27E-4	0.0	ENSG00000257008	ENST00000335666	T	0.72051	-0.62	4.99	0.525	0.17072	GPCR, rhodopsin-like superfamily (1);	0.258141	0.38058	N	0.001835	T	0.50394	0.1613	N	0.08118	0	0.25527	N	0.98731	P;D	0.57571	0.922;0.98	B;P	0.46362	0.386;0.514	T	0.52366	-0.8585	10	0.54805	T	0.06	-4.0801	9.1429	0.36914	0.3338:0.0:0.6662:0.0	.	213;1175	Q7Z601;Q8NGB0	GP142_HUMAN;.	T	213	ENSP00000335158:A213T	ENSP00000335158:A213T	A	+	1	0	GPR142	69879582	0.924000	0.31332	0.987000	0.45799	0.963000	0.63663	1.388000	0.34442	0.043000	0.15746	0.650000	0.86243	GCG		0.652	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790	
SLC25A52	147407	broad.mit.edu	37	18	29339972	29339972	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr18:29339972C>G	ENST00000579441.2	-	1	652	c.653G>C	c.(652-654)gGa>gCa	p.G218A	SLC25A52_ENST00000269205.5_Missense_Mutation_p.G228A			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	218					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											CAATAGACCTCCACCGATAAA	0.458																																						uc002kxa.2																			0				skin(1)	1						c.(652-654)GGA>GCA		mitochondrial carrier triple repeat 2							82.0	80.0	81.0					18																	29339972		2203	4300	6503	SO:0001583	missense	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29339972C>G		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.653G>C	18.37:g.29339972C>G	ENSP00000462754:p.Gly218Ala						p.G218A	NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0539)		1	872	-			218			Helical; Name=5; (Potential).|Solcar 3.			Missense_Mutation	SNP	ENST00000579441.2	37	c.653G>C		.	.	.	.	.	.	.	.	.	.	C	19.39	3.818809	0.71028	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	D	0.91237	-2.81	1.22	1.22	0.21188	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93795	0.8016	M	0.80982	2.52	0.80722	D	1	D	0.64830	0.994	D	0.77004	0.989	D	0.92680	0.6157	10	0.72032	D	0.01	.	8.3686	0.32402	0.0:1.0:0.0:0.0	.	218	Q3SY17	MCAR2_HUMAN	A	228;218	ENSP00000372612:G228A	ENSP00000372612:G228A	G	-	2	0	MCART2	27593970	1.000000	0.71417	0.224000	0.23877	0.763000	0.43281	4.925000	0.63425	0.992000	0.38840	0.505000	0.49811	GGA		0.458	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000	
SLC14A2	8170	broad.mit.edu	37	18	43205722	43205722	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr18:43205722C>T	ENST00000255226.6	+	3	1041	c.225C>T	c.(223-225)gaC>gaT	p.D75D	SLC14A2_ENST00000586448.1_Silent_p.D75D	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	75					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						AAAGGAAAGACGACGGGGTGG	0.517																																						uc010dnj.2																			0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(223-225)GAC>GAT		solute carrier family 14 (urea transporter),							68.0	63.0	65.0					18																	43205722		2203	4300	6503	SO:0001819	synonymous_variant	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43205722C>T	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.225C>T	18.37:g.43205722C>T						SLC14A2_uc002lbb.2_Silent_p.D75D|SLC14A2_uc002lbe.2_Silent_p.D75D	p.D75D	NM_007163	NP_009094	Q15849	UT2_HUMAN			4	546	+			75					A8K8Q7|Q2TBD6|Q96PH5	Silent	SNP	ENST00000255226.6	37	c.225C>T	CCDS11924.1																																																																																				0.517	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
DUS3L	56931	broad.mit.edu	37	19	5785666	5785666	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:5785666C>T	ENST00000309061.7	-	11	1795	c.1699G>A	c.(1699-1701)Ggc>Agc	p.G567S	PRR22_ENST00000419421.2_5'Flank|CTB-54O9.9_ENST00000586012.1_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.G325S	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	567							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTCTCCACGCCCTGCGTGTCC	0.706																																						uc002mdc.2																			0					0						c.(1699-1701)GGC>AGC		dihydrouridine synthase 3-like isoform 1							28.0	30.0	30.0					19																	5785666		2199	4294	6493	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5785666C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1699G>A	19.37:g.5785666C>T	ENSP00000311977:p.Gly567Ser					PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.2_Missense_Mutation_p.G325S|DUS3L_uc010duk.2_Missense_Mutation_p.G232S	p.G567S	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN			11	1796	-			567					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1699G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	33	5.242647	0.95272	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.29655	1.56;1.56	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.69260	0.3091	H	0.97390	3.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81682	-0.0822	10	0.87932	D	0	-28.4886	14.6137	0.68534	0.0:1.0:0.0:0.0	.	325;567	Q96G46-3;Q96G46	.;DUS3L_HUMAN	S	567;325	ENSP00000311977:G567S;ENSP00000315558:G325S	ENSP00000311977:G567S	G	-	1	0	DUS3L	5736666	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.411000	0.80078	2.052000	0.61016	0.555000	0.69702	GGC		0.706	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175	
CD209	30835	broad.mit.edu	37	19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	rs139712001		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:7809880C>T	ENST00000315599.7	-	5	869	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_ENST00000301357.8_Missense_Mutation_p.A147T|CD209_ENST00000601256.1_Missense_Mutation_p.A259T|CD209_ENST00000204801.8_Missense_Mutation_p.A239T|CD209_ENST00000593821.1_Missense_Mutation_p.A147T|CD209_ENST00000394173.4_Missense_Mutation_p.A122T|CD209_ENST00000593660.1_Missense_Mutation_p.A213T|CD209_ENST00000602261.1_Missense_Mutation_p.A191T|CD209_ENST00000354397.6_Missense_Mutation_p.A283T|CD209_ENST00000394161.5_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.A259T|CD209_ENST00000315591.8_Missense_Mutation_p.A259T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	283	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.A283T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582													c|||	1	0.000199681	0.0008	0.0	5008	,	,		17657	0.0		0.0	False		,,,				2504	0.0					uc002mht.2																			1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(847-849)GCC>ACC		CD209 molecule isoform 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	4,4402	9.9+/-24.2	0,4,2199	85.0	81.0	82.0		439,715,571,775,847,364,847	-0.1	0.0	19	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense,missense,missense,missense,missense	CD209	NM_001144893.1,NM_001144894.1,NM_001144895.1,NM_001144896.1,NM_001144897.1,NM_001144899.1,NM_021155.3	58,58,58,58,58,58,58	0,8,6495	TT,TC,CC		0.0465,0.0908,0.0615	benign,benign,benign,benign,benign,benign,benign	147/269,239/361,191/313,259/381,283/399,122/244,283/405	7809880	8,12998	2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7809880C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.847G>A	19.37:g.7809880C>T	ENSP00000315477:p.Ala283Thr					CD209_uc010xju.1_Missense_Mutation_p.A122T|CD209_uc010dvp.2_Missense_Mutation_p.A259T|CD209_uc002mhr.2_Missense_Mutation_p.A259T|CD209_uc002mhs.2_Missense_Mutation_p.A213T|CD209_uc002mhu.2_Missense_Mutation_p.A191T|CD209_uc010dvq.2_Missense_Mutation_p.A283T|CD209_uc002mhq.2_Missense_Mutation_p.A283T|CD209_uc002mhv.2_Missense_Mutation_p.A259T|CD209_uc002mhx.2_Missense_Mutation_p.A239T|CD209_uc002mhw.2_Missense_Mutation_p.A147T|CD209_uc010dvr.2_Intron	p.A283T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			5	914	-			283			Extracellular (Probable).|C-type lectin.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.847G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007084	0.35415	9.08E-4	4.65E-4	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000315591;ENST00000204801;ENST00000394173;ENST00000301357;ENST00000540789	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	3.29	-0.0555	0.13809	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.27169	0.0666	L	0.45581	1.43	0.09310	N	1	D;D;P;D;P;P;D;D;D;P;D	0.89917	1.0;1.0;0.955;0.998;0.909;0.918;0.98;1.0;0.999;0.956;1.0	D;D;P;D;B;P;B;D;D;B;D	0.97110	0.955;0.967;0.799;0.964;0.234;0.522;0.421;1.0;0.951;0.345;0.996	T	0.13176	-1.0519	9	0.87932	D	0	.	2.7211	0.05201	0.2253:0.5221:0.0:0.2526	.	283;283;259;239;147;259;191;283;213;259;283	B2R907;Q9NNX6-2;Q9NNX6-12;Q9NNX6-7;Q9NNX6-8;Q9NNX6-6;G5E9C4;Q9NNX6;Q9NNX6-11;Q9NNX6-10;Q9NNX6-5	.;.;.;.;.;.;.;CD209_HUMAN;.;.;.	T	283;283;259;239;191;147;267	ENSP00000315477:A283T;ENSP00000346373:A283T;ENSP00000315407:A259T;ENSP00000204801:A239T;ENSP00000301357:A147T	ENSP00000204801:A239T	A	-	1	0	CD209	7715880	0.006000	0.16342	0.007000	0.13788	0.027000	0.11550	-0.132000	0.10467	0.085000	0.17107	0.455000	0.32223	GCC		0.582	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155	
ARMC6	93436	broad.mit.edu	37	19	19166113	19166113	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:19166113G>T	ENST00000535612.1	+	7	1495	c.1063G>T	c.(1063-1065)Gca>Tca	p.A355S	ARMC6_ENST00000392336.3_Missense_Mutation_p.A355S|ARMC6_ENST00000392335.2_Missense_Mutation_p.A330S|ARMC6_ENST00000546344.1_Missense_Mutation_p.A262S|ARMC6_ENST00000269932.6_Missense_Mutation_p.A330S	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	355					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GCGAGCCATCGCAGGCAACGA	0.627																																						uc002nld.2																			0					0						c.(1063-1065)GCA>TCA		armadillo repeat containing 6							113.0	93.0	100.0					19																	19166113		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19166113G>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1063G>T	19.37:g.19166113G>T	ENSP00000444156:p.Ala355Ser					ARMC6_uc002nlc.2_Missense_Mutation_p.A330S|ARMC6_uc010xql.1_Missense_Mutation_p.A262S|ARMC6_uc002nle.2_Missense_Mutation_p.A330S|ARMC6_uc010xqm.1_Missense_Mutation_p.A355S	p.A355S	NM_033415	NP_219483	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		7	1411	+			355			ARM 3.		B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.1063G>T	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.97|18.97	3.736252|3.736252	0.69189|0.69189	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336|ENST00000535478;ENST00000535795	T;T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63;0.63|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.056073|.	0.64402|.	D|.	0.000001|.	T|T	0.74589|0.74589	0.3736|0.3736	M|M	0.73319|0.73319	2.225|2.225	0.80722|0.80722	D|D	1|1	D|.	0.59767|.	0.986|.	P|.	0.49853|.	0.624|.	T|T	0.75288|0.75288	-0.3370|-0.3370	10|5	0.26408|.	T|.	0.33|.	-19.4446|-19.4446	17.0086|17.0086	0.86400|0.86400	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	355|.	Q6NXE6|.	ARMC6_HUMAN|.	S|L	330;355;330;262;266;355|44;18	ENSP00000376147:A330S;ENSP00000444156:A355S;ENSP00000269932:A330S;ENSP00000444341:A262S;ENSP00000376148:A355S|.	ENSP00000269932:A330S|.	A|R	+|+	1|2	0|0	ARMC6|ARMC6	19027113|19027113	1.000000|1.000000	0.71417|0.71417	0.900000|0.900000	0.35374|0.35374	0.681000|0.681000	0.39784|0.39784	7.390000|7.390000	0.79816|0.79816	2.271000|2.271000	0.75665|0.75665	0.563000|0.563000	0.77884|0.77884	GCA|CGC		0.627	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415	
PSG8	440533	broad.mit.edu	37	19	43259170	43259170	+	Missense_Mutation	SNP	G	G	A	rs200167716		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:43259170G>A	ENST00000306511.4	-	4	1055	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG8_ENST00000404209.4_Missense_Mutation_p.R320C|PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.R198C|PSG8_ENST00000401467.2_Missense_Mutation_p.R227C	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	320	Ig-like C2-type 2.					extracellular region (GO:0005576)		p.R320C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGTAACTGCGGATGCCACCA	0.483																																						uc002ouo.2																			2	Substitution - Missense(2)		large_intestine(2)		0						c.(958-960)CGC>TGC		pregnancy specific beta-1-glycoprotein 8 isoform		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	185.0	185.0	185.0		958,592,958	-2.0	0.0	19		185	1,8597		0,1,4298	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	180,180,180	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	320/420,198/298,320/427	43259170	1,13003	2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43259170G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.958C>T	19.37:g.43259170G>A	ENSP00000305005:p.Arg320Cys					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_Intron|PSG8_uc002oui.2_Missense_Mutation_p.R159C|PSG8_uc002ouh.2_Missense_Mutation_p.R320C|PSG8_uc010ein.2_Missense_Mutation_p.R198C|PSG8_uc002ouj.3_Missense_Mutation_p.R102C|PSG8_uc002ouk.3_Missense_Mutation_p.R159C|PSG8_uc002oul.3_Missense_Mutation_p.R320C|PSG8_uc002oum.3_Missense_Mutation_p.R227C|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Missense_Mutation_p.R227C	p.R320C	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			4	1056	-		Prostate(69;0.00899)	320			Ig-like C2-type 2.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.958C>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	4.888	0.164951	0.09287	0.0	1.16E-4	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	1.38	-1.99	0.07457	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25494	0.0620	M	0.78285	2.405	0.09310	N	1	D;P;B;B;B;B	0.69078	0.997;0.594;0.02;0.005;0.005;0.006	P;B;B;B;B;B	0.61397	0.888;0.284;0.009;0.07;0.005;0.009	T	0.13737	-1.0498	9	0.51188	T	0.08	.	2.0334	0.03534	0.2288:0.0:0.475:0.2962	.	198;227;320;227;320;320	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	C	320;198;227;132;227;320	ENSP00000385869:R320C;ENSP00000385081:R198C;ENSP00000386090:R227C;ENSP00000305005:R320C	ENSP00000305005:R320C	R	-	1	0	PSG8	47951010	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.436000	0.02421	-0.117000	0.11872	-1.261000	0.01458	CGC		0.483	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1		
FAM71E1	112703	broad.mit.edu	37	19	50978584	50978584	+	Silent	SNP	G	G	A	rs552107394	byFrequency	TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:50978584G>A	ENST00000600100.1	-	3	901	c.537C>T	c.(535-537)ttC>ttT	p.F179F	EMC10_ENST00000376918.3_5'Flank|FAM71E1_ENST00000595790.1_Silent_p.F163F|EMC10_ENST00000334976.6_5'Flank|EMC10_ENST00000598585.1_5'Flank			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	179										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCAGTTACCCGAAGAGTTGCA	0.672													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15579	0.0		0.002	False		,,,				2504	0.0					uc002psh.2																			0				breast(1)	1						c.(535-537)TTC>TTT		hypothetical protein LOC112703							39.0	39.0	39.0					19																	50978584		2201	4299	6500	SO:0001819	synonymous_variant	112703							g.chr19:50978584G>A		CCDS33081.1	19q13.33	2007-11-20				ENSG00000142530			25107	protein-coding gene	gene with protein product							Standard	XM_005258472		Approved		uc002psg.3	Q6IPT2		ENST00000600100.1:c.537C>T	19.37:g.50978584G>A						FAM71E1_uc002psg.2_Silent_p.F163F|FAM71E1_uc002psi.2_RNA|C19orf63_uc002psj.2_5'Flank|C19orf63_uc002psk.2_5'Flank|C19orf63_uc002psl.2_5'Flank	p.F179F	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)	3	895	-		all_neural(266;0.131)	179					Q96EJ5|Q9BSM9	Silent	SNP	ENST00000600100.1	37	c.537C>T																																																																																					0.672	FAM71E1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464754.2		
SRBD1	55133	broad.mit.edu	37	2	45773870	45773870	+	Splice_Site	SNP	C	C	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr2:45773870C>A	ENST00000263736.4	-	14	1937		c.e14+1		SRBD1_ENST00000535761.1_Splice_Site	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1						nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AATAGCCTTACCAGTAAACAA	0.378																																						uc002rus.2																			0				central_nervous_system(1)	1						c.e14+1		S1 RNA binding domain 1							123.0	115.0	117.0					2																	45773870		2203	4300	6503	SO:0001630	splice_region_variant	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45773870C>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1874+1G>T	2.37:g.45773870C>A						SRBD1_uc010yoc.1_Splice_Site_p.C144_splice	p.C625_splice	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		14	1950	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)						Q53T56|Q96TA4|Q9NW11	Splice_Site	SNP	ENST00000263736.4	37	c.1874_splice	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413811	0.83449	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRBD1	45627374	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.122000	0.77169	2.941000	0.99782	0.655000	0.94253	.		0.378	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079	Intron
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307																																						uc002tec.2																			0				ovary(1)	1						c.(2098-2100)GAAfs		GRIP and coiled-coil domain-containing 2																																				SO:0001589	frameshift_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087883_109087884insA	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2106dupA	2.37:g.109087891_109087891dupA	ENSP00000307939:p.Glu700fs					GCC2_uc002ted.2_Frame_Shift_Ins_p.E599fs	p.E700fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	2252_2253	+			700			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Ins	INS	ENST00000309863.6	37	c.2098_2099insA	CCDS33268.1																																																																																				0.307	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
CRYGD	1421	broad.mit.edu	37	2	208986472	208986472	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr2:208986472G>C	ENST00000264376.4	-	3	477	c.450C>G	c.(448-450)gaC>gaG	p.D150E		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	150	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGCGCCTATAGTCCCCTGGCA	0.542																																						uc002vcn.3																			0					0						c.(448-450)GAC>GAG		crystallin, gamma D							75.0	71.0	72.0					2																	208986472		2203	4300	6503	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208986472G>C		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.450C>G	2.37:g.208986472G>C	ENSP00000264376:p.Asp150Glu						p.D150E	NM_006891	NP_008822	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	566	-			150			Beta/gamma crystallin 'Greek key' 4.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.450C>G	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	G	0.282	-0.985471	0.02180	.	.	ENSG00000118231	ENST00000264376	T	0.72615	-0.67	4.25	-8.5	0.00927	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.234086	0.41001	N	0.000962	T	0.25195	0.0612	N	0.01535	-0.81	0.27250	N	0.958901	B	0.02656	0.0	B	0.01281	0.0	T	0.49244	-0.8960	10	0.02654	T	1	.	5.048	0.14494	0.0822:0.4647:0.1162:0.3369	.	150	P07320	CRGD_HUMAN	E	150	ENSP00000264376:D150E	ENSP00000264376:D150E	D	-	3	2	CRYGD	208694717	0.000000	0.05858	0.043000	0.18650	0.474000	0.32979	-2.798000	0.00762	-1.749000	0.01330	0.555000	0.69702	GAC		0.542	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891	
JAG1	182	broad.mit.edu	37	20	10653470	10653470	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr20:10653470C>T	ENST00000254958.5	-	2	781	c.266G>A	c.(265-267)gGg>gAg	p.G89E	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	89					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAGGGCCCCCCGGCCGTGAC	0.667									Alagille Syndrome																													uc002wnw.2																			0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(265-267)GGG>GAG		jagged 1 precursor							46.0	47.0	47.0					20																	10653470		2203	4300	6503	SO:0001583	missense	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10653470C>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.266G>A	20.37:g.10653470C>T	ENSP00000254958:p.Gly89Glu						p.G89E	NM_000214	NP_000205	P78504	JAG1_HUMAN			2	782	-			89			Extracellular (Potential).		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.266G>A	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.293797	0.60086	.	.	ENSG00000101384	ENST00000254958	D	0.97016	-4.21	5.28	4.34	0.51931	Notch ligand, N-terminal (1);	0.097855	0.64402	N	0.000001	D	0.93167	0.7824	N	0.20530	0.585	0.80722	D	1	P	0.37688	0.605	B	0.42462	0.388	D	0.93081	0.6491	10	0.54805	T	0.06	.	14.1993	0.65690	0.0:0.9275:0.0:0.0725	.	89	P78504	JAG1_HUMAN	E	89	ENSP00000254958:G89E	ENSP00000254958:G89E	G	-	2	0	JAG1	10601470	0.960000	0.32886	1.000000	0.80357	0.994000	0.84299	1.251000	0.32862	1.369000	0.46134	0.561000	0.74099	GGG		0.667	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214	
MACROD2	140733	broad.mit.edu	37	20	15210608	15210608	+	Silent	SNP	A	A	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr20:15210608A>T	ENST00000310348.4	+	6	441	c.441A>T	c.(439-441)ccA>ccT	p.P147P	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000217246.4_Silent_p.P147P			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	147	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				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)				CTGTAGGGCCAATAGCCAGGG	0.353																																						uc002wou.2																			0					0						c.(439-441)CCA>CCT		MACRO domain containing 2 isoform 1							82.0	76.0	78.0					20																	15210608		1807	4067	5874	SO:0001819	synonymous_variant	140733							g.chr20:15210608A>T	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.441A>T	20.37:g.15210608A>T						MACROD2_uc002wot.2_Silent_p.P147P|MACROD2_uc002woz.2_5'UTR	p.P147P	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			6	705	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	147			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Silent	SNP	ENST00000310348.4	37	c.441A>T	CCDS13120.2																																																																																				0.353	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	
DRICH1	51233	broad.mit.edu	37	22	23974205	23974205	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:23974205C>T	ENST00000317749.5	-	1	303	c.6G>A	c.(4-6)ggG>ggA	p.G2G	KB-1572G7.3_ENST00000390329.3_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		2										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCAGTATATTCCCCATGGGGC	0.547																																						uc002zxf.2																			0				skin(1)	1						c.(4-6)GGG>GGA		hypothetical protein LOC51233							61.0	60.0	61.0					22																	23974205		1928	4125	6053	SO:0001819	synonymous_variant	51233							g.chr22:23974205C>T																												ENST00000317749.5:c.6G>A	22.37:g.23974205C>T							p.G2G	NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN			1	283	-			2					Q6ICJ8|Q6P4I3|Q9NU31	Silent	SNP	ENST00000317749.5	37	c.6G>A	CCDS42985.1																																																																																				0.547	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2		
CHEK2	11200	broad.mit.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496|rs146546850	byFrequency	TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:29091840_29091841TG>CA	ENST00000405598.1	-	12	1307_1308	c.1116_1117CA>TG	c.(1114-1119)tcCAag>tcTGag	p.K373E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCAA	0.416			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			17	Substitution - Missense(9)|Substitution - coding silent(8)	p.K373E(2)|p.S372S(1)	kidney(8)|prostate(4)|endometrium(2)|central_nervous_system(2)|stomach(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1114-1119)TCCAAG>TCTGAG	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a																																				SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840_29091841TG>CA	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116_1117delinsCA	22.37:g.29091840_29091841delinsCA	ENSP00000386087:p.Lys373Glu					CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E	p.K373E	NM_007194	NP_009125	O96017	CHK2_HUMAN			11	1188_1189	-			373			Protein kinase.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	DNP	ENST00000405598.1	37	c.1116_1117CA>TG	CCDS13843.1																																																																																				0.416	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735	
SF3A1	10291	broad.mit.edu	37	22	30738319	30738319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:30738319C>T	ENST00000215793.8	-	6	901	c.747G>A	c.(745-747)tgG>tgA	p.W249*	SF3A1_ENST00000439242.1_Nonsense_Mutation_p.W184*	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	249					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGAATTTGGCCCATTCCACTC	0.542																																						uc003ahl.2																			0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(745-747)TGG>TGA		splicing factor 3a, subunit 1, 120kDa isoform 1							53.0	43.0	47.0					22																	30738319		2203	4300	6503	SO:0001587	stop_gained	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30738319C>T	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.747G>A	22.37:g.30738319C>T	ENSP00000215793:p.Trp249*						p.W249*	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			6	879	-			249					E9PAW1	Nonsense_Mutation	SNP	ENST00000215793.8	37	c.747G>A	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	C	37	6.340229	0.97489	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7928	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	184;249;146	.	ENSP00000215793:W249X	W	-	3	0	SF3A1	29068319	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.773000	0.85462	2.884000	0.98904	0.655000	0.94253	TGG		0.542	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877	
FAM118A	55007	broad.mit.edu	37	22	45723798	45723798	+	Missense_Mutation	SNP	C	C	T	rs140683394		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:45723798C>T	ENST00000216214.3	+	5	1210	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	FAM118A_ENST00000405673.1_Missense_Mutation_p.R126W|FAM118A_ENST00000405548.3_5'Flank|FAM118A_ENST00000441876.2_Missense_Mutation_p.R126W	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	126						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCAGCACATCCGGAGTCCTGT	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		20077	0.0		0.0	False		,,,				2504	0.001					uc003bfz.3																			0					0						c.(376-378)CGG>TGG		hypothetical protein LOC55007		C	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	72.0	61.0	65.0		376,376	5.1	1.0	22	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM118A	NM_001104595.1,NM_017911.2	101,101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging	126/358,126/358	45723798	2,13004	2203	4300	6503	SO:0001583	missense	55007					integral to membrane		g.chr22:45723798C>T	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.376C>T	22.37:g.45723798C>T	ENSP00000216214:p.Arg126Trp					FAM118A_uc003bga.3_Missense_Mutation_p.R126W|uc011aqp.1_5'Flank|uc011aqq.1_5'Flank|FAM118A_uc011aqr.1_5'Flank	p.R126W	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	992	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	126					B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	c.376C>T	CCDS14065.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913303	0.52439	2.27E-4	1.16E-4	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405673;ENST00000427777	T;T;T;T	0.46451	0.9;0.9;0.87;0.88	5.12	5.12	0.69794	.	0.134028	0.51477	D	0.000089	T	0.26919	0.0659	N	0.14661	0.345	0.80722	D	1	D	0.54397	0.966	B	0.39660	0.306	T	0.16335	-1.0406	10	0.72032	D	0.01	-2.4101	13.8442	0.63457	0.0:0.8465:0.1535:0.0	.	126	Q9NWS6	F118A_HUMAN	W	126	ENSP00000216214:R126W;ENSP00000395892:R126W;ENSP00000385231:R126W;ENSP00000395194:R126W	ENSP00000216214:R126W	R	+	1	2	FAM118A	44102462	1.000000	0.71417	0.998000	0.56505	0.492000	0.33523	4.554000	0.60760	2.390000	0.81377	0.484000	0.47621	CGG		0.592	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911	
CCR4	1233	broad.mit.edu	37	3	32995888	32995888	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:32995888T>A	ENST00000330953.5	+	2	1142	c.974T>A	c.(973-975)cTt>cAt	p.L325H		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	325					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGCAGGGGCCTTTTTGTGCTC	0.478																																						uc003cfg.1																			0				lung(1)	1						c.(973-975)CTT>CAT		chemokine (C-C motif) receptor 4							56.0	59.0	58.0					3																	32995888		2202	4300	6502	SO:0001583	missense	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995888T>A	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.974T>A	3.37:g.32995888T>A	ENSP00000332659:p.Leu325His						p.L325H	NM_005508	NP_005499	P51679	CCR4_HUMAN			2	1142	+			325			Cytoplasmic (Potential).		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	ENST00000330953.5	37	c.974T>A	CCDS2656.1	.	.	.	.	.	.	.	.	.	.	T	3.768	-0.048217	0.07407	.	.	ENSG00000183813	ENST00000330953	T	0.38240	1.15	5.43	3.63	0.41609	.	1.187760	0.06401	N	0.718766	T	0.28300	0.0699	L	0.29908	0.895	0.21861	N	0.999509	B	0.24368	0.102	B	0.27262	0.078	T	0.32613	-0.9900	10	0.15066	T	0.55	.	8.739	0.34545	0.0:0.764:0.0:0.236	.	325	P51679	CCR4_HUMAN	H	325	ENSP00000332659:L325H	ENSP00000332659:L325H	L	+	2	0	CCR4	32970892	0.006000	0.16342	0.611000	0.29010	0.559000	0.35586	1.408000	0.34668	0.760000	0.33108	-0.468000	0.05107	CTT		0.478	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2		
DCP1A	55802	broad.mit.edu	37	3	53376299	53376299	+	Splice_Site	SNP	C	C	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:53376299C>A	ENST00000480258.1	-	3	269		c.e3-1		DCP1A_ENST00000606822.1_Splice_Site|DCP1A_ENST00000294241.6_Splice_Site|DCP1A_ENST00000607628.1_Splice_Site			Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GGAAGCTGACCTTAGATTTAA	0.294																																						uc003dgs.3																			0					0						c.e3-1		DCP1 decapping enzyme homolog A							41.0	40.0	40.0					3																	53376299		1816	4074	5890	SO:0001630	splice_region_variant	55802				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding	g.chr3:53376299C>A	AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000480258.1:c.5730-1G>T	3.37:g.53376299C>A						DCP1A_uc003dgt.3_Splice_Site	p.R59_splice	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)	3	270	-								B4DHN9|U3KQM8	Splice_Site	SNP	ENST00000480258.1	37	c.177_splice																																																																																					0.294	DCP1A-001	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000350374.2	NM_018403	Intron
CD96	10225	broad.mit.edu	37	3	111356983	111356983	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:111356983G>A	ENST00000283285.5	+	13	1624	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	CD96_ENST00000352690.4_Missense_Mutation_p.G482E	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	498	Pro/Ser/Thr-rich.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACTGCCAATGGATCTACGAAA	0.383									Opitz Trigonocephaly syndrome																													uc003dxw.2																			0				skin(2)|central_nervous_system(1)	3						c.(1492-1494)GGA>GAA		CD96 antigen isoform 1 precursor							182.0	167.0	172.0					3																	111356983		2203	4300	6503	SO:0001583	missense	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111356983G>A	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1493G>A	3.37:g.111356983G>A	ENSP00000283285:p.Gly498Glu					CD96_uc003dxx.2_Missense_Mutation_p.G482E|CD96_uc010hpy.1_Missense_Mutation_p.G481E	p.G498E	NM_198196	NP_937839	P40200	TACT_HUMAN			13	1663	+			498			Extracellular (Potential).|Pro/Ser/Thr-rich.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.1493G>A	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720790	0.30503	.	.	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.64991	-0.13;-0.13	4.6	0.237	0.15475	.	1.184840	0.06003	N	0.648043	T	0.47210	0.1433	N	0.24115	0.695	0.54753	D	0.999981	B;B;B	0.20261	0.025;0.043;0.025	B;B;B	0.21546	0.016;0.035;0.016	T	0.40924	-0.9537	10	0.66056	D	0.02	-0.1159	5.5208	0.16931	0.0976:0.0:0.3927:0.5098	.	481;482;498	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	E	482;498	ENSP00000342040:G482E;ENSP00000283285:G498E	ENSP00000283285:G498E	G	+	2	0	CD96	112839673	0.055000	0.20627	0.984000	0.44739	0.694000	0.40290	0.130000	0.15850	0.218000	0.20820	0.563000	0.77884	GGA		0.383	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2		
HPS3	84343	broad.mit.edu	37	3	148857895	148857895	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:148857895A>C	ENST00000296051.2	+	2	462	c.322A>C	c.(322-324)Atg>Ctg	p.M108L	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	108					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGTATCCGAATGATTGGGCA	0.423									Hermansky-Pudlak syndrome																													uc003ewu.1																			0				ovary(5)|large_intestine(1)	6						c.(322-324)ATG>CTG		Hermansky-Pudlak syndrome 3 protein							138.0	139.0	138.0					3																	148857895		2203	4300	6503	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148857895A>C	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.322A>C	3.37:g.148857895A>C	ENSP00000296051:p.Met108Leu					HPS3_uc003ewt.1_Missense_Mutation_p.M108L|HPS3_uc011bnq.1_Intron	p.M108L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		2	462	+			108					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.322A>C	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	1.717	-0.497663	0.04291	.	.	ENSG00000163755	ENST00000296051	T	0.61859	0.07	5.67	4.5	0.54988	.	0.097007	0.64402	N	0.000001	T	0.43986	0.1272	L	0.33485	1.01	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.25187	-1.0139	10	0.12766	T	0.61	-30.6572	13.1857	0.59680	0.8666:0.1334:0.0:0.0	.	108	Q969F9	HPS3_HUMAN	L	108	ENSP00000296051:M108L	ENSP00000296051:M108L	M	+	1	0	HPS3	150340585	0.987000	0.35691	0.553000	0.28255	0.218000	0.24690	2.873000	0.48475	1.066000	0.40716	0.477000	0.44152	ATG		0.423	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
CPN2	1370	broad.mit.edu	37	3	194062087	194062087	+	Missense_Mutation	SNP	G	G	A	rs142681810		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:194062087G>A	ENST00000323830.3	-	2	1434	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	CPN2_ENST00000429275.1_Missense_Mutation_p.R449W	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	449					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGTGGTCCCGGGTGACGGGA	0.647																																						uc003fts.2																			0				ovary(5)	5						c.(1345-1347)CGG>TGG		carboxypeptidase N, polypeptide 2		G	TRP/ARG	0,4406		0,0,2203	62.0	65.0	64.0		1345	-0.2	0.0	3	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CPN2	NM_001080513.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	449/546	194062087	1,13005	2203	4300	6503	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062087G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1345C>T	3.37:g.194062087G>A	ENSP00000319464:p.Arg449Trp						p.R449W	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1435	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		449					B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.1345C>T	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	7.127	0.579108	0.13686	0.0	1.16E-4	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.55052	0.54;0.54	5.33	-0.211	0.13172	.	0.811760	0.10054	N	0.721792	T	0.27866	0.0686	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.20472	-1.0274	10	0.59425	D	0.04	.	1.1586	0.01801	0.1771:0.1363:0.3498:0.3368	.	449	P22792	CPN2_HUMAN	W	449	ENSP00000319464:R449W;ENSP00000402232:R449W	ENSP00000319464:R449W	R	-	1	2	CPN2	195543782	0.031000	0.19500	0.001000	0.08648	0.269000	0.26545	0.035000	0.13797	0.025000	0.15241	0.655000	0.94253	CGG		0.647	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513	
TLR1	7096	broad.mit.edu	37	4	38798601	38798601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:38798601G>A	ENST00000502213.2	-	3	2081	c.1852C>T	c.(1852-1854)Cag>Tag	p.Q618*	TLR1_ENST00000308979.2_Nonsense_Mutation_p.Q618*|TLR1_ENST00000510552.1_5'Flank			Q15399	TLR1_HUMAN	toll-like receptor 1	618					cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CGCCGGGTCTGGGTCCACTGG	0.522																																					GBM(5;216 373 40795 46382)	uc003gtl.2																			0				lung(2)|skin(2)|prostate(1)	5						c.(1852-1854)CAG>TAG		toll-like receptor 1 precursor							81.0	91.0	87.0					4																	38798601		2203	4300	6503	SO:0001587	stop_gained	7096				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity	g.chr4:38798601G>A	U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.1852C>T	4.37:g.38798601G>A	ENSP00000421259:p.Gln618*						p.Q618*	NM_003263	NP_003254	Q15399	TLR1_HUMAN			4	2126	-			618			Cytoplasmic (Potential).		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Nonsense_Mutation	SNP	ENST00000502213.2	37	c.1852C>T	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	G	39	7.530645	0.98342	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	.	.	.	5.5	5.5	0.81552	.	0.220151	0.31949	N	0.006809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.5959	0.68407	0.0:0.0:0.8541:0.1459	.	.	.	.	X	618	.	ENSP00000354932:Q618X	Q	-	1	0	TLR1	38474996	0.999000	0.42202	1.000000	0.80357	0.895000	0.52256	5.248000	0.65421	2.758000	0.94735	0.563000	0.77884	CAG		0.522	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3		
CCDC158	339965	broad.mit.edu	37	4	77288529	77288529	+	Missense_Mutation	SNP	C	C	T	rs370067451		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:77288529C>T	ENST00000388914.3	-	11	1900	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	583								p.R583Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCCAGCAGTTCGTCCATGCTG	0.458																																						uc003hkb.3																			1	Substitution - Missense(1)		skin(1)	skin(3)|ovary(2)|pancreas(1)	6						c.(1747-1749)CGA>CAA		coiled-coil domain containing 158		C	GLN/ARG	0,3850		0,0,1925	103.0	98.0	100.0		1748	5.9	0.7	4		100	1,8281		0,1,4140	no	missense	CCDC158	NM_001042784.1	43	0,1,6065	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	583/1114	77288529	1,12131	1925	4141	6066	SO:0001583	missense	339965							g.chr4:77288529C>T	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1748G>A	4.37:g.77288529C>T	ENSP00000373566:p.Arg583Gln						p.R583Q	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			11	1901	-			583			Potential.		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.1748G>A	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495739	0.85069	0.0	1.21E-4	ENSG00000163749	ENST00000388914	T	0.50548	0.74	5.95	5.95	0.96441	.	0.091907	0.45606	D	0.000358	T	0.52370	0.1730	N	0.12182	0.205	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.56025	-0.8047	10	0.46703	T	0.11	.	17.2956	0.87170	0.0:1.0:0.0:0.0	.	583	Q5M9N0	CD158_HUMAN	Q	583	ENSP00000373566:R583Q	ENSP00000373566:R583Q	R	-	2	0	CCDC158	77507553	0.611000	0.26992	0.654000	0.29608	0.889000	0.51656	1.914000	0.39966	2.826000	0.97356	0.563000	0.77884	CGA		0.458	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	
PPA2	27068	broad.mit.edu	37	4	106317427	106317427	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:106317427C>T	ENST00000341695.5	-	9	878	c.848G>A	c.(847-849)tGt>tAt	p.C283Y	PPA2_ENST00000354147.3_Missense_Mutation_p.C117Y|PPA2_ENST00000509426.1_5'Flank|PPA2_ENST00000380004.2_Missense_Mutation_p.C265Y|PPA2_ENST00000432483.2_Missense_Mutation_p.C181Y|PPA2_ENST00000348706.5_Missense_Mutation_p.C254Y|PPA2_ENST00000357415.4_Missense_Mutation_p.C298Y	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	283					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TCCTCCATTACACTTCTTCAT	0.294																																						uc003hxl.2																			0				pancreas(1)	1						c.(847-849)TGT>TAT		inorganic pyrophosphatase 2 isoform 1 precursor							96.0	90.0	92.0					4																	106317427		2203	4296	6499	SO:0001583	missense	27068				diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding	g.chr4:106317427C>T		CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.848G>A	4.37:g.106317427C>T	ENSP00000343885:p.Cys283Tyr					PPA2_uc003hxm.2_Missense_Mutation_p.C265Y|PPA2_uc003hxn.2_Missense_Mutation_p.C254Y|PPA2_uc003hxo.2_Missense_Mutation_p.C181Y|PPA2_uc003hxp.2_Missense_Mutation_p.C117Y|PPA2_uc003hxq.2_Missense_Mutation_p.C190Y|PPA2_uc003hxr.2_Missense_Mutation_p.C190Y	p.C283Y	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)	9	868	-		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)	283					B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	ENST00000341695.5	37	c.848G>A	CCDS3667.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011314	0.35511	.	.	ENSG00000138777	ENST00000341695;ENST00000348706;ENST00000354147;ENST00000432483;ENST00000357415;ENST00000380004	T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02	5.61	2.75	0.32379	.	0.474164	0.22396	N	0.060612	T	0.48409	0.1498	L	0.51422	1.61	0.09310	N	0.999999	D;D;P;P;P	0.57571	0.98;0.98;0.841;0.932;0.754	P;P;P;P;B	0.57204	0.815;0.815;0.628;0.507;0.424	T	0.28073	-1.0055	10	0.54805	T	0.06	-16.3275	9.4818	0.38906	0.2142:0.3099:0.4758:0.0	.	117;181;254;265;283	Q9H2U2-4;F8WDN9;Q9H2U2-3;E2QRM6;Q9H2U2	.;.;.;.;IPYR2_HUMAN	Y	283;254;117;181;298;265	ENSP00000343885:C283Y;ENSP00000313061:C254Y;ENSP00000340352:C117Y;ENSP00000389957:C181Y;ENSP00000349996:C298Y;ENSP00000369340:C265Y	ENSP00000343885:C283Y	C	-	2	0	PPA2	106536876	0.000000	0.05858	0.721000	0.30653	0.986000	0.74619	0.697000	0.25556	1.470000	0.48102	0.655000	0.94253	TGT		0.294	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250704.4	NM_176869	
FNIP1	96459	broad.mit.edu	37	5	131039794	131039794	+	Silent	SNP	T	T	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr5:131039794T>C	ENST00000510461.1	-	10	1175	c.1080A>G	c.(1078-1080)gaA>gaG	p.E360E	FNIP1_ENST00000511848.1_Silent_p.E360E|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.E315E|FNIP1_ENST00000307968.7_Silent_p.E332E	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	360					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCATGTGGCTTTCAAAGAGAG	0.269																																						uc003kvs.1																			0				pancreas(1)|skin(1)	2						c.(1078-1080)GAA>GAG		folliculin interacting protein 1 isoform 1							39.0	42.0	41.0					5																	131039794		2202	4293	6495	SO:0001819	synonymous_variant	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131039794T>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1080A>G	5.37:g.131039794T>C						RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.E332E|FNIP1_uc010jdm.1_Silent_p.E315E|FNIP1_uc003kvu.2_Silent_p.E360E	p.E360E	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	10	1222	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	360					D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.1080A>G	CCDS34227.1																																																																																				0.269	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372	
PCDHGA7	56108	broad.mit.edu	37	5	140763059	140763059	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr5:140763059G>A	ENST00000518325.1	+	1	593	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGGAGCGGGTGCTGGAC	0.622																																						uc003lka.1																			0					0						c.(592-594)CGG>CAG		protocadherin gamma subfamily A, 7 isoform 1							20.0	24.0	23.0					5																	140763059		2108	4240	6348	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763059G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.593G>A	5.37:g.140763059G>A	ENSP00000430024:p.Arg198Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.R198Q	p.R198Q	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	593	+			198			Extracellular (Potential).|Cadherin 2.		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.593G>A	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	2.156	-0.393232	0.04899	.	.	ENSG00000253537	ENST00000518325	T	0.52295	0.67	5.11	2.08	0.27032	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32941	0.0846	L	0.39085	1.19	0.09310	N	1	B;B	0.23377	0.01;0.084	B;B	0.19391	0.025;0.022	T	0.22836	-1.0205	9	0.36615	T	0.2	.	4.2343	0.10618	0.5496:0.0:0.2853:0.165	.	198;198	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	Q	198	ENSP00000430024:R198Q	ENSP00000430024:R198Q	R	+	2	0	PCDHGA7	140743243	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.051000	0.11885	0.149000	0.19098	0.655000	0.94253	CGG		0.622	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920	
HLA-E	3133	broad.mit.edu	37	6	30458930	30458930	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:30458930C>T	ENST00000376630.4	+	4	692	c.627C>T	c.(625-627)caC>caT	p.H209H		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	209	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CAAAGACACACGTGACTCACC	0.582																																						uc003nqg.2																			0				central_nervous_system(4)|ovary(1)	5						c.(625-627)CAC>CAT		major histocompatibility complex, class I, E							125.0	145.0	138.0					6																	30458930		1511	2709	4220	SO:0001819	synonymous_variant	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:30458930C>T	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.627C>T	6.37:g.30458930C>T						HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Silent_p.H250H	p.H209H	NM_005516	NP_005507	P13747	HLAE_HUMAN			4	665	+			209			Ig-like C1-type.|Alpha-3.|Extracellular (Potential).		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	37	c.627C>T	CCDS34379.1																																																																																				0.582	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516	
DST	667	broad.mit.edu	37	6	56357035	56357035	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:56357035C>G	ENST00000361203.3	-	80	19794	c.19787G>C	c.(19786-19788)aGa>aCa	p.R6596T	DST_ENST00000370754.5_Missense_Mutation_p.R6885T|DST_ENST00000421834.2_Missense_Mutation_p.R4619T|DST_ENST00000340834.4_5'Flank|DST_ENST00000370769.4_Missense_Mutation_p.R6707T|DST_ENST00000446842.2_Missense_Mutation_p.R6381T|DST_ENST00000370788.2_Missense_Mutation_p.R4510T|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.R4293T			Q03001	DYST_HUMAN	dystonin	6596					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTTGGCTCTCTTCCTTGC	0.373																																						uc003pdf.2																			0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(14389-14391)AGA>ACA		dystonin isoform 2							117.0	106.0	110.0					6																	56357035		1873	4108	5981	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56357035C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19787G>C	6.37:g.56357035C>G	ENSP00000354508:p.Arg6596Thr					DST_uc003pcz.3_Missense_Mutation_p.R4619T|DST_uc011dxj.1_Missense_Mutation_p.R4648T|DST_uc011dxk.1_Missense_Mutation_p.R4659T|DST_uc003pcy.3_Missense_Mutation_p.R4293T|DST_uc003pda.3_5'UTR	p.R4797T	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		79	14418	-	Lung NSC(77;0.103)		6705			Spectrin 18.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.14390G>C		.	.	.	.	.	.	.	.	.	.	C	19.97	3.925233	0.73213	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.54	5.54	0.83059	.	0.000000	0.53938	D	0.000050	T	0.63965	0.2556	M	0.72118	2.19	0.34046	D	0.655574	D;D;D;D;P	0.89917	0.998;1.0;1.0;1.0;0.945	D;D;D;D;P	0.91635	0.997;0.999;0.998;0.998;0.547	T	0.59894	-0.7368	9	0.40728	T	0.16	.	19.8328	0.96642	0.0:1.0:0.0:0.0	.	4619;6707;6885;6705;4293	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	T	4293;6885;6707;4619;6381;4510;6596	ENSP00000244364:R4293T;ENSP00000359790:R6885T;ENSP00000359805:R6707T;ENSP00000400883:R4619T;ENSP00000393645:R6381T;ENSP00000359824:R4510T;ENSP00000354508:R6596T	ENSP00000244364:R4293T	R	-	2	0	DST	56464994	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.701000	0.84566	2.758000	0.94735	0.591000	0.81541	AGA		0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
COL19A1	1310	broad.mit.edu	37	6	70878104	70878104	+	Silent	SNP	T	T	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:70878104T>A	ENST00000322773.4	+	39	2640	c.2538T>A	c.(2536-2538)ccT>ccA	p.P846P	COL19A1_ENST00000393344.1_Silent_p.P468P	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	846	Collagen-like 9.|Triple-helical region 5 (COL5).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACCCGGTCCTCCTGTAAGTA	0.383																																						uc003pfc.1																			0				ovary(2)|breast(2)	4						c.(2536-2538)CCT>CCA		alpha 1 type XIX collagen precursor							57.0	60.0	59.0					6																	70878104		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70878104T>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2538T>A	6.37:g.70878104T>A							p.P846P	NM_001858	NP_001849	Q14993	COJA1_HUMAN			39	2655	+			846			Triple-helical region 5 (COL5).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.2538T>A	CCDS4970.1																																																																																				0.383	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
CEP57L1	285753	broad.mit.edu	37	6	109481832	109481832	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:109481832C>T	ENST00000517392.1	+	10	1500	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	CEP57L1_ENST00000520883.1_Silent_p.D258D|CEP57L1_ENST00000523787.1_Silent_p.D361D|CEP57L1_ENST00000521522.1_Silent_p.D305D|CEP57L1_ENST00000359793.3_Silent_p.D358D|CEP57L1_ENST00000368968.2_Silent_p.D358D|CEP57L1_ENST00000336977.4_Silent_p.D258D|CEP57L1_ENST00000368970.2_Silent_p.D375D|CEP57L1_ENST00000407272.1_Silent_p.D358D	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	358					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						CAGTCTGTGACGACATAGAAT	0.343																																						uc010kdk.2																			0					0						c.(1072-1074)GAC>GAT		hypothetical protein LOC285753							82.0	79.0	80.0					6																	109481832		2203	4298	6501	SO:0001819	synonymous_variant	285753					microtubule|microtubule organizing center		g.chr6:109481832C>T	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1074C>T	6.37:g.109481832C>T						C6orf182_uc003psx.3_Silent_p.D358D|C6orf182_uc010kdl.2_Silent_p.D358D|C6orf182_uc003psy.3_Silent_p.D358D	p.D358D	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)	12	1651	+		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)	358			Potential.		G5E992	Silent	SNP	ENST00000517392.1	37	c.1074C>T	CCDS5071.1																																																																																				0.343	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830	
TBP	6908	broad.mit.edu	37	6	170878836	170878836	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:170878836G>T	ENST00000392092.2	+	6	1093	c.814G>T	c.(814-816)Ggc>Tgc	p.G272C	TBP_ENST00000230354.6_Missense_Mutation_p.G272C|TBP_ENST00000540980.1_Missense_Mutation_p.G252C	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	272					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		AAGGTTAGAAGGCCTTGTGCT	0.368																																						uc003qxt.2																			0				ovary(1)	1						c.(814-816)GGC>TGC		TATA box binding protein							116.0	110.0	112.0					6																	170878836		2203	4300	6503	SO:0001583	missense	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170878836G>T	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.814G>T	6.37:g.170878836G>T	ENSP00000375942:p.Gly272Cys					TBP_uc003qxu.2_Missense_Mutation_p.G272C|TBP_uc011ehf.1_Missense_Mutation_p.G252C	p.G272C	NM_003194	NP_003185	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	6	1046	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	272			2.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Missense_Mutation	SNP	ENST00000392092.2	37	c.814G>T	CCDS5315.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840363	0.71488	.	.	ENSG00000112592	ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	.	.	.	6.17	5.3	0.74995	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77831	0.4189	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.80167	-0.1495	9	0.87932	D	0	-8.0894	15.9972	0.80260	0.065:0.0:0.935:0.0	.	272	P20226	TBP_HUMAN	C	272;252;272;249	.	ENSP00000230354:G272C	G	+	1	0	TBP	170720761	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.248000	0.95456	2.941000	0.99782	0.655000	0.94253	GGC		0.368	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194	
C7orf65	401335	broad.mit.edu	37	7	47698751	47698751	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:47698751G>T	ENST00000408988.2	+	3	416	c.381G>T	c.(379-381)aaG>aaT	p.K127N		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	127										endometrium(1)|lung(2)	3						ACCCCTGGAAGGATGCTCAGG	0.552																																						uc010kyp.1																			0					0						c.(379-381)AAG>AAT		hypothetical protein LOC401335							115.0	105.0	108.0					7																	47698751		1568	3582	5150	SO:0001583	missense	401335							g.chr7:47698751G>T		CCDS43580.1	7p12.3	2009-02-11			ENSG00000221845	ENSG00000221845			34432	protein-coding gene	gene with protein product							Standard	NM_001123065		Approved	FLJ44108	uc010kyp.1	Q6ZTY9	OTTHUMG00000155550	ENST00000408988.2:c.381G>T	7.37:g.47698751G>T	ENSP00000386198:p.Lys127Asn						p.K127N	NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN			3	416	+			127					A4D2F8	Missense_Mutation	SNP	ENST00000408988.2	37	c.381G>T	CCDS43580.1	.	.	.	.	.	.	.	.	.	.	G	3.734	-0.054952	0.07362	.	.	ENSG00000221845	ENST00000408988	.	.	.	0.559	-0.633	0.11519	.	.	.	.	.	T	0.16557	0.0398	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.11329	0.006	T	0.19516	-1.0303	7	0.87932	D	0	.	.	.	.	.	127	Q6ZTY9	CG065_HUMAN	N	127	.	ENSP00000386198:K127N	K	+	3	2	C7orf65	47665276	0.001000	0.12720	0.010000	0.14722	0.010000	0.07245	-0.004000	0.12878	-0.315000	0.08703	-0.310000	0.09108	AAG		0.552	C7orf65-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340616.1	NM_001123065	
PPP1R3A	5506	broad.mit.edu	37	7	113558904	113558904	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:113558904C>T	ENST00000284601.3	-	1	216	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	50					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TATATGTCTTCAGAAGAATCA	0.388																																						uc010ljy.1																			0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(148-150)GAA>AAA		protein phosphatase 1, regulatory (inhibitor)							83.0	80.0	81.0					7																	113558904		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558904C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.148G>A	7.37:g.113558904C>T	ENSP00000284601:p.Glu50Lys						p.E50K	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			1	179	-			50					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.148G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014099	0.93404	.	.	ENSG00000154415	ENST00000284601	T	0.18657	2.2	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50769	0.1635	M	0.76002	2.32	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	T	0.38824	-0.9643	10	0.56958	D	0.05	-0.0502	20.8794	0.99867	0.0:1.0:0.0:0.0	.	50	Q16821	PPR3A_HUMAN	K	50	ENSP00000284601:E50K	ENSP00000284601:E50K	E	-	1	0	PPP1R3A	113346140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.605000	0.67634	2.941000	0.99782	0.655000	0.94253	GAA		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
ANKRD7	56311	broad.mit.edu	37	7	117864828	117864828	+	5'UTR	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:117864828C>T	ENST00000265224.4	+	0	99				ANKRD7_ENST00000477532.1_Intron|ANKRD7_ENST00000357099.4_5'UTR|ANKRD7_ENST00000417525.1_5'UTR|ANKRD7_ENST00000433239.1_5'Flank	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7						male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCAGGGCGGACGGCTAGGAGT	0.602																																						uc003vji.2																			0					0						c.(-58--54)GACGG>GATGG		ankyrin repeat domain 7																																				SO:0001623	5_prime_UTR_variant	56311				male gonad development			g.chr7:117864828C>T	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.-57C>T	7.37:g.117864828C>T								NM_019644	NP_062618	Q92527	ANKR7_HUMAN			1	117	+								B4DYF5|Q96QN1|Q9UDM3	Translation_Start_Site	SNP	ENST00000265224.4	37	c.-56C>T	CCDS43638.1																																																																																				0.602	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708	
TBXAS1	6916	broad.mit.edu	37	7	139655361	139655361	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:139655361C>T	ENST00000336425.5	+	11	1032	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.R216C|TBXAS1_ENST00000263552.6_Missense_Mutation_p.R216C|TBXAS1_ENST00000416849.2_Missense_Mutation_p.R262C|TBXAS1_ENST00000411653.1_Missense_Mutation_p.R215C|TBXAS1_ENST00000414508.2_Missense_Mutation_p.R216C|TBXAS1_ENST00000425687.1_Missense_Mutation_p.R148C|TBXAS1_ENST00000448866.1_Missense_Mutation_p.R215C|TBXAS1_ENST00000458722.1_Missense_Mutation_p.R261C			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	215					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	ACACTGCAAGCGTTTCTTCGA	0.577																																						uc011kqv.1																			0				ovary(2)|breast(1)	3						c.(784-786)CGT>TGT		thromboxane A synthase 1, platelet isoform							76.0	82.0	80.0					7																	139655361		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139655361C>T	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.643C>T	7.37:g.139655361C>T	ENSP00000338087:p.Arg215Cys					TBXAS1_uc003vvh.2_Missense_Mutation_p.R216C|TBXAS1_uc010lne.2_Missense_Mutation_p.R148C|TBXAS1_uc011kqu.1_Missense_Mutation_p.R167C|TBXAS1_uc003vvi.2_Missense_Mutation_p.R216C|TBXAS1_uc003vvj.2_Missense_Mutation_p.R216C|TBXAS1_uc011kqw.1_Missense_Mutation_p.R196C	p.R262C	NM_001130966	NP_001124438	P24557	THAS_HUMAN			8	948	+	Melanoma(164;0.0142)		215			Cytoplasmic (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37	c.784C>T		.	.	.	.	.	.	.	.	.	.	C	20.6	4.024570	0.75390	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.91	5.91	0.95273	.	0.317652	0.35436	N	0.003201	T	0.80934	0.4719	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;1.0;0.999;0.999	D;D;P;D;D;P;P	0.66351	0.93;0.939;0.892;0.912;0.943;0.892;0.849	T	0.82874	-0.0241	10	0.87932	D	0	.	13.2195	0.59879	0.2617:0.7383:0.0:0.0	.	196;262;167;148;216;216;215	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	C	148;216;215;262;216;216;215;261;215	ENSP00000388736:R148C;ENSP00000263552:R216C;ENSP00000338087:R215C;ENSP00000389414:R262C;ENSP00000392361:R216C;ENSP00000392702:R216C;ENSP00000402536:R215C;ENSP00000411274:R261C;ENSP00000411326:R215C	ENSP00000263552:R216C	R	+	1	0	TBXAS1	139301830	0.016000	0.18221	0.847000	0.33407	0.694000	0.40290	1.113000	0.31184	2.793000	0.96121	0.655000	0.94253	CGT		0.577	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1		
TACC1	6867	broad.mit.edu	37	8	38677275	38677275	+	Silent	SNP	T	T	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr8:38677275T>C	ENST00000317827.4	+	3	892	c.513T>C	c.(511-513)gcT>gcC	p.A171A	TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520340.1_Silent_p.A135A|TACC1_ENST00000443286.2_Silent_p.A187A|TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000518415.1_Silent_p.A126A|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000379931.3_Silent_p.A171A|TACC1_ENST00000522752.1_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	171	Interaction with TDRD7.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAAAAGCAGCTCATGGCTGTG	0.532																																						uc010lwp.2																			0				ovary(1)	1						c.(511-513)GCT>GCC		transforming, acidic coiled-coil containing							86.0	88.0	88.0					8																	38677275		2203	4300	6503	SO:0001819	synonymous_variant	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38677275T>C	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.513T>C	8.37:g.38677275T>C						TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.2_Intron|TACC1_uc003xlz.2_5'UTR|TACC1_uc003xmc.3_5'UTR|TACC1_uc011lbz.1_Silent_p.A187A|TACC1_uc003xmb.3_Silent_p.A126A|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.3_Intron|TACC1_uc011lca.1_Silent_p.A171A|TACC1_uc011lcb.1_5'UTR|TACC1_uc011lcc.1_5'UTR|TACC1_uc011lcd.1_RNA|TACC1_uc003xmh.3_5'UTR|TACC1_uc010lwq.2_5'UTR	p.A171A	NM_006283	NP_006274	O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	892	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	171			Interaction with TDRD7.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	ENST00000317827.4	37	c.513T>C	CCDS6109.1																																																																																				0.532	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283	
KANK1	23189	broad.mit.edu	37	9	732407	732407	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr9:732407G>T	ENST00000382303.1	+	10	3687	c.3035G>T	c.(3034-3036)aGc>aTc	p.S1012I	KANK1_ENST00000382293.3_Missense_Mutation_p.S854I|KANK1_ENST00000382297.2_Missense_Mutation_p.S1012I|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1012					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GATGATTCCAGCTCAGATGAA	0.458																																						uc003zgl.1																			0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(3034-3036)AGC>ATC		KN motif and ankyrin repeat domains 1 isoform a							111.0	99.0	103.0					9																	732407		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732407G>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3035G>T	9.37:g.732407G>T	ENSP00000371740:p.Ser1012Ile					KANK1_uc003zgm.2_3'UTR|KANK1_uc003zgn.1_Missense_Mutation_p.S1012I|KANK1_uc003zgs.1_Missense_Mutation_p.S854I|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	p.S1012I	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3684	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1012					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.3035G>T	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.919674	0.92249	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293	T;T;T	0.45668	0.89;0.89;0.89	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	T	0.64594	0.2612	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.65475	-0.6159	10	0.72032	D	0.01	-0.9332	19.6939	0.96016	0.0:0.0:1.0:0.0	.	1012	Q14678	KANK1_HUMAN	I	1012;35;1012;854	ENSP00000371740:S1012I;ENSP00000371734:S1012I;ENSP00000371730:S854I	ENSP00000371730:S854I	S	+	2	0	KANK1	722407	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.092000	0.94157	2.660000	0.90430	0.655000	0.94253	AGC		0.458	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
STXBP1	6812	broad.mit.edu	37	9	130444743	130444743	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr9:130444743C>T	ENST00000373299.1	+	18	1721	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	STXBP1_ENST00000373302.3_Missense_Mutation_p.R536C|STXBP1_ENST00000481942.1_Intron	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	536					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CAGTGGCCCCCGCCTCATCAT	0.562																																						uc004brl.2																			0				skin(1)	1						c.(1606-1608)CGC>TGC		syntaxin binding protein 1 isoform b							67.0	65.0	66.0					9																	130444743		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130444743C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1606C>T	9.37:g.130444743C>T	ENSP00000362396:p.Arg536Cys					STXBP1_uc004brk.2_Missense_Mutation_p.R536C	p.R536C	NM_001032221	NP_001027392	P61764	STXB1_HUMAN			18	1803	+			536					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.1606C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	34	5.375745	0.95923	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.79454	-1.27;-1.27	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.92057	0.7483	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94180	0.7431	10	0.87932	D	0	-9.7998	17.1696	0.86826	0.0:1.0:0.0:0.0	.	536;536	P61764;P61764-2	STXB1_HUMAN;.	C	490;536;368;536	ENSP00000362399:R536C;ENSP00000362396:R536C	ENSP00000362396:R536C	R	+	1	0	STXBP1	129484564	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.713000	0.84693	2.644000	0.89710	0.561000	0.74099	CGC		0.562	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165	
