#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
KIF1B	23095	broad.mit.edu	37	1	10425617	10425617	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:10425617G>C	ENST00000377086.1	+	43	4865	c.4663G>C	c.(4663-4665)Gaa>Caa	p.E1555Q	KIF1B_ENST00000377081.1_Missense_Mutation_p.E1555Q|KIF1B_ENST00000263934.6_Missense_Mutation_p.E1509Q			O60333	KIF1B_HUMAN	kinesin family member 1B	1555					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.E1509K(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACTACCTTTGAAAGCGCCAT	0.552																																						uc001aqx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(4663-4665)GAA>CAA		kinesin family member 1B isoform b							112.0	104.0	106.0					1																	10425617		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10425617G>C	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4663G>C	1.37:g.10425617G>C	ENSP00000366290:p.Glu1555Gln					KIF1B_uc001aqw.3_Missense_Mutation_p.E1509Q|KIF1B_uc001aqy.2_Missense_Mutation_p.E1529Q|KIF1B_uc001aqz.2_Missense_Mutation_p.E1555Q|KIF1B_uc001ara.2_Missense_Mutation_p.E1515Q|KIF1B_uc001arb.2_Missense_Mutation_p.E1541Q	p.E1555Q	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	43	4865	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1555					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4663G>C		.	.	.	.	.	.	.	.	.	.	G	22.9	4.355862	0.82243	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.73681	-0.69;-0.77;-0.77	5.75	5.75	0.90469	.	0.053649	0.64402	D	0.000001	T	0.65491	0.2696	L	0.34521	1.04	0.80722	D	1	P;P;P;B;P;B	0.40638	0.565;0.627;0.725;0.155;0.704;0.241	B;B;B;B;B;B	0.35353	0.135;0.139;0.201;0.094;0.113;0.124	T	0.64080	-0.6491	10	0.28530	T	0.3	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	1541;1515;1555;1529;1555;1509	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	Q	1555;1509;1555;1555	ENSP00000263934:E1509Q;ENSP00000366290:E1555Q;ENSP00000366284:E1555Q	ENSP00000263934:E1509Q	E	+	1	0	KIF1B	10348204	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.869000	0.99810	2.701000	0.92244	0.650000	0.86243	GAA		0.552	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
CLCNKB	1188	broad.mit.edu	37	1	16374889	16374889	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:16374889C>T	ENST00000375679.4	+	6	661	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	CLCNKB_ENST00000375667.3_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	184					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCGTGTGCGCACCACGAC	0.662																																						uc001axw.3																			0				skin(1)	1						c.(550-552)CGC>TGC		chloride channel Kb isoform 1							57.0	57.0	57.0					1																	16374889		2203	4300	6503	SO:0001583	missense	1188				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16374889C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.550C>T	1.37:g.16374889C>T	ENSP00000364831:p.Arg184Cys					FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.R184C|CLCNKB_uc001axy.3_5'Flank	p.R184C	NM_000085	NP_000076	P51801	CLCKB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	6	630	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	184					B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.550C>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	18.37	3.608384	0.66558	.	.	ENSG00000184908	ENST00000375679;ENST00000331579	D	0.92911	-3.13	4.68	3.69	0.42338	Chloride channel, core (2);	0.349083	0.30649	N	0.009166	D	0.86456	0.5937	L	0.38649	1.16	0.80722	D	1	B	0.20052	0.041	B	0.21151	0.033	D	0.84245	0.0474	10	0.87932	D	0	.	8.4362	0.32789	0.2762:0.5817:0.1421:0.0	.	184	P51801	CLCKB_HUMAN	C	184	ENSP00000364831:R184C	ENSP00000332055:R184C	R	+	1	0	CLCNKB	16247476	1.000000	0.71417	0.627000	0.29227	0.928000	0.56348	2.311000	0.43717	2.139000	0.66308	0.655000	0.94253	CGC		0.662	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085	
CTH	1491	broad.mit.edu	37	1	70881655	70881655	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:70881655G>T	ENST00000370938.3	+	2	329	c.185G>T	c.(184-186)cGt>cTt	p.R62L	CTH_ENST00000411986.2_Missense_Mutation_p.R62L|CTH_ENST00000346806.2_Missense_Mutation_p.R62L|CTH_ENST00000464926.1_3'UTR	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GAATATAGCCGTTCTGGAAAT	0.378																																						uc001dfd.2																			0				lung(1)	1						c.(184-186)CGT>CTT		cystathionase isoform 1	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						84.0	91.0	89.0					1																	70881655		2203	4300	6503	SO:0001583	missense	1491				cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding	g.chr1:70881655G>T	BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.185G>T	1.37:g.70881655G>T	ENSP00000359976:p.Arg62Leu					CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.R62L|CTH_uc010oqq.1_Missense_Mutation_p.R62L	p.R62L	NM_001902	NP_001893	P32929	CGL_HUMAN			2	329	+			62				Substrate.	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000370938.3	37	c.185G>T	CCDS650.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153218	0.94645	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.94280	-1.95;-3.39;-1.95	5.55	5.55	0.83447	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.056280	0.64402	D	0.000001	D	0.97939	0.9322	H	0.95917	3.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.991;1.0	D	0.98720	1.0708	10	0.87932	D	0	-9.3947	18.6468	0.91413	0.0:0.0:1.0:0.0	.	62;62;62	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	L	62	ENSP00000413407:R62L;ENSP00000359976:R62L;ENSP00000311554:R62L	ENSP00000311554:R62L	R	+	2	0	CTH	70654243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.446000	0.97590	2.768000	0.95171	0.655000	0.94253	CGT		0.378	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025918.1	NM_001902	
SPRR2B	6701	broad.mit.edu	37	1	153043127	153043127	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:153043127G>A	ENST00000368755.2	-	1	189	c.189C>T	c.(187-189)tgC>tgT	p.C63C	SPRR2B_ENST00000368752.4_Silent_p.C63C|SPRR2B_ENST00000341611.2_Silent_p.C63C			P35325	SPR2B_HUMAN	small proline-rich protein 2B	63					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTTGGCTGGCAGGGTGGGG	0.557																																						uc001fbg.2																			0					0						c.(187-189)TGC>TGT		small proline-rich protein 2B							230.0	204.0	213.0					1																	153043127		2203	4300	6503	SO:0001819	synonymous_variant	6701				keratinization	cornified envelope|cytoplasm		g.chr1:153043127G>A	AF333952	CCDS30865.1	1q21-q22	2008-02-05			ENSG00000196805	ENSG00000196805			11262	protein-coding gene	gene with protein product		182268				8325635	Standard	NM_001017418		Approved		uc001fbg.3	P35325	OTTHUMG00000013863	ENST00000368755.2:c.189C>T	1.37:g.153043127G>A						SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	p.C63C	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	252	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		63					Q5T528	Silent	SNP	ENST00000368755.2	37	c.189C>T	CCDS30865.1																																																																																				0.557	SPRR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038905.2		
CHRNB2	1141	broad.mit.edu	37	1	154542048	154542048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:154542048C>T	ENST00000368476.3	+	2	439	c.175C>T	c.(175-177)Cag>Tag	p.Q59*		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	59					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GGTGACAGTACAGCTTATGGT	0.557																																						uc001ffg.2																			0					0						c.(175-177)CAG>TAG		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						56.0	52.0	54.0					1																	154542048		2203	4300	6503	SO:0001587	stop_gained	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154542048C>T	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.175C>T	1.37:g.154542048C>T	ENSP00000357461:p.Gln59*						p.Q59*	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	439	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		59			Extracellular (Potential).		Q9UEH9	Nonsense_Mutation	SNP	ENST00000368476.3	37	c.175C>T	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	37	6.503788	0.97620	.	.	ENSG00000160716	ENST00000368476	.	.	.	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7049	0.88306	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000357461:Q59X	Q	+	1	0	CHRNB2	152808672	0.058000	0.20735	0.997000	0.53966	0.866000	0.49608	0.438000	0.21559	2.498000	0.84270	0.561000	0.74099	CAG		0.557	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748	
OBSCN	84033	broad.mit.edu	37	1	228564849	228564849	+	Silent	SNP	A	A	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:228564849A>G	ENST00000422127.1	+	101	23180	c.23136A>G	c.(23134-23136)gcA>gcG	p.A7712A	OBSCN_ENST00000570156.2_Silent_p.A8669A|OBSCN_ENST00000366707.4_Silent_p.A5346A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7712	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACAAGACAGCAGTGCTGCGCG	0.692																																						uc009xez.1																			0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(23134-23136)GCA>GCG		obscurin, cytoskeletal calmodulin and							16.0	20.0	19.0					1																	228564849		2044	4199	6243	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228564849A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.23136A>G	1.37:g.228564849A>G						OBSCN_uc001hsr.1_Silent_p.A2341A	p.A7712A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			101	23180	+		Prostate(94;0.0405)	7712			Protein kinase 2.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.23136A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	9.746	1.166142	0.21621	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.82	-9.64	0.00541	.	.	.	.	.	T	0.14743	0.0356	.	.	.	0.28366	N	0.920243	.	.	.	.	.	.	T	0.10730	-1.0617	4	.	.	.	.	1.694	0.02858	0.2407:0.1477:0.1561:0.4555	.	.	.	.	G	2329	.	.	S	+	1	0	OBSCN	226631472	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-3.769000	0.00371	-2.637000	0.00431	-0.940000	0.02684	AGT		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
ZP4	57829	broad.mit.edu	37	1	238050695	238050695	+	Silent	SNP	A	A	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:238050695A>G	ENST00000366570.4	-	5	878	c.720T>C	c.(718-720)acT>acC	p.T240T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	240	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGCCACAGGAAGTAAATGGAA	0.502																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2																			0				ovary(2)|skin(1)	3						c.(718-720)ACT>ACC		zona pellucida glycoprotein 4 preproprotein							147.0	142.0	144.0					1																	238050695		2203	4300	6503	SO:0001819	synonymous_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050695A>G	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.720T>C	1.37:g.238050695A>G						LOC100130331_uc010pyc.1_Intron	p.T240T	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	720	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	240			ZP.|Extracellular (Potential).		B2RAE1	Silent	SNP	ENST00000366570.4	37	c.720T>C	CCDS1615.1																																																																																				0.502	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
GCSAML	148823	broad.mit.edu	37	1	247712494	247712494	+	Start_Codon_SNP	SNP	A	A	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:247712494A>G	ENST00000366488.4	+	1	105	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	GCSAML_ENST00000536561.1_Start_Codon_SNP_p.M1V|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Start_Codon_SNP_p.M1V|GCSAML_ENST00000366490.3_Silent_p.R121R|GCSAML_ENST00000366491.2_Start_Codon_SNP_p.M1V	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	1																	CTGTGAAAAGATGGGAAATTA	0.488																																						uc001idf.2																			0					0						c.(1-3)ATG>GTG		hypothetical protein LOC148823							100.0	92.0	95.0					1																	247712494		2203	4300	6503	SO:0001582	initiator_codon_variant	148823							g.chr1:247712494A>G	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.1A>G	1.37:g.247712494A>G	ENSP00000355444:p.Met1Val					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_RNA|C1orf150_uc001idb.3_RNA|C1orf150_uc009xgx.2_Intron	p.M1V	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		1	46	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		1					B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.1A>G	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.206263	0.39003	.	.	ENSG00000169224	ENST00000366491;ENST00000366489;ENST00000526896;ENST00000366488;ENST00000536561	.	.	.	3.41	3.41	0.39046	.	1.137930	0.06879	U	0.802213	T	0.65595	0.2706	.	.	.	0.26238	N	0.978916	D	0.67145	0.996	D	0.70935	0.971	T	0.49082	-0.8976	8	0.87932	D	0	-4.3605	8.5492	0.33440	1.0:0.0:0.0:0.0	.	1	Q5JQS6	CA150_HUMAN	V	1	.	ENSP00000355444:M1V	M	+	1	0	C1orf150	245779117	0.957000	0.32711	0.924000	0.36721	0.876000	0.50452	2.123000	0.41996	1.792000	0.52537	0.482000	0.46254	ATG		0.488	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278	Missense_Mutation
PTEN	5728	broad.mit.edu	37	10	89712007	89712007	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr10:89712007G>T	ENST00000371953.3	+	6	1982	c.625G>T	c.(625-627)Gga>Tga	p.G209*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	209	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.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(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)		GTTCAGTGGCGGAACTTGCAG	0.328		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		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		52	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(4)|Deletion - In frame(1)	p.R55fs*1(4)|p.?(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)	prostate(16)|central_nervous_system(13)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	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						c.(625-627)GGA>TGA		phosphatase and tensin homolog							145.0	144.0	144.0					10																	89712007		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.chr10:89712007G>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.625G>T	10.37:g.89712007G>T	ENSP00000361021:p.Gly209*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G209*	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)	7	1656	+		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)	209			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.625G>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	50	16.492015	0.99864	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.85	5.85	0.93711	.	0.150567	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.4963	14.9476	0.71044	0.0:0.0:0.8572:0.1428	.	.	.	.	X	209	.	.	G	+	1	0	PTEN	89701987	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.399000	0.79935	2.777000	0.95525	0.585000	0.79938	GGA		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PIPSL	266971	broad.mit.edu	37	10	95718836	95718836	+	RNA	SNP	A	A	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr10:95718836A>G	ENST00000480546.1	-	0	2461					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										CATGGCACAAACAATCTTCTC	0.537																																						uc009xuj.2																			0					0						c.(2317-2319)GTT>GCT		RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha;          Short=PtdIns(4)P-5-kinase alpha;          Short=PIP5KIalpha;          EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha;																																						266971							g.chr10:95718836A>G	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718836A>G							p.V773A	NR_002319						1	2837	-								Q6NUK8	Missense_Mutation	SNP	ENST00000480546.1	37	c.2318T>C																																																																																					0.537	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319	
SMC3	9126	broad.mit.edu	37	10	112350788	112350788	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr10:112350788G>A	ENST00000361804.4	+	17	1836	c.1710G>A	c.(1708-1710)acG>acA	p.T570T		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	570	Flexible hinge.				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.T570T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGTCAGCACGAAGATTTTAA	0.363																																						uc001kze.2																			1	Substitution - coding silent(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1708-1710)ACG>ACA		structural maintenance of chromosomes 3							104.0	103.0	104.0					10																	112350788		2203	4300	6503	SO:0001819	synonymous_variant	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112350788G>A	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1710G>A	10.37:g.112350788G>A							p.T570T	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	17	1836	+		Breast(234;0.0848)|Lung NSC(174;0.238)	570			Flexible hinge.		A8K156|O60464|Q5T482	Silent	SNP	ENST00000361804.4	37	c.1710G>A	CCDS31285.1																																																																																				0.363	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445	
TRIM44	54765	broad.mit.edu	37	11	35747531	35747531	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:35747531G>A	ENST00000299413.5	+	3	1114	c.807G>A	c.(805-807)gtG>gtA	p.V269V	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	269						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TTCAGAAAGTGATTGCTGATG	0.423																																						uc001mwi.2																			0				skin(1)	1						c.(805-807)GTG>GTA		DIPB protein							66.0	60.0	62.0					11																	35747531		2202	4298	6500	SO:0001819	synonymous_variant	54765					intracellular	protein binding|zinc ion binding	g.chr11:35747531G>A	BC024031	CCDS31461.1	11p13	2011-04-20	2011-01-25		ENSG00000166326	ENSG00000166326		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19016	protein-coding gene	gene with protein product		612298	"""tripartite motif-containing 44"""				Standard	NM_017583		Approved	DIPB, MC7	uc001mwi.2	Q96DX7	OTTHUMG00000166312	ENST00000299413.5:c.807G>A	11.37:g.35747531G>A							p.V269V	NM_017583	NP_060053	Q96DX7	TRI44_HUMAN			3	1114	+	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)	269					D3DR14|Q96QY2|Q9UGK0	Silent	SNP	ENST00000299413.5	37	c.807G>A	CCDS31461.1																																																																																				0.423	TRIM44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389081.1	NM_017583	
MS4A14	84689	broad.mit.edu	37	11	60183896	60183896	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:60183896G>A	ENST00000300187.6	+	5	1732	c.1455G>A	c.(1453-1455)cgG>cgA	p.R485R	MS4A14_ENST00000531783.1_Silent_p.R518R|MS4A14_ENST00000395005.2_Silent_p.R468R|MS4A14_ENST00000531787.1_Silent_p.R373R	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	485	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						CCTCAAGACGGCATTCCTTAA	0.393																																						uc001npj.2																			0				breast(1)	1						c.(1453-1455)CGG>CGA		membrane-spanning 4-domains, subfamily A, member							83.0	85.0	84.0					11																	60183896		2203	4300	6503	SO:0001819	synonymous_variant	84689					integral to membrane	receptor activity	g.chr11:60183896G>A	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.1455G>A	11.37:g.60183896G>A						MS4A14_uc001npi.2_Silent_p.R373R|MS4A14_uc001npn.2_Silent_p.R223R|MS4A14_uc001npk.2_Silent_p.R468R|MS4A14_uc001npl.2_Silent_p.R223R|MS4A14_uc001npm.2_Silent_p.R223R	p.R485R	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	2020	+			485			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Silent	SNP	ENST00000300187.6	37	c.1455G>A	CCDS31569.1																																																																																				0.393	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
PRPF19	27339	broad.mit.edu	37	11	60665709	60665709	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:60665709G>A	ENST00000227524.4	-	14	1380	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GATGGGGCCCGAGTGGCCAGG	0.532																																						uc001nqf.2																			0				ovary(1)	1						c.(1174-1176)TCG>TTG		PRP19/PSO4 pre-mRNA processing factor 19							53.0	55.0	54.0					11																	60665709		2203	4299	6502	SO:0001583	missense	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60665709G>A	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1175C>T	11.37:g.60665709G>A	ENSP00000227524:p.Ser392Leu						p.S392L	NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN			14	1382	-			392			WD 5.			Missense_Mutation	SNP	ENST00000227524.4	37	c.1175C>T	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192622	0.94960	.	.	ENSG00000110107	ENST00000227524	T	0.61510	0.1	5.16	5.16	0.70880	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);Ricin B lectin (1);	0.114669	0.64402	D	0.000010	T	0.51856	0.1699	N	0.25332	0.735	0.80722	D	1	P	0.43607	0.812	B	0.43445	0.42	T	0.57516	-0.7798	10	0.62326	D	0.03	-9.2532	18.4642	0.90749	0.0:0.0:1.0:0.0	.	392	Q9UMS4	PRP19_HUMAN	L	392	ENSP00000227524:S392L	ENSP00000227524:S392L	S	-	2	0	PRPF19	60422285	1.000000	0.71417	0.979000	0.43373	0.996000	0.88848	6.087000	0.71362	2.679000	0.91253	0.650000	0.86243	TCG		0.532	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502	
HEPHL1	341208	broad.mit.edu	37	11	93778980	93778980	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:93778980G>A	ENST00000315765.9	+	2	320	c.312G>A	c.(310-312)ttG>ttA	p.L104L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	104	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)	p.L104L(1)		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)				GCCCCATCTTGAGGGCCGAAG	0.468																																						uc001pep.2																			1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(310-312)TTG>TTA		hephaestin-like 1 precursor							75.0	75.0	75.0					11																	93778980		1876	4103	5979	SO:0001819	synonymous_variant	341208				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	g.chr11:93778980G>A	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.312G>A	11.37:g.93778980G>A							p.L104L	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN			2	469	+		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)	104			Plastocyanin-like 1.|Extracellular (Potential).		Q3C1W7	Silent	SNP	ENST00000315765.9	37	c.312G>A	CCDS44710.1																																																																																				0.468	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396103.2	XM_291947	
OR10G8	219869	broad.mit.edu	37	11	123900691	123900691	+	Missense_Mutation	SNP	G	G	A	rs116699538	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:123900691G>A	ENST00000431524.1	+	1	395	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCTGTGATCGCTACCTGGCC	0.567													G|||	5	0.000998403	0.0038	0.0	5008	,	,		20912	0.0		0.0	False		,,,				2504	0.0					uc001pzp.1																			0				ovary(1)|skin(1)	2						c.(361-363)CGC>CAC		olfactory receptor, family 10, subfamily G,		G	HIS/ARG	14,4388	23.3+/-48.9	0,14,2187	152.0	142.0	146.0		362	2.1	1.0	11	dbSNP_132	146	0,8598		0,0,4299	yes	missense	OR10G8	NM_001004464.1	29	0,14,6486	AA,AG,GG		0.0,0.318,0.1077	possibly-damaging	121/312	123900691	14,12986	2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900691G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.362G>A	11.37:g.123900691G>A	ENSP00000389072:p.Arg121His						p.R121H	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	362	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	121			Cytoplasmic (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.362G>A	CCDS31704.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.53	2.562290	0.45694	0.00318	0.0	ENSG00000234560	ENST00000431524	T	0.77489	-1.1	3.04	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.149054	0.28671	N	0.014539	T	0.78266	0.4256	M	0.89658	3.05	0.38822	D	0.95565	P	0.34587	0.458	B	0.31290	0.127	T	0.79077	-0.1951	10	0.72032	D	0.01	.	9.3393	0.38069	0.1142:0.0:0.8858:0.0	.	121	Q8NGN5	O10G8_HUMAN	H	121	ENSP00000389072:R121H	ENSP00000389072:R121H	R	+	2	0	OR10G8	123405901	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	8.559000	0.90708	0.593000	0.29745	-0.157000	0.13467	CGC		0.567	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464	
DENND5B	160518	broad.mit.edu	37	12	31545306	31545306	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:31545306G>A	ENST00000389082.5	-	19	3625	c.3361C>T	c.(3361-3363)Ctg>Ttg	p.L1121L	DENND5B_ENST00000306833.6_Silent_p.L1156L|DENND5B_ENST00000536562.1_Silent_p.L1156L	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1121	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCTCCACACAGCAACACGGTG	0.468																																						uc001rki.1																			0				ovary(1)|central_nervous_system(1)	2						c.(3361-3363)CTG>TTG		DENN/MADD domain containing 5B							57.0	55.0	56.0					12																	31545306		1919	4127	6046	SO:0001819	synonymous_variant	160518					integral to membrane		g.chr12:31545306G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3361C>T	12.37:g.31545306G>A						DENND5B_uc001rkh.1_Silent_p.L1156L|DENND5B_uc009zjq.1_Intron	p.L1121L	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			19	3547	-			1121			RUN 2.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Silent	SNP	ENST00000389082.5	37	c.3361C>T	CCDS44857.1																																																																																				0.468	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973	
KMT2D	8085	broad.mit.edu	37	12	49427983	49427983	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:49427983C>T	ENST00000301067.7	-	38	10606	c.10607G>A	c.(10606-10608)cGc>cAc	p.R3536H	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3536	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCGGGACTTGCGGTGTACACC	0.557																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(10606-10608)CGC>CAC		myeloid/lymphoid or mixed-lineage leukemia 2							105.0	104.0	104.0					12																	49427983		2027	4198	6225	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49427983C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10607G>A	12.37:g.49427983C>T	ENSP00000301067:p.Arg3536His	HNSCC(34;0.089)					p.R3536H	NM_003482	NP_003473	O14686	MLL2_HUMAN			38	10607	-			3536			Gln-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10607G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560000	0.45590	.	.	ENSG00000167548	ENST00000301067	T	0.40476	1.03	5.38	5.38	0.77491	.	0.000000	0.37304	N	0.002144	T	0.62048	0.2396	L	0.54323	1.7	0.52501	D	0.999959	D	0.89917	1.0	D	0.85130	0.997	T	0.63355	-0.6656	10	0.87932	D	0	.	18.2915	0.90131	0.0:1.0:0.0:0.0	.	3536	O14686	MLL2_HUMAN	H	3536	ENSP00000301067:R3536H	ENSP00000301067:R3536H	R	-	2	0	MLL2	47714250	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.711000	0.92665	0.563000	0.77884	CGC		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
OR6C6	283365	broad.mit.edu	37	12	55688853	55688853	+	Missense_Mutation	SNP	G	G	A	rs77411445	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:55688853G>A	ENST00000358433.2	-	1	163	c.164C>T	c.(163-165)aCg>aTg	p.T55M		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATACATTGGCGTCTTGAGCCG	0.398													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16161	0.0		0.0	False		,,,				2504	0.001					uc010sph.1																			0				large_intestine(1)|skin(1)	2						c.(163-165)ACG>ATG		olfactory receptor, family 6, subfamily C,		G	MET/THR	0,4406		0,0,2203	82.0	84.0	83.0		164	3.3	0.0	12	dbSNP_131	83	1,8599		0,1,4299	no	missense	OR6C6	NM_001005493.1	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	55/315	55688853	1,13005	2203	4300	6503	SO:0001583	missense	283365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55688853G>A		CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.164C>T	12.37:g.55688853G>A	ENSP00000351211:p.Thr55Met						p.T55M	NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN			1	164	-			55			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000358433.2	37	c.164C>T	CCDS31817.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	-	6.126	0.391566	0.11581	0.0	1.16E-4	ENSG00000188324	ENST00000358433	T	0.00481	7.11	4.24	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.150880	0.30611	N	0.009244	T	0.00695	0.0023	M	0.84846	2.72	0.09310	N	1	B	0.31989	0.35	B	0.32624	0.149	T	0.24584	-1.0156	10	0.72032	D	0.01	.	12.0283	0.53384	0.0871:0.0:0.9129:0.0	.	55	A6NF89	OR6C6_HUMAN	M	55	ENSP00000351211:T55M	ENSP00000351211:T55M	T	-	2	0	OR6C6	53975120	0.016000	0.18221	0.027000	0.17364	0.194000	0.23727	1.541000	0.36126	1.137000	0.42214	0.580000	0.79431	ACG		0.398	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398151.1		
AVPR1A	552	broad.mit.edu	37	12	63543656	63543656	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:63543656C>T	ENST00000299178.2	-	1	1066	c.961G>A	c.(961-963)Gtc>Atc	p.V321I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	321					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CCGGTCCAGACGGACATGGGA	0.532																																						uc001sro.1																			0					0						c.(961-963)GTC>ATC		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						82.0	74.0	77.0					12																	63543656		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543656C>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.961G>A	12.37:g.63543656C>T	ENSP00000299178:p.Val321Ile						p.V321I	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2935	-			321			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.961G>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.409286	0.01155	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.70399	-0.48;0.32	5.46	-10.9	0.00192	GPCR, rhodopsin-like superfamily (1);	3.559570	0.00447	N	0.000089	T	0.46425	0.1392	N	0.17248	0.465	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.27806	-1.0063	9	.	.	.	-0.1158	6.4897	0.22109	0.1269:0.6444:0.1478:0.0809	.	321	P37288	V1AR_HUMAN	I	102;321	ENSP00000449822:V102I;ENSP00000299178:V321I	.	V	-	1	0	AVPR1A	61829923	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.337000	0.00507	-2.690000	0.00404	-1.056000	0.02311	GTC		0.532	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1		
NOS1	4842	broad.mit.edu	37	12	117703242	117703242	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:117703242C>T	ENST00000338101.4	-	11	2019	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.R672H			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCCCCGGCAGCGGTACTCATT	0.602																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			0				ovary(3)|skin(3)|pancreas(1)	7						c.(2014-2016)CGC>CAC		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						35.0	38.0	37.0					12																	117703242		2105	4263	6368	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117703242C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2015G>A	12.37:g.117703242C>T	ENSP00000337459:p.Arg672His						p.R672H	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	12	2701	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		672						Missense_Mutation	SNP	ENST00000338101.4	37	c.2015G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.965956	0.74131	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.26660	1.72;1.72	5.37	4.48	0.54585	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.47173	0.1431	M	0.79258	2.445	0.80722	D	1	D	0.71674	0.998	P	0.58391	0.838	T	0.54801	-0.8239	10	0.87932	D	0	-23.9465	14.1209	0.65186	0.0:0.9273:0.0:0.0727	.	672	P29475	NOS1_HUMAN	H	567;672;672;672	ENSP00000320758:R672H;ENSP00000337459:R672H	ENSP00000320758:R672H	R	-	2	0	NOS1	116187625	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.753000	0.62183	1.503000	0.48686	0.655000	0.94253	CGC		0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
GPR12	2835	broad.mit.edu	37	13	27332980	27332980	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr13:27332980G>A	ENST00000381436.2	-	1	1447	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	GPR12_ENST00000405846.3_Missense_Mutation_p.R329C			P47775	GPR12_HUMAN	G protein-coupled receptor 12	329					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.R329C(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CTGGGCGAGCGCGCTCTCTGG	0.537																																						uc010aal.2																			1	Substitution - Missense(1)		large_intestine(1)		0						c.(985-987)CGC>TGC		G protein-coupled receptor 12							65.0	67.0	66.0					13																	27332980		2203	4300	6503	SO:0001583	missense	2835					integral to plasma membrane		g.chr13:27332980G>A	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.985C>T	13.37:g.27332980G>A	ENSP00000370844:p.Arg329Cys					GPR12_uc010tdl.1_Missense_Mutation_p.R170C	p.R329C	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	1207	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	329			Cytoplasmic (Potential).		Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.985C>T	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372641	0.61624	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.38077	1.16;1.16	5.55	4.63	0.57726	.	0.000000	0.32093	N	0.006590	T	0.58409	0.2120	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61802	-0.6988	10	0.87932	D	0	.	15.5018	0.75705	0.0:0.0:0.814:0.186	.	329	P47775	GPR12_HUMAN	C	329	ENSP00000384932:R329C;ENSP00000370844:R329C	ENSP00000370844:R329C	R	-	1	0	GPR12	26230980	1.000000	0.71417	0.943000	0.38184	0.925000	0.55904	3.827000	0.55745	2.629000	0.89072	0.561000	0.74099	CGC		0.537	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2		
ADCY4	196883	broad.mit.edu	37	14	24795366	24795366	+	Missense_Mutation	SNP	C	C	T	rs199640938		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr14:24795366C>T	ENST00000310677.4	-	13	1687	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	ADCY4_ENST00000418030.2_Missense_Mutation_p.R525H|ADCY4_ENST00000396747.3_Missense_Mutation_p.R218H|ADCY4_ENST00000554068.2_Missense_Mutation_p.R525H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	525					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCGGGGGGTACGGCTCCTGCA	0.592																																						uc001wov.2																			0				ovary(1)|lung(1)|pancreas(1)	3						c.(1573-1575)CGT>CAT		adenylate cyclase 4							65.0	62.0	63.0					14																	24795366		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24795366C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1574G>A	14.37:g.24795366C>T	ENSP00000312126:p.Arg525His					ADCY4_uc001wow.2_Missense_Mutation_p.R525H|ADCY4_uc010toh.1_Missense_Mutation_p.R211H|ADCY4_uc001wox.2_Missense_Mutation_p.R525H|ADCY4_uc001woy.2_Missense_Mutation_p.R525H	p.R525H	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	12	1580	-			525			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1574G>A	CCDS9627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.30|19.30	3.801497|3.801497	0.70682|0.70682	.|.	.|.	ENSG00000129467|ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747|ENST00000556932	T;T;T;T|.	0.77620|.	-1.11;-1.11;-1.11;-1.11|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	0.188295|.	0.26907|.	N|.	0.021898|.	T|T	0.52709|0.52709	0.1751|0.1751	L|L	0.29908|0.29908	0.895|0.895	0.38500|0.38500	D|D	0.948201|0.948201	B|.	0.09022|.	0.002|.	B|.	0.13407|.	0.009|.	T|T	0.52320|0.52320	-0.8591|-0.8591	10|5	0.56958|.	D|.	0.05|.	.|.	12.7327|12.7327	0.57206|0.57206	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	525|.	Q8NFM4|.	ADCY4_HUMAN|.	H|I	525;525;525;218|98	ENSP00000312126:R525H;ENSP00000452250:R525H;ENSP00000393177:R525H;ENSP00000379971:R218H|.	ENSP00000312126:R525H|.	R|V	-|-	2|1	0|0	ADCY4|ADCY4	23865206|23865206	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.734000|0.734000	0.41952|0.41952	2.412000|2.412000	0.44609|0.44609	2.393000|2.393000	0.81446|0.81446	0.591000|0.591000	0.81541|0.81541	CGT|GTA		0.592	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4		
GALC	2581	broad.mit.edu	37	14	88431916	88431916	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr14:88431916G>A	ENST00000261304.2	-	9	1072	c.966C>T	c.(964-966)tgC>tgT	p.C322C	GALC_ENST00000544807.2_Silent_p.C266C|GALC_ENST00000393568.4_Silent_p.C299C|GALC_ENST00000393569.2_Silent_p.C296C	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	322					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATCAACCCGCATCTCCCAT	0.448																																						uc001xvt.2																			0					0						c.(964-966)TGC>TGT		galactosylceramidase isoform a precursor							74.0	81.0	79.0					14																	88431916		1920	4131	6051	SO:0001819	synonymous_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88431916G>A	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.966C>T	14.37:g.88431916G>A						GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Silent_p.C296C|GALC_uc010tvy.1_Silent_p.C299C|GALC_uc010tvz.1_Silent_p.C266C|GALC_uc001xvu.1_Silent_p.C322C	p.C322C	NM_000153	NP_000144	P54803	GALC_HUMAN			9	1365	-			322					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	ENST00000261304.2	37	c.966C>T	CCDS9878.2																																																																																				0.448	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2		
AHNAK2	113146	broad.mit.edu	37	14	105415138	105415138	+	Missense_Mutation	SNP	A	A	C			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr14:105415138A>C	ENST00000333244.5	-	7	6769	c.6650T>G	c.(6649-6651)gTg>gGg	p.V2217G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2217						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTCACGTCCACCTGGCCAGC	0.627																																						uc010axc.1																			0				ovary(1)	1						c.(6649-6651)GTG>GGG		AHNAK nucleoprotein 2							106.0	106.0	106.0					14																	105415138		1926	4140	6066	SO:0001583	missense	113146					nucleus		g.chr14:105415138A>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6650T>G	14.37:g.105415138A>C	ENSP00000353114:p.Val2217Gly					AHNAK2_uc001ypx.2_Missense_Mutation_p.V2117G	p.V2217G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	6770	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2217					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.6650T>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	10.55	1.380321	0.24944	.	.	ENSG00000185567	ENST00000333244	T	0.01406	4.93	3.94	-1.61	0.08399	.	.	.	.	.	T	0.04907	0.0132	M	0.82323	2.585	0.09310	N	1	D	0.71674	0.998	D	0.74023	0.982	T	0.39881	-0.9592	9	0.23302	T	0.38	.	0.6933	0.00895	0.4545:0.1326:0.2026:0.2104	.	2217	Q8IVF2	AHNK2_HUMAN	G	2217	ENSP00000353114:V2217G	ENSP00000353114:V2217G	V	-	2	0	AHNAK2	104486183	0.012000	0.17670	0.000000	0.03702	0.006000	0.05464	-0.196000	0.09532	0.099000	0.17552	0.397000	0.26171	GTG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T	rs200673320		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr15:20743796C>T	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493																																						uc001ytk.2																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(406-408)ACG>ACA		golgi autoantigen, golgin subfamily a, 6-like 6							31.0	8.0	19.0					15																	20743796		336	402	738	SO:0001819	synonymous_variant	727832							g.chr15:20743796C>T	AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.408G>A	15.37:g.20743796C>T							p.T136T	NM_001145004	NP_001138476	A8MZA4	GG6L6_HUMAN			4	499	-			136			Potential.		D3YTC0	Silent	SNP	ENST00000427390.2	37	c.408G>A	CCDS45184.1																																																																																				0.493	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004	
MKRN3	7681	broad.mit.edu	37	15	23810982	23810982	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr15:23810982C>T	ENST00000314520.3	+	1	529	c.53C>T	c.(52-54)gCa>gTa	p.A18V	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Missense_Mutation_p.A18V|MKRN3_ENST00000568252.1_Missense_Mutation_p.A18V	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	18					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGGGCCCAGGCAGGTGCTGAG	0.637																																						uc001ywh.3																			0				lung(6)|large_intestine(2)|ovary(2)	10						c.(52-54)GCA>GTA		makorin ring finger protein 3							19.0	25.0	23.0					15																	23810982		2203	4299	6502	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23810982C>T	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.53C>T	15.37:g.23810982C>T	ENSP00000313881:p.Ala18Val					MKRN3_uc001ywi.2_Missense_Mutation_p.A18V|MKRN3_uc010ayi.1_Missense_Mutation_p.A18V	p.A18V	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	529	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	18						Missense_Mutation	SNP	ENST00000314520.3	37	c.53C>T	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	c	14.40	2.523244	0.44866	.	.	ENSG00000179455	ENST00000314520	T	0.36340	1.26	3.36	0.245	0.15512	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	P;B	0.37101	0.582;0.046	B;B	0.31614	0.133;0.011	T	0.12218	-1.0556	9	0.29301	T	0.29	.	1.8063	0.03082	0.2015:0.4561:0.2196:0.1229	.	18;18	Q6NSB6;Q13064	.;MKRN3_HUMAN	V	18	ENSP00000313881:A18V	ENSP00000313881:A18V	A	+	2	0	MKRN3	21362075	0.001000	0.12720	0.078000	0.20375	0.795000	0.44927	0.160000	0.16462	0.058000	0.16222	0.563000	0.77884	GCA		0.637	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664	
NEO1	4756	broad.mit.edu	37	15	73562540	73562540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr15:73562540G>A	ENST00000339362.5	+	18	3131	c.2684G>A	c.(2683-2685)tGg>tAg	p.W895*	NEO1_ENST00000558964.1_Nonsense_Mutation_p.W895*|NEO1_ENST00000560262.1_Nonsense_Mutation_p.W895*|NEO1_ENST00000261908.6_Nonsense_Mutation_p.W895*			Q92859	NEO1_HUMAN	neogenin 1	895	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACCGTCCGATGGAAAACCAAC	0.448																																						uc002avm.3																			0				pancreas(1)	1						c.(2683-2685)TGG>TAG		neogenin homolog 1 precursor							91.0	85.0	87.0					15																	73562540		2198	4297	6495	SO:0001587	stop_gained	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73562540G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2684G>A	15.37:g.73562540G>A	ENSP00000341198:p.Trp895*					NEO1_uc010ukx.1_Nonsense_Mutation_p.W895*|NEO1_uc010uky.1_Nonsense_Mutation_p.W895*|NEO1_uc010ukz.1_Nonsense_Mutation_p.W319*|NEO1_uc002avn.3_Nonsense_Mutation_p.W544*	p.W895*	NM_002499	NP_002490	Q92859	NEO1_HUMAN			17	2826	+			895			Extracellular (Potential).|Fibronectin type-III 5.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Nonsense_Mutation	SNP	ENST00000339362.5	37	c.2684G>A	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	42	9.422675	0.99166	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9075	19.8379	0.96666	0.0:0.0:1.0:0.0	.	.	.	.	X	895;617;895	.	ENSP00000261908:W895X	W	+	2	0	NEO1	71349593	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	TGG		0.448	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
NOMO1	23420	broad.mit.edu	37	16	14968903	14968903	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:14968903G>A	ENST00000287667.7	+	19	2236	c.2065G>A	c.(2065-2067)Gac>Aac	p.D689N		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	689						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GTCTTCCATCGACAGTGAACC	0.562																																						uc002dcv.2																			0				ovary(1)	1						c.(2065-2067)GAC>AAC		nodal modulator 1 precursor							80.0	85.0	83.0					16																	14968903		2195	4300	6495	SO:0001583	missense	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14968903G>A	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.2065G>A	16.37:g.14968903G>A	ENSP00000287667:p.Asp689Asn						p.D689N	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			19	2131	+			689			Extracellular (Potential).		P78421|Q8IW21|Q96DG0	Missense_Mutation	SNP	ENST00000287667.7	37	c.2065G>A	CCDS10556.1	.	.	.	.	.	.	.	.	.	.	.	16.00	2.999472	0.54147	.	.	ENSG00000103512	ENST00000287667;ENST00000456867;ENST00000536948	T	0.04317	3.65	2.86	2.86	0.33363	.	0.052511	0.85682	D	0.000000	T	0.04318	0.0119	L	0.50333	1.59	0.58432	D	0.999991	P	0.48640	0.913	B	0.33121	0.158	T	0.53954	-0.8365	10	0.30078	T	0.28	-32.4641	11.5317	0.50614	0.0:0.0:1.0:0.0	.	689	Q15155	NOMO1_HUMAN	N	689;689;522	ENSP00000287667:D689N	ENSP00000287667:D689N	D	+	1	0	NOMO1	14876404	1.000000	0.71417	0.998000	0.56505	0.351000	0.29236	8.516000	0.90552	1.590000	0.49995	0.184000	0.17185	GAC		0.562	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1		
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						uc010vbl.1																			0					0						c.(106-108)CTG>TTG		SubName: Full=Putative uncharacterized protein ENSP00000219758;																																						730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A						uc002diq.3_Intron	p.L36L	NR_003370						7	603	-								A8K6T4|B3KWX9|O75704	Silent	SNP	ENST00000546471.1	37	c.106C>T																																																																																					0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370	
SCNN1B	6338	broad.mit.edu	37	16	23366788	23366788	+	Missense_Mutation	SNP	G	G	A	rs373232226		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:23366788G>A	ENST00000343070.2	+	4	930	c.754G>A	c.(754-756)Gga>Aga	p.G252R	SCNN1B_ENST00000307331.5_Missense_Mutation_p.G297R|SCNN1B_ENST00000568085.1_Missense_Mutation_p.G252R|SCNN1B_ENST00000568923.1_Missense_Mutation_p.G225R	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	252					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTGCCTATTCGGAGCTGAGCC	0.617																																						uc002dln.2																			0				ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7						c.(754-756)GGA>AGA		sodium channel, nonvoltage-gated 1, beta	Amiloride(DB00594)|Triamterene(DB00384)	G	ARG/GLY	0,4394		0,0,2197	63.0	57.0	59.0		754	5.2	0.9	16		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCNN1B	NM_000336.2	125	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	252/641	23366788	1,12993	2197	4300	6497	SO:0001583	missense	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23366788G>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.754G>A	16.37:g.23366788G>A	ENSP00000345751:p.Gly252Arg						p.G252R	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	4	930	+			252			Extracellular (By similarity).		C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Missense_Mutation	SNP	ENST00000343070.2	37	c.754G>A	CCDS10609.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618178	0.46736	0.0	1.16E-4	ENSG00000168447	ENST00000343070;ENST00000307331	T;T	0.61158	0.13;0.13	5.15	5.15	0.70609	.	0.075051	0.56097	D	0.000034	T	0.69602	0.3129	L	0.39397	1.21	0.48696	D	0.999697	D	0.89917	1.0	D	0.97110	1.0	T	0.71981	-0.4428	10	0.62326	D	0.03	-2.9526	17.6236	0.88088	0.0:0.0:1.0:0.0	.	252	P51168	SCNNB_HUMAN	R	252;297	ENSP00000345751:G252R;ENSP00000302874:G297R	ENSP00000302874:G297R	G	+	1	0	SCNN1B	23274289	1.000000	0.71417	0.860000	0.33809	0.044000	0.14063	5.345000	0.65987	2.397000	0.81536	0.561000	0.74099	GGA		0.617	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		
ATP2A1	487	broad.mit.edu	37	16	28914740	28914740	+	Missense_Mutation	SNP	G	G	A	rs200445830		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:28914740G>A	ENST00000357084.3	+	21	3226	c.2959G>A	c.(2959-2961)Gtt>Att	p.V987I	ATP2A1_ENST00000536376.1_Missense_Mutation_p.V862I|ATP2A1_ENST00000395503.4_Missense_Mutation_p.V987I	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	987					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCTCAAGTTCGTTGCTCGGAA	0.627																																						uc002dro.1																			0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2959-2961)GTT>ATT		ATPase, Ca++ transporting, fast twitch 1 isoform							125.0	101.0	109.0					16																	28914740		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28914740G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2959G>A	16.37:g.28914740G>A	ENSP00000349595:p.Val987Ile					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V987I|ATP2A1_uc002drp.1_Missense_Mutation_p.V862I	p.V987I	NM_173201	NP_775293	O14983	AT2A1_HUMAN			21	3143	+			987			Cytoplasmic (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2959G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	8.143	0.785727	0.16189	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.95307	-3.67;-3.67;-3.67	5.62	-10.2	0.00374	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.422321	0.24993	N	0.033969	T	0.78451	0.4285	N	0.02202	-0.64	0.24417	N	0.99463	B;B;B	0.10296	0.002;0.003;0.001	B;B;B	0.09377	0.002;0.004;0.002	T	0.67146	-0.5744	10	0.08179	T	0.78	.	16.0327	0.80593	0.1755:0.0972:0.7273:0.0	.	862;987;987	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	I	987;987;862	ENSP00000349595:V987I;ENSP00000378879:V987I;ENSP00000443101:V862I	ENSP00000349595:V987I	V	+	1	0	ATP2A1	28822241	0.000000	0.05858	0.701000	0.30321	0.762000	0.43233	-2.067000	0.01383	-1.367000	0.02152	-1.149000	0.01842	GTT		0.627	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320	
SCIMP	388325	broad.mit.edu	37	17	5118261	5118261	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr17:5118261G>A	ENST00000574081.1	-	4	346	c.242C>T	c.(241-243)cCg>cTg	p.P81L	RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000399600.4_Missense_Mutation_p.P74L|SCIMP_ENST00000571800.1_Missense_Mutation_p.P74L|SCIMP_ENST00000574297.1_Missense_Mutation_p.P81L|RP11-333E1.1_ENST00000575601.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	81	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											TGGCAGAGGCGGTAATTGAAC	0.433																																						uc002gbh.2																			0				ovary(1)	1						c.(241-243)CCG>CTG		hypothetical protein LOC388325							73.0	75.0	74.0					17																	5118261		1951	4138	6089	SO:0001583	missense	388325					integral to membrane		g.chr17:5118261G>A	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"""SLP65/SLP76, Csk-interacting membrane protein"""	614406	"""chromosome 17 open reading frame 87"""	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.242C>T	17.37:g.5118261G>A	ENSP00000461269:p.Pro81Leu					uc002gbf.1_Intron|uc002gbg.1_Intron|C17orf87_uc010clb.1_Missense_Mutation_p.P74L|C17orf87_uc002gbi.2_Missense_Mutation_p.P74L	p.P81L	NM_207103	NP_996986	Q6UWF3	CQ087_HUMAN			4	275	-			81					A6XGL4|B4DLK1|Q96MD0	Missense_Mutation	SNP	ENST00000574081.1	37	c.242C>T	CCDS42242.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948570	0.73787	.	.	ENSG00000161929	ENST00000399600	.	.	.	4.89	4.89	0.63831	.	0.000000	0.56097	D	0.000028	T	0.76435	0.3987	M	0.66939	2.045	0.45272	D	0.998275	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.78316	-0.2251	9	0.87932	D	0	-17.7356	13.7546	0.62928	0.0:0.0:1.0:0.0	.	74;74;81	A6XGL4;Q6UWF3-2;Q6UWF3	.;.;CQ087_HUMAN	L	81	.	ENSP00000382509:P81L	P	-	2	0	C17orf87	5058985	1.000000	0.71417	0.670000	0.29842	0.057000	0.15508	4.007000	0.57093	2.716000	0.92895	0.561000	0.74099	CCG		0.433	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103	
DNAH2	146754	broad.mit.edu	37	17	7722376	7722376	+	Missense_Mutation	SNP	C	C	T	rs202094383		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr17:7722376C>T	ENST00000572933.1	+	71	12270	c.10810C>T	c.(10810-10812)Cgg>Tgg	p.R3604W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3604W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3604					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTTGGCGCGGGAGGTAAG	0.607																																						uc002giu.1																			0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(10810-10812)CGG>TGG		dynein heavy chain domain 3		C	TRP/ARG	0,4406		0,0,2203	45.0	41.0	42.0		10810	4.1	0.6	17		42	3,8595	3.0+/-9.4	0,3,4296	yes	missense	DNAH2	NM_020877.2	101	0,3,6499	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	3604/4428	7722376	3,13001	2203	4299	6502	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7722376C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10810C>T	17.37:g.7722376C>T	ENSP00000458355:p.Arg3604Trp					DNAH2_uc010cnm.1_Missense_Mutation_p.R542W	p.R3604W	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			70	10824	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	3604					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.10810C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643763	0.67244	0.0	3.49E-4	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.54866	0.55	4.07	4.07	0.47477	.	0.168746	0.37219	N	0.002199	D	0.84042	0.5385	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	D	0.90495	0.4470	10	0.87932	D	0	.	13.3004	0.60321	0.0:1.0:0.0:0.0	.	3565;3604	Q9P225-2;Q9P225	.;DYH2_HUMAN	W	3565;3604	ENSP00000373825:R3604W	ENSP00000353818:R3565W	R	+	1	2	DNAH2	7663101	0.999000	0.42202	0.636000	0.29352	0.051000	0.14879	4.097000	0.57741	2.087000	0.62958	0.462000	0.41574	CGG		0.607	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
KRT33A	3883	broad.mit.edu	37	17	39506774	39506774	+	Silent	SNP	C	C	T	rs61736449	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr17:39506774C>T	ENST00000007735.3	-	1	290	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	82	Coil 1A.|Rod.			A -> T (in Ref. 3; BAG36784). {ECO:0000305}.		extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TCTCCAGCTCCGCGTTGTCCC	0.602													c|||	10	0.00199681	0.0068	0.0014	5008	,	,		18114	0.0		0.0	False		,,,				2504	0.0					uc002hwk.1																			0					0						c.(244-246)GCG>GCA		keratin 33A		T		42,4364	44.6+/-78.6	0,42,2161	90.0	83.0	85.0		246	-3.2	1.0	17	dbSNP_129	85	0,8600		0,0,4300	no	coding-synonymous	KRT33A	NM_004138.2		0,42,6461	TT,TC,CC		0.0,0.9532,0.3229		82/405	39506774	42,12964	2203	4300	6503	SO:0001819	synonymous_variant	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39506774C>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.246G>A	17.37:g.39506774C>T							p.A82A	NM_004138	NP_004129	O76009	KT33A_HUMAN			1	283	-		Breast(137;0.000496)	82	A -> T (in Ref. 3; BAG36784).		Coil 1A.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Silent	SNP	ENST00000007735.3	37	c.246G>A	CCDS11388.1																																																																																				0.602	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138	
ZNF516	9658	broad.mit.edu	37	18	74153649	74153649	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr18:74153649G>A	ENST00000443185.2	-	3	1679	c.1362C>T	c.(1360-1362)cgC>cgT	p.R454R	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGACGTACTCGCGCCTGTCCT	0.731																																						uc010dqx.1																			0				ovary(1)	1						c.(1360-1362)CGC>CGT		zinc finger protein 516							4.0	5.0	5.0					18																	74153649		2007	4055	6062	SO:0001819	synonymous_variant	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153649G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1362C>T	18.37:g.74153649G>A						ZNF516_uc002lme.2_RNA	p.R454R	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	2	1597	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	454						Silent	SNP	ENST00000443185.2	37	c.1362C>T																																																																																					0.731	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
GRIN3B	116444	broad.mit.edu	37	19	1005285	1005285	+	Silent	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:1005285C>T	ENST00000234389.3	+	3	1804	c.1785C>T	c.(1783-1785)taC>taT	p.Y595Y	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	595					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCACCGTGTACGAGTGGCGTA	0.652																																						uc002lqo.1																			0					0						c.(1783-1785)TAC>TAT		glutamate receptor, ionotropic,	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						81.0	71.0	75.0					19																	1005285		2203	4300	6503	SO:0001819	synonymous_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005285C>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1785C>T	19.37:g.1005285C>T							p.Y595Y	NM_138690	NP_619635	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1785	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	595			Cytoplasmic (Potential).		Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	c.1785C>T	CCDS32861.1																																																																																				0.652	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2		
DENND1C	79958	broad.mit.edu	37	19	6472910	6472910	+	Missense_Mutation	SNP	A	A	C			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:6472910A>C	ENST00000381480.2	-	15	1260	c.1148T>G	c.(1147-1149)cTg>cGg	p.L383R	DENND1C_ENST00000543576.1_Missense_Mutation_p.L339R	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	383	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CTGTTTGAACAGCTGCAGGTG	0.627																																						uc002mfe.2																			0				large_intestine(1)	1						c.(1147-1149)CTG>CGG		DENN/MADD domain containing 1C							19.0	22.0	21.0					19																	6472910		1940	4151	6091	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6472910A>C	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1148T>G	19.37:g.6472910A>C	ENSP00000370889:p.Leu383Arg					DENND1C_uc002mfb.2_5'UTR|DENND1C_uc002mfc.2_5'UTR|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Missense_Mutation_p.L339R	p.L383R	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			15	1240	-			383			dDENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.1148T>G	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	a	16.50	3.141321	0.57044	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.47869	0.83;0.83	4.9	4.9	0.64082	dDENN (3);	0.317190	0.30101	N	0.010411	T	0.62600	0.2441	M	0.65975	2.015	0.33497	D	0.58938	P	0.52842	0.956	P	0.62649	0.905	T	0.74982	-0.3478	10	0.87932	D	0	-12.1304	10.8842	0.46957	1.0:0.0:0.0:0.0	.	383	Q8IV53	DEN1C_HUMAN	R	383;339	ENSP00000370889:L383R;ENSP00000437805:L339R	ENSP00000370889:L383R	L	-	2	0	DENND1C	6423910	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	4.662000	0.61525	1.849000	0.53698	0.375000	0.23000	CTG		0.627	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898	
CD209	30835	broad.mit.edu	37	19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	rs139712001		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:7809880C>T	ENST00000315599.7	-	5	869	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_ENST00000601951.1_Missense_Mutation_p.A259T|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.A283T|CD209_ENST00000593660.1_Missense_Mutation_p.A213T|CD209_ENST00000601256.1_Missense_Mutation_p.A259T|CD209_ENST00000315591.8_Missense_Mutation_p.A259T|CD209_ENST00000204801.8_Missense_Mutation_p.A239T|CD209_ENST00000602261.1_Missense_Mutation_p.A191T|CD209_ENST00000593821.1_Missense_Mutation_p.A147T|CD209_ENST00000394173.4_Missense_Mutation_p.A122T|CD209_ENST00000301357.8_Missense_Mutation_p.A147T	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	
ZNF761	388561	broad.mit.edu	37	19	53959098	53959098	+	RNA	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:53959098C>T	ENST00000454407.1	+	0	1790							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGTGGAAAGACCTTTAGCCGG	0.383																																						uc010eqp.2																			0				ovary(1)	1						c.(1336-1338)ACC>ATC		zinc finger protein 761							113.0	120.0	118.0					19																	53959098		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959098C>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959098C>T						ZNF761_uc010ydy.1_Missense_Mutation_p.T392I|ZNF761_uc002qbt.1_Missense_Mutation_p.T392I	p.T446I	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1795	+			446			C2H2-type 9.		Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.1337C>T																																																																																					0.383	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401	
XDH	7498	broad.mit.edu	37	2	31571198	31571198	+	Missense_Mutation	SNP	C	C	T	rs571418792		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr2:31571198C>T	ENST00000379416.3	-	28	3131	c.3083G>A	c.(3082-3084)gGc>gAc	p.G1028D		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1028					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	CAGCACAGAGCCATCTGTGTA	0.517																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			0				skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(3082-3084)GGC>GAC		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						71.0	65.0	67.0					2																	31571198		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31571198C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3083G>A	2.37:g.31571198C>T	ENSP00000368727:p.Gly1028Asp						p.G1028D	NM_000379	NP_000370	P47989	XDH_HUMAN			28	3162	-	Acute lymphoblastic leukemia(172;0.155)		1028					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3083G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286969	0.95517	.	.	ENSG00000158125	ENST00000379416	D	0.83591	-1.74	5.85	5.85	0.93711	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	D	0.94456	0.8216	H	0.96430	3.82	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.95523	0.8596	10	0.87932	D	0	.	19.7753	0.96389	0.0:1.0:0.0:0.0	.	1028	P47989	XDH_HUMAN	D	1028	ENSP00000368727:G1028D	ENSP00000368727:G1028D	G	-	2	0	XDH	31424702	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.786000	0.85741	2.753000	0.94483	0.655000	0.94253	GGC		0.517	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
SERTAD2	9792	broad.mit.edu	37	2	64863694	64863694	+	Silent	SNP	C	C	T	rs201985620		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr2:64863694C>T	ENST00000313349.3	-	2	609	c.312G>A	c.(310-312)ccG>ccA	p.P104P	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	104					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TGAAGGCCGGCGGGGCCTCTC	0.697																																						uc002sde.1																			0					0						c.(310-312)CCG>CCA		SERTA domain containing 2							31.0	34.0	33.0					2																	64863694		2202	4300	6502	SO:0001819	synonymous_variant	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863694C>T	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.312G>A	2.37:g.64863694C>T							p.P104P	NM_014755	NP_055570	Q14140	SRTD2_HUMAN			2	609	-			104					Q53TS2	Silent	SNP	ENST00000313349.3	37	c.312G>A	CCDS33210.1																																																																																				0.697	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755	
TTN	7273	broad.mit.edu	37	2	179474028	179474028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr2:179474028G>A	ENST00000591111.1	-	223	47310	c.47086C>T	c.(47086-47088)Cga>Tga	p.R15696*	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R8464*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14769*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R8272*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R17337*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R8397*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15696	Ig-like 98.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R14769*(2)|p.R8272*(1)|p.R8464*(1)|p.R8397*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGAATCTCGGACGCGTAGC	0.453																																						uc010zfg.1																			5	Substitution - Nonsense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(44305-44307)CGA>TGA		titin isoform N2-A							107.0	105.0	105.0					2																	179474028		1929	4130	6059	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474028G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47086C>T	2.37:g.179474028G>A	ENSP00000465570:p.Arg15696*					uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R8464*|TTN_uc010zfi.1_Nonsense_Mutation_p.R8397*|TTN_uc010zfj.1_Nonsense_Mutation_p.R8272*	p.R14769*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		222	44529	-			15696					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.44305C>T		.	.	.	.	.	.	.	.	.	.	G	60	40.950042	0.99985	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4442	0.67338	0.0:0.0:0.8527:0.1473	.	.	.	.	X	14769;8272;8464;8397;8272	.	ENSP00000340554:R8464X	R	-	1	2	TTN	179182273	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.644000	0.46613	2.621000	0.88768	0.558000	0.71614	CGA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CEP250	11190	broad.mit.edu	37	20	34092288	34092288	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr20:34092288C>G	ENST00000397527.1	+	30	6811	c.6091C>G	c.(6091-6093)Ctc>Gtc	p.L2031V	CEP250_ENST00000342580.4_Missense_Mutation_p.L1975V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2031	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGACCAGGATCTCCGATACCA	0.597																																						uc002xcm.2																			0				ovary(4)|central_nervous_system(1)	5						c.(6091-6093)CTC>GTC		centrosomal protein 2							31.0	32.0	32.0					20																	34092288		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34092288C>G	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.6091C>G	20.37:g.34092288C>G	ENSP00000380661:p.Leu2031Val					CEP250_uc010zve.1_Missense_Mutation_p.L1399V	p.L2031V	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		31	6762	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2031			Gln/Glu-rich.|Potential.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.6091C>G	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	7.436	0.639789	0.14386	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.52057	2.73;2.69;0.68	4.91	2.94	0.34122	.	0.000000	0.49916	D	0.000124	T	0.58935	0.2157	L	0.49126	1.545	0.25637	N	0.986244	D	0.71674	0.998	D	0.83275	0.996	T	0.48479	-0.9032	10	0.41790	T	0.15	.	11.2962	0.49280	0.0:0.8463:0.0:0.1537	.	2031	Q9BV73	CP250_HUMAN	V	2031;1975;519	ENSP00000380661:L2031V;ENSP00000341541:L1975V;ENSP00000395992:L519V	ENSP00000341541:L1975V	L	+	1	0	CEP250	33555702	0.002000	0.14202	0.845000	0.33349	0.157000	0.22087	0.674000	0.25218	1.301000	0.44836	-0.136000	0.14681	CTC		0.597	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	
SUSD2	56241	broad.mit.edu	37	22	24579586	24579586	+	Silent	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:24579586C>T	ENST00000358321.3	+	3	672	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	137					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACGGCCACTCCTTCCCTCGTG	0.642																																						uc002zzn.1																			0				skin(1)	1						c.(409-411)TCC>TCT		sushi domain containing 2 precursor							87.0	75.0	79.0					22																	24579586		2202	4300	6502	SO:0001819	synonymous_variant	56241				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	g.chr22:24579586C>T	AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.411C>T	22.37:g.24579586C>T							p.S137S	NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN			3	455	+			137			Extracellular (Potential).		Q9H5Y6	Silent	SNP	ENST00000358321.3	37	c.411C>T	CCDS13824.1																																																																																				0.642	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1	NM_019601	
CCDC157	550631	broad.mit.edu	37	22	30766543	30766543	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:30766543G>A	ENST00000405659.1	+	5	1358	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	CCDC157_ENST00000338306.3_Missense_Mutation_p.A217T			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	217										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CATTGAGACGGCCCTGGTGCC	0.622																																						uc011aku.1																			0				central_nervous_system(1)	1						c.(649-651)GCC>ACC		coiled-coil domain containing 157							91.0	79.0	83.0					22																	30766543		2203	4300	6503	SO:0001583	missense	550631							g.chr22:30766543G>A	BC018040	CCDS33632.2	22q12.2	2009-03-05			ENSG00000187860	ENSG00000187860			33854	protein-coding gene	gene with protein product							Standard	NM_001017437		Approved		uc011aku.2	Q569K6	OTTHUMG00000151007	ENST00000405659.1:c.649G>A	22.37:g.30766543G>A	ENSP00000385357:p.Ala217Thr					CCDC157_uc011akv.1_Missense_Mutation_p.A217T	p.A217T	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN			5	1309	+			217					Q0VD76|Q9BYA4	Missense_Mutation	SNP	ENST00000405659.1	37	c.649G>A	CCDS33632.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490515	0.84962	.	.	ENSG00000187860	ENST00000405659;ENST00000338306	T;T	0.26957	1.7;1.7	5.54	5.54	0.83059	.	0.133261	0.51477	D	0.000093	T	0.42653	0.1212	M	0.61703	1.905	0.39421	D	0.966925	D	0.63880	0.993	D	0.63033	0.91	T	0.31024	-0.9958	10	0.56958	D	0.05	-29.1128	9.6869	0.40105	0.0:0.1916:0.6746:0.1338	.	217	Q569K6	CC157_HUMAN	T	217	ENSP00000385357:A217T;ENSP00000343087:A217T	ENSP00000343087:A217T	A	+	1	0	CCDC157	29096543	0.643000	0.27269	0.950000	0.38849	0.887000	0.51463	1.298000	0.33412	2.884000	0.98904	0.655000	0.94253	GCC		0.622	CCDC157-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320936.1	NM_001017437	
GAL3ST1	9514	broad.mit.edu	37	22	30951178	30951178	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:30951178C>T	ENST00000402321.1	-	3	1351	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.C345Y|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.C345Y|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.C345Y|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.C345Y|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.C345Y|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.C345Y			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	345					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCCGTCGATGCAGATGGTCCG	0.711																																						uc003aig.1																			0					0						c.(1033-1035)TGC>TAC		galactose-3-O-sulfotransferase 1							23.0	24.0	23.0					22																	30951178		2200	4293	6493	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951178C>T	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.1034G>A	22.37:g.30951178C>T	ENSP00000385735:p.Cys345Tyr					GAL3ST1_uc003aih.1_Missense_Mutation_p.C345Y|GAL3ST1_uc003aii.1_Missense_Mutation_p.C345Y|GAL3ST1_uc010gvz.1_Missense_Mutation_p.C345Y	p.C345Y	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	1174	-			345			Lumenal (Potential).		Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.1034G>A	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667730	0.88348	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	H	0.95260	3.645	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79463	-0.1793	10	0.87932	D	0	-74.1708	19.0729	0.93147	0.0:1.0:0.0:0.0	.	345	Q99999	G3ST1_HUMAN	Y	345	ENSP00000385825:C345Y;ENSP00000385735:C345Y;ENSP00000384122:C345Y;ENSP00000384388:C345Y;ENSP00000343234:C345Y;ENSP00000385207:C345Y;ENSP00000402587:C345Y	ENSP00000343234:C345Y	C	-	2	0	GAL3ST1	29281178	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.525000	0.81892	2.615000	0.88500	0.561000	0.74099	TGC		0.711	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861	
MFNG	4242	broad.mit.edu	37	22	37882098	37882098	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:37882098C>T	ENST00000356998.3	-	1	341	c.118G>A	c.(118-120)Gag>Aag	p.E40K	MFNG_ENST00000416983.3_Missense_Mutation_p.E40K	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	40					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					TGGCTCAGCTCGGGGGTCCCT	0.657																																						uc003ass.1																			0				lung(1)	1						c.(118-120)GAG>AAG		O-fucosylpeptide							30.0	34.0	33.0					22																	37882098		2203	4300	6503	SO:0001583	missense	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37882098C>T	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.118G>A	22.37:g.37882098C>T	ENSP00000349490:p.Glu40Lys					MFNG_uc011ani.1_5'UTR|MFNG_uc011anj.1_Missense_Mutation_p.E40K|CARD10_uc003ast.1_Intron	p.E40K	NM_002405	NP_002396	O00587	MFNG_HUMAN			1	288	-	Melanoma(58;0.0574)		40			Lumenal (Potential).		B4DLT6|O43730|Q504S9	Missense_Mutation	SNP	ENST00000356998.3	37	c.118G>A	CCDS13947.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.275118	0.40194	.	.	ENSG00000100060	ENST00000416983;ENST00000356998;ENST00000424765	T;T	0.54479	0.58;0.57	4.31	0.54	0.17163	.	1.386070	0.04777	N	0.429122	T	0.36744	0.0978	L	0.50333	1.59	0.09310	N	1	B;P	0.36144	0.313;0.539	B;B	0.19391	0.017;0.025	T	0.10917	-1.0609	10	0.08837	T	0.75	-0.0833	5.4562	0.16592	0.0:0.6344:0.1629:0.2027	.	40;40	B4DLT6;O00587	.;MFNG_HUMAN	K	40	ENSP00000413855:E40K;ENSP00000349490:E40K	ENSP00000349490:E40K	E	-	1	0	MFNG	36212044	0.000000	0.05858	0.001000	0.08648	0.277000	0.26821	0.228000	0.17814	-0.122000	0.11766	0.298000	0.19748	GAG		0.657	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405	
DCHS2	54798	broad.mit.edu	37	4	155243612	155243612	+	Silent	SNP	G	G	A	rs142864637	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr4:155243612G>A	ENST00000357232.4	-	13	2681	c.2682C>T	c.(2680-2682)gaC>gaT	p.D894D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	894	Cadherin 7. {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)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CATTGTTGGCGTCAATCTTAA	0.358													G|||	22	0.00439297	0.0144	0.0043	5008	,	,		19960	0.0		0.0	False		,,,				2504	0.0					uc003inw.2																			0				ovary(3)|pancreas(1)	4						c.(2680-2682)GAC>GAT		dachsous 2 isoform 1		G		46,4360	48.9+/-83.8	0,46,2157	144.0	121.0	129.0		2682	0.5	1.0	4	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DCHS2	NM_017639.3		0,47,6456	AA,AG,GG		0.0116,1.044,0.3614		894/2917	155243612	47,12959	2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155243612G>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2682C>T	4.37:g.155243612G>A							p.D894D	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	13	2682	-	all_hematologic(180;0.208)	Renal(120;0.0854)	894			Cadherin 7.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.2682C>T	CCDS3785.1																																																																																				0.358	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
ZFP42	132625	broad.mit.edu	37	4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A	rs200711766	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr4:188924640G>A	ENST00000326866.4	+	4	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_ENST00000509524.1_Missense_Mutation_p.V227I	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	227					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18767	0.0		0.001	False		,,,				2504	0.0					uc003izg.1																			0				ovary(1)|skin(1)	2						c.(679-681)GTT>ATT		zinc finger protein 42							118.0	123.0	122.0					4																	188924640		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924640G>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.679G>A	4.37:g.188924640G>A	ENSP00000317686:p.Val227Ile					ZFP42_uc003izh.1_Missense_Mutation_p.V227I|ZFP42_uc003izi.1_Missense_Mutation_p.V227I	p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	924	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	227			C2H2-type 2.		D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.679G>A	CCDS3849.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.42	1.345682	0.24426	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.41400	1.0;1.0	4.39	-8.78	0.00824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.214960	0.06385	N	0.715986	T	0.16171	0.0389	N	0.16478	0.41	0.09310	N	1	B	0.27316	0.175	B	0.14023	0.01	T	0.08953	-1.0697	10	0.17832	T	0.49	.	1.3926	0.02253	0.1903:0.3391:0.2374:0.2333	.	227	Q96MM3	ZFP42_HUMAN	I	227	ENSP00000317686:V227I;ENSP00000424662:V227I	ENSP00000317686:V227I	V	+	1	0	ZFP42	189161634	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.295000	0.19065	-3.355000	0.00180	-0.892000	0.02923	GTT		0.502	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900	
PCDHB12	56124	broad.mit.edu	37	5	140590123	140590123	+	Silent	SNP	C	C	T	rs147374257	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr5:140590123C>T	ENST00000239450.2	+	1	1833	c.1644C>T	c.(1642-1644)cgC>cgT	p.R548R	PCDHB12_ENST00000541609.1_Silent_p.R211R	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGTGCGCGTGCTGGTGC	0.711																																						uc003liz.2																			0				skin(2)|ovary(1)	3						c.(1642-1644)CGC>CGT		protocadherin beta 12 precursor							29.0	34.0	32.0					5																	140590123		2199	4296	6495	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590123C>T	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1644C>T	5.37:g.140590123C>T						PCDHB12_uc011dak.1_Silent_p.R211R	p.R548R	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1833	+			548			Extracellular (Potential).|Cadherin 5.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1644C>T	CCDS4254.1																																																																																				0.711	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
GABRA6	2559	broad.mit.edu	37	5	161113339	161113339	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr5:161113339C>T	ENST00000274545.5	+	2	575	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000523217.1_Missense_Mutation_p.R48W|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	48					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CAATCGGCTGCGGCCGGGATT	0.483										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(142-144)CGG>TGG		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						98.0	104.0	102.0					5																	161113339		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161113339C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.142C>T	5.37:g.161113339C>T	ENSP00000274545:p.Arg48Trp	TCGA Ovarian(5;0.080)					p.R48W	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	480	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	48			Extracellular (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.142C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842241	0.71488	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.83591	-1.74;-1.74	5.63	3.82	0.43975	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93916	0.8053	H	0.96748	3.875	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.95183	0.8301	10	0.87932	D	0	.	14.832	0.70156	0.276:0.724:0.0:0.0	.	48	Q16445	GBRA6_HUMAN	W	48	ENSP00000274545:R48W;ENSP00000430527:R48W	ENSP00000274545:R48W	R	+	1	2	GABRA6	161045917	0.893000	0.30496	0.907000	0.35723	0.666000	0.39218	1.769000	0.38522	0.695000	0.31675	0.655000	0.94253	CGG		0.483	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
MICALL2	79778	broad.mit.edu	37	7	1485031	1485031	+	Silent	SNP	C	C	T	rs200801518		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:1485031C>T	ENST00000297508.7	-	6	850	c.675G>A	c.(673-675)ggG>ggA	p.G225G	MICALL2_ENST00000405088.4_Intron	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	225	Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.|LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTTGTAGGCCCCCGAGTGCA	0.692																																						uc003skj.3																			0				central_nervous_system(1)	1						c.(673-675)GGG>GGA		MICAL-like 2 isoform 1							10.0	7.0	8.0					7																	1485031		2031	4068	6099	SO:0001819	synonymous_variant	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1485031C>T	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.675G>A	7.37:g.1485031C>T						MICALL2_uc003ski.3_5'Flank	p.G225G	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	6	822	-		Ovarian(82;0.0253)	225			LIM zinc-binding.		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	ENST00000297508.7	37	c.675G>A	CCDS5324.1																																																																																				0.692	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924	
CARD11	84433	broad.mit.edu	37	7	2984147	2984147	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:2984147G>C	ENST00000396946.4	-	5	786	c.383C>G	c.(382-384)aCg>aGg	p.T128R	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	128					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.T121M(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGGAAGTGCGTGAGGCCCTC	0.622			Mis		DLBCL																																	uc003smv.2				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		3	Substitution - Missense(3)	p.T121M(2)	haematopoietic_and_lymphoid_tissue(3)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(382-384)ACG>AGG		caspase recruitment domain family, member 11							62.0	58.0	59.0					7																	2984147		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2984147G>C	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.383C>G	7.37:g.2984147G>C	ENSP00000380150:p.Thr128Arg						p.T128R	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	787	-		Ovarian(82;0.0115)	128					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.383C>G	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730357	0.69074	.	.	ENSG00000198286	ENST00000396946	T	0.45276	0.9	4.24	4.24	0.50183	.	0.052459	0.85682	D	0.000000	T	0.60702	0.2289	M	0.67397	2.05	0.50632	D	0.999882	D	0.65815	0.995	P	0.62014	0.897	T	0.67067	-0.5764	10	0.72032	D	0.01	-28.2955	17.0013	0.86382	0.0:0.0:1.0:0.0	.	128	Q9BXL7	CAR11_HUMAN	R	128	ENSP00000380150:T128R	ENSP00000380150:T128R	T	-	2	0	CARD11	2950673	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.343000	0.79319	2.071000	0.62044	0.655000	0.94253	ACG		0.622	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		15	Substitution - Missense(15)	p.G598V(16)	central_nervous_system(15)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(1792-1794)GGA>GTA		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PIK3CG	5294	broad.mit.edu	37	7	106508432	106508432	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:106508432G>A	ENST00000359195.3	+	2	736	c.426G>A	c.(424-426)ccG>ccA	p.P142P	PIK3CG_ENST00000496166.1_Silent_p.P142P|PIK3CG_ENST00000440650.2_Silent_p.P142P	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	142					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCGGCACCCGCCCTCCGAGG	0.637																																						uc003vdv.3																			0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(424-426)CCG>CCA		phosphoinositide-3-kinase, catalytic, gamma							16.0	19.0	18.0					7																	106508432		2200	4286	6486	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508432G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.426G>A	7.37:g.106508432G>A						PIK3CG_uc003vdu.2_Silent_p.P142P|PIK3CG_uc003vdw.2_Silent_p.P142P	p.P142P	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	511	+			142					A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.426G>A	CCDS5739.1																																																																																				0.637	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
ADAM2	2515	broad.mit.edu	37	8	39613418	39613418	+	Silent	SNP	G	G	A	rs201864039	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr8:39613418G>A	ENST00000265708.4	-	16	1729	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	ADAM2_ENST00000347580.4_Silent_p.C523C|AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	542	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTAATTTTCCGCACTGCAGAT	0.249													.|||	4	0.000798722	0.0023	0.0	5008	,	,		13531	0.001		0.0	False		,,,				2504	0.0					uc003xnj.2																			0				ovary(1)|lung(1)	2						c.(1624-1626)TGC>TGT		ADAM metallopeptidase domain 2 proprotein							41.0	46.0	44.0					8																	39613418		2200	4298	6498	SO:0001819	synonymous_variant	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39613418G>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1626C>T	8.37:g.39613418G>A						ADAM2_uc003xnk.2_Silent_p.C523C|ADAM2_uc011lck.1_Intron|ADAM2_uc003xnl.2_Intron	p.C542C	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	16	1701	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	542			Extracellular (Potential).|Cys-rich.		P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	c.1626C>T	CCDS34884.1																																																																																				0.249	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
LMX1B	4010	broad.mit.edu	37	9	129453336	129453336	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr9:129453336A>G	ENST00000373474.4	+	3	555	c.548A>G	c.(547-549)gAg>gGg	p.E183G	LMX1B_ENST00000425646.2_Missense_Mutation_p.E160G|LMX1B_ENST00000561065.1_Missense_Mutation_p.E160G|LMX1B_ENST00000355497.5_Missense_Mutation_p.E183G|LMX1B_ENST00000526117.1_Missense_Mutation_p.E183G			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	183					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGCCCCGACGAGTCCGACTCC	0.667									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	uc004bqj.2																			0					0						c.(478-480)GAG>GGG		LIM homeobox transcription factor 1, beta							44.0	35.0	38.0					9																	129453336		2201	4300	6501	SO:0001583	missense	4010	Nail-Patella_Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129453336A>G	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.548A>G	9.37:g.129453336A>G	ENSP00000362573:p.Glu183Gly					LMX1B_uc004bqi.2_Missense_Mutation_p.E160G|LMX1B_uc011maa.1_Missense_Mutation_p.E160G	p.E160G	NM_002316	NP_002307	O60663	LMX1B_HUMAN			3	529	+			160					F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.479A>G	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.139543	0.37728	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;D;T	0.86769	-1.19;-1.19;-2.17;-1.19	4.91	4.91	0.64330	.	0.049431	0.85682	D	0.000000	T	0.72795	0.3505	N	0.08118	0	0.44048	D	0.996789	B;B;B	0.15719	0.0;0.002;0.014	B;B;B	0.17979	0.002;0.005;0.02	T	0.67488	-0.5658	10	0.08381	T	0.77	.	13.7103	0.62665	1.0:0.0:0.0:0.0	.	160;160;183	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	G	183;183;183;160	ENSP00000436930:E183G;ENSP00000362573:E183G;ENSP00000347684:E183G;ENSP00000390923:E160G	ENSP00000347684:E183G	E	+	2	0	LMX1B	128493157	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.374000	0.66167	1.819000	0.53055	0.402000	0.26972	GAG		0.667	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2		
GYG2	8908	broad.mit.edu	37	X	2799104	2799104	+	Silent	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:2799104C>T	ENST00000381163.3	+	12	1638	c.1356C>T	c.(1354-1356)gcC>gcT	p.A452A	GYG2_ENST00000398806.3_Silent_p.A421A|GYG2_ENST00000338623.5_Silent_p.A416A|GYG2_ENST00000542787.1_Silent_p.A381A|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	452					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCGACCTGGCCGTCTCTGTTT	0.542																																						uc004cqs.1																			0				ovary(1)|kidney(1)	2						c.(1354-1356)GCC>GCT		glycogenin 2 isoform b							108.0	80.0	90.0					X																	2799104		2203	4298	6501	SO:0001819	synonymous_variant	8908				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	g.chrX:2799104C>T	U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1356C>T	X.37:g.2799104C>T						GYG2_uc004cqt.1_Silent_p.A421A|GYG2_uc004cqu.1_Silent_p.A420A|GYG2_uc004cqv.1_Silent_p.A195A|GYG2_uc004cqw.1_Silent_p.A412A|GYG2_uc004cqx.1_Silent_p.A350A|GYG2_uc010ndc.1_Silent_p.A230A	p.A452A	NM_003918	NP_003909	O15488	GLYG2_HUMAN			12	1638	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	452					B7WNN6|O15485|O15486|O15487|O15489|O15490	Silent	SNP	ENST00000381163.3	37	c.1356C>T	CCDS14121.1	.	.	.	.	.	.	.	.	.	.	C	0.054	-1.241298	0.01493	.	.	ENSG00000056998	ENST00000381157	.	.	.	4.03	1.11	0.20524	.	.	.	.	.	T	0.30696	0.0773	.	.	.	0.20074	N	0.999939	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	.	5.8136	0.18479	0.0:0.5162:0.3705:0.1133	.	.	.	.	C	235	.	.	R	+	1	0	GYG2	2809104	0.062000	0.20869	0.007000	0.13788	0.020000	0.10135	-0.030000	0.12308	-0.171000	0.10797	-0.223000	0.12442	CGT		0.542	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918	
ASB9	140462	broad.mit.edu	37	X	15266989	15266989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:15266989C>A	ENST00000380488.4	-	6	910	c.637G>T	c.(637-639)Gag>Tag	p.E213*	ASB9_ENST00000546332.1_Nonsense_Mutation_p.E213*|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Nonsense_Mutation_p.E203*|ASB9_ENST00000380485.3_Nonsense_Mutation_p.E213*	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	213					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CAGGCCAGCTCTTCACTGGCT	0.567																																						uc004cwl.2																			0					0						c.(637-639)GAG>TAG		ankyrin repeat and SOCS box-containing 9 isoform							75.0	63.0	67.0					X																	15266989		2203	4300	6503	SO:0001587	stop_gained	140462				intracellular signal transduction			g.chrX:15266989C>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.637G>T	X.37:g.15266989C>A	ENSP00000369855:p.Glu213*					ASB9_uc004cwk.2_Nonsense_Mutation_p.E213*|ASB9_uc004cwm.2_Nonsense_Mutation_p.E203*|ASB9_uc010ner.2_Nonsense_Mutation_p.E213*|ASB9_uc004cwn.2_Nonsense_Mutation_p.E184*	p.E213*	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN			6	884	-	Hepatocellular(33;0.183)		213			ANK 6.		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Nonsense_Mutation	SNP	ENST00000380488.4	37	c.637G>T	CCDS35208.1	.	.	.	.	.	.	.	.	.	.	C	35	5.507674	0.96386	.	.	ENSG00000102048	ENST00000380483;ENST00000380485;ENST00000380488;ENST00000546332	.	.	.	5.92	5.06	0.68205	.	0.142474	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.2933	13.0831	0.59125	0.0:0.9218:0.0:0.0782	.	.	.	.	X	203;213;213;213	.	ENSP00000369850:E203X	E	-	1	0	ASB9	15176910	1.000000	0.71417	0.069000	0.20011	0.012000	0.07955	6.233000	0.72320	1.248000	0.43934	0.600000	0.82982	GAG		0.567	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1		
APEX2	27301	broad.mit.edu	37	X	55032975	55032975	+	Missense_Mutation	SNP	C	C	T	rs187479006		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:55032975C>T	ENST00000374987.3	+	6	730	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	ALAS2_ENST00000498636.1_5'Flank|APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	222					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GGACCCAGGGCGCAAGTGGAT	0.522								Other BER factors					C|||	2	0.000529801	0.0	0.0	3775	,	,		14908	0.001		0.0	False		,,,				2504	0.001					uc004dtz.2																			0				breast(1)	1						c.(664-666)CGC>TGC	Other_BER_factors	apurinic/apyrimidinic endonuclease 2							32.0	28.0	29.0					X																	55032975		2203	4299	6502	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55032975C>T	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.664C>T	X.37:g.55032975C>T	ENSP00000364126:p.Arg222Cys					APEX2_uc011mom.1_Missense_Mutation_p.R51C	p.R222C	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN			6	740	+			222					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.664C>T	CCDS14365.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.73	2.622497	0.46840	.	.	ENSG00000169188	ENST00000374987	T	0.70282	-0.47	4.53	4.53	0.55603	Endonuclease/exonuclease/phosphatase (2);	0.102725	0.64402	D	0.000005	T	0.81828	0.4905	M	0.92367	3.3	0.80722	D	1	P	0.50710	0.938	P	0.48425	0.577	D	0.86897	0.2052	10	0.56958	D	0.05	-6.2877	15.9128	0.79485	0.0:1.0:0.0:0.0	.	222	Q9UBZ4	APEX2_HUMAN	C	222	ENSP00000364126:R222C	ENSP00000364126:R222C	R	+	1	0	APEX2	55049700	0.999000	0.42202	0.907000	0.35723	0.379000	0.30106	4.525000	0.60559	2.206000	0.71126	0.600000	0.82982	CGC		0.522	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1		
ACRC	93953	broad.mit.edu	37	X	70830605	70830605	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:70830605G>A	ENST00000373695.1	+	10	2223	c.1686G>A	c.(1684-1686)atG>atA	p.M562I	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.M562I			Q96QF7	ACRC_HUMAN	acidic repeat containing	562	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGTGAGATGTGGTACCCAA	0.502																																						uc004eae.2																			0				ovary(3)	3						c.(1684-1686)ATG>ATA		ACRC protein							119.0	83.0	95.0					X																	70830605		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70830605G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1686G>A	X.37:g.70830605G>A	ENSP00000362799:p.Met562Ile					BCYRN1_uc011mpt.1_Intron	p.M562I	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			11	2187	+	Renal(35;0.156)		562					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1686G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	g	7.827	0.718979	0.15372	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.42900	0.96;0.96	5.35	-10.7	0.00240	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.11836	0.0288	N	0.01874	-0.695	0.09310	N	1	B	0.15930	0.015	B	0.23852	0.049	T	0.29181	-1.0020	9	0.36615	T	0.2	.	1.4903	0.02455	0.4517:0.0887:0.2217:0.2379	.	562	Q96QF7	ACRC_HUMAN	I	562	ENSP00000362800:M562I;ENSP00000362799:M562I	ENSP00000362799:M562I	M	+	3	0	ACRC	70747330	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.022000	0.13511	-2.749000	0.00375	-2.873000	0.00099	ATG		0.502	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1		
HCFC1	3054	broad.mit.edu	37	X	153236126	153236126	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:153236126C>G	ENST00000310441.7	-	1	1132	c.166G>C	c.(166-168)Gtg>Ctg	p.V56L	TMEM187_ENST00000369982.4_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.V56L|HCFC1_ENST00000369984.4_Missense_Mutation_p.V56L|HCFC1-AS1_ENST00000438219.1_RNA	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	56					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCGTCCACTATTCCCTCG	0.657																																						uc004fjp.2																			0				ovary(2)	2						c.(166-168)GTG>CTG		host cell factor 1							77.0	81.0	80.0					X																	153236126		2140	4197	6337	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153236126C>G		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.166G>C	X.37:g.153236126C>G	ENSP00000309555:p.Val56Leu					TMEM187_uc004fjq.2_5'Flank	p.V56L	NM_005334	NP_005325	P51610	HCFC1_HUMAN			1	694	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		56			Kelch 1.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.166G>C	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470412	0.84533	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.73789	-0.78;-0.78;-0.78	3.62	3.62	0.41486	.	0.000000	0.64402	D	0.000001	T	0.81626	0.4862	L	0.59436	1.845	0.58432	D	0.999998	P	0.45428	0.858	P	0.60541	0.876	T	0.83301	-0.0028	10	0.59425	D	0.04	.	13.6426	0.62260	0.0:1.0:0.0:0.0	.	56	P51610	HCFC1_HUMAN	L	56	ENSP00000309555:V56L;ENSP00000359001:V56L;ENSP00000346174:V56L	ENSP00000309555:V56L	V	-	1	0	HCFC1	152889320	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.169000	0.64984	1.785000	0.52413	0.436000	0.28706	GTG		0.657	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334	
