#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
KCNQ4	9132	broad.mit.edu	37	1	41289931	41289931	+	Splice_Site	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:41289931G>T	ENST00000347132.5	+	9	1374		c.e9+1		KCNQ4_ENST00000509682.2_Intron|KCNQ4_ENST00000506017.1_Splice_Site	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4						inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	CTGGGGAAAGGTAGGGGCCCC	0.667																																						uc001cgh.1																			0				central_nervous_system(1)	1						c.e9+1		potassium voltage-gated channel KQT-like protein							6.0	9.0	8.0					1																	41289931		2146	4169	6315	SO:0001630	splice_region_variant	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41289931G>T	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.1292+1G>T	1.37:g.41289931G>T						KCNQ4_uc001cgi.1_Intron	p.S431_splice	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		9	1374	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)						O96025	Splice_Site	SNP	ENST00000347132.5	37	c.1292_splice	CCDS456.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879425	0.72294	.	.	ENSG00000117013	ENST00000347132	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9089	0.86135	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNQ4	41062518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.685000	0.74543	2.582000	0.87167	0.591000	0.81541	.		0.667	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700	Intron
ZNHIT6	54680	broad.mit.edu	37	1	86172017	86172017	+	Missense_Mutation	SNP	G	G	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:86172017G>C	ENST00000370574.3	-	3	877	c.744C>G	c.(742-744)caC>caG	p.H248Q	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.H209Q			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	248					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GTTCTGCTTTGTGTTTCTTTA	0.353																																						uc001dlh.2																			0				large_intestine(1)	1						c.(742-744)CAC>CAG		zinc finger, HIT type 6							121.0	110.0	114.0					1																	86172017		2203	4300	6503	SO:0001583	missense	54680				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	g.chr1:86172017G>C	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.744C>G	1.37:g.86172017G>C	ENSP00000359606:p.His248Gln					ZNHIT6_uc010osc.1_Missense_Mutation_p.H209Q	p.H248Q	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN			3	878	-			248			HIT-type.		B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	37	c.744C>G	CCDS707.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406486	0.62399	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.49139	0.79;0.79	5.43	4.51	0.55191	Zinc finger, HIT-type (1);	0.052693	0.85682	D	0.000000	T	0.59197	0.2176	M	0.81802	2.56	0.52099	D	0.999948	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.963	T	0.63804	-0.6554	10	0.87932	D	0	-13.7423	8.0726	0.30697	0.253:0.0:0.747:0.0	.	209;248	B4DP13;Q9NWK9	.;BCD1_HUMAN	Q	209;248	ENSP00000414344:H209Q;ENSP00000359606:H248Q	ENSP00000359606:H248Q	H	-	3	2	ZNHIT6	85944605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.669000	0.37492	2.724000	0.93272	0.650000	0.86243	CAC		0.353	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
GPR61	83873	broad.mit.edu	37	1	110086728	110086728	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:110086728C>A	ENST00000527748.1	+	2	1767	c.1084C>A	c.(1084-1086)Cca>Aca	p.P362T	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	362						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTTCTTCAAGCCAGCTCCAGA	0.557																																						uc001dxy.2																			0				central_nervous_system(2)	2						c.(1084-1086)CCA>ACA		G protein-coupled receptor 61							60.0	65.0	63.0					1																	110086728		2203	4300	6503	SO:0001583	missense	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086728C>A	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.1084C>A	1.37:g.110086728C>A	ENSP00000432456:p.Pro362Thr						p.P362T	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	2	1767	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	362			Cytoplasmic (Potential).		A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	c.1084C>A	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.586797	0.00872	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.37584	1.19	5.2	3.28	0.37604	.	0.495583	0.21255	N	0.077567	T	0.06050	0.0157	N	0.08118	0	0.23351	N	0.99786	B	0.11235	0.004	B	0.06405	0.002	T	0.38329	-0.9666	10	0.20046	T	0.44	-0.1853	9.4887	0.38946	0.2805:0.575:0.1445:0.0	.	362	Q9BZJ8	GPR61_HUMAN	T	362;490	ENSP00000432456:P362T	ENSP00000286603:P490T	P	+	1	0	GPR61	109888251	0.056000	0.20664	0.902000	0.35471	0.963000	0.63663	0.274000	0.18680	0.737000	0.32582	-0.169000	0.13324	CCA		0.557	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1		
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420|rs113617356|rs79268808		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)tgtggtdel	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578																																						uc001fak.2																			0					0						c.(142-147)TGTGGTdel		late cornified envelope 4A																																				SO:0001651	inframe_deletion	199834				keratinization			g.chr1:152681693_152681698delTGTGGT	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.142_147delTGTGGT	1.37:g.152681693_152681698delTGTGGT	ENSP00000357766:p.Cys48_Gly49del						p.CG48del	NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		1	171_176	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		48_49			Cys-rich.		Q14D97	In_Frame_Del	DEL	ENST00000368777.1	37	c.142_147delTGTGGT	CCDS1022.1																																																																																				0.578	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356	
S100A7A	338324	broad.mit.edu	37	1	153391619	153391619	+	Splice_Site	SNP	A	A	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:153391619A>T	ENST00000368729.4	+	3	198		c.e3-1		S100A7A_ENST00000329256.2_Splice_Site|S100A7A_ENST00000368728.2_Splice_Site	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A							cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein self-association (GO:0043621)			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTCTTCACAGGACAAAAAG	0.408																																						uc001fbt.1																			0				skin(1)	1						c.e3-2		S100 calcium binding protein A7-like 1							76.0	71.0	73.0					1																	153391619		2203	4300	6503	SO:0001630	splice_region_variant	338324					cytoplasm	calcium ion binding	g.chr1:153391619A>T	AY189118	CCDS30872.1	1q22	2013-01-10	2006-09-11	2006-09-11	ENSG00000184330	ENSG00000184330		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	21657	protein-coding gene	gene with protein product			"""S100 calcium binding protein A15"", ""S100 calcium binding protein A7-like 1"""	S100A15, S100A7L1		11230159	Standard	NM_176823		Approved	S100A7f	uc001fbt.1	Q86SG5	OTTHUMG00000013122	ENST00000368729.4:c.142-1A>T	1.37:g.153391619A>T							p.D48_splice	NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	199	+	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)							D3DV38|Q5SY69	Splice_Site	SNP	ENST00000368729.4	37	c.142_splice	CCDS30872.1	.	.	.	.	.	.	.	.	.	.	A	6.933	0.541883	0.13250	.	.	ENSG00000184330	ENST00000368729;ENST00000368728;ENST00000329256	.	.	.	1.72	1.72	0.24424	.	.	.	.	.	.	.	.	.	.	.	0.26418	N	0.976144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4906	0.16774	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	S100A7A	151658243	0.865000	0.29922	0.032000	0.17829	0.181000	0.23173	2.396000	0.44468	1.019000	0.39547	0.383000	0.25322	.		0.408	S100A7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036786.2	NM_176823	Intron
OLFML2B	25903	broad.mit.edu	37	1	161967994	161967994	+	Silent	SNP	G	G	A	rs34123330	byFrequency	TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:161967994G>A	ENST00000294794.3	-	6	1518	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	OLFML2B_ENST00000367940.2_Silent_p.N366N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	365					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.N365N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGTCCGAGCGTTCAGGTCGC	0.612													G|||	14	0.00279553	0.0106	0.0	5008	,	,		18931	0.0		0.0	False		,,,				2504	0.0					uc001gbu.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(1093-1095)AAC>AAT		olfactomedin-like 2B precursor		G		28,4378	34.3+/-65.2	0,28,2175	142.0	144.0	143.0		1095	-2.0	0.0	1	dbSNP_126	143	0,8600		0,0,4300	no	coding-synonymous	OLFML2B	NM_015441.1		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		365/751	161967994	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161967994G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1095C>T	1.37:g.161967994G>A						OLFML2B_uc010pkq.1_Silent_p.N366N	p.N365N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1519	-	all_hematologic(112;0.156)		365					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1095C>T	CCDS1236.1																																																																																				0.612	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
CEP350	9857	broad.mit.edu	37	1	180053197	180053197	+	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:180053197C>G	ENST00000367607.3	+	31	6587	c.6169C>G	c.(6169-6171)Ctg>Gtg	p.L2057V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2057					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATCAGAGCTCTGAAGGATGA	0.358																																						uc001gnt.2																			0				ovary(4)	4						c.(6169-6171)CTG>GTG		centrosome-associated protein 350							56.0	54.0	55.0					1																	180053197		2203	4299	6502	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180053197C>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6169C>G	1.37:g.180053197C>G	ENSP00000356579:p.Leu2057Val					CEP350_uc009wxl.2_Missense_Mutation_p.L2056V|CEP350_uc001gnv.2_Missense_Mutation_p.L192V|CEP350_uc001gnw.1_5'Flank	p.L2057V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			31	6552	+			2057			Potential.		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.6169C>G	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.559048|4.559048	0.86335|0.86335	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607;ENST00000437245|ENST00000429851	T;T|.	0.60920|.	0.15;0.15|.	5.39|5.39	4.47|4.47	0.54385|0.54385	.|.	0.000000|.	0.35407|.	N|.	0.003225|.	T|T	0.75221|0.75221	0.3820|0.3820	M|M	0.79926|0.79926	2.475|2.475	0.48762|0.48762	D|D	0.999705|0.999705	D;D|.	0.76494|.	0.996;0.999|.	P;D|.	0.65773|.	0.675;0.938|.	T|T	0.76639|0.76639	-0.2885|-0.2885	9|5	.|.	.|.	.|.	.|.	13.5086|13.5086	0.61497|0.61497	0.0:0.925:0.0:0.075|0.0:0.925:0.0:0.075	.|.	2057;2057|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	V|C	2057;64|231	ENSP00000356579:L2057V;ENSP00000409395:L64V|.	.|.	L|S	+|+	1|2	2|0	CEP350|CEP350	178319820|178319820	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.506000|2.506000	0.45433|0.45433	2.520000|2.520000	0.84964|0.84964	0.555000|0.555000	0.69702|0.69702	CTG|TCT		0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
DSTYK	25778	broad.mit.edu	37	1	205138447	205138447	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:205138447G>A	ENST00000367162.3	-	3	1198	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	DSTYK_ENST00000367160.4_Missense_Mutation_p.R390C|DSTYK_ENST00000367161.3_Missense_Mutation_p.R390C	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	390					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TATTCCAGACGTTTGGGAGTG	0.458																																						uc001hbw.2																			0				lung(1)	1						c.(1168-1170)CGT>TGT		receptor interacting protein kinase 5 isoform 1							114.0	102.0	106.0					1																	205138447		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205138447G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1168C>T	1.37:g.205138447G>A	ENSP00000356130:p.Arg390Cys					DSTYK_uc001hbx.2_Missense_Mutation_p.R390C|DSTYK_uc001hby.1_Intron	p.R390C	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			3	1232	-			390					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.1168C>T	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943915	0.73672	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;D;D	0.81996	-1.21;-1.52;-1.56	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91280	0.5051	10	0.87932	D	0	-14.3958	15.3097	0.74023	0.0:0.0:0.8595:0.1405	.	390;390	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	C	390	ENSP00000356128:R390C;ENSP00000356129:R390C;ENSP00000356130:R390C	ENSP00000356128:R390C	R	-	1	0	DSTYK	203405070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.789000	0.38724	2.663000	0.90544	0.655000	0.94253	CGT		0.458	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375	
USH2A	7399	broad.mit.edu	37	1	216138718	216138718	+	Missense_Mutation	SNP	C	C	T	rs201386640		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:216138718C>T	ENST00000307340.3	-	37	7447	c.7061G>A	c.(7060-7062)cGc>cAc	p.R2354H	USH2A_ENST00000366943.2_Missense_Mutation_p.R2354H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2354	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> H (in USH2A). {ECO:0000269|PubMed:17085681}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R2354H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATTAGGGCGAAAAGGTGC	0.403										HNSCC(13;0.011)			C|||	1	0.000199681	0.0	0.0	5008	,	,		16044	0.0		0.001	False		,,,				2504	0.0					uc001hku.1																			1	Substitution - Missense(1)		large_intestine(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26	GRCh37	CM065510	USH2A	M		c.(7060-7062)CGC>CAC		usherin isoform B							151.0	149.0	150.0					1																	216138718		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216138718C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.7061G>A	1.37:g.216138718C>T	ENSP00000305941:p.Arg2354His	HNSCC(13;0.011)					p.R2354H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	37	7448	-			2354		R -> H (in USH2A).	Extracellular (Potential).|Fibronectin type-III 10.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.7061G>A	CCDS31025.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	9.917	1.211142	0.22289	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53640	0.61;0.61	5.56	-5.71	0.02413	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.141870	0.06669	N	0.765866	T	0.13072	0.0317	N	0.00621	-1.32	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21655	-1.0239	10	0.18276	T	0.48	.	5.5397	0.17031	0.0751:0.2583:0.1031:0.5634	.	2354	O75445	USH2A_HUMAN	H	2354	ENSP00000305941:R2354H;ENSP00000355910:R2354H	ENSP00000305941:R2354H	R	-	2	0	USH2A	214205341	0.095000	0.21747	0.000000	0.03702	0.490000	0.33462	0.145000	0.16157	-0.801000	0.04427	-0.136000	0.14681	CGC		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
SFTPD	6441	broad.mit.edu	37	10	81701253	81701253	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr10:81701253C>T	ENST00000372292.3	-	6	608	c.568G>A	c.(568-570)Ggt>Agt	p.G190S		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	190	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCTGGGGACCCATGGCTCCA	0.507																																						uc001kbh.2																			0				skin(1)	1						c.(568-570)GGT>AGT		pulmonary surfactant-associated protein D							76.0	71.0	72.0					10																	81701253		2203	4300	6503	SO:0001583	missense	6441				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding	g.chr10:81701253C>T	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.568G>A	10.37:g.81701253C>T	ENSP00000361366:p.Gly190Ser					MBL1P_uc001kbf.2_Intron	p.G190S	NM_003019	NP_003010	P35247	SFTPD_HUMAN	Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)		6	611	-	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		190			Collagen-like.		Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Missense_Mutation	SNP	ENST00000372292.3	37	c.568G>A	CCDS7362.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509925	0.85282	.	.	ENSG00000133661	ENST00000372292;ENST00000444384	D;D	0.99607	-6.27;-6.27	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000059	D	0.99809	0.9917	H	0.97896	4.1	0.43657	D	0.996072	D	0.89917	1.0	D	0.97110	1.0	D	0.96976	0.9712	10	0.72032	D	0.01	-13.2123	17.1368	0.86742	0.0:1.0:0.0:0.0	.	190	P35247	SFTPD_HUMAN	S	190;203	ENSP00000361366:G190S;ENSP00000394325:G203S	ENSP00000361366:G190S	G	-	1	0	SFTPD	81691233	0.982000	0.34865	0.231000	0.23993	0.033000	0.12548	5.002000	0.63952	2.645000	0.89757	0.655000	0.94253	GGT		0.507	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049011.1		
MUC5B	727897	broad.mit.edu	37	11	1270908	1270908	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:1270908G>A	ENST00000529681.1	+	31	12856	c.12798G>A	c.(12796-12798)acG>acA	p.T4266T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T4269T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4266	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGGATCCACGGCCACCCCGT	0.647																																						uc009ycr.1																			0					0						c.(14215-14217)ACG>ACA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							120.0	139.0	133.0					11																	1270908		2082	4190	6272	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1270908G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12798G>A	11.37:g.1270908G>A						MUC5B_uc001ltb.2_Silent_p.T4269T	p.T4739T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	14343	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4266			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.14217G>A	CCDS44515.2																																																																																				0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)aacfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483																																						uc001lyy.1																			0				ovary(3)|lung(1)	4						c.(559-561)AACfs		tripartite motif protein 21							211.0	212.0	212.0					11																	4409705		1950	4174	6124	SO:0001589	frameshift_variant	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4409705delT	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.560delA	11.37:g.4409705delT	ENSP00000254436:p.Asn187fs						p.N187fs	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	4	673	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	187			Potential.		Q5XPV5|Q96RF8	Frame_Shift_Del	DEL	ENST00000254436.7	37	c.560delA	CCDS44525.1																																																																																				0.483	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141	
OR52A1	23538	broad.mit.edu	37	11	5172692	5172692	+	Missense_Mutation	SNP	C	C	T	rs371802271		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:5172692C>T	ENST00000380367.1	-	2	1325	c.908G>A	c.(907-909)cGc>cAc	p.R303H	OR52A1_ENST00000328942.1_Missense_Mutation_p.R303H			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	303					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACATGAATGCGAATCTGTGT	0.358																																						uc010qyy.1																			0				ovary(1)|breast(1)	2						c.(907-909)CGC>CAC		olfactory receptor, family 52, subfamily A,		C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	129.0	138.0	135.0		908	3.5	0.0	11		135	0,8594		0,0,4297	no	missense	OR52A1	NM_012375.2	29	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	303/313	5172692	1,12995	2201	4297	6498	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5172692C>T	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.908G>A	11.37:g.5172692C>T	ENSP00000369725:p.Arg303His						p.R303H	NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	908	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	303			Cytoplasmic (Potential).		Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.908G>A	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030112	0.54790	2.27E-4	0.0	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.58358	0.34;0.34	5.37	3.49	0.39957	.	0.139286	0.30742	N	0.008969	T	0.53642	0.1809	M	0.84156	2.68	0.09310	N	1	B	0.19331	0.035	B	0.12837	0.008	T	0.54490	-0.8286	10	0.72032	D	0.01	.	9.4273	0.38588	0.0:0.7665:0.0:0.2335	.	303	Q9UKL2	O52A1_HUMAN	H	303	ENSP00000369725:R303H;ENSP00000333684:R303H	ENSP00000333684:R303H	R	-	2	0	OR52A1	5129268	0.001000	0.12720	0.016000	0.15963	0.746000	0.42486	1.216000	0.32443	0.822000	0.34565	-0.150000	0.13652	CGC		0.358	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375	
PDE3B	5140	broad.mit.edu	37	11	14825558	14825558	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:14825558C>A	ENST00000282096.4	+	5	1837	c.1484C>A	c.(1483-1485)tCt>tAt	p.S495Y	PDE3B_ENST00000455098.2_Missense_Mutation_p.S444Y	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	495					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	AGGTCATCTTCTGTATCACTG	0.358																																						uc001mln.2																			0					0						c.(1483-1485)TCT>TAT		phosphodiesterase 3B							85.0	82.0	83.0					11																	14825558		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14825558C>A	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1484C>A	11.37:g.14825558C>A	ENSP00000282096:p.Ser495Tyr					PDE3B_uc010rcr.1_Missense_Mutation_p.S444Y	p.S495Y	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			5	1837	+			495					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.1484C>A	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504647	0.85176	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.36520	1.25;1.25	5.88	5.88	0.94601	.	3.233620	0.00728	N	0.000920	T	0.69477	0.3115	M	0.70275	2.135	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.51679	-0.8675	10	0.87932	D	0	.	19.8137	0.96557	0.0:1.0:0.0:0.0	.	444;495	B7ZM37;Q13370	.;PDE3B_HUMAN	Y	495;444	ENSP00000282096:S495Y;ENSP00000388644:S444Y	ENSP00000282096:S495Y	S	+	2	0	PDE3B	14782134	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	5.885000	0.69736	2.780000	0.95670	0.655000	0.94253	TCT		0.358	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	
OR4A47	403253	broad.mit.edu	37	11	48511019	48511019	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:48511019C>A	ENST00000446524.1	+	1	751	c.675C>A	c.(673-675)aaC>aaA	p.N225K		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTTTAAAGAACCTTAGTCAGA	0.438																																						uc010rhx.1																			0				ovary(1)|skin(1)	2						c.(673-675)AAC>AAA		olfactory receptor, family 4, subfamily A,							117.0	112.0	114.0					11																	48511019		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511019C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.675C>A	11.37:g.48511019C>A	ENSP00000412752:p.Asn225Lys						p.N225K	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	675	+			225			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000446524.1	37	c.675C>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	3.496	-0.102888	0.06967	.	.	ENSG00000237388	ENST00000446524	T	0.00030	8.9	4.59	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.718117	0.13008	N	0.421101	T	0.00109	0.0003	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.22152	0.038	T	0.05835	-1.0861	9	0.42905	T	0.14	.	7.0165	0.24890	0.0:0.7023:0.0:0.2977	.	225	Q6IF82	O4A47_HUMAN	K	225	ENSP00000412752:N225K	ENSP00000412752:N225K	N	+	3	2	OR4A47	48467595	0.000000	0.05858	0.181000	0.23098	0.125000	0.20455	-3.549000	0.00434	0.911000	0.36747	0.205000	0.17691	AAC		0.438	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512	
OR4A5	81318	broad.mit.edu	37	11	51412194	51412194	+	Missense_Mutation	SNP	C	C	A	rs541242060	byFrequency	TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:51412194C>A	ENST00000319760.6	-	1	254	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TATGCAGCATCTATAAATGAC	0.438													.|||	2	0.000399361	0.0	0.0	5008	,	,		20105	0.0		0.0	False		,,,				2504	0.002					uc001nhi.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(202-204)GAT>TAT		olfactory receptor, family 4, subfamily A,							59.0	59.0	59.0					11																	51412194		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412194C>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.202G>T	11.37:g.51412194C>A	ENSP00000367664:p.Asp68Tyr						p.D68Y	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	202	-		all_lung(304;0.236)	68			Helical; Name=2; (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.202G>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	8.182	0.794054	0.16327	.	.	ENSG00000221840	ENST00000319760	T	0.01185	5.21	1.93	1.93	0.25924	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000160	T	0.11110	0.0271	H	0.98612	4.28	0.20975	N	0.999813	D	0.89917	1.0	D	0.72625	0.978	T	0.09443	-1.0674	10	0.87932	D	0	.	9.9079	0.41388	0.0:1.0:0.0:0.0	.	68	Q8NH83	OR4A5_HUMAN	Y	68	ENSP00000367664:D68Y	ENSP00000367664:D68Y	D	-	1	0	OR4A5	51268770	0.670000	0.27512	0.981000	0.43875	0.048000	0.14542	2.853000	0.48317	1.394000	0.46624	0.162000	0.16502	GAT		0.438	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272	
OR8I2	120586	broad.mit.edu	37	11	55861592	55861592	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:55861592C>T	ENST00000302124.2	+	1	840	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTGACCCAGGCGCAGGTGGCA	0.453																																						uc010rix.1																			0				breast(1)	1						c.(808-810)GCG>GTG		olfactory receptor, family 8, subfamily I,							91.0	89.0	89.0					11																	55861592		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861592C>T	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.809C>T	11.37:g.55861592C>T	ENSP00000303864:p.Ala270Val						p.A270V	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	809	+	Esophageal squamous(21;0.00693)		270			Extracellular (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.809C>T	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437013	0.25900	.	.	ENSG00000172154	ENST00000302124	T	0.00590	6.36	4.33	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001173	T	0.00875	0.0029	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.81914	0.995	T	0.55909	-0.8066	10	0.72032	D	0.01	-6.5477	6.1554	0.20334	0.3316:0.5743:0.0:0.0942	.	270	Q8N0Y5	OR8I2_HUMAN	V	270	ENSP00000303864:A270V	ENSP00000303864:A270V	A	+	2	0	OR8I2	55618168	0.000000	0.05858	0.927000	0.36925	0.393000	0.30537	-0.126000	0.10563	0.889000	0.36185	0.440000	0.28878	GCG		0.453	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750	
FAT3	120114	broad.mit.edu	37	11	92532113	92532113	+	Silent	SNP	C	C	T	rs371269485		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:92532113C>T	ENST00000298047.6	+	9	5951	c.5934C>T	c.(5932-5934)agC>agT	p.S1978S	FAT3_ENST00000525166.1_Silent_p.S1828S|FAT3_ENST00000409404.2_Silent_p.S1978S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1978	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATGGACAGCGGCCTCCACT	0.433										TCGA Ovarian(4;0.039)																												uc001pdj.3																			0				ovary(4)|pancreas(1)	5						c.(5932-5934)AGC>AGT		FAT tumor suppressor homolog 3		C		0,3892		0,0,1946	161.0	157.0	158.0		5934	-6.6	0.8	11		158	1,8263		0,1,4131	no	coding-synonymous	FAT3	NM_001008781.2		0,1,6077	TT,TC,CC		0.0121,0.0,0.0082		1978/4558	92532113	1,12155	1946	4132	6078	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532113C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5934C>T	11.37:g.92532113C>T		TCGA Ovarian(4;0.039)					p.S1978S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	5951	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1978			Cadherin 17.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.5934C>T																																																																																					0.433	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
DDX12P	440081	broad.mit.edu	37	12	9572801	9572801	+	IGR	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:9572801C>T								RP13-735L24.1 (22588 upstream) : SNORA75 (24852 downstream)														p.A751A(2)									ACCTGGAATACGCCAGCAGCA	0.557																																						uc010sgs.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(2251-2253)GCG>GCA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							23.0	9.0	13.0					12																	9572801		688	1575	2263	SO:0001628	intergenic_variant	440081							g.chr12:9572801C>T																													12.37:g.9572801C>T						DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank	p.A751A	NM_004400	NP_004391					22	2448	-									Silent	SNP		37	c.2253G>A																																																																																				0	0.557								
CLEC1A	51267	broad.mit.edu	37	12	10233990	10233990	+	Silent	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:10233990G>T	ENST00000315330.4	-	3	299	c.237C>A	c.(235-237)tcC>tcA	p.S79S	CLEC1A_ENST00000420265.2_Intron|RN7SKP161_ENST00000411110.1_RNA|CLEC1A_ENST00000457018.2_Silent_p.S46S	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	79					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GACCAGTATTGGAGAGCTGGT	0.383																																						uc001qxb.2																			0				ovary(1)|central_nervous_system(1)	2						c.(235-237)TCC>TCA		C-type lectin-like receptor-1							103.0	103.0	103.0					12																	10233990		2203	4300	6503	SO:0001819	synonymous_variant	51267				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	g.chr12:10233990G>T	AY358587	CCDS8612.1, CCDS73443.1	12p13.31	2005-02-09				ENSG00000150048		"""C-type lectin domain containing"""	24355	protein-coding gene	gene with protein product		606782				10671229, 11745369	Standard	XM_005253383		Approved	CLEC1, MGC34328	uc001qxb.3	Q8NC01		ENST00000315330.4:c.237C>A	12.37:g.10233990G>T						CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Silent_p.S36S|CLEC1A_uc010sgx.1_Intron	p.S79S	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN			3	321	-			79			Extracellular (Potential).		Q8IUW7|Q9NZH3	Silent	SNP	ENST00000315330.4	37	c.237C>A	CCDS8612.1																																																																																				0.383	CLEC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399924.1	NM_016511	
PRB1	5542	broad.mit.edu	37	12	11506753	11506753	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:11506753C>A	ENST00000500254.2	-	3	321	c.284G>T	c.(283-285)gGa>gTa	p.G95V	PRB1_ENST00000546254.1_Missense_Mutation_p.G95V|PRB1_ENST00000545626.1_Missense_Mutation_p.G95V	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	34	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGTTTTCCTGGAGGAGA	0.607																																						uc001qzw.1																			0					0						c.(283-285)GGA>GTA		proline-rich protein BstNI subfamily 1 isoform 1							177.0	222.0	206.0					12																	11506753		2160	4271	6431	SO:0001583	missense	5542					extracellular region		g.chr12:11506753C>A		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.284G>T	12.37:g.11506753C>A	ENSP00000420826:p.Gly95Val					PRB1_uc001qzu.1_Missense_Mutation_p.G95V|PRB1_uc001qzv.1_Missense_Mutation_p.G95V	p.G95V	NM_005039	NP_005030	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	321	-			156		Missing (in clone CP-4).|Missing (in clone CP-5).|Missing (in allele S).	6.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	c.284G>T	CCDS8642.1	.	.	.	.	.	.	.	.	.	.	.	6.467	0.454361	0.12283	.	.	ENSG00000251655	ENST00000545626;ENST00000500254;ENST00000546254	T;T;T	0.07800	3.52;3.16;3.16	1.19	0.144	0.14824	.	.	.	.	.	T	0.14313	0.0346	M	0.76838	2.35	0.09310	N	1	P;D;D	0.62365	0.946;0.991;0.991	B;P;P	0.48840	0.271;0.592;0.495	T	0.13045	-1.0524	9	0.66056	D	0.02	.	4.9816	0.14168	0.0:0.7352:0.0:0.2648	.	102;95;95	Q86YA1;G3V1R1;G3V1M9	.;.;.	V	95	ENSP00000444249:G95V;ENSP00000420826:G95V;ENSP00000442127:G95V	ENSP00000420826:G95V	G	-	2	0	PRB1	11398020	0.000000	0.05858	0.008000	0.14137	0.048000	0.14542	-0.031000	0.12287	0.047000	0.15862	0.400000	0.26472	GGA		0.607	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039	
ATP2B1	490	broad.mit.edu	37	12	90024361	90024361	+	Silent	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:90024361T>C	ENST00000428670.3	-	6	1305	c.849A>G	c.(847-849)caA>caG	p.Q283Q	ATP2B1_ENST00000261173.2_Silent_p.Q283Q|ATP2B1_ENST00000348959.3_Silent_p.Q283Q|ATP2B1_ENST00000359142.3_Silent_p.Q283Q|ATP2B1_ENST00000393164.2_Silent_p.Q26Q			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	283					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TAATTCCAGTTTGAGAATTTA	0.328																																						uc001tbh.2																			0				ovary(2)|central_nervous_system(1)	3						c.(847-849)CAA>CAG		plasma membrane calcium ATPase 1 isoform 1b							86.0	81.0	83.0					12																	90024361		2203	4299	6502	SO:0001819	synonymous_variant	490				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr12:90024361T>C	J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.849A>G	12.37:g.90024361T>C						ATP2B1_uc001tbg.2_Silent_p.Q283Q	p.Q283Q	NM_001682	NP_001673	P20020	AT2B1_HUMAN			5	1030	-			283			Cytoplasmic (Potential).		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Silent	SNP	ENST00000428670.3	37	c.849A>G	CCDS9035.1																																																																																				0.328	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
IGF1	3479	broad.mit.edu	37	12	102869429	102869429	+	Missense_Mutation	SNP	A	A	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:102869429A>C	ENST00000307046.8	-	2	393	c.212T>G	c.(211-213)tTt>tGt	p.F71C	IGF1_ENST00000337514.6_Missense_Mutation_p.F71C|IGF1_ENST00000392904.1_Missense_Mutation_p.F71C|IGF1_ENST00000456098.1_Missense_Mutation_p.F71C|IGF1_ENST00000424202.2_Missense_Mutation_p.F55C	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	71	B.				blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACTGAAATAAAAGCCCCTGTC	0.537																																						uc001tjp.3																			0				central_nervous_system(1)|pancreas(1)	2						c.(211-213)TTT>TGT		insulin-like growth factor 1 isoform 3							69.0	73.0	72.0					12																	102869429		2203	4300	6503	SO:0001583	missense	3479				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	g.chr12:102869429A>C	X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"""Endogenous ligands"""	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000307046.8:c.212T>G	12.37:g.102869429A>C	ENSP00000302665:p.Phe71Cys					IGF1_uc001tjn.2_Missense_Mutation_p.F55C|IGF1_uc001tjm.2_Missense_Mutation_p.F71C|IGF1_uc001tjo.2_Missense_Mutation_p.F71C	p.F71C	NM_001111285	NP_001104755	P05019	IGF1_HUMAN			2	431	-			71			B.		B2RWM7|E9PD02|P01343|Q14620	Missense_Mutation	SNP	ENST00000307046.8	37	c.212T>G	CCDS44962.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262244	0.59431	.	.	ENSG00000017427	ENST00000456098;ENST00000337514;ENST00000392904;ENST00000424202;ENST00000392905;ENST00000307046	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.19	5.19	0.71726	Insulin-like (4);	0.000000	0.85682	D	0.000000	D	0.94608	0.8262	H	0.95365	3.66	0.80722	D	1	D;B;B;B	0.89917	1.0;0.285;0.002;0.314	D;B;B;B	0.91635	0.999;0.178;0.01;0.22	D	0.96151	0.9108	10	0.87932	D	0	-24.6375	15.3479	0.74355	1.0:0.0:0.0:0.0	.	71;102;55;71	P05019;Q59GC5;Q14620;E9PD02	IGF1_HUMAN;.;.;.	C	71;71;71;55;52;71	ENSP00000394999:F71C;ENSP00000337612:F71C;ENSP00000376637:F71C;ENSP00000416811:F55C;ENSP00000376638:F52C;ENSP00000302665:F71C	ENSP00000302665:F71C	F	-	2	0	IGF1	101393559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.084000	0.62774	0.533000	0.62120	TTT		0.537	IGF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313855.1	NM_000618	
ANAPC7	51434	broad.mit.edu	37	12	110825638	110825638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:110825638G>A	ENST00000455511.3	-	5	682	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	ANAPC7_ENST00000450008.2_Nonsense_Mutation_p.Q228*|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GGCACGGTTTGGATCACATTC	0.463																																						uc001tqo.2																			0					0						c.(682-684)CAA>TAA		anaphase-promoting complex subunit 7 isoform a							132.0	101.0	112.0					12																	110825638		2203	4300	6503	SO:0001587	stop_gained	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110825638G>A	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.682C>T	12.37:g.110825638G>A	ENSP00000394394:p.Gln228*					ANAPC7_uc001tqp.3_Nonsense_Mutation_p.Q228*	p.Q228*	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN			5	683	-			228					Q96AC4|Q96GF4|Q9BU24|Q9NT16	Nonsense_Mutation	SNP	ENST00000455511.3	37	c.682C>T	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	G	37	6.091382	0.97276	.	.	ENSG00000196510;ENSG00000196510;ENSG00000258210	ENST00000455511;ENST00000450008;ENST00000550231	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-28.4278	20.6397	0.99537	0.0:0.0:1.0:0.0	.	.	.	.	X	228;228;127	.	ENSP00000402314:Q228X	Q	-	1	0	RP11-478C19.2;ANAPC7	109310021	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.471000	0.97696	2.880000	0.98712	0.650000	0.86243	CAA		0.463	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238	
PTPN11	5781	broad.mit.edu	37	12	112926900	112926900	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:112926900C>A	ENST00000351677.2	+	13	1718	c.1520C>A	c.(1519-1521)aCa>aAa	p.T507K		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	511	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		G -> A (in JMML). {ECO:0000269|PubMed:12717436}.|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia). {ECO:0000269|PubMed:12717436, ECO:0000269|PubMed:12960218}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.T507K(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATGGTCCAGACAGAAGCACAG	0.478			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													uc001ttx.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			JMML|AML|MDS		1	Substitution - Missense(1)	p.T507K(3)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(375)|lung(6)|autonomic_ganglia(2)|soft_tissue(2)|central_nervous_system(2)|large_intestine(1)|skin(1)|ovary(1)|NS(1)|kidney(1)	392	GRCh37	CM090464	PTPN11	M		c.(1519-1521)ACA>AAA		protein tyrosine phosphatase, non-receptor type							181.0	169.0	173.0					12																	112926900		2203	4300	6503	SO:0001583	missense	5781	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112926900C>A	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1520C>A	12.37:g.112926900C>A	ENSP00000340944:p.Thr507Lys						p.T507K	NM_002834	NP_002825	Q06124	PTN11_HUMAN			13	1900	+			511			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1520C>A	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347534	0.95807	.	.	ENSG00000179295	ENST00000351677	D	0.99436	-5.9	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.99768	0.9905	H	0.98769	4.325	0.80722	D	1	D	0.65815	0.995	D	0.66602	0.945	D	0.96908	0.9665	10	0.87932	D	0	.	18.9358	0.92584	0.0:1.0:0.0:0.0	.	507	Q06124-2	.	K	507	ENSP00000340944:T507K	ENSP00000340944:T507K	T	+	2	0	PTPN11	111411283	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.553000	0.86117	0.650000	0.86243	ACA		0.478	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
RBM19	9904	broad.mit.edu	37	12	114383718	114383718	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:114383718C>A	ENST00000545145.2	-	13	1619	c.1541G>T	c.(1540-1542)tGg>tTg	p.W514L	RBM19_ENST00000261741.5_Missense_Mutation_p.W514L|RBM19_ENST00000392561.3_Missense_Mutation_p.W514L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	514					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TAGTGTGTTCCAGTTGTGAGA	0.542																																						uc009zwi.2																			0				skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(1540-1542)TGG>TTG		RNA binding motif protein 19							108.0	86.0	93.0					12																	114383718		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114383718C>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1541G>T	12.37:g.114383718C>A	ENSP00000442053:p.Trp514Leu					RBM19_uc001tvn.3_Missense_Mutation_p.W514L|RBM19_uc001tvm.2_Missense_Mutation_p.W514L	p.W514L	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			13	1685	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		514					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1541G>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592062	0.86953	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.08807	3.05;3.05;3.05	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.40719	0.1128	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57825	-0.7744	10	0.66056	D	0.02	-11.8558	17.6635	0.88198	0.0:1.0:0.0:0.0	.	514	Q9Y4C8	RBM19_HUMAN	L	514	ENSP00000442053:W514L;ENSP00000376344:W514L;ENSP00000261741:W514L	ENSP00000261741:W514L	W	-	2	0	RBM19	112868101	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	7.318000	0.79029	2.165000	0.68154	0.650000	0.86243	TGG		0.542	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196	
TCTN2	79867	broad.mit.edu	37	12	124175182	124175182	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:124175182G>A	ENST00000303372.5	+	8	1122	c.994G>A	c.(994-996)Ggt>Agt	p.G332S	TCTN2_ENST00000426174.2_Missense_Mutation_p.G331S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	332					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		AGAACGAGATGGTATTATCAA	0.388																																						uc001ufp.2																			0				ovary(1)	1						c.(994-996)GGT>AGT		tectonic family member 2 isoform 1							106.0	96.0	100.0					12																	124175182		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124175182G>A	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.994G>A	12.37:g.124175182G>A	ENSP00000304941:p.Gly332Ser					TCTN2_uc009zya.2_Missense_Mutation_p.G331S	p.G332S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	8	1122	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		332			Extracellular (Potential).		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.994G>A	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374786	0.24857	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	T;T	0.81247	-1.47;-1.47	5.65	-2.21	0.06973	Domain of unknown function DUF1619 (1);	0.871887	0.10160	N	0.708473	T	0.57198	0.2037	N	0.21097	0.63	0.09310	N	1	B;B	0.18610	0.029;0.029	B;B	0.18871	0.023;0.023	T	0.43956	-0.9359	10	0.07175	T	0.84	.	1.5483	0.02569	0.3964:0.1752:0.2984:0.1299	.	331;332	A8K7Y8;Q96GX1	.;TECT2_HUMAN	S	331;332	ENSP00000395171:G331S;ENSP00000304941:G332S	ENSP00000304941:G332S	G	+	1	0	TCTN2	122741135	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-0.204000	0.09425	-0.279000	0.09167	0.549000	0.68633	GGT		0.388	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809	
NCOR2	9612	broad.mit.edu	37	12	124915195	124915195	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:124915195delG	ENST00000405201.1	-	9	1021	c.1021delC	c.(1021-1023)cgcfs	p.R341fs	NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.R341fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.R341fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.R341fs|NCOR2_ENST00000356219.3_Frame_Shift_Del_p.R341fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	341					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGCTGCTTGCGGATCTCAGGG	0.672																																						uc010tba.1																			0				skin(3)|ovary(1)	4						c.(1021-1023)CGCfs		nuclear receptor co-repressor 2 isoform 2							79.0	88.0	85.0					12																	124915195		2056	4205	6261	SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124915195delG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1021delC	12.37:g.124915195delG	ENSP00000384018:p.Arg341fs					NCOR2_uc010tay.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010taz.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbb.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbc.1_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugk.1_Frame_Shift_Del_p.R341fs	p.R341fs	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	9	1138	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		341					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Del	DEL	ENST00000405201.1	37	c.1021delC	CCDS41858.2																																																																																				0.672	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
HSPH1	10808	broad.mit.edu	37	13	31713139	31713139	+	Missense_Mutation	SNP	T	T	A	rs548315411		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr13:31713139T>A	ENST00000320027.5	-	15	2430	c.2086A>T	c.(2086-2088)Atg>Ttg	p.M696L	HSPH1_ENST00000380405.4_Missense_Mutation_p.M652L|HSPH1_ENST00000380406.5_Missense_Mutation_p.M655L|HSPH1_ENST00000429785.2_Missense_Mutation_p.M515L|HSPH1_ENST00000445273.2_Missense_Mutation_p.M698L	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	696					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGACCTACCATTAATTCTTCC	0.313													T|||	1	0.000199681	0.0	0.0	5008	,	,		18135	0.0		0.0	False		,,,				2504	0.001					uc001utj.2																			0					0						c.(2086-2088)ATG>TTG		heat shock 105kD							113.0	99.0	104.0					13																	31713139		2203	4300	6503	SO:0001583	missense	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31713139T>A	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.2086A>T	13.37:g.31713139T>A	ENSP00000318687:p.Met696Leu					HSPH1_uc001utk.2_Missense_Mutation_p.M652L|HSPH1_uc010aaw.2_Missense_Mutation_p.M655L|HSPH1_uc001utl.2_Missense_Mutation_p.M698L|HSPH1_uc010tds.1_Missense_Mutation_p.M620L	p.M696L	NM_006644	NP_006635	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	15	2484	-		Lung SC(185;0.0257)	696					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Missense_Mutation	SNP	ENST00000320027.5	37	c.2086A>T	CCDS9340.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.484776	0.44147	.	.	ENSG00000120694	ENST00000320027;ENST00000380405;ENST00000380406;ENST00000445273;ENST00000429785	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	5.7	5.7	0.88788	.	0.217022	0.47455	D	0.000231	T	0.11239	0.0274	N	0.14661	0.345	0.36981	D	0.894318	B;B;B;B;B	0.25667	0.131;0.0;0.016;0.007;0.009	B;B;B;B;B	0.29440	0.102;0.001;0.044;0.026;0.044	T	0.16482	-1.0401	10	0.62326	D	0.03	-17.8554	15.9796	0.80097	0.0:0.0:0.0:1.0	.	515;655;698;652;696	B4DY72;Q92598-3;B4DYH1;Q92598-2;Q92598	.;.;.;.;HS105_HUMAN	L	696;652;655;698;515	ENSP00000318687:M696L;ENSP00000369768:M652L;ENSP00000369769:M655L;ENSP00000396090:M698L;ENSP00000388778:M515L	ENSP00000318687:M696L	M	-	1	0	HSPH1	30611139	1.000000	0.71417	0.878000	0.34440	0.148000	0.21650	7.698000	0.84413	2.185000	0.69588	0.528000	0.53228	ATG		0.313	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1		
CCDC70	83446	broad.mit.edu	37	13	52439731	52439731	+	Nonsense_Mutation	SNP	C	C	T	rs200088564		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr13:52439731C>T	ENST00000242819.4	+	2	513	c.217C>T	c.(217-219)Cga>Tga	p.R73*		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	73						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GTGGACTTTCCGAGGCAAGAT	0.458																																						uc001vfu.3																			0					0						c.(217-219)CGA>TGA		coiled-coil domain containing 70 precursor		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	65.0	63.0		217	1.5	0.0	13		63	1,8599		0,1,4299	yes	stop-gained	CCDC70	NM_031290.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		73/234	52439731	2,13004	2203	4300	6503	SO:0001587	stop_gained	83446					extracellular region|plasma membrane		g.chr13:52439731C>T		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.217C>T	13.37:g.52439731C>T	ENSP00000242819:p.Arg73*					uc010tgr.1_RNA	p.R73*	NM_031290	NP_112580	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	513	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	73					Q8N7A8|Q9H097	Nonsense_Mutation	SNP	ENST00000242819.4	37	c.217C>T	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852039	0.51270	2.27E-4	1.16E-4	ENSG00000123171	ENST00000242819	.	.	.	5.26	1.47	0.22746	.	0.386006	0.22473	N	0.059597	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6991	1.7374	0.02944	0.1445:0.4768:0.1406:0.2381	.	.	.	.	X	73	.	ENSP00000242819:R73X	R	+	1	2	CCDC70	51337732	0.122000	0.22280	0.001000	0.08648	0.002000	0.02628	0.241000	0.18065	0.209000	0.20645	-0.302000	0.09304	CGA		0.458	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290	
AP5M1	55745	broad.mit.edu	37	14	57741370	57741370	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr14:57741370C>A	ENST00000261558.3	+	2	889	c.483C>A	c.(481-483)gaC>gaA	p.D161E	AP5M1_ENST00000431972.2_Missense_Mutation_p.D175E	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	161					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											AGTTGCCTGACTTGCTTCTGC	0.368																																						uc001xcv.2																			0				ovary(1)	1						c.(481-483)GAC>GAA		Mu-2 related death-inducing protein							60.0	66.0	64.0					14																	57741370		2202	4300	6502	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57741370C>A	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.483C>A	14.37:g.57741370C>A	ENSP00000261558:p.Asp161Glu					MUDENG_uc001xcu.3_Missense_Mutation_p.D161E|MUDENG_uc010tri.1_Intron|MUDENG_uc010trj.1_Missense_Mutation_p.D58E	p.D161E	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN			2	910	+			161					O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.483C>A	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	4.898	0.166900	0.09339	.	.	ENSG00000053770	ENST00000261558;ENST00000556995;ENST00000431972	T;T	0.28666	1.61;1.6	5.78	-1.35	0.09114	.	0.642665	0.17842	N	0.160170	T	0.12603	0.0306	L	0.34521	1.04	0.25243	N	0.989739	B;B	0.11235	0.0;0.004	B;B	0.09377	0.0;0.004	T	0.28004	-1.0057	10	0.02654	T	1	.	0.3026	0.00275	0.2945:0.1893:0.1463:0.3699	.	161;161	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	E	161;58;175	ENSP00000261558:D161E;ENSP00000390531:D175E	ENSP00000261558:D161E	D	+	3	2	MUDENG	56811123	0.027000	0.19231	0.996000	0.52242	0.907000	0.53573	-0.514000	0.06298	-0.076000	0.12775	-0.189000	0.12847	GAC		0.368	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229	
BCL11B	64919	broad.mit.edu	37	14	99641920	99641920	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr14:99641920G>A	ENST00000357195.3	-	4	1262	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	BCL11B_ENST00000345514.2_Missense_Mutation_p.P347L|BCL11B_ENST00000443726.2_Missense_Mutation_p.P224L	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	418					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTGCGGGGGCGGCGTGCCGCC	0.687			T	TLX3	T-ALL																																	uc001yga.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(1252-1254)CCG>CTG		B-cell CLL/lymphoma 11B isoform 1							10.0	13.0	12.0					14																	99641920		2155	4249	6404	SO:0001583	missense	64919					nucleus	zinc ion binding	g.chr14:99641920G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1253C>T	14.37:g.99641920G>A	ENSP00000349723:p.Pro418Leu					BCL11B_uc001ygb.2_Missense_Mutation_p.P347L	p.P418L	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	4	1520	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	418					Q9H162	Missense_Mutation	SNP	ENST00000357195.3	37	c.1253C>T	CCDS9950.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.140885	0.37825	.	.	ENSG00000127152	ENST00000357195;ENST00000345514;ENST00000443726	T;T;T	0.15017	2.52;2.5;2.46	3.87	3.87	0.44632	.	0.268170	0.30011	N	0.010622	T	0.12902	0.0313	N	0.24115	0.695	0.48975	D	0.999731	B;B	0.29646	0.168;0.253	B;B	0.24155	0.051;0.034	T	0.10660	-1.0620	10	0.52906	T	0.07	-11.1909	16.1802	0.81892	0.0:0.0:1.0:0.0	.	347;418	Q9C0K0-2;Q9C0K0	.;BC11B_HUMAN	L	418;347;224	ENSP00000349723:P418L;ENSP00000280435:P347L;ENSP00000387419:P224L	ENSP00000280435:P347L	P	-	2	0	BCL11B	98711673	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	6.382000	0.73167	1.875000	0.54330	0.491000	0.48974	CCG		0.687	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576	
GABRB3	2562	broad.mit.edu	37	15	26828530	26828530	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:26828530G>A	ENST00000311550.5	-	5	604	c.493C>T	c.(493-495)Ctc>Ttc	p.L165F	GABRB3_ENST00000545868.1_Missense_Mutation_p.L80F|GABRB3_ENST00000400188.3_Missense_Mutation_p.L94F|GABRB3_ENST00000541819.2_Missense_Mutation_p.L221F|GABRB3_ENST00000299267.4_Missense_Mutation_p.L165F	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	165					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TATCTCCTGAGGTCCATCATG	0.453																																						uc001zaz.2																			0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(493-495)CTC>TTC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						165.0	148.0	154.0					15																	26828530		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26828530G>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.493C>T	15.37:g.26828530G>A	ENSP00000308725:p.Leu165Phe					GABRB3_uc010uae.1_Missense_Mutation_p.L80F|GABRB3_uc001zba.2_Missense_Mutation_p.L165F|GABRB3_uc001zbb.2_Missense_Mutation_p.L221F	p.L165F	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	5	635	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	165			Extracellular (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.493C>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448356	0.26074	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	4.76	2.88	0.33553	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.996	D	0.84160	0.0428	10	0.54805	T	0.06	.	6.778	0.23630	0.3803:0.0:0.6197:0.0	.	221;165;165	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	F	165;221;165;94;80;80	ENSP00000308725:L165F;ENSP00000442408:L221F;ENSP00000299267:L165F;ENSP00000383049:L94F;ENSP00000439169:L80F;ENSP00000452272:L80F	ENSP00000299267:L165F	L	-	1	0	GABRB3	24379623	1.000000	0.71417	0.982000	0.44146	0.269000	0.26545	3.186000	0.50942	0.544000	0.28883	-0.142000	0.14014	CTC		0.453	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
ZNF770	54989	broad.mit.edu	37	15	35274803	35274803	+	Missense_Mutation	SNP	G	G	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:35274803G>C	ENST00000356321.4	-	3	1177	c.833C>G	c.(832-834)tCt>tGt	p.S278C		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	278					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTCTCCTCAGATTCACCAAT	0.388																																						uc001ziw.2																			0				ovary(1)	1						c.(832-834)TCT>TGT		zinc finger protein 770							48.0	49.0	49.0					15																	35274803		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274803G>C	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.833C>G	15.37:g.35274803G>C	ENSP00000348673:p.Ser278Cys						p.S278C	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1144	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	278					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.833C>G	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920050	0.33908	.	.	ENSG00000198146	ENST00000356321	T	0.10477	2.87	5.17	4.23	0.50019	.	0.420049	0.19371	U	0.115905	T	0.09291	0.0229	N	0.19112	0.55	0.22811	N	0.998706	P	0.52463	0.953	P	0.46975	0.533	T	0.14643	-1.0465	10	0.52906	T	0.07	-8.3329	9.0266	0.36234	0.2197:0.0:0.7803:0.0	.	278	Q6IQ21	ZN770_HUMAN	C	278	ENSP00000348673:S278C	ENSP00000348673:S278C	S	-	2	0	ZNF770	33062095	0.058000	0.20735	1.000000	0.80357	0.945000	0.59286	2.139000	0.42149	2.677000	0.91161	0.655000	0.94253	TCT		0.388	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106	
UACA	55075	broad.mit.edu	37	15	70957092	70957092	+	Missense_Mutation	SNP	A	A	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:70957092A>T	ENST00000322954.6	-	17	4207	c.4022T>A	c.(4021-4023)cTc>cAc	p.L1341H	UACA_ENST00000539319.1_Missense_Mutation_p.L1232H|UACA_ENST00000560441.1_Missense_Mutation_p.L1326H|UACA_ENST00000379983.2_Missense_Mutation_p.L1328H	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1341					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGTGTAGGTGAGTTGGGAAAG	0.433																																						uc002asr.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(4021-4023)CTC>CAC		uveal autoantigen with coiled-coil domains and							140.0	119.0	126.0					15																	70957092		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70957092A>T	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.4022T>A	15.37:g.70957092A>T	ENSP00000314556:p.Leu1341His					UACA_uc010uke.1_Missense_Mutation_p.L1232H|UACA_uc002asq.2_Missense_Mutation_p.L1328H	p.L1341H	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			17	4126	-			1341			Potential.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.4022T>A	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	A	18.63	3.665403	0.67700	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.61627	0.09;0.09;0.09	6.07	3.73	0.42828	Target SNARE coiled-coil domain (1);	0.107337	0.41938	D	0.000784	T	0.71962	0.3402	M	0.77103	2.36	0.51767	D	0.999936	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.983;0.994;0.994	T	0.73056	-0.4103	10	0.87932	D	0	-3.7257	7.4229	0.27081	0.7837:0.1445:0.0717:0.0	.	1232;1341;1328	F5H2B9;Q9BZF9;G3XAG2	.;UACA_HUMAN;.	H	1341;1328;1232	ENSP00000314556:L1341H;ENSP00000369319:L1328H;ENSP00000438667:L1232H	ENSP00000314556:L1341H	L	-	2	0	UACA	68744146	1.000000	0.71417	0.420000	0.26596	0.759000	0.43091	5.166000	0.64965	1.072000	0.40860	0.533000	0.62120	CTC		0.433	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2		
DNM1P47	100216544	broad.mit.edu	37	15	102292837	102292837	+	RNA	SNP	G	G	A	rs547422822	byFrequency	TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:102292837G>A	ENST00000561463.1	+	0	883									DNM1 pseudogene 47									p.?(1)									CACTCGTGGAGGCGTCGGCAG	0.602													.|||	36	0.0071885	0.0008	0.0144	5008	,	,		41280	0.001		0.0169	False		,,,				2504	0.0072					uc010usj.1																			1	Unknown(1)		prostate(1)								c.(424-426)AGG>AAG		RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																																						0							g.chr15:102292837G>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292837G>A						uc002bxo.2_5'Flank|uc002bxp.3_5'Flank|uc002bxt.2_5'Flank|uc002bxz.3_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank	p.R142K							4	484	+									Missense_Mutation	SNP	ENST00000561463.1	37	c.425G>A																																																																																					0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
C16orf45	89927	broad.mit.edu	37	16	15609227	15609227	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr16:15609227G>A	ENST00000300006.4	+	2	531	c.172G>A	c.(172-174)Gca>Aca	p.A58T	C16orf45_ENST00000566490.1_Missense_Mutation_p.A58T|C16orf45_ENST00000452191.2_Missense_Mutation_p.A41T|C16orf45_ENST00000561692.1_Missense_Mutation_p.A10T	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	58										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GCTGGAGATGGCAAAAATTCA	0.527																																						uc002ddo.2																			0				ovary(1)	1						c.(172-174)GCA>ACA		hypothetical protein LOC89927 isoform 1							131.0	111.0	117.0					16																	15609227		2197	4300	6497	SO:0001583	missense	89927							g.chr16:15609227G>A	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.172G>A	16.37:g.15609227G>A	ENSP00000300006:p.Ala58Thr					C16orf45_uc002ddp.2_Missense_Mutation_p.A41T	p.A58T	NM_033201	NP_149978	Q96MC5	CP045_HUMAN			2	358	+			58					O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	ENST00000300006.4	37	c.172G>A	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734295	0.48939	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.41065	1.01;1.01	5.14	5.14	0.70334	Domain of unknown function DUF3585 (1);	0.285343	0.38663	N	0.001620	T	0.30947	0.0781	L	0.33485	1.01	0.39794	D	0.972472	B;B	0.14012	0.001;0.009	B;B	0.15484	0.012;0.013	T	0.13045	-1.0524	10	0.37606	T	0.19	0.5525	9.6811	0.40070	0.0952:0.0:0.9048:0.0	.	2;58	B4DE25;Q96MC5	.;CP045_HUMAN	T	58;41	ENSP00000300006:A58T;ENSP00000408976:A41T	ENSP00000300006:A58T	A	+	1	0	C16orf45	15516728	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.283000	0.58977	2.356000	0.79943	0.655000	0.94253	GCA		0.527	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201	
ATP2A1	487	broad.mit.edu	37	16	28913648	28913648	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr16:28913648G>A	ENST00000357084.3	+	17	2732	c.2465G>A	c.(2464-2466)cGg>cAg	p.R822Q	ATP2A1_ENST00000395503.4_Missense_Mutation_p.R822Q|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R697Q	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	822					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						CGCCCCCCCCGGAGCCCCAAG	0.657																																						uc002dro.1																			0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2464-2466)CGG>CAG		ATPase, Ca++ transporting, fast twitch 1 isoform							50.0	60.0	57.0					16																	28913648		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.chr16:28913648G>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.2465G>A	16.37:g.28913648G>A	ENSP00000349595:p.Arg822Gln					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R822Q|ATP2A1_uc002drp.1_Missense_Mutation_p.R697Q	p.R822Q	NM_173201	NP_775293	O14983	AT2A1_HUMAN			17	2649	+			822			Cytoplasmic (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.2465G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465288	0.96257	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000536376	D;D;D	0.96940	-4.18;-4.18;-2.38	4.83	4.83	0.62350	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.98582	0.9526	M	0.93550	3.43	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.995	D	0.99643	1.0989	10	0.87932	D	0	.	16.8289	0.85939	0.0:0.0:1.0:0.0	.	697;822;822	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	Q	822;822;697	ENSP00000349595:R822Q;ENSP00000378879:R822Q;ENSP00000443101:R697Q	ENSP00000349595:R822Q	R	+	2	0	ATP2A1	28821149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.565000	0.98154	2.501000	0.84356	0.561000	0.74099	CGG		0.657	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320	
DHRS7C	201140	broad.mit.edu	37	17	9684903	9684903	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:9684903G>A	ENST00000330255.5	-	2	175	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	DHRS7C_ENST00000571134.1_Missense_Mutation_p.R55W	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	55					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGGAACACCCGAGCACACTCT	0.547																																						uc010vvb.1																			0					0						c.(163-165)CGG>TGG		dehydrogenase/reductase (SDR family) member 7C							66.0	69.0	68.0					17																	9684903		1976	4157	6133	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9684903G>A		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.163C>T	17.37:g.9684903G>A	ENSP00000327975:p.Arg55Trp					DHRS7C_uc010cof.2_Missense_Mutation_p.R55W	p.R55W	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN			2	163	-			55			NAD or NADP (By similarity).		B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.163C>T	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880910	0.72294	.	.	ENSG00000184544	ENST00000330255	D	0.90261	-2.64	5.04	5.04	0.67666	NAD(P)-binding domain (1);	0.061993	0.64402	D	0.000003	D	0.94918	0.8357	M	0.82923	2.615	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.73708	0.979;0.981	D	0.95204	0.8319	10	0.72032	D	0.01	.	12.2939	0.54833	0.0:0.0:0.8303:0.1697	.	55;52	A6NNS2;B9EJH3	DRS7C_HUMAN;.	W	55	ENSP00000327975:R55W	ENSP00000327975:R55W	R	-	1	2	DHRS7C	9625628	0.431000	0.25546	0.984000	0.44739	0.963000	0.63663	1.921000	0.40035	2.354000	0.79902	0.557000	0.71058	CGG		0.547	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912	
MAP2K3	5606	broad.mit.edu	37	17	21206533	21206533	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:21206533G>A	ENST00000342679.4	+	7	804	c.555G>A	c.(553-555)tcG>tcA	p.S185S	MAP2K3_ENST00000316920.6_Silent_p.S156S|MAP2K3_ENST00000361818.5_Silent_p.S156S	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCAAGCTGTCGGTGATCCACA	0.622																																						uc002gys.2																			0					0						c.(553-555)TCG>TCA		mitogen-activated protein kinase kinase 3							49.0	41.0	44.0					17																	21206533		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21206533G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.555G>A	17.37:g.21206533G>A						MAP2K3_uc002gyt.2_Silent_p.S156S|MAP2K3_uc002gyu.2_Silent_p.S156S	p.S185S	NM_145109	NP_659731	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	7	820	+			185			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.555G>A	CCDS11217.1																																																																																				0.622	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	
MYO18A	399687	broad.mit.edu	37	17	27422043	27422043	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:27422043C>A	ENST00000527372.1	-	29	4600	c.4420G>T	c.(4420-4422)Gcc>Tcc	p.A1474S	MYO18A_ENST00000354329.4_Missense_Mutation_p.A1474S|MYO18A_ENST00000533112.1_Missense_Mutation_p.A1474S|MYO18A_ENST00000531253.1_Missense_Mutation_p.A1474S	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1474					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCCGCTGGGCCTCCTCATGC	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1																			0					0						c.(4420-4422)GCC>TCC		myosin 18A isoform a							15.0	17.0	16.0					17																	27422043		2097	4223	6320	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27422043C>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4420G>T	17.37:g.27422043C>A	ENSP00000437073:p.Ala1474Ser					MYO18A_uc010wbc.1_Missense_Mutation_p.A1016S|MYO18A_uc002hds.2_Missense_Mutation_p.A1016S|MYO18A_uc010csa.1_Missense_Mutation_p.A1474S|MYO18A_uc002hdu.1_Missense_Mutation_p.A1474S|MYO18A_uc010wbd.1_Missense_Mutation_p.A1143S	p.A1474S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		29	4578	-			1474			Potential.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4420G>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360554	0.24598	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.8	1.19	0.21007	Myosin tail (1);	0.382704	0.31747	N	0.007137	T	0.17746	0.0426	N	0.17474	0.49	0.25196	N	0.990091	B;B;B;B;B	0.27068	0.003;0.073;0.167;0.021;0.078	B;B;B;B;B	0.30716	0.006;0.033;0.053;0.033;0.119	T	0.24548	-1.0157	10	0.20519	T	0.43	.	11.296	0.49277	0.0:0.6124:0.0:0.3876	.	1143;1086;1474;1474;1474	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	S	1474;1474;1474;1474;1474;370;370;1086	ENSP00000346291:A1474S;ENSP00000435932:A1474S;ENSP00000434228:A1474S;ENSP00000437073:A1474S	ENSP00000346291:A1474S	A	-	1	0	MYO18A	24446169	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.693000	0.37742	0.383000	0.24910	0.655000	0.94253	GCC		0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
IKZF3	22806	broad.mit.edu	37	17	37922611	37922611	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:37922611C>T	ENST00000346872.3	-	8	1023	c.962G>A	c.(961-963)cGc>cAc	p.R321H	IKZF3_ENST00000377952.2_Missense_Mutation_p.R100H|IKZF3_ENST00000439167.2_Missense_Mutation_p.R248H|IKZF3_ENST00000377945.3_Missense_Mutation_p.R187H|IKZF3_ENST00000439016.2_Missense_Mutation_p.R226H|IKZF3_ENST00000583368.1_Missense_Mutation_p.R74H|IKZF3_ENST00000394189.2_Missense_Mutation_p.R139H|IKZF3_ENST00000377944.3_Missense_Mutation_p.R178H|IKZF3_ENST00000467757.1_Missense_Mutation_p.R265H|IKZF3_ENST00000351680.3_Missense_Mutation_p.R282H|IKZF3_ENST00000350532.3_Missense_Mutation_p.R282H|IKZF3_ENST00000377958.2_Missense_Mutation_p.R234H|IKZF3_ENST00000346243.3_Missense_Mutation_p.R243H|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000535189.1_Missense_Mutation_p.R287H	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	321				R -> C (in Ref. 1; AAF13493 and 2; CAC80427/CAC80428/CAC80429/CAC80430/ CAC80431). {ECO:0000305}.	B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GACCAAGGGGCGCAGGGCTTC	0.547																																						uc002hsu.2																			0				lung(2)|kidney(2)|skin(2)	6						c.(961-963)CGC>CAC		aiolos isoform 1							94.0	87.0	89.0					17																	37922611		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922611C>T	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.962G>A	17.37:g.37922611C>T	ENSP00000344544:p.Arg321His					IKZF3_uc002htd.2_Missense_Mutation_p.R287H|IKZF3_uc010cwd.2_Missense_Mutation_p.R178H|IKZF3_uc002hsv.2_Missense_Mutation_p.R248H|IKZF3_uc010cwe.2_Missense_Mutation_p.R187H|IKZF3_uc010cwf.2_Missense_Mutation_p.R139H|IKZF3_uc010cwg.2_Missense_Mutation_p.R100H|IKZF3_uc002hsw.2_Missense_Mutation_p.R282H|IKZF3_uc002hsx.2_Missense_Mutation_p.R265H|IKZF3_uc002hsy.2_Missense_Mutation_p.R282H|IKZF3_uc002hsz.2_Missense_Mutation_p.R226H|IKZF3_uc002hta.2_Missense_Mutation_p.R243H|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R234H|IKZF3_uc002htc.2_Missense_Mutation_p.R74H|IKZF3_uc010wel.1_Missense_Mutation_p.R74H	p.R321H	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1024	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		321	R -> C (in Ref. 1; AAF13493 and 2; CAC80427/CAC80428/CAC80429/CAC80430/ CAC80431).				B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.962G>A	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.694887|4.694887	0.88830|0.88830	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000439167;ENST00000439016|ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	.|T;T;T;T;T;T;T;T;T;T	.|0.11385	.|2.98;3.04;2.82;2.78;3.14;3.04;3.17;3.19;3.09;4.01	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.000000	.|0.64402	.|D	.|0.000011	T|T	0.32466|0.32466	0.0830|0.0830	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.961;0.999;1.0;1.0;0.999	.|D;D;D;D;D;D;D;D;P;D;D;D;D	.|0.91635	.|0.998;0.999;0.999;0.999;0.999;0.99;0.998;0.999;0.479;0.989;0.998;0.998;0.95	T|T	0.00253|0.00253	-1.1875|-1.1875	5|10	.|0.26408	.|T	.|0.33	-21.3391|-21.3391	20.3053|20.3053	0.98627|0.98627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|234;100;139;187;178;287;243;226;282;265;282;248;321	.|Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9	.|.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	T|H	236;275|321;226;187;139;178;234;100;287;282;243;282;265	.|ENSP00000367180:R187H;ENSP00000377741:R139H;ENSP00000367179:R178H;ENSP00000367194:R234H;ENSP00000367188:R100H;ENSP00000438972:R287H;ENSP00000345622:R282H;ENSP00000341977:R243H;ENSP00000344471:R282H;ENSP00000420463:R265H	.|ENSP00000341977:R243H	A|R	-|-	1|2	0|0	IKZF3|IKZF3	35176137|35176137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.818000|7.818000	0.86416|0.86416	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.547	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481	
RPTOR	57521	broad.mit.edu	37	17	78727945	78727945	+	Missense_Mutation	SNP	A	A	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:78727945A>C	ENST00000306801.3	+	6	1152	c.790A>C	c.(790-792)Acc>Ccc	p.T264P	RPTOR_ENST00000544334.2_Missense_Mutation_p.T264P|RPTOR_ENST00000537330.1_Missense_Mutation_p.T79P|RPTOR_ENST00000570891.1_Missense_Mutation_p.T264P|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	264					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGACCTATTCACCTCCTGCCT	0.657																																						uc002jyt.1																			0				lung(4)|urinary_tract(1)|ovary(1)	6						c.(790-792)ACC>CCC		raptor isoform 1							141.0	141.0	141.0					17																	78727945		2203	4300	6503	SO:0001583	missense	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78727945A>C		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.790A>C	17.37:g.78727945A>C	ENSP00000307272:p.Thr264Pro					RPTOR_uc002jys.2_Missense_Mutation_p.T264P|RPTOR_uc010wuf.1_Missense_Mutation_p.T79P|RPTOR_uc010wug.1_Missense_Mutation_p.T264P	p.T264P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			6	1595	+			264					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	c.790A>C	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	A	31	5.063225	0.93898	.	.	ENSG00000141564	ENST00000537330;ENST00000306801;ENST00000544334	T;T	0.72051	-0.61;-0.62	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	H	0.96080	3.765	0.80722	D	1	D;D;D	0.89917	0.997;0.996;1.0	D;D;D	0.80764	0.991;0.944;0.994	D	0.92546	0.6046	10	0.87932	D	0	.	15.9442	0.79782	1.0:0.0:0.0:0.0	.	264;79;264	F5H7J5;F5GXV9;Q8N122	.;.;RPTOR_HUMAN	P	79;264;264	ENSP00000307272:T264P;ENSP00000442479:T264P	ENSP00000307272:T264P	T	+	1	0	RPTOR	76342540	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.254000	0.95512	2.166000	0.68216	0.533000	0.62120	ACC		0.657	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
APCDD1	147495	broad.mit.edu	37	18	10471619	10471619	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr18:10471619G>A	ENST00000355285.5	+	3	689	c.335G>A	c.(334-336)aGc>aAc	p.S112N	APCDD1_ENST00000578882.1_Missense_Mutation_p.S112N	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TATTATGGCAGCAACCGGTGC	0.532																																						uc002kom.3																			0					0						c.(334-336)AGC>AAC		adenomatosis polyposis coli down-regulated 1							76.0	74.0	74.0					18																	10471619		2203	4300	6503	SO:0001583	missense	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10471619G>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.335G>A	18.37:g.10471619G>A	ENSP00000347433:p.Ser112Asn						p.S112N	NM_153000	NP_694545	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	689	+			112			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000355285.5	37	c.335G>A	CCDS11849.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045184	0.36085	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.15952	2.38	5.3	5.3	0.74995	.	0.135896	0.64402	D	0.000002	T	0.07324	0.0185	N	0.02011	-0.69	0.31769	N	0.632333	B	0.02656	0.0	B	0.04013	0.001	T	0.06197	-1.0840	10	0.41790	T	0.15	-38.5865	12.3259	0.55011	0.0779:0.0:0.9221:0.0	.	112	Q8J025	APCD1_HUMAN	N	112;163	ENSP00000347433:S112N	ENSP00000347433:S112N	S	+	2	0	APCDD1	10461619	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.099000	0.76981	2.477000	0.83638	0.655000	0.94253	AGC		0.532	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000	
MUC16	94025	broad.mit.edu	37	19	9084743	9084743	+	Silent	SNP	G	G	T	rs372186047		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:9084743G>T	ENST00000397910.4	-	1	7275	c.7072C>A	c.(7072-7074)Cgg>Agg	p.R2358R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2358	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGTTTTCCGTGCGTCAAGG	0.433																																						uc002mkp.2																			0		p.R2358P(1)		lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(7072-7074)CGG>AGG		mucin 16							154.0	151.0	152.0					19																	9084743		1938	4142	6080	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084743G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7072C>A	19.37:g.9084743G>T							p.R2358R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	7276	-			2358			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.7072C>A	CCDS54212.1																																																																																				0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
SMARCA4	6597	broad.mit.edu	37	19	11136160	11136160	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:11136160C>T	ENST00000429416.3	+	23	3425	c.3144C>T	c.(3142-3144)caC>caT	p.H1048H	SMARCA4_ENST00000590574.1_Silent_p.H1048H|SMARCA4_ENST00000344626.4_Silent_p.H1048H|SMARCA4_ENST00000450717.3_Silent_p.H1048H|SMARCA4_ENST00000589677.1_Silent_p.H1048H|SMARCA4_ENST00000541122.2_Silent_p.H1048H|SMARCA4_ENST00000413806.3_Silent_p.H1048H|SMARCA4_ENST00000444061.3_Silent_p.H1048H|SMARCA4_ENST00000358026.2_Silent_p.H1048H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1048					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCTGCAACCACCCCTACATGT	0.617			"""F, N, Mis"""		NSCLC																																	uc002mqf.3				Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3142-3144)CAC>CAT		SWI/SNF-related matrix-associated							109.0	88.0	95.0					19																	11136160		2203	4300	6503	SO:0001819	synonymous_variant	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11136160C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3144C>T	19.37:g.11136160C>T						SMARCA4_uc010dxp.2_Silent_p.H1048H|SMARCA4_uc010dxo.2_Silent_p.H1048H|SMARCA4_uc002mqg.1_Silent_p.H1048H|SMARCA4_uc010dxq.2_Silent_p.H1048H|SMARCA4_uc010dxr.2_Silent_p.H1048H|SMARCA4_uc002mqj.3_Silent_p.H1048H|SMARCA4_uc010dxs.2_Silent_p.H1048H|SMARCA4_uc010dxt.1_Silent_p.H268H|SMARCA4_uc002mqh.3_Silent_p.H171H|SMARCA4_uc002mqi.1_Silent_p.H251H	p.H1048H	NM_003072	NP_003063	P51532	SMCA4_HUMAN			22	3428	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1048					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.3144C>T	CCDS12253.1																																																																																				0.617	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
CEACAM7	1087	broad.mit.edu	37	19	42191016	42191016	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:42191016C>A	ENST00000006724.3	-	2	402	c.201G>T	c.(199-201)tgG>tgT	p.W67C	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Missense_Mutation_p.W67C|CEACAM7_ENST00000401731.1_Missense_Mutation_p.W67C|CEACAM7_ENST00000602225.1_Missense_Mutation_p.W67C	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	67	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W67*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CCCCTTTGTACCAGTTGTAGC	0.458																																						uc002ori.1																			1	Substitution - Nonsense(1)		breast(1)	ovary(2)	2						c.(199-201)TGG>TGT		carcinoembryonic antigen-related cell adhesion							109.0	115.0	113.0					19																	42191016		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42191016C>A	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.201G>T	19.37:g.42191016C>A	ENSP00000006724:p.Trp67Cys					CEACAM7_uc010ehx.2_Missense_Mutation_p.W67C|CEACAM7_uc010ehy.1_Missense_Mutation_p.W67C	p.W67C	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	203	-			67			Ig-like V-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.201G>T	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112576	0.37242	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.54675	0.56;0.56;0.56	1.68	1.68	0.24146	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78046	0.4222	H	0.97440	4.005	0.37982	D	0.933648	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80792	-0.1224	9	0.87932	D	0	.	6.8117	0.23809	0.0:1.0:0.0:0.0	.	67;67	Q14002-2;Q14002	.;CEAM7_HUMAN	C	67	ENSP00000006724:W67C;ENSP00000385932:W67C;ENSP00000343286:W67C	ENSP00000006724:W67C	W	-	3	0	CEACAM7	46882856	0.927000	0.31430	0.741000	0.31004	0.294000	0.27393	2.476000	0.45171	1.235000	0.43724	0.313000	0.20887	TGG		0.458	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890	
CCDC8	83987	broad.mit.edu	37	19	46915568	46915568	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:46915568G>A	ENST00000307522.3	-	1	1273	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	167					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCGGGCAGGCGGCGCGCTGGG	0.647																																						uc002pep.2																			0				ovary(3)	3						c.(499-501)CCG>CTG		coiled-coil domain containing 8							32.0	36.0	35.0					19																	46915568		2202	4300	6502	SO:0001583	missense	83987					plasma membrane		g.chr19:46915568G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.500C>T	19.37:g.46915568G>A	ENSP00000303158:p.Pro167Leu						p.P167L	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1352	-			167					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.500C>T	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745933	0.30955	.	.	ENSG00000169515	ENST00000307522	T	0.22539	1.95	4.66	-0.662	0.11413	.	0.360955	0.20390	N	0.093266	T	0.15046	0.0363	M	0.62723	1.935	0.09310	N	1	P	0.46327	0.876	B	0.31495	0.131	T	0.20940	-1.0260	10	0.72032	D	0.01	-2.4472	8.515	0.33239	0.0:0.1345:0.2594:0.6061	.	167	Q9H0W5	CCDC8_HUMAN	L	167	ENSP00000303158:P167L	ENSP00000303158:P167L	P	-	2	0	CCDC8	51607408	0.002000	0.14202	0.000000	0.03702	0.012000	0.07955	0.690000	0.25451	0.179000	0.19938	0.655000	0.94253	CCG		0.647	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040	
PRKCG	5582	broad.mit.edu	37	19	54401216	54401216	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:54401216G>A	ENST00000263431.3	+	10	1225	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	PRKCG_ENST00000540413.1_Missense_Mutation_p.V315M|PRKCG_ENST00000536044.1_Silent_p.G285G|PRKCG_ENST00000542049.1_Missense_Mutation_p.V202M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	315				RVRM -> VSRT (in Ref. 5; AAA60102). {ECO:0000305}.	activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TCCACAGCGGGTGCGGATGGG	0.582																																						uc002qcq.1																			0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(943-945)GTG>ATG		protein kinase C, gamma							113.0	117.0	115.0					19																	54401216		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54401216G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.943G>A	19.37:g.54401216G>A	ENSP00000263431:p.Val315Met					PRKCG_uc010yef.1_Silent_p.G285G|PRKCG_uc010yeg.1_Missense_Mutation_p.V315M|PRKCG_uc010yeh.1_Missense_Mutation_p.V202M	p.V315M	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	10	1225	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		315	RVRM -> VSRT (in Ref. 3; AAA60102).				B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.943G>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786824	0.49997	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.70749	-0.51;-0.51;-0.49	5.06	5.06	0.68205	.	.	.	.	.	T	0.62109	0.2401	N	0.14661	0.345	0.28771	N	0.900351	B;P;B	0.44044	0.075;0.825;0.014	B;P;B	0.46585	0.011;0.521;0.01	T	0.60010	-0.7346	9	0.45353	T	0.12	.	14.2693	0.66143	0.0:0.0:1.0:0.0	.	202;315;315	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	M	315;315;202	ENSP00000443493:V315M;ENSP00000263431:V315M;ENSP00000438090:V202M	ENSP00000263431:V315M	V	+	1	0	PRKCG	59093028	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.783000	0.55409	2.530000	0.85305	0.484000	0.47621	GTG		0.582	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
KIR3DL2	3812	broad.mit.edu	37	19	55378070	55378070	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:55378070C>A	ENST00000326321.3	+	9	1285	c.1252C>A	c.(1252-1254)Ccc>Acc	p.P418T	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P418T|RNU6-222P_ENST00000362438.1_RNA|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.P401T	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	418					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TTCTCAGAGGCCCAAGACACC	0.522																																						uc002qhl.3																			0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5						c.(1252-1254)CCC>ACC		SubName: Full=KIR3DS1;							268.0	263.0	265.0					19																	55378070		2203	4300	6503	SO:0001583	missense	3811				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity	g.chr19:55378070C>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1252C>A	19.37:g.55378070C>A	ENSP00000325525:p.Pro418Thr					KIR3DL2_uc010esh.2_Missense_Mutation_p.P401T|KIR3DL2_uc002qho.3_Missense_Mutation_p.P418T	p.P418T			P43629	KI3L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1315	+			418			Cytoplasmic (Potential).		Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.1252C>A	CCDS12906.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747400	0.30955	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00493	7.08;7.02;7.0	1.72	-2.9	0.05648	.	.	.	.	.	T	0.01061	0.0035	M	0.72894	2.215	0.09310	N	1	B;D;D	0.89917	0.243;1.0;1.0	B;D;D	0.87578	0.119;0.996;0.998	T	0.46414	-0.9193	9	0.87932	D	0	.	2.6866	0.05109	0.0:0.3528:0.2603:0.3869	.	401;418;418	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	T	418;418;401	ENSP00000384528:P418T;ENSP00000325525:P418T;ENSP00000270442:P401T	ENSP00000384528:P418T	P	+	1	0	KIR3DL1;KIR3DL2	60069882	0.001000	0.12720	0.001000	0.08648	0.030000	0.12068	0.278000	0.18753	-0.297000	0.08934	0.499000	0.49734	CCC		0.522	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1		
NLRP7	199713	broad.mit.edu	37	19	55451740	55451740	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:55451740G>A	ENST00000590030.1	-	3	487	c.447C>T	c.(445-447)gaC>gaT	p.D149D	NLRP7_ENST00000328092.5_Silent_p.D149D|NLRP7_ENST00000446217.1_Silent_p.D177D|NLRP7_ENST00000448121.2_Silent_p.D149D|NLRP7_ENST00000592784.1_Silent_p.D149D|NLRP7_ENST00000340844.2_Silent_p.D149D|NLRP7_ENST00000588756.1_Silent_p.D149D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	149							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGAGTGACGTCGTCATGGA	0.498																																						uc002qih.3																			0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(445-447)GAC>GAT		NACHT, leucine rich repeat and PYD containing 7							246.0	263.0	257.0					19																	55451740		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55451740G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.447C>T	19.37:g.55451740G>A						NLRP7_uc002qig.3_Silent_p.D149D|NLRP7_uc002qii.3_Silent_p.D149D|NLRP7_uc010esk.2_Silent_p.D149D|NLRP7_uc010esl.2_Silent_p.D177D	p.D149D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	523	-			149					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.447C>T	CCDS33109.1																																																																																				0.498	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
NLRP4	147945	broad.mit.edu	37	19	56382210	56382210	+	Missense_Mutation	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:56382210T>C	ENST00000301295.6	+	7	2794	c.2372T>C	c.(2371-2373)cTc>cCc	p.L791P	NLRP4_ENST00000587891.1_Missense_Mutation_p.L716P|NLRP4_ENST00000346986.5_Missense_Mutation_p.L735P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	791					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTGCCACCTCAGCGAGCAG	0.498																																						uc002qmd.3																			0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2371-2373)CTC>CCC		NLR family, pyrin domain containing 4							132.0	116.0	121.0					19																	56382210		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56382210T>C	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2372T>C	19.37:g.56382210T>C	ENSP00000301295:p.Leu791Pro					NLRP4_uc002qmf.2_Missense_Mutation_p.L716P|NLRP4_uc010etf.2_Missense_Mutation_p.L566P	p.L791P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	7	2794	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	791					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2372T>C	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	14.08	2.428517	0.43122	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.62364	0.03;0.14	3.94	3.94	0.45596	.	.	.	.	.	T	0.80909	0.4714	M	0.89715	3.055	0.21933	N	0.999466	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	T	0.70163	-0.4947	9	0.87932	D	0	.	9.3502	0.38133	0.0:0.0:0.0:1.0	.	735;716;791	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	P	791;735	ENSP00000301295:L791P;ENSP00000344787:L735P	ENSP00000301295:L791P	L	+	2	0	NLRP4	61074022	0.016000	0.18221	0.005000	0.12908	0.005000	0.04900	3.012000	0.49575	1.785000	0.52413	0.528000	0.53228	CTC		0.498	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
ASAP2	8853	broad.mit.edu	37	2	9347326	9347326	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:9347326G>A	ENST00000281419.3	+	1	433	c.93G>A	c.(91-93)gcG>gcA	p.A31A	ASAP2_ENST00000315273.4_Silent_p.A31A	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	31					positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCCGCACGGCGCAGTGCCGGA	0.731																																						uc002qzh.2																			0					0						c.(91-93)GCG>GCA		ArfGAP with SH3 domain, ankyrin repeat and PH							24.0	26.0	25.0					2																	9347326		2200	4298	6498	SO:0001819	synonymous_variant	8853				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr2:9347326G>A	AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.93G>A	2.37:g.9347326G>A						ASAP2_uc002qzi.2_Silent_p.A31A	p.A31A	NM_003887	NP_003878	O43150	ASAP2_HUMAN			1	433	+			31					D6W4Y8	Silent	SNP	ENST00000281419.3	37	c.93G>A	CCDS1661.1																																																																																				0.731	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000237522.1	NM_003887	
EHD3	30845	broad.mit.edu	37	2	31484555	31484555	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:31484555C>A	ENST00000322054.5	+	5	1341	c.1056C>A	c.(1054-1056)gaC>gaA	p.D352E	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	352					blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CACCTGGGGACTTCCCCAATC	0.592																																						uc002rnu.2																			0				skin(2)	2						c.(1054-1056)GAC>GAA		EH-domain containing 3							97.0	95.0	96.0					2																	31484555		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31484555C>A	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.1056C>A	2.37:g.31484555C>A	ENSP00000327116:p.Asp352Glu					EHD3_uc010ymt.1_Intron	p.D352E	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			5	1664	+	Acute lymphoblastic leukemia(172;0.155)		352					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.1056C>A	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435216	0.83885	.	.	ENSG00000013016	ENST00000322054	T	0.34072	1.38	6.04	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.65165	0.2665	H	0.95328	3.655	0.80722	D	1	D	0.55172	0.97	P	0.60609	0.877	T	0.73613	-0.3927	10	0.87932	D	0	-49.58	9.5593	0.39360	0.0:0.7917:0.0:0.2083	.	352	Q9NZN3	EHD3_HUMAN	E	352	ENSP00000327116:D352E	ENSP00000327116:D352E	D	+	3	2	EHD3	31338059	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.945000	0.29056	1.576000	0.49790	0.561000	0.74099	GAC		0.592	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	
BCL11A	53335	broad.mit.edu	37	2	60689292	60689292	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:60689292G>A	ENST00000335712.6	-	4	982	c.755C>T	c.(754-756)tCc>tTc	p.S252F	BCL11A_ENST00000356842.4_Missense_Mutation_p.S252F|BCL11A_ENST00000538214.1_Missense_Mutation_p.S218F|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.S218F|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	252					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCCAGGCCGGAAGCCTCTCT	0.567			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(754-756)TCC>TTC		B-cell CLL/lymphoma 11A isoform 1							68.0	69.0	68.0					2																	60689292		2203	4300	6503	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689292G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.755C>T	2.37:g.60689292G>A	ENSP00000338774:p.Ser252Phe					BCL11A_uc002sab.2_Missense_Mutation_p.S252F|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.S218F|BCL11A_uc002sad.1_Missense_Mutation_p.S100F|BCL11A_uc002saf.1_Missense_Mutation_p.S218F	p.S252F	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	983	-			252					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.755C>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357670	0.24598	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.08807	3.05;3.36;3.34;3.28	6.02	6.02	0.97574	.	0.130441	0.53938	D	0.000057	T	0.18718	0.0449	L	0.40543	1.245	0.80722	D	1	P;P;P;D	0.54397	0.897;0.936;0.939;0.966	P;P;P;P	0.55667	0.708;0.571;0.702;0.781	T	0.00042	-1.2227	10	0.41790	T	0.15	-0.0079	20.5407	0.99260	0.0:0.0:1.0:0.0	.	218;218;252;252	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	F	252;288;218;252;218	ENSP00000349300:S252F;ENSP00000438303:S218F;ENSP00000338774:S252F;ENSP00000351307:S218F	ENSP00000338774:S252F	S	-	2	0	BCL11A	60542796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.605000	0.74155	2.865000	0.98341	0.655000	0.94253	TCC		0.567	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893	
CKAP2L	150468	broad.mit.edu	37	2	113514622	113514622	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:113514622G>A	ENST00000302450.6	-	4	404	c.326C>T	c.(325-327)tCt>tTt	p.S109F	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	109						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGGGTTAGAAGAAACACATTC	0.473																																						uc002tie.2																			0					0						c.(325-327)TCT>TTT		cytoskeleton associated protein 2-like							169.0	181.0	177.0					2																	113514622		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514622G>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.326C>T	2.37:g.113514622G>A	ENSP00000305204:p.Ser109Phe					CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	p.S109F	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			4	405	-			109					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.326C>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824181	0.50739	.	.	ENSG00000169607	ENST00000302450	T	0.10763	2.84	5.15	5.15	0.70609	.	0.437129	0.21773	N	0.069330	T	0.30166	0.0756	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	T	0.00380	-1.1776	10	0.66056	D	0.02	-9.1735	14.8477	0.70272	0.0:0.0:1.0:0.0	.	109	Q8IYA6	CKP2L_HUMAN	F	109	ENSP00000305204:S109F	ENSP00000305204:S109F	S	-	2	0	CKAP2L	113231093	0.997000	0.39634	0.720000	0.30636	0.016000	0.09150	4.267000	0.58877	2.787000	0.95880	0.585000	0.79938	TCT		0.473	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515	
MARCO	8685	broad.mit.edu	37	2	119726837	119726837	+	Splice_Site	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:119726837G>T	ENST00000327097.4	+	2	334	c.199G>T	c.(199-201)Gtt>Ttt	p.V67F	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	67					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGTGGTCCAAGGTAAAGCAGG	0.612																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(199-201)GTT>TTT		macrophage receptor with collagenous structure							97.0	88.0	91.0					2																	119726837		2203	4300	6503	SO:0001630	splice_region_variant	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119726837G>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.199+1G>T	2.37:g.119726837G>T						MARCO_uc010yyf.1_5'UTR	p.V67F	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			2	331	+			67			Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.199G>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	7.726	0.698224	0.15106	.	.	ENSG00000019169	ENST00000327097;ENST00000410021	D	0.92249	-3.0	4.54	4.54	0.55810	.	0.000000	0.47852	D	0.000216	D	0.92319	0.7563	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.91033	0.4865	9	.	.	.	.	12.6521	0.56768	0.0:0.0:1.0:0.0	.	67	Q9UEW3	MARCO_HUMAN	F	67	ENSP00000318916:V67F	.	V	+	1	0	MARCO	119443307	1.000000	0.71417	0.976000	0.42696	0.043000	0.13939	4.291000	0.59025	2.343000	0.79666	0.655000	0.94253	GTT		0.612	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	Missense_Mutation
LRP1B	53353	broad.mit.edu	37	2	141143511	141143511	+	Silent	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:141143511C>A	ENST00000389484.3	-	67	11453	c.10482G>T	c.(10480-10482)cgG>cgT	p.R3494R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3494	LDL-receptor class A 25. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCTATCACACCGCCAGTGAT	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10480-10482)CGG>CGT		low density lipoprotein-related protein 1B							142.0	133.0	136.0					2																	141143511		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141143511C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10482G>T	2.37:g.141143511C>A		TSP Lung(27;0.18)					p.R3494R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	67	11454	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3494			Extracellular (Potential).|LDL-receptor class A 25.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.10482G>T	CCDS2182.1																																																																																				0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
CSRNP3	80034	broad.mit.edu	37	2	166535947	166535947	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:166535947C>T	ENST00000342316.4	+	5	1714	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	CSRNP3_ENST00000314499.7_Missense_Mutation_p.A481V|CSRNP3_ENST00000409420.1_Missense_Mutation_p.A513V	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	481					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GTTGACTATGCCCGACAAGCA	0.512																																						uc002udf.2																			0				ovary(3)|large_intestine(1)|skin(1)	5						c.(1441-1443)GCC>GTC		cysteine-serine-rich nuclear protein 3							78.0	69.0	72.0					2																	166535947		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166535947C>T	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1442C>T	2.37:g.166535947C>T	ENSP00000344042:p.Ala481Val					CSRNP3_uc002udg.2_Missense_Mutation_p.A481V	p.A481V	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			7	1818	+			481					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.1442C>T	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206549	0.58343	.	.	ENSG00000178662	ENST00000314499;ENST00000342316;ENST00000409420	T;T;T	0.48522	0.81;0.81;0.81	5.88	5.88	0.94601	.	0.116799	0.64402	D	0.000013	T	0.37183	0.0994	N	0.19112	0.55	0.46203	D	0.998926	B	0.26809	0.16	B	0.27715	0.082	T	0.11641	-1.0579	9	.	.	.	-22.9571	20.2422	0.98381	0.0:1.0:0.0:0.0	.	481	Q8WYN3	CSRN3_HUMAN	V	481;481;513	ENSP00000318258:A481V;ENSP00000344042:A481V;ENSP00000387195:A513V	.	A	+	2	0	CSRNP3	166244193	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.202000	0.77856	2.782000	0.95742	0.655000	0.94253	GCC		0.512	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969	
SP5	389058	broad.mit.edu	37	2	171573817	171573817	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:171573817G>A	ENST00000375281.3	+	2	1262	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	AC007405.2_ENST00000409786.1_5'Flank	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	367					bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CGCTTCATGCGCAGCGACCAC	0.647																																						uc002uge.2																			0					0						c.(1099-1101)CGC>CAC		Sp5 transcription factor							32.0	33.0	33.0					2																	171573817		2203	4300	6503	SO:0001583	missense	389058				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:171573817G>A		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053	ENST00000375281.3:c.1100G>A	2.37:g.171573817G>A	ENSP00000364430:p.Arg367His						p.R367H	NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN			2	1266	+			367			C2H2-type 3.			Missense_Mutation	SNP	ENST00000375281.3	37	c.1100G>A	CCDS33322.1	.	.	.	.	.	.	.	.	.	.	G	34	5.344526	0.95807	.	.	ENSG00000204335	ENST00000375281	T	0.71341	-0.56	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84655	0.0703	10	0.87932	D	0	.	19.9651	0.97262	0.0:0.0:1.0:0.0	.	367	Q6BEB4	SP5_HUMAN	H	367	ENSP00000364430:R367H	ENSP00000364430:R367H	R	+	2	0	SP5	171282063	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.828000	0.62730	2.793000	0.96121	0.655000	0.94253	CGC		0.647	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333670.1	XM_371581	
TTN	7273	broad.mit.edu	37	2	179613920	179613920	+	Intron	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:179613920C>A	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G4403C|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGATCTACCAAGTTTTCCA	0.328																																						uc002unb.2																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(13207-13209)GGT>TGT		titin isoform novex-3							50.0	53.0	52.0					2																	179613920		2202	4297	6499	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179613920C>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.10360+3930G>T	2.37:g.179613920C>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.G4403C	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13431	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.13207G>T		.	.	.	.	.	.	.	.	.	.	C	16.37	3.105587	0.56291	.	.	ENSG00000155657	ENST00000360870	T	0.60171	0.21	5.95	-2.3	0.06785	.	.	.	.	.	T	0.43233	0.1238	N	0.14661	0.345	0.09310	N	1	D	0.55800	0.973	P	0.50378	0.639	T	0.39981	-0.9587	9	0.66056	D	0.02	.	6.2882	0.21045	0.0:0.4534:0.1985:0.3481	.	4403	Q8WZ42-6	.	C	4403	ENSP00000354117:G4403C	ENSP00000354117:G4403C	G	-	1	0	TTN	179322165	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-0.149000	0.10204	-0.482000	0.06782	0.563000	0.77884	GGT		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SF3B1	23451	broad.mit.edu	37	2	198267454	198267454	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:198267454C>A	ENST00000335508.6	-	14	1994	c.1903G>T	c.(1903-1905)Gta>Tta	p.V635L	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	635					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCAGAGGCTACAACAGCAAAA	0.448			Mis		myelodysplastic syndrome																																	uc002uue.2				Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					0				pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(1903-1905)GTA>TTA		splicing factor 3b, subunit 1 isoform 1							97.0	94.0	95.0					2																	198267454		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267454C>A	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1903G>T	2.37:g.198267454C>A	ENSP00000335321:p.Val635Leu						p.V635L	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1951	-			635			HEAT 3.		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1903G>T	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318891	0.95682	.	.	ENSG00000115524	ENST00000335508	T	0.60299	0.2	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83367	0.5239	M	0.93197	3.39	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.86401	0.1742	10	0.62326	D	0.03	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	635	O75533	SF3B1_HUMAN	L	635	ENSP00000335321:V635L	ENSP00000335321:V635L	V	-	1	0	SF3B1	197975699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.670000	0.83925	2.752000	0.94435	0.655000	0.94253	GTA		0.448	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		
SGOL2	151246	broad.mit.edu	37	2	201437781	201437781	+	Missense_Mutation	SNP	T	T	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:201437781T>G	ENST00000357799.4	+	7	2810	c.2712T>G	c.(2710-2712)aaT>aaG	p.N904K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	904					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAAAAATAAATAAGCTCAGGA	0.299																																						uc002uvw.2																			0				ovary(2)|skin(2)	4						c.(2710-2712)AAT>AAG		shugoshin-like 2 isoform 1							73.0	76.0	75.0					2																	201437781		1785	4016	5801	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437781T>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2712T>G	2.37:g.201437781T>G	ENSP00000350447:p.Asn904Lys					SGOL2_uc010zhd.1_Missense_Mutation_p.N904K|SGOL2_uc010zhe.1_Missense_Mutation_p.N904K	p.N904K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	2825	+			904					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2712T>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	T	8.298	0.819250	0.16607	.	.	ENSG00000163535	ENST00000357799	T	0.12569	2.67	5.21	2.75	0.32379	.	0.703054	0.12960	N	0.425103	T	0.15305	0.0369	L	0.51422	1.61	0.09310	N	1	D;D;P	0.55385	0.971;0.971;0.904	P;P;P	0.49752	0.621;0.536;0.463	T	0.13361	-1.0512	10	0.27785	T	0.31	-3.7323	3.281	0.06915	0.2043:0.1101:0.0:0.6856	.	904;904;904	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	K	904	ENSP00000350447:N904K	ENSP00000350447:N904K	N	+	3	2	SGOL2	201146026	0.940000	0.31905	0.037000	0.18230	0.168000	0.22595	1.154000	0.31688	0.954000	0.37851	0.477000	0.44152	AAT		0.299	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524	
CPS1	1373	broad.mit.edu	37	2	211515146	211515146	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:211515146C>T	ENST00000233072.5	+	28	3660	c.3464C>T	c.(3463-3465)gCg>gTg	p.A1155V	CPS1_ENST00000451903.2_Missense_Mutation_p.A704V|CPS1_ENST00000430249.2_Missense_Mutation_p.A1161V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1155	ATP-grasp 2.		A -> E (in CPS1D). {ECO:0000269|PubMed:21120950}.|A -> V (in CPS1D). {ECO:0000269|PubMed:21120950}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CTAGAAGAGGCGACTAGAGTT	0.368																																						uc002vee.3																			0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(3463-3465)GCG>GTG		carbamoyl-phosphate synthetase 1 isoform b							131.0	130.0	130.0					2																	211515146		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211515146C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.3464C>T	2.37:g.211515146C>T	ENSP00000233072:p.Ala1155Val					CPS1_uc010fur.2_Missense_Mutation_p.A1161V|CPS1_uc010fus.2_Missense_Mutation_p.A704V	p.A1155V	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	28	3596	+			1155			ATP-grasp 2.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.3464C>T	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936802	0.92458	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	D;D;D	0.98028	-4.67;-4.67;-4.67	5.62	5.62	0.85841	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99616	1.0982	10	0.87932	D	0	-8.7932	20.0281	0.97530	0.0:1.0:0.0:0.0	.	1165;1155	Q59HF8;P31327	.;CPSM_HUMAN	V	1161;1163;1155;704	ENSP00000402608:A1161V;ENSP00000233072:A1155V;ENSP00000406136:A704V	ENSP00000233072:A1155V	A	+	2	0	CPS1	211223391	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	6.959000	0.76031	2.818000	0.97014	0.655000	0.94253	GCG		0.368	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
UGT1A9	54600	broad.mit.edu	37	2	234581022	234581022	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:234581022G>A	ENST00000354728.4	+	1	524	c.442G>A	c.(442-444)Gat>Aat	p.D148N	UGT1A1_ENST00000609637.1_Missense_Mutation_p.D148N|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	148					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.D148N(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	AGTGTTTCTCGATCCTTTTGA	0.373																																						uc002vus.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(3)|breast(1)|skin(1)	5						c.(442-444)GAT>AAT		UDP glycosyltransferase 1 family, polypeptide A9	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)						142.0	140.0	141.0					2																	234581022		2203	4300	6503	SO:0001583	missense	54600				drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234581022G>A	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.442G>A	2.37:g.234581022G>A	ENSP00000346768:p.Asp148Asn					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.D148N	p.D148N	NM_021027	NP_066307	O60656	UD19_HUMAN		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	479	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)	148					B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.442G>A	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397022	0.62177	.	.	ENSG00000241119	ENST00000354728	T	0.71698	-0.59	3.41	3.41	0.39046	.	.	.	.	.	D	0.85444	0.5698	M	0.93978	3.48	0.43947	D	0.996612	D;D	0.65815	0.995;0.995	P;P	0.58721	0.844;0.844	D	0.90248	0.4291	9	0.72032	D	0.01	.	15.414	0.74948	0.0:0.0:1.0:0.0	.	148;148	Q5DSZ5;O60656	.;UD19_HUMAN	N	148	ENSP00000346768:D148N	ENSP00000346768:D148N	D	+	1	0	UGT1A9	234245761	1.000000	0.71417	0.985000	0.45067	0.185000	0.23345	7.530000	0.81962	1.907000	0.55213	0.440000	0.28878	GAT		0.373	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027	
SLC7A4	6545	broad.mit.edu	37	22	21384419	21384419	+	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:21384419A>G	ENST00000382932.2	-	3	1271	c.1204T>C	c.(1204-1206)Tac>Cac	p.Y402H	SLC7A4_ENST00000403586.1_Missense_Mutation_p.Y402H|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	402					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACGAATGTGTAGGCCAGGAGT	0.657																																						uc002zud.2																			0				ovary(1)|lung(1)	2						c.(1204-1206)TAC>CAC		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						39.0	40.0	40.0					22																	21384419		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21384419A>G	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1204T>C	22.37:g.21384419A>G	ENSP00000372390:p.Tyr402His					SLC7A4_uc002zue.2_Missense_Mutation_p.Y402H	p.Y402H	NM_004173	NP_004164	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	1272	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	402			Helical; (Potential).		Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.1204T>C	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.826725	0.71143	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.90788	-2.73;-2.73	4.94	3.9	0.45041	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95101	0.8413	M	0.88570	2.965	0.58432	D	0.999995	D	0.76494	0.999	D	0.78314	0.991	D	0.94556	0.7758	10	0.72032	D	0.01	.	9.1367	0.36879	0.9126:0.0:0.0874:0.0	.	402	O43246	CTR4_HUMAN	H	402	ENSP00000384278:Y402H;ENSP00000372390:Y402H	ENSP00000372390:Y402H	Y	-	1	0	SLC7A4	19714419	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	8.701000	0.91331	1.005000	0.39183	0.459000	0.35465	TAC		0.657	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173	
RRP7A	27341	broad.mit.edu	37	22	42910784	42910784	+	Splice_Site	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:42910784C>T	ENST00000323013.6	-	5	477	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	154							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K154K(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CACTGATCCACTCTGAGGAAA	0.602																																						uc003bcq.2																			1	Substitution - coding silent(1)		prostate(1)	central_nervous_system(1)|skin(1)	2						c.(460-462)AAG>AAA		ribosomal RNA processing 7 homolog A							46.0	50.0	49.0					22																	42910784		2189	4299	6488	SO:0001630	splice_region_variant	27341						nucleotide binding|RNA binding	g.chr22:42910784C>T	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.461-1G>A	22.37:g.42910784C>T						SERHL_uc011apm.1_Intron|RRP7A_uc003bcp.2_Silent_p.K177K	p.K154K	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN			5	478	-			154					A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	ENST00000323013.6	37	c.462G>A	CCDS14036.1																																																																																				0.602	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703	Silent
MOV10L1	54456	broad.mit.edu	37	22	50596619	50596619	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:50596619C>T	ENST00000262794.5	+	23	3283	c.3200C>T	c.(3199-3201)aCg>aTg	p.T1067M	MOV10L1_ENST00000354853.2_Missense_Mutation_p.T110M|MOV10L1_ENST00000540615.1_Missense_Mutation_p.T1047M|MOV10L1_ENST00000395858.3_Missense_Mutation_p.T1067M|MOV10L1_ENST00000395843.1_Missense_Mutation_p.T110M|MOV10L1_ENST00000395852.1_Missense_Mutation_p.T194M|MOV10L1_ENST00000545383.1_Missense_Mutation_p.T1067M	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	1067					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGCGTCATCACGCCCTACCGG	0.657																																						uc003bjj.2																			0				ovary(2)|skin(1)	3						c.(3199-3201)ACG>ATG		MOV10-like 1 isoform 1							68.0	58.0	62.0					22																	50596619		2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50596619C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.3200C>T	22.37:g.50596619C>T	ENSP00000262794:p.Thr1067Met					MOV10L1_uc003bjk.3_Missense_Mutation_p.T1067M|MOV10L1_uc011arp.1_Missense_Mutation_p.T1047M|MOV10L1_uc003bjl.2_Missense_Mutation_p.T194M|MOV10L1_uc003bjm.1_Missense_Mutation_p.T110M	p.T1067M	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	23	3283	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	1067					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.3200C>T	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	.	22.3	4.266991	0.80469	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000395843;ENST00000540615;ENST00000395852;ENST00000354853	D;D;D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59;-3.59;-3.59	4.7	4.7	0.59300	.	0.158017	0.56097	D	0.000027	D	0.98254	0.9422	H	0.96916	3.905	0.53688	D	0.999971	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.994;0.992;0.995;0.998	D	0.99782	1.1028	10	0.87932	D	0	-22.5825	16.7691	0.85532	0.0:1.0:0.0:0.0	.	1047;110;194;1067;1067	F5H403;Q9BXT6-3;Q9BXT6-2;A8MXC6;Q9BXT6	.;.;.;.;M10L1_HUMAN	M	1067;1067;1067;110;1047;194;110	ENSP00000438978:T1067M;ENSP00000262794:T1067M;ENSP00000379199:T1067M;ENSP00000379184:T110M;ENSP00000438542:T1047M;ENSP00000379193:T194M;ENSP00000346917:T110M	ENSP00000262794:T1067M	T	+	2	0	MOV10L1	48938746	1.000000	0.71417	0.995000	0.50966	0.822000	0.46500	6.881000	0.75584	2.304000	0.77564	0.643000	0.83706	ACG		0.657	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
ITPR1	3708	broad.mit.edu	37	3	4699832	4699832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:4699832C>T	ENST00000443694.2	+	10	976	c.976C>T	c.(976-978)Cga>Tga	p.R326*	ITPR1_ENST00000456211.2_Nonsense_Mutation_p.R326*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.R326*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.R341*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.R341*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.R341*			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	341	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGACGCCTCTCGAAGTAGGTT	0.488																																						uc003bqa.2																			0				lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21						c.(1021-1023)CGA>TGA		inositol 1,4,5-triphosphate receptor, type 1							154.0	155.0	155.0					3																	4699832		1994	4158	6152	SO:0001587	stop_gained	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4699832C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.976C>T	3.37:g.4699832C>T	ENSP00000401671:p.Arg326*					ITPR1_uc010hca.1_Nonsense_Mutation_p.R326*|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Nonsense_Mutation_p.R326*	p.R341*	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	13	1369	+			341			Cytoplasmic (Potential).|MIR 4.		E7EPX7|E9PDE9|Q14660|Q99897	Nonsense_Mutation	SNP	ENST00000443694.2	37	c.1021C>T	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	C	38	6.716999	0.97784	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	.	.	.	5.19	3.15	0.36227	.	0.184139	0.45606	D	0.000346	.	.	.	.	.	.	0.50313	D	0.999868	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	11.2788	0.49181	0.6087:0.3913:0.0:0.0	.	.	.	.	X	341;326;341;341;341;326;326	.	ENSP00000306253:R326X	R	+	1	2	ITPR1	4674832	0.065000	0.20965	0.704000	0.30370	0.218000	0.24690	0.359000	0.20233	1.144000	0.42321	0.655000	0.94253	CGA		0.488	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
SLC6A6	6533	broad.mit.edu	37	3	14513770	14513770	+	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:14513770C>G	ENST00000454876.2	+	10	1483	c.1154C>G	c.(1153-1155)aCa>aGa	p.T385R	SLC6A6_ENST00000360861.3_Missense_Mutation_p.T385R			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	385					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CCGCTGCCCACATTTTGGTCC	0.537																																						uc010heg.2																			0				ovary(1)	1						c.(1153-1155)ACA>AGA		solute carrier family 6 (neurotransmitter							138.0	122.0	127.0					3																	14513770		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14513770C>G		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1154C>G	3.37:g.14513770C>G	ENSP00000398063:p.Thr385Arg					SLC6A6_uc003byq.2_Missense_Mutation_p.T385R|SLC6A6_uc003byr.2_RNA	p.T385R	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN			17	1445	+			385			Helical; Name=8; (Potential).		B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.1154C>G	CCDS33705.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.87|18.87	3.714605|3.714605	0.68730|0.68730	.|.	.|.	ENSG00000131389|ENSG00000131389	ENST00000452151|ENST00000454876;ENST00000360861	.|T;T	.|0.74526	.|-0.85;-0.85	5.35|5.35	4.47|4.47	0.54385|0.54385	.|.	.|0.090329	.|0.85682	.|D	.|0.000000	T|T	0.69708|0.69708	0.3141|0.3141	L|L	0.53617|0.53617	1.68|1.68	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.38195	.|0.622	.|B	.|0.36335	.|0.222	T|T	0.75557|0.75557	-0.3276|-0.3276	6|10	0.87932|0.87932	D|D	0|0	.|.	14.2934|14.2934	0.66295|0.66295	0.0:0.9273:0.0:0.0727|0.0:0.9273:0.0:0.0727	.|.	.|385	.|P31641	.|SC6A6_HUMAN	Q|R	7|385	.|ENSP00000398063:T385R;ENSP00000354107:T385R	ENSP00000416199:H343Q|ENSP00000354107:T385R	H|T	+|+	3|2	2|0	SLC6A6|SLC6A6	14488774|14488774	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	6.082000|6.082000	0.71318|0.71318	2.497000|2.497000	0.84241|0.84241	0.591000|0.591000	0.81541|0.81541	CAC|ACA		0.537	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043	
C3orf20	84077	broad.mit.edu	37	3	14799033	14799033	+	Missense_Mutation	SNP	G	G	A	rs151210868		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:14799033G>A	ENST00000253697.3	+	13	2548	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	C3orf20_ENST00000435614.1_Missense_Mutation_p.R577H|C3orf20_ENST00000412910.1_Missense_Mutation_p.R577H	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	699						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAGCTGGAGCGCTTCCTGTTG	0.627																																						uc003byy.2																			0				ovary(3)|skin(1)	4						c.(2095-2097)CGC>CAC		hypothetical protein LOC84077		G	HIS/ARG,HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	57.0	55.0	56.0		1730,1730,2096	1.0	1.0	3	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	C3orf20	NM_001184957.1,NM_001184958.1,NM_032137.4	29,29,29	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign,benign,benign	577/783,577/783,699/905	14799033	4,13002	2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14799033G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2096G>A	3.37:g.14799033G>A	ENSP00000253697:p.Arg699His					C3orf20_uc003byz.2_Missense_Mutation_p.R577H|C3orf20_uc003bza.2_Missense_Mutation_p.R577H|C3orf20_uc003bzb.1_Missense_Mutation_p.R200H|C3orf20_uc011avj.1_Missense_Mutation_p.R26H	p.R699H	NM_032137	NP_115513	Q8ND61	CC020_HUMAN			13	2500	+			699					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.2096G>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	8.634	0.894366	0.17613	6.81E-4	1.16E-4	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.09255	3.29;3.0;3.0	4.95	1.01	0.19927	.	0.468209	0.18721	N	0.133017	T	0.07728	0.0194	L	0.42245	1.32	0.28660	N	0.906166	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.005	T	0.22068	-1.0227	10	0.30854	T	0.27	-11.9609	3.5934	0.07997	0.273:0.0:0.5442:0.1828	.	577;699	Q8ND61-2;Q8ND61	.;CC020_HUMAN	H	699;577;577	ENSP00000253697:R699H;ENSP00000402933:R577H;ENSP00000396081:R577H	ENSP00000253697:R699H	R	+	2	0	C3orf20	14774037	0.907000	0.30839	1.000000	0.80357	0.071000	0.16799	0.383000	0.20651	0.479000	0.27511	0.297000	0.19635	CGC		0.627	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
TTC21A	199223	broad.mit.edu	37	3	39156148	39156148	+	Missense_Mutation	SNP	G	G	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:39156148G>C	ENST00000431162.2	+	6	765	c.631G>C	c.(631-633)Ggg>Cgg	p.G211R	TTC21A_ENST00000440121.1_Missense_Mutation_p.G170R|TTC21A_ENST00000301819.6_Missense_Mutation_p.G211R			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	211										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTGACTTCAGGGAGCTTCCT	0.552																																						uc003cjc.2																			0				ovary(1)	1						c.(631-633)GGG>CGG		tetratricopeptide repeat domain 21A isoform 2							117.0	116.0	116.0					3																	39156148		2035	4182	6217	SO:0001583	missense	199223						binding	g.chr3:39156148G>C	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.631G>C	3.37:g.39156148G>C	ENSP00000398211:p.Gly211Arg					TTC21A_uc003cja.2_Missense_Mutation_p.G211R|TTC21A_uc010hho.1_Missense_Mutation_p.G133R|TTC21A_uc003cjb.2_Missense_Mutation_p.R77T|TTC21A_uc003cje.2_Missense_Mutation_p.G211R|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.G170R	p.G211R	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	6	808	+			211			TPR 4.		A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.631G>C	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	9.697	1.153437	0.21371	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.63096	-0.02;-0.02;2.3	5.0	0.414	0.16406	Tetratricopeptide-like helical (1);	1.278730	0.05251	N	0.514009	T	0.36303	0.0962	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B	0.14438	0.003;0.004;0.01;0.006;0.004	B;B;B;B;B	0.14023	0.003;0.004;0.01;0.005;0.004	T	0.26916	-1.0089	10	0.56958	D	0.05	-5.1371	1.4823	0.02439	0.1975:0.3576:0.2622:0.1828	.	170;211;211;211;211	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	R	211;211;211;170	ENSP00000301819:G211R;ENSP00000398211:G211R;ENSP00000410882:G170R	ENSP00000301819:G211R	G	+	1	0	TTC21A	39131152	0.116000	0.22171	0.000000	0.03702	0.549000	0.35272	1.172000	0.31908	0.125000	0.18397	-0.254000	0.11334	GGG		0.552	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	
CACNA2D2	9254	broad.mit.edu	37	3	50416395	50416395	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:50416395C>T	ENST00000479441.1	-	13	1289	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	CACNA2D2_ENST00000395083.1_Silent_p.Q430Q|CACNA2D2_ENST00000423994.2_Silent_p.Q430Q|CACNA2D2_ENST00000266039.3_Silent_p.Q430Q|CACNA2D2_ENST00000424201.2_Silent_p.Q430Q|CACNA2D2_ENST00000435965.1_Silent_p.Q430Q|CACNA2D2_ENST00000360963.3_Silent_p.Q361Q|CACNA2D2_ENST00000429770.1_Silent_p.Q430Q			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	430	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CATAGTTATGCTGCCCCACGG	0.587																																						uc003daq.2																			0				lung(1)	1						c.(1288-1290)CAG>CAA		calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)						85.0	76.0	79.0					3																	50416395		2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50416395C>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1290G>A	3.37:g.50416395C>T						CACNA2D2_uc003dap.2_Silent_p.Q430Q	p.Q430Q	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	13	1328	-			430			VWFA.|Extracellular (Potential).		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.1290G>A	CCDS54588.1																																																																																				0.587	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030	
ACOX2	8309	broad.mit.edu	37	3	58520774	58520774	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:58520774G>A	ENST00000302819.5	-	2	351	c.60C>T	c.(58-60)ccC>ccT	p.P20P	ACOX2_ENST00000459701.2_Silent_p.P20P	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	20					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTCTATGTCGGGGTGCATTT	0.552																																						uc003dkl.2																			0					0						c.(58-60)CCC>CCT		acyl-Coenzyme A oxidase 2							288.0	253.0	265.0					3																	58520774		2203	4300	6503	SO:0001819	synonymous_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58520774G>A	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.60C>T	3.37:g.58520774G>A							p.P20P	NM_003500	NP_003491	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	2	235	-			20					A6NF16|B2R8U5	Silent	SNP	ENST00000302819.5	37	c.60C>T	CCDS33775.1																																																																																				0.552	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1		
KLF15	28999	broad.mit.edu	37	3	126071173	126071173	+	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:126071173C>G	ENST00000296233.3	-	2	823	c.593G>C	c.(592-594)gGt>gCt	p.G198A	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	198					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TGCACTGGCACCACCTGGTGG	0.662																																						uc011bkk.1																			0				lung(1)	1						c.(592-594)GGT>GCT		Kruppel-like factor 15							25.0	27.0	27.0					3																	126071173		2203	4300	6503	SO:0001583	missense	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126071173C>G	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.593G>C	3.37:g.126071173C>G	ENSP00000296233:p.Gly198Ala						p.G198A	NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	2	775	-			198						Missense_Mutation	SNP	ENST00000296233.3	37	c.593G>C	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	C	0.145	-1.098271	0.01843	.	.	ENSG00000163884	ENST00000296233	T	0.07800	3.16	4.44	3.54	0.40534	.	0.758305	0.12991	N	0.422482	T	0.07458	0.0188	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36962	-0.9726	10	0.11182	T	0.66	.	12.4061	0.55441	0.0:0.81:0.1899:0.0	.	198	Q9UIH9	KLF15_HUMAN	A	198	ENSP00000296233:G198A	ENSP00000296233:G198A	G	-	2	0	KLF15	127553863	0.000000	0.05858	0.002000	0.10522	0.137000	0.21094	0.606000	0.24194	1.142000	0.42291	0.491000	0.48974	GGT		0.662	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079	
COL6A6	131873	broad.mit.edu	37	3	130325803	130325803	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:130325803G>A	ENST00000358511.6	+	20	4713	c.4682G>A	c.(4681-4683)gGc>gAc	p.G1561D	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1561D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1561	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGACATACAGGCCCACAGGTA	0.353																																						uc010htl.2																			0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(4681-4683)GGC>GAC		collagen type VI alpha 6 precursor							80.0	77.0	78.0					3																	130325803		1850	4093	5943	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130325803G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4682G>A	3.37:g.130325803G>A	ENSP00000351310:p.Gly1561Asp					COL6A6_uc003eni.3_5'UTR	p.G1561D	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			20	4713	+			1561			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.4682G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795096	0.50208	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.99619	-6.28;-6.28	5.38	5.38	0.77491	.	.	.	.	.	D	0.99764	0.9904	H	0.97103	3.94	0.42030	D	0.991027	D	0.89917	1.0	D	0.87578	0.998	D	0.97211	0.9871	9	0.87932	D	0	.	14.6146	0.68539	0.0:0.0:1.0:0.0	.	1561	A6NMZ7	CO6A6_HUMAN	D	1561	ENSP00000351310:G1561D;ENSP00000399236:G1561D	ENSP00000351310:G1561D	G	+	2	0	COL6A6	131808493	1.000000	0.71417	0.998000	0.56505	0.690000	0.40134	4.676000	0.61627	2.530000	0.85305	0.655000	0.94253	GGC		0.353	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
CPB1	1360	broad.mit.edu	37	3	148562321	148562321	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:148562321C>A	ENST00000491148.1	+	8	967	c.633C>A	c.(631-633)gaC>gaA	p.D211E	CPB1_ENST00000282957.4_Missense_Mutation_p.D211E			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	211						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACAAGTTAGACTTTTATGTCC	0.413																																						uc003ewl.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(631-633)GAC>GAA		pancreatic carboxypeptidase B1 preproprotein							110.0	91.0	98.0					3																	148562321		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148562321C>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.633C>A	3.37:g.148562321C>A	ENSP00000417222:p.Asp211Glu						p.D211E	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		7	656	+			211					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.633C>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738246	0.69304	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.11495	2.77;2.77;2.77	5.78	4.9	0.64082	Peptidase M14, carboxypeptidase A (2);	0.045023	0.85682	D	0.000000	T	0.22282	0.0537	L	0.49778	1.585	0.80722	D	1	P	0.45348	0.856	P	0.53722	0.733	T	0.00521	-1.1691	10	0.72032	D	0.01	.	15.2049	0.73173	0.0:0.9319:0.0:0.0681	.	211	P15086	CBPB1_HUMAN	E	211;211;177	ENSP00000417222:D211E;ENSP00000282957:D211E;ENSP00000419427:D177E	ENSP00000282957:D211E	D	+	3	2	CPB1	150045011	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	1.128000	0.31369	1.435000	0.47434	0.655000	0.94253	GAC		0.413	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	
SLC7A14	57709	broad.mit.edu	37	3	170198876	170198876	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:170198876C>A	ENST00000231706.5	-	7	1510	c.1195G>T	c.(1195-1197)Gca>Tca	p.A399S	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	399					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACCAACAGTGCGAGGAGCGCT	0.592																																						uc003fgz.2																			0				ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1195-1197)GCA>TCA		solute carrier family 7 (cationic amino acid							76.0	66.0	69.0					3																	170198876		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198876C>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1195G>T	3.37:g.170198876C>A	ENSP00000231706:p.Ala399Ser					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.A399S	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1511	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		399			Helical; (Potential).		B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1195G>T	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	C	3.436	-0.114986	0.06881	.	.	ENSG00000013293	ENST00000231706	D	0.89810	-2.57	5.3	2.89	0.33648	Amino acid permease domain (1);	0.429503	0.27362	N	0.019711	D	0.86134	0.5860	L	0.49256	1.55	0.34365	D	0.691467	B	0.19706	0.038	B	0.29785	0.107	D	0.83803	0.0237	10	0.45353	T	0.12	.	12.1894	0.54261	0.7167:0.2833:0.0:0.0	.	399	Q8TBB6	S7A14_HUMAN	S	399	ENSP00000231706:A399S	ENSP00000231706:A399S	A	-	1	0	SLC7A14	171681570	1.000000	0.71417	0.879000	0.34478	0.098000	0.18820	1.829000	0.39121	0.319000	0.23209	-0.262000	0.10625	GCA		0.592	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949	
DRD5	1816	broad.mit.edu	37	4	9784478	9784478	+	Missense_Mutation	SNP	C	C	A	rs201762034		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr4:9784478C>A	ENST00000304374.2	+	1	1221	c.825C>A	c.(823-825)agC>agA	p.S275R		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	275					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.S275R(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GCCGGAGCAGCGCAGCCTGCG	0.637																																						uc003gmb.3																			2	Substitution - Missense(2)		prostate(1)|lung(1)	skin(1)	1						c.(823-825)AGC>AGA		dopamine receptor D5	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						24.0	23.0	23.0					4																	9784478		2200	4286	6486	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784478C>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.825C>A	4.37:g.9784478C>A	ENSP00000306129:p.Ser275Arg						p.S275R	NM_000798	NP_000789	P21918	DRD5_HUMAN			1	1221	+			275			Cytoplasmic (Potential).		B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.825C>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	c	3.108	-0.183303	0.06340	.	.	ENSG00000169676	ENST00000304374	T	0.68624	-0.34	4.6	-3.74	0.04385	GPCR, rhodopsin-like superfamily (1);	2.577270	0.01820	N	0.034008	T	0.47637	0.1456	L	0.33137	0.985	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.08597	-1.0714	10	0.18710	T	0.47	.	0.5996	0.00742	0.329:0.2707:0.11:0.2903	.	275	P21918	DRD5_HUMAN	R	275	ENSP00000306129:S275R	ENSP00000306129:S275R	S	+	3	2	DRD5	9393576	0.000000	0.05858	0.001000	0.08648	0.730000	0.41778	-0.494000	0.06451	-0.695000	0.05105	0.305000	0.20034	AGC		0.637	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
BOD1L1	259282	broad.mit.edu	37	4	13583896	13583896	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr4:13583896C>T	ENST00000040738.5	-	19	8692	c.8557G>A	c.(8557-8559)Gag>Aag	p.E2853K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2853						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCGTTCTGCTCTGGCTTTTCA	0.383																																						uc003gmz.1																			0				ovary(5)|breast(1)	6						c.(8557-8559)GAG>AAG		biorientation of chromosomes in cell division							131.0	124.0	126.0					4																	13583896		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13583896C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.8557G>A	4.37:g.13583896C>T	ENSP00000040738:p.Glu2853Lys						p.E2853K	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			19	8674	-			2853					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.8557G>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994769	0.54041	.	.	ENSG00000038219	ENST00000040738	T	0.08282	3.11	5.61	5.61	0.85477	.	0.000000	0.56097	D	0.000033	T	0.07548	0.0190	N	0.24115	0.695	0.33039	D	0.531183	P	0.43094	0.799	B	0.43360	0.417	T	0.18618	-1.0331	10	0.31617	T	0.26	-8.3623	10.6526	0.45657	0.0:0.9126:0.0:0.0874	.	2853	Q8NFC6	BOD1L_HUMAN	K	2853	ENSP00000040738:E2853K	ENSP00000040738:E2853K	E	-	1	0	BOD1L	13192994	0.933000	0.31639	0.943000	0.38184	0.158000	0.22134	1.760000	0.38430	2.631000	0.89168	0.650000	0.86243	GAG		0.383	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
EGF	1950	broad.mit.edu	37	4	110915953	110915953	+	Silent	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr4:110915953T>C	ENST00000265171.5	+	20	3367	c.2922T>C	c.(2920-2922)tcT>tcC	p.S974S	EGF_ENST00000503392.1_Silent_p.S933S|RNU6-35P_ENST00000384530.1_RNA|EGF_ENST00000509793.1_Silent_p.S932S	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	974	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ATAGTGACTCTGAATGTCCCC	0.438																																						uc003hzy.3																			0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2920-2922)TCT>TCC		epidermal growth factor precursor	Sulindac(DB00605)						166.0	142.0	150.0					4																	110915953		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110915953T>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2922T>C	4.37:g.110915953T>C						EGF_uc011cfu.1_Silent_p.S932S|EGF_uc011cfv.1_Silent_p.S933S|EGF_uc010imk.2_Silent_p.S122S	p.S974S	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	20	3374	+		Hepatocellular(203;0.0893)	974			EGF-like 9.|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.2922T>C	CCDS3689.1																																																																																				0.438	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		
PRDM9	56979	broad.mit.edu	37	5	23522495	23522495	+	Silent	SNP	G	G	A	rs201252353		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:23522495G>A	ENST00000296682.3	+	7	773	c.591G>A	c.(589-591)ccG>ccA	p.P197P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	197					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCAGCGAGCCGCAGGATGATG	0.443										HNSCC(3;0.000094)			G|||	1	0.000199681	0.0	0.0	5008	,	,		19493	0.001		0.0	False		,,,				2504	0.0					uc003jgo.2																			0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(589-591)CCG>CCA		PR domain containing 9		G		0,4020		0,0,2010	130.0	141.0	137.0		591	-4.3	0.9	5		137	1,8383		0,1,4191	no	coding-synonymous	PRDM9	NM_020227.2		0,1,6201	AA,AG,GG		0.0119,0.0,0.0081		197/895	23522495	1,12403	2010	4192	6202	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522495G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.591G>A	5.37:g.23522495G>A		HNSCC(3;0.000094)					p.P197P	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			7	773	+			197					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.591G>A	CCDS43307.1																																																																																				0.443	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
NDUFAF2	91942	broad.mit.edu	37	5	60368982	60368982	+	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:60368982A>G	ENST00000296597.5	+	2	285	c.158A>G	c.(157-159)gAa>gGa	p.E53G	NDUFAF2_ENST00000512623.1_3'UTR|NDUFAF2_ENST00000511107.1_Intron	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	53					negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				AGAATTGTAGAAGCAGCAAAT	0.323																																						uc003jsp.3																			0					0						c.(157-159)GAA>GGA		NADH dehydrogenase (ubiquinone) 1 alpha							100.0	113.0	109.0					5																	60368982		2203	4297	6500	SO:0001583	missense	91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60368982A>G	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.158A>G	5.37:g.60368982A>G	ENSP00000296597:p.Glu53Gly					NDUFAF2_uc003jso.3_Intron	p.E53G	NM_174889	NP_777549	Q8N183	MIMIT_HUMAN			2	285	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)	53					A8K5I1	Missense_Mutation	SNP	ENST00000296597.5	37	c.158A>G	CCDS3979.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.27|17.27	3.347743|3.347743	0.61183|0.61183	.|.	.|.	ENSG00000164182|ENSG00000164182	ENST00000296597|ENST00000502658	T|.	0.47528|.	0.84|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.094256|.	0.64402|.	D|.	0.000001|.	D|D	0.84329|0.84329	0.5448|0.5448	M|M	0.93016|0.93016	3.37|3.37	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.88086|0.88086	0.2810|0.2810	10|5	0.48119|.	T|.	0.1|.	.|.	13.3138|13.3138	0.60394|0.60394	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	53|.	Q8N183|.	MIMIT_HUMAN|.	G|E	53|27	ENSP00000296597:E53G|.	ENSP00000296597:E53G|.	E|K	+|+	2|1	0|0	NDUFAF2|NDUFAF2	60404739|60404739	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.501000|0.501000	0.33797|0.33797	5.147000|5.147000	0.64851|0.64851	2.174000|2.174000	0.68829|0.68829	0.528000|0.528000	0.53228|0.53228	GAA|AAG		0.323	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889	
PCDHA5	56143	broad.mit.edu	37	5	140202989	140202989	+	Silent	SNP	T	T	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:140202989T>A	ENST00000529859.1	+	1	1629	c.1629T>A	c.(1627-1629)ccT>ccA	p.P543P	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.P543P|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.P543P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	543	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)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGCCGCCTCTGGGCAGCA	0.701																																						uc003lhl.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(1627-1629)CCT>CCA		protocadherin alpha 5 isoform 1 precursor							47.0	54.0	52.0					5																	140202989		2199	4290	6489	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202989T>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1629T>A	5.37:g.140202989T>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.P543P|PCDHA5_uc003lhj.1_Silent_p.P543P	p.P543P	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1629	+			543			Extracellular (Potential).|Cadherin 5.		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.1629T>A	CCDS54917.1																																																																																				0.701	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
PCDHGA12	26025	broad.mit.edu	37	5	140810930	140810930	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:140810930C>T	ENST00000252085.3	+	1	746	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGACCGCGAAGAAAA	0.627																																						uc003lkt.1																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(604-606)CGC>TGC		protocadherin gamma subfamily A, 12 isoform 1							81.0	84.0	83.0					5																	140810930		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140810930C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.604C>T	5.37:g.140810930C>T	ENSP00000252085:p.Arg202Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.R202C	p.R202C	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	773	+			202			Extracellular (Potential).|Cadherin 2.		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.604C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	18.06	3.538981	0.65085	.	.	ENSG00000253159	ENST00000252085	T	0.01745	4.66	5.27	5.27	0.74061	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.25082	0.0609	H	0.99900	4.915	0.39064	D	0.960587	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.54728	-0.8250	9	0.87932	D	0	.	13.6454	0.62279	0.1547:0.8453:0.0:0.0	.	202;202	O60330-2;O60330	.;PCDGC_HUMAN	C	202	ENSP00000252085:R202C	ENSP00000252085:R202C	R	+	1	0	PCDHGA12	140791114	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	1.550000	0.36223	2.748000	0.94277	0.655000	0.94253	CGC		0.627	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
HAVCR1	26762	broad.mit.edu	37	5	156476070	156476070	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:156476070G>A	ENST00000339252.3	-	4	1292	c.760C>T	c.(760-762)Cca>Tca	p.P254S	HAVCR1_ENST00000522693.1_Missense_Mutation_p.P254S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P254S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P254S|HAVCR1_ENST00000544197.1_Missense_Mutation_p.P254S|HAVCR1_ENST00000517644.1_5'UTR	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	249					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGTACAATGGTGAGCTGGTG	0.478																																						uc010jij.1																			0				ovary(1)|skin(1)	2						c.(760-762)CCA>TCA		hepatitis A virus cellular receptor 1							233.0	228.0	230.0					5																	156476070		2032	4185	6217	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156476070G>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.760C>T	5.37:g.156476070G>A	ENSP00000344844:p.Pro254Ser					HAVCR1_uc011ddl.1_Missense_Mutation_p.P85S|HAVCR1_uc003lwi.2_Missense_Mutation_p.P254S	p.P254S	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	945	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	249			Extracellular (Potential).		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.760C>T	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	g	10.33	1.319430	0.23994	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197	T;T;T;T;T	0.15017	2.47;2.46;2.46;2.47;2.46	3.83	0.0696	0.14375	.	.	.	.	.	T	0.10165	0.0249	L	0.52905	1.665	0.09310	N	1	P;P;P	0.37330	0.59;0.59;0.59	B;B;B	0.30251	0.113;0.113;0.113	T	0.27536	-1.0071	9	0.07482	T	0.82	.	3.7209	0.08456	0.3168:0.186:0.4972:0.0	.	254;249;249	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	S	254	ENSP00000428524:P254S;ENSP00000427898:P254S;ENSP00000344844:P254S;ENSP00000403333:P254S;ENSP00000440258:P254S	ENSP00000344844:P254S	P	-	1	0	HAVCR1	156408648	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.439000	0.06897	-0.010000	0.14271	-0.119000	0.15052	CCA		0.478	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1		
SLIT3	6586	broad.mit.edu	37	5	168100307	168100307	+	Missense_Mutation	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:168100307T>C	ENST00000519560.1	-	33	4135	c.3716A>G	c.(3715-3717)cAc>cGc	p.H1239R	SLIT3_ENST00000332966.8_Missense_Mutation_p.H1246R|SLIT3_ENST00000404867.3_Missense_Mutation_p.H1239R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1239	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCACACTGTGAAACTGCCC	0.567																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			0				ovary(3)|skin(1)	4						c.(3715-3717)CAC>CGC		slit homolog 3 precursor							97.0	91.0	93.0					5																	168100307		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168100307T>C	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3716A>G	5.37:g.168100307T>C	ENSP00000430333:p.His1239Arg					SLIT3_uc010jjg.2_Missense_Mutation_p.H1246R	p.H1239R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		33	4136	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1239			Laminin G-like.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3716A>G	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.690111	0.88735	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.86769	-2.17;-2.17;-2.17	5.31	5.31	0.75309	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93281	0.7859	M	0.89904	3.07	0.80722	D	1	P	0.51449	0.945	P	0.56216	0.794	D	0.94605	0.7799	10	0.87932	D	0	.	15.2785	0.73760	0.0:0.0:0.0:1.0	.	1239	O75094	SLIT3_HUMAN	R	1239;1246;1239	ENSP00000430333:H1239R;ENSP00000332164:H1246R;ENSP00000384890:H1239R	ENSP00000332164:H1246R	H	-	2	0	SLIT3	168032885	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.913000	0.87471	1.999000	0.58509	0.459000	0.35465	CAC		0.567	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062	
BTBD9	114781	broad.mit.edu	37	6	38256182	38256182	+	Silent	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:38256182G>T	ENST00000481247.1	-	8	1471	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	BTBD9_ENST00000403056.1_Silent_p.V440V|BTBD9_ENST00000314100.6_Silent_p.V372V|BTBD9_ENST00000419706.2_Silent_p.V410V|BTBD9_ENST00000408958.1_Silent_p.V372V	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	440					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GGCTCCGACTGACTCCTTCAA	0.463																																						uc003ooa.3																			0					0						c.(1318-1320)GTC>GTA		BTB (POZ) domain containing 9 isoform a							108.0	112.0	110.0					6																	38256182		2188	4293	6481	SO:0001819	synonymous_variant	114781				cell adhesion			g.chr6:38256182G>T		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1320C>A	6.37:g.38256182G>T						BTBD9_uc003ony.3_Silent_p.V372V|BTBD9_uc010jwv.2_Silent_p.V401V|BTBD9_uc010jww.2_RNA|BTBD9_uc010jwx.2_Silent_p.V440V	p.V440V	NM_052893	NP_443125	Q96Q07	BTBD9_HUMAN			9	1896	-			440					Q494V9|Q494W1|Q96M00	Silent	SNP	ENST00000481247.1	37	c.1320C>A	CCDS47418.1																																																																																				0.463	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733	
SLC29A1	2030	broad.mit.edu	37	6	44198124	44198124	+	Silent	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:44198124T>C	ENST00000393841.1	+	7	986	c.495T>C	c.(493-495)gcT>gcC	p.A165A	SLC29A1_ENST00000371755.3_Silent_p.A165A|SLC29A1_ENST00000427851.2_Silent_p.A165A|SLC29A1_ENST00000371708.1_Silent_p.A165A|SLC29A1_ENST00000313248.7_Silent_p.A244A|SLC29A1_ENST00000371731.1_Silent_p.A165A|SLC29A1_ENST00000393844.1_Silent_p.A165A|SLC29A1_ENST00000371740.5_Silent_p.A165A|SLC29A1_ENST00000371713.1_Silent_p.A165A|SLC29A1_ENST00000371724.1_Silent_p.A165A|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	165					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TTGGTCTGGCTGGCCTTCTGC	0.627																																						uc003owu.1																			0				large_intestine(2)|skin(1)	3						c.(493-495)GCT>GCC		equilibrative nucleoside transporter 1	Troglitazone(DB00197)						66.0	65.0	65.0					6																	44198124		2203	4300	6503	SO:0001819	synonymous_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44198124T>C	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.495T>C	6.37:g.44198124T>C						SLC29A1_uc011dvp.1_3'UTR|SLC29A1_uc003owv.1_Silent_p.A165A|SLC29A1_uc003oww.1_Silent_p.A244A|SLC29A1_uc011dvq.1_3'UTR|SLC29A1_uc003owx.1_Silent_p.A165A|SLC29A1_uc003owy.1_Silent_p.A165A|SLC29A1_uc003owz.1_Silent_p.A165A	p.A165A	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	824	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		165			Cytoplasmic (Potential).		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	c.495T>C	CCDS4908.1																																																																																				0.627	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1		
IMPG1	3617	broad.mit.edu	37	6	76744406	76744406	+	Missense_Mutation	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:76744406T>C	ENST00000369950.3	-	3	589	c.400A>G	c.(400-402)Acc>Gcc	p.T134A	IMPG1_ENST00000369963.3_Missense_Mutation_p.T56A	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGGCAGAAGGTCTCCTGCTGG	0.498																																					Pancreas(37;839 1141 2599 26037)	uc003pik.1																			0				ovary(2)|skin(1)	3						c.(400-402)ACC>GCC		interphotoreceptor matrix proteoglycan 1							115.0	103.0	107.0					6																	76744406		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76744406T>C	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.400A>G	6.37:g.76744406T>C	ENSP00000358966:p.Thr134Ala						p.T134A	NM_001563	NP_001554	Q17R60	IMPG1_HUMAN			3	530	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	134						Missense_Mutation	SNP	ENST00000369950.3	37	c.400A>G	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977710	0.53720	.	.	ENSG00000112706	ENST00000369950;ENST00000369963	T;T	0.78003	2.04;-1.14	5.77	5.77	0.91146	.	0.082974	0.52532	D	0.000076	T	0.62648	0.2445	L	0.58428	1.81	0.36612	D	0.875256	B	0.27791	0.189	B	0.31495	0.131	T	0.63382	-0.6650	9	.	.	.	.	11.2165	0.48830	0.1367:0.0:0.0:0.8633	.	134	Q17R60	IMPG1_HUMAN	A	134;56	ENSP00000358966:T134A;ENSP00000358980:T56A	.	T	-	1	0	IMPG1	76801126	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.768000	0.38511	2.197000	0.70478	0.455000	0.32223	ACC		0.498	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
IL22RA2	116379	broad.mit.edu	37	6	137482860	137482860	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:137482860G>A	ENST00000296980.2	-	2	327	c.27C>T	c.(25-27)ggC>ggT	p.G9G	IL22RA2_ENST00000349184.4_Silent_p.G9G|IL22RA2_ENST00000339602.3_Silent_p.G9G	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	9					cytokine-mediated signaling pathway (GO:0019221)|negative regulation of inflammatory response (GO:0050728)|regulation of tyrosine phosphorylation of Stat3 protein (GO:0042516)	cytosol (GO:0005829)|extracellular space (GO:0005615)	interleukin-22 binding (GO:0042017)|interleukin-22 receptor activity (GO:0042018)			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TGATGAGGAAGCCTAGAAAGC	0.413																																						uc003qhl.2																			0					0						c.(25-27)GGC>GGT		interleukin 22-binding protein isoform 1							124.0	96.0	106.0					6																	137482860		2203	4300	6503	SO:0001819	synonymous_variant	116379				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity	g.chr6:137482860G>A	AY044429	CCDS5182.1, CCDS5183.1, CCDS5184.1	6q24.1-q24.2	2008-02-05			ENSG00000164485	ENSG00000164485		"""Interleukins and interleukin receptors"""	14901	protein-coding gene	gene with protein product		606648				11481447, 11390454	Standard	NM_181309		Approved	CRF2-S1, IL-22BP	uc003qhl.3	Q969J5	OTTHUMG00000015655	ENST00000296980.2:c.27C>T	6.37:g.137482860G>A						IL22RA2_uc003qhm.2_Silent_p.G9G|IL22RA2_uc003qhn.2_Silent_p.G9G	p.G9G	NM_052962	NP_443194	Q969J5	I22R2_HUMAN		GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)	2	328	-	Colorectal(23;0.24)		9					Q08AH7|Q6UWM1|Q96A41|Q96QR0	Silent	SNP	ENST00000296980.2	37	c.27C>T	CCDS5182.1																																																																																				0.413	IL22RA2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042399.1		
EZR	7430	broad.mit.edu	37	6	159239121	159239121	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:159239121G>A	ENST00000367075.3	-	2	173	c.5C>T	c.(4-6)cCg>cTg	p.P2L	EZR_ENST00000392177.4_Missense_Mutation_p.P2L|EZR_ENST00000476189.1_5'UTR|EZR_ENST00000337147.7_Missense_Mutation_p.P2L|EZR-AS1_ENST00000451712.1_RNA	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	2	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TACTGGTTTCGGCATTTTCGG	0.577			T	ROS1	NSCLC																																	uc003qrt.3				Dom	yes		6	6q25.3	7430		ezrin			E					0				ovary(1)	1						c.(4-6)CCG>CTG		ezrin							78.0	76.0	76.0					6																	159239121		2203	4300	6503	SO:0001583	missense	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159239121G>A	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.5C>T	6.37:g.159239121G>A	ENSP00000356042:p.Pro2Leu					EZR_uc011efs.1_Missense_Mutation_p.P2L|EZR_uc003qru.3_Missense_Mutation_p.P2L	p.P2L	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	1	220	-		Breast(66;0.000776)|Ovarian(120;0.0303)	2			FERM.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	ENST00000367075.3	37	c.5C>T	CCDS5258.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303323	0.40795	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	T;T;T	0.77229	-1.08;-1.08;-1.08	3.56	1.69	0.24217	Band 4.1 domain (1);	0.253115	0.32416	N	0.006122	T	0.74321	0.3701	M	0.63428	1.95	0.45464	D	0.998433	D;D	0.69078	0.997;0.993	P;P	0.62813	0.907;0.524	T	0.74185	-0.3747	10	0.87932	D	0	.	5.1663	0.15086	0.1238:0.2113:0.6649:0.0	.	2;2	E7EQR4;P15311	.;EZRI_HUMAN	L	2	ENSP00000338934:P2L;ENSP00000356042:P2L;ENSP00000376016:P2L	ENSP00000338934:P2L	P	-	2	0	EZR	159159109	1.000000	0.71417	0.883000	0.34634	0.121000	0.20230	3.765000	0.55272	0.135000	0.18707	-0.350000	0.07774	CCG		0.577	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379	
DNAH11	8701	broad.mit.edu	37	7	21657267	21657267	+	Missense_Mutation	SNP	G	G	A	rs531283952		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:21657267G>A	ENST00000409508.3	+	23	4157	c.4126G>A	c.(4126-4128)Gtc>Atc	p.V1376I	DNAH11_ENST00000328843.6_Missense_Mutation_p.V1381I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1381	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1381F(1)|p.V1381I(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAAGTCCGCGTCTGGGATGC	0.483									Kartagener syndrome				G|||	1	0.000199681	0.0	0.0014	5008	,	,		19599	0.0		0.0	False		,,,				2504	0.0					uc003svc.2																			2	Substitution - Missense(2)		large_intestine(1)|kidney(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(4141-4143)GTC>ATC		dynein, axonemal, heavy chain 11							55.0	55.0	55.0					7																	21657267		1887	4106	5993	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21657267G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.4126G>A	7.37:g.21657267G>A	ENSP00000475939:p.Val1376Ile						p.V1381I	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			23	4172	+			1381			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.4141G>A		.	.	.	.	.	.	.	.	.	.	G	5.366	0.252759	0.10185	.	.	ENSG00000105877	ENST00000328843	T	0.60672	0.17	5.48	2.44	0.29823	Dynein heavy chain, domain-2 (1);	0.624196	0.14824	N	0.296281	T	0.41766	0.1173	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31336	-0.9947	9	0.49607	T	0.09	.	4.7959	0.13272	0.0847:0.1064:0.573:0.2359	.	1381	Q96DT5	DYH11_HUMAN	I	1381	ENSP00000330671:V1381I	ENSP00000330671:V1381I	V	+	1	0	DNAH11	21623792	0.000000	0.05858	0.055000	0.19348	0.034000	0.12701	0.206000	0.17375	0.705000	0.31890	-1.303000	0.01326	GTC		0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
CLK2P1	1197	broad.mit.edu	37	7	23625496	23625496	+	IGR	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:23625496T>C								TRA2A (53836 upstream) : CCDC126 (11501 downstream)																							CAGTCAAACATCTGGACACAG	0.473																																						uc003swk.2																			0					0						c.(1-3)ATG>GTG		SubName: Full=cDNA FLJ61616, highly similar to Dual specificity protein kinase CLK2 (EC 2.7.12.1); SubName: Full=CDC-like kinase 2, isoform CRA_c; SubName: Full=Putative uncharacterized protein CLK2;																																				SO:0001628	intergenic_variant	1197							g.chr7:23625496T>C																													7.37:g.23625496T>C							p.M1V	NR_002711						1	651	-									Missense_Mutation	SNP		37	c.1A>G																																																																																				0	0.473								
CALN1	83698	broad.mit.edu	37	7	71275406	71275406	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:71275406C>T	ENST00000329008.5	-	5	745	c.447G>A	c.(445-447)acG>acA	p.T149T	CALN1_ENST00000395276.2_Silent_p.T149T|CALN1_ENST00000412588.1_Silent_p.T191T|CALN1_ENST00000405452.2_Silent_p.T149T|CALN1_ENST00000395275.2_Silent_p.T191T|CALN1_ENST00000431984.1_Silent_p.T149T	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)	p.T149T(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463																																						uc003twa.3																			1	Substitution - coding silent(1)		large_intestine(1)	skin(1)	1						c.(445-447)ACG>ACA		calneuron 1 isoform 2							200.0	162.0	175.0					7																	71275406		2203	4300	6503	SO:0001819	synonymous_variant	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71275406C>T	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.447G>A	7.37:g.71275406C>T						CALN1_uc003twb.3_Silent_p.T191T|CALN1_uc003twc.3_Silent_p.T149T	p.T149T	NM_001017440	NP_001017440	Q9BXU9	CABP8_HUMAN			5	974	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	149			Cytoplasmic (Potential).		J3KQA7	Silent	SNP	ENST00000329008.5	37	c.447G>A	CCDS5541.1																																																																																				0.463	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468	
PMPCB	9512	broad.mit.edu	37	7	102937947	102937947	+	Missense_Mutation	SNP	C	C	A	rs372942056		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:102937947C>A	ENST00000249269.4	+	1	79	c.41C>A	c.(40-42)gCg>gAg	p.A14E	PMPCB_ENST00000428154.1_Missense_Mutation_p.A14E|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	14					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATCCGCGGCGCGGCGGCGG	0.652											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003vbl.2																			0				ovary(4)	4						c.(40-42)GCG>GAG		mitochondrial processing peptidase beta subunit							32.0	38.0	36.0					7																	102937947		2202	4299	6501	SO:0001583	missense	9512				proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr7:102937947C>A	AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.41C>A	7.37:g.102937947C>A	ENSP00000249269:p.Ala14Glu		OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1370	PMPCB_uc010liu.1_Missense_Mutation_p.A14E|PMPCB_uc003vbk.1_Missense_Mutation_p.A14E|PMPCB_uc003vbm.2_5'UTR|PMPCB_uc010liv.2_5'UTR|PMPCB_uc010liw.2_5'UTR|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank	p.A14E	NM_004279	NP_004270	O75439	MPPB_HUMAN			1	75	+			14					O60416|Q96FV4	Missense_Mutation	SNP	ENST00000249269.4	37	c.41C>A	CCDS5730.1	.	.	.	.	.	.	.	.	.	.	.	15.03	2.712162	0.48517	.	.	ENSG00000105819	ENST00000249269;ENST00000428154	T;T	0.11385	2.79;2.78	5.31	-2.41	0.06562	.	0.585491	0.17808	N	0.161313	T	0.04407	0.0121	N	0.08118	0	0.20638	N	0.999874	B;B;B	0.20368	0.026;0.026;0.044	B;B;B	0.25506	0.027;0.027;0.061	T	0.32348	-0.9910	10	0.46703	T	0.11	.	5.0101	0.14308	0.0:0.3278:0.2696:0.4026	.	14;14;14	B3KM34;O75439;G3V0E4	.;MPPB_HUMAN;.	E	14	ENSP00000249269:A14E;ENSP00000390035:A14E	ENSP00000249269:A14E	A	+	2	0	PMPCB	102725183	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.562000	0.02156	-0.247000	0.09597	-0.827000	0.03088	GCG		0.652	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347913.1	NM_004279	
WEE2	494551	broad.mit.edu	37	7	141429401	141429401	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:141429401G>A	ENST00000397541.2	+	11	2012	c.1606G>A	c.(1606-1608)Ggg>Agg	p.G536R	WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	536					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGGGGTCTCTGGGACCCACAC	0.522																																						uc003vwn.2																			0				ovary(1)|stomach(1)	2						c.(1606-1608)GGG>AGG		WEE1 homolog 2							86.0	85.0	85.0					7																	141429401		1876	4120	5996	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141429401G>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1606G>A	7.37:g.141429401G>A	ENSP00000380675:p.Gly536Arg					FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.G536R	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			11	2012	+	Melanoma(164;0.0171)		536						Missense_Mutation	SNP	ENST00000397541.2	37	c.1606G>A	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	G	4.243	0.044070	0.08196	.	.	ENSG00000214102	ENST00000397541	T	0.55413	0.52	5.53	2.69	0.31865	Protein kinase-like domain (1);	0.843397	0.10072	U	0.719636	T	0.35364	0.0929	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.15484	0.013	T	0.27773	-1.0064	10	0.14252	T	0.57	.	6.9385	0.24481	0.1479:0.2681:0.5839:0.0	.	536	P0C1S8	WEE2_HUMAN	R	536	ENSP00000380675:G536R	ENSP00000380675:G536R	G	+	1	0	WEE2	141075870	0.002000	0.14202	0.000000	0.03702	0.225000	0.24961	1.155000	0.31700	0.358000	0.24211	-0.137000	0.14449	GGG		0.522	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558	
GIMAP8	155038	broad.mit.edu	37	7	150171495	150171495	+	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:150171495A>G	ENST00000307271.3	+	4	1652	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	360	AIG1-type G 2.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGAGTACATGATCATACTTCT	0.403																																						uc003whj.2																			0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1078-1080)ATC>GTC		GTPase, IMAP family member 8							100.0	107.0	105.0					7																	150171495		2203	4300	6503	SO:0001583	missense	155038					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	g.chr7:150171495A>G	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1078A>G	7.37:g.150171495A>G	ENSP00000305107:p.Ile360Val						p.I360V	NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)	4	1408	+			360						Missense_Mutation	SNP	ENST00000307271.3	37	c.1078A>G	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	A	5.623	0.299603	0.10622	.	.	ENSG00000171115	ENST00000307271	T	0.08807	3.05	4.47	-1.44	0.08856	AIG1 (1);	0.788769	0.10792	N	0.633673	T	0.05868	0.0153	L	0.41027	1.25	0.09310	N	1	B	0.19817	0.039	B	0.19946	0.027	T	0.44314	-0.9336	10	0.20519	T	0.43	.	4.004	0.09592	0.562:0.0:0.1061:0.3319	.	360	Q8ND71	GIMA8_HUMAN	V	360	ENSP00000305107:I360V	ENSP00000305107:I360V	I	+	1	0	GIMAP8	149802428	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.317000	0.08060	-0.043000	0.13513	-1.181000	0.01715	ATC		0.403	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571	
GIMAP1	170575	broad.mit.edu	37	7	150417944	150417944	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:150417944C>T	ENST00000307194.5	+	3	992	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	284					B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGGGGGGCGCGCTCCTGT	0.687																																						uc003whq.2																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(850-852)GGC>GGT		GTPase, IMAP family member 1							9.0	10.0	10.0					7																	150417944		2000	4017	6017	SO:0001819	synonymous_variant	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150417944C>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.852C>T	7.37:g.150417944C>T						GIMAP1_uc003whp.2_Silent_p.G292G	p.G284G	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	939	+			284			Helical; Anchor for type IV membrane protein; (Potential).		B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.852C>T	CCDS5906.1																																																																																				0.687	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759	
PTDSS1	9791	broad.mit.edu	37	8	97296348	97296348	+	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr8:97296348C>G	ENST00000517309.1	+	3	609	c.283C>G	c.(283-285)Cga>Gga	p.R95G	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Intron	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	95					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCGTTCACTCGACCTCATCC	0.353																																						uc003yht.1																			0				ovary(1)	1						c.(283-285)CGA>GGA		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						156.0	158.0	157.0					8																	97296348		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97296348C>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.283C>G	8.37:g.97296348C>G	ENSP00000430548:p.Arg95Gly					PTDSS1_uc003yhu.1_Intron	p.R95G	NM_014754	NP_055569	P48651	PTSS1_HUMAN			3	385	+	Breast(36;6.18e-05)		95					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.283C>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606022	0.66445	.	.	ENSG00000156471	ENST00000517309	T	0.60299	0.2	5.16	3.24	0.37175	.	0.000000	0.85682	D	0.000000	T	0.76622	0.4013	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78735	-0.2088	10	0.87932	D	0	-6.5217	12.3532	0.55161	0.3274:0.6726:0.0:0.0	.	95	P48651	PTSS1_HUMAN	G	95	ENSP00000430548:R95G	ENSP00000430548:R95G	R	+	1	2	PTDSS1	97365524	0.944000	0.32072	0.870000	0.34147	0.980000	0.70556	2.050000	0.41297	0.465000	0.27167	0.603000	0.83216	CGA		0.353	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2		
HSD17B3	3293	broad.mit.edu	37	9	99064323	99064323	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr9:99064323C>T	ENST00000375263.3	-	1	111	c.64G>A	c.(64-66)Gcg>Acg	p.A22T	HSD17B3_ENST00000375262.2_Missense_Mutation_p.A22T	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	22					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				ACGCACTTCGCCAGGCAGGCC	0.547																																						uc004awa.1																			0					0						c.(64-66)GCG>ACG		estradiol 17 beta-dehydrogenase 3	NADH(DB00157)						108.0	96.0	100.0					9																	99064323		2203	4300	6503	SO:0001583	missense	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:99064323C>T		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.64G>A	9.37:g.99064323C>T	ENSP00000364412:p.Ala22Thr					HSD17B3_uc010msc.1_Missense_Mutation_p.A22T	p.A22T	NM_000197	NP_000188	P37058	DHB3_HUMAN			1	112	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	22					Q5U0Q6	Missense_Mutation	SNP	ENST00000375263.3	37	c.64G>A	CCDS6716.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536870	0.45176	.	.	ENSG00000130948	ENST00000375263;ENST00000375262	D;D	0.85171	-1.95;-1.94	4.79	1.77	0.24775	.	0.451091	0.22692	N	0.056806	T	0.69522	0.3120	N	0.22421	0.69	0.09310	N	0.99999	B;B	0.15141	0.012;0.012	B;B	0.14023	0.01;0.006	T	0.52003	-0.8633	10	0.23302	T	0.38	-15.1646	4.3448	0.11127	0.0:0.6084:0.1891:0.2025	.	22;22	Q5U0Q6;P37058	.;DHB3_HUMAN	T	22	ENSP00000364412:A22T;ENSP00000364411:A22T	ENSP00000364411:A22T	A	-	1	0	HSD17B3	98104144	0.037000	0.19845	0.714000	0.30535	0.971000	0.66376	-0.282000	0.08445	0.731000	0.32448	0.655000	0.94253	GCG		0.547	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1	NM_000197	
UCK1	83549	broad.mit.edu	37	9	134400596	134400596	+	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr9:134400596A>G	ENST00000372215.4	-	7	758	c.665T>C	c.(664-666)cTg>cCg	p.L222P	UCK1_ENST00000459858.1_5'Flank|RP11-334J6.6_ENST00000415423.1_RNA|UCK1_ENST00000372210.3_Missense_Mutation_p.L213P|UCK1_ENST00000372211.3_Missense_Mutation_p.L227P|UCK1_ENST00000372208.3_Silent_p.P190P	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	222					CTP salvage (GO:0044211)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CTGCACGATCAGGTTGATGGC	0.597																																					Melanoma(42;523 1129 28385 43975 48113)	uc004cay.2																			0					0						c.(664-666)CTG>CCG		uridine-cytidine kinase 1 isoform a							91.0	77.0	82.0					9																	134400596		2203	4300	6503	SO:0001583	missense	83549				pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity	g.chr9:134400596A>G	AF237290	CCDS6944.1, CCDS48046.1, CCDS59151.1, CCDS59152.1	9q34.1	2008-02-05			ENSG00000130717	ENSG00000130717	2.7.1.48		14859	protein-coding gene	gene with protein product		609328				11306702	Standard	NM_031432		Approved	URK1, FLJ12255	uc031tfj.1	Q9HA47	OTTHUMG00000020823	ENST00000372215.4:c.665T>C	9.37:g.134400596A>G	ENSP00000361289:p.Leu222Pro					UCK1_uc010mzk.2_Missense_Mutation_p.L213P|UCK1_uc004cba.2_Silent_p.P190P|UCK1_uc004caz.2_RNA	p.L222P	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)	7	766	-			222					Q5JT09|Q5JT10|Q5JT12|Q5JT13|Q6IA74|Q96BJ0	Missense_Mutation	SNP	ENST00000372215.4	37	c.665T>C	CCDS6944.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525852	0.85600	.	.	ENSG00000130717	ENST00000372215;ENST00000372211;ENST00000372210	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.78898	0.4356	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80430	-0.1386	7	.	.	.	-29.9384	14.559	0.68123	1.0:0.0:0.0:0.0	.	213;222	Q5JT10;Q9HA47	.;UCK1_HUMAN	P	222;227;213	.	.	L	-	2	0	UCK1	133390417	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	8.948000	0.93006	2.045000	0.60652	0.454000	0.30748	CTG		0.597	UCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054726.1	NM_031432	
SHROOM2	357	broad.mit.edu	37	X	9905429	9905429	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:9905429C>T	ENST00000380913.3	+	7	3933	c.3843C>T	c.(3841-3843)ccC>ccT	p.P1281P	SHROOM2_ENST00000418909.2_Silent_p.P116P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1281					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CGGCTGAGCCCCAGCCCCTGG	0.642																																						uc004csu.1																			0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3841-3843)CCC>CCT		apical protein of Xenopus-like							19.0	18.0	18.0					X																	9905429		2197	4296	6493	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9905429C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3843C>T	X.37:g.9905429C>T						SHROOM2_uc004csv.2_Silent_p.P116P|SHROOM2_uc011mic.1_Silent_p.P116P|SHROOM2_uc004csw.1_Silent_p.P116P	p.P1281P	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			7	3933	+		Hepatocellular(5;0.000888)	1281					B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.3843C>T	CCDS14135.1																																																																																				0.642	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649	
SRPX	8406	broad.mit.edu	37	X	38009054	38009054	+	Silent	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:38009054A>G	ENST00000378533.3	-	10	1411	c.1305T>C	c.(1303-1305)ccT>ccC	p.P435P	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_Silent_p.P415P|SRPX_ENST00000343800.6_Silent_p.P422P|SRPX_ENST00000538295.1_3'UTR|SRPX_ENST00000432886.2_Silent_p.P376P|SRPX_ENST00000479015.1_5'UTR	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	435					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ACAGGGCCACAGGCATCACCA	0.502																																						uc004ddy.1																			0					0						c.(1303-1305)CCT>CCC		sushi-repeat-containing protein, X-linked							164.0	110.0	129.0					X																	38009054		2202	4300	6502	SO:0001819	synonymous_variant	8406				cell adhesion	cell surface|membrane		g.chrX:38009054A>G	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.1305T>C	X.37:g.38009054A>G						SRPX_uc004ddz.1_Silent_p.P415P|SRPX_uc011mkh.1_Silent_p.P376P|SRPX_uc011mki.1_3'UTR	p.P435P	NM_006307	NP_006298	P78539	SRPX_HUMAN			10	1391	-			435					A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	ENST00000378533.3	37	c.1305T>C	CCDS14245.1																																																																																				0.502	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307	
WDR45	11152	broad.mit.edu	37	X	48935362	48935362	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:48935362G>A	ENST00000376372.3	-	4	356	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	WDR45_ENST00000553851.1_Intron|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000465431.1_Intron|WDR45_ENST00000485908.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.R59C|WDR45_ENST00000356463.3_Missense_Mutation_p.R59C|WDR45_ENST00000396681.4_Missense_Mutation_p.R59C|WDR45_ENST00000473974.1_Missense_Mutation_p.R59C|WDR45_ENST00000376368.2_Missense_Mutation_p.R59C	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	59					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AGGTTGGAGCGGTGCAGCATC	0.607																																						uc004dmk.1																			0				ovary(1)	1						c.(175-177)CGC>TGC		WD repeat domain 45 isoform 2							55.0	33.0	41.0					X																	48935362		2200	4297	6497	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48935362G>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.175C>T	X.37:g.48935362G>A	ENSP00000365551:p.Arg59Cys					PRAF2_uc011mmt.1_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.R9C|WDR45_uc004dml.1_Missense_Mutation_p.R59C|WDR45_uc004dmm.1_Intron|WDR45_uc010nim.1_Missense_Mutation_p.R59C|WDR45_uc004dmn.1_5'UTR|WDR45_uc004dmo.1_Missense_Mutation_p.R81C|WDR45_uc004dmp.1_Missense_Mutation_p.R59C|WDR45_uc011mmu.1_Missense_Mutation_p.R59C	p.R59C	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN			4	347	-			59					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.175C>T	CCDS35250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.29|14.29	2.491564|2.491564	0.44249|0.44249	.|.	.|.	ENSG00000196998|ENSG00000196998	ENST00000367375|ENST00000376372;ENST00000322995;ENST00000356463;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000474053;ENST00000419567;ENST00000465382	.|T;T;T;T;T;T;T;T;T;T	.|0.80123	.|0.56;0.56;0.56;0.56;0.56;0.56;-1.34;0.56;0.56;0.56	3.61|3.61	3.61|3.61	0.41365|0.41365	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.73938|0.73938	0.3651|0.3651	L|L	0.53617|0.53617	1.68|1.68	0.80722|0.80722	D|D	1|1	.|P;B;B;B;B	.|0.47034	.|0.889;0.239;0.351;0.107;0.371	.|B;B;B;B;B	.|0.39971	.|0.315;0.064;0.086;0.059;0.133	T|T	0.77713|0.77713	-0.2485|-0.2485	5|10	.|0.87932	.|D	.|0	-12.4177|-12.4177	9.5521|9.5521	0.39317|0.39317	0.0:0.0:0.7897:0.2103|0.0:0.0:0.7897:0.2103	.|.	.|59;59;59;59;59	.|B4DVH6;C9J471;Q9Y484-2;Q9Y484-3;Q9Y484	.|.;.;.;.;WIPI4_HUMAN	L|C	15|59	.|ENSP00000365551:R59C;ENSP00000365543:R59C;ENSP00000348848:R59C;ENSP00000417211:R59C;ENSP00000365546:R59C;ENSP00000379913:R59C;ENSP00000418466:R59C;ENSP00000420728:R59C;ENSP00000393640:R59C;ENSP00000420534:R59C	.|ENSP00000365543:R59C	P|R	-|-	2|1	0|0	WDR45|WDR45	48822306|48822306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.711000|5.711000	0.68400|0.68400	2.057000|2.057000	0.61298|0.61298	0.529000|0.529000	0.55759|0.55759	CCG|CGC		0.607	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075	
OPN1LW	5956	broad.mit.edu	37	X	153416186	153416186	+	Silent	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:153416186T>C	ENST00000369951.4	+	2	231	c.171T>C	c.(169-171)agT>agC	p.S57S	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	57					phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTCACCAGTGTCTGGATGA	0.587																																						uc004fjz.3																			0					0						c.(169-171)AGT>AGC		opsin 1 (cone pigments), long-wave-sensitive							115.0	92.0	100.0					X																	153416186		2196	4273	6469	SO:0001819	synonymous_variant	5956				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chrX:153416186T>C	Z68193	CCDS14742.1	Xq28	2013-01-08	2008-04-16		ENSG00000102076	ENSG00000102076		"""GPCR / Class A : Opsin receptors"""	9936	protein-coding gene	gene with protein product	"""cone dystrophy 5 (X-linked)"""	300822	"""color blindness, protan"", ""red cone photoreceptor pigment"""	CBBM, RCP, CBP			Standard	NM_020061		Approved	COD5	uc004fjz.4	P04000	OTTHUMG00000034295	ENST00000369951.4:c.171T>C	X.37:g.153416186T>C							p.S57S	NM_020061	NP_064445	P04000	OPSR_HUMAN			2	204	+	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		57			Helical; Name=1; (Potential).			Silent	SNP	ENST00000369951.4	37	c.171T>C	CCDS14742.1																																																																																				0.587	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	NM_020061	
RPL10	6134	broad.mit.edu	37	X	153628824	153628824	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:153628824G>A	ENST00000369817.2	+	7	925	c.349G>A	c.(349-351)Ggt>Agt	p.G117S	RPL10_ENST00000424325.2_Missense_Mutation_p.G117S|SNORA70_ENST00000384436.1_RNA|RPL10_ENST00000406022.2_Missense_Mutation_p.G66S			P27635	RL10_HUMAN	ribosomal protein L10	117					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGCATGCGAGGTGCCTTTGG	0.527																																						uc004fkm.2																			0					0						c.(349-351)GGT>AGT		ribosomal protein L10							83.0	85.0	85.0					X																	153628824		2203	4296	6499	SO:0001583	missense	6134				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome	g.chrX:153628824G>A	AB007170	CCDS14746.1, CCDS76059.1	Xq28	2011-04-06			ENSG00000147403	ENSG00000147403		"""L ribosomal proteins"""	10298	protein-coding gene	gene with protein product		312173				9582194	Standard	NM_006013		Approved	NOV, QM, DXS648E, DXS648, FLJ23544, L10	uc004fkm.2	P27635	OTTHUMG00000033189	ENST00000369817.2:c.349G>A	X.37:g.153628824G>A	ENSP00000358832:p.Gly117Ser					uc010nuv.1_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.G117S|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.G42S	p.G117S	NM_006013	NP_006004	P27635	RL10_HUMAN			6	537	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		117					A3KQT0|D3DWW6|Q16470|Q2HXT7|Q53FH7|Q6FGN8|Q8TDA5	Missense_Mutation	SNP	ENST00000369817.2	37	c.349G>A	CCDS14746.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476274	0.84640	.	.	ENSG00000147403	ENST00000369817;ENST00000424325;ENST00000436473;ENST00000344746;ENST00000406022;ENST00000427682;ENST00000428169	T;T;T;T	0.73152	-0.7;-0.7;-0.7;-0.72	4.82	4.82	0.62117	Ribosomal protein L10e/L16 (2);Ribosomal protein L10e, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.87669	0.6235	H	0.96048	3.76	0.80722	D	1	P;P	0.46706	0.883;0.834	P;P	0.59595	0.814;0.86	D	0.91334	0.5092	10	0.87932	D	0	-17.1559	14.4069	0.67088	0.0:0.0:1.0:0.0	.	66;117	F8W7C6;P27635	.;RL10_HUMAN	S	117;117;117;117;66;27;27	ENSP00000358832:G117S;ENSP00000413436:G117S;ENSP00000341730:G117S;ENSP00000385621:G66S	ENSP00000341730:G117S	G	+	1	0	RPL10	153282018	1.000000	0.71417	0.922000	0.36590	0.520000	0.34377	8.853000	0.92222	1.977000	0.57605	0.513000	0.50165	GGT		0.527	RPL10-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127774.5	NM_006013	
VAMP7	6845	broad.mit.edu	37	X	155130194	155130194	+	Missense_Mutation	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:155130194G>T	ENST00000286448.6	+	5	541	c.376G>T	c.(376-378)Gtg>Ttg	p.V126L	VAMP7_ENST00000262640.6_Missense_Mutation_p.V126L|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Missense_Mutation_p.V85L	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	126	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTAGACAAAGTGATGGAGAC	0.358																																						uc004fnr.2																			0					0						c.(376-378)GTG>TTG		vesicle-associated membrane protein 7 isoform 1							164.0	147.0	152.0					X																	155130194		2203	4296	6499	SO:0001583	missense	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155130194G>T	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.376G>T	X.37:g.155130194G>T	ENSP00000286448:p.Val126Leu					VAMP7_uc004fnt.2_Missense_Mutation_p.V85L|VAMP7_uc011naa.1_Missense_Mutation_p.V87L|VAMP7_uc011nab.1_Missense_Mutation_p.V25L|VAMP7_uc004fns.2_Missense_Mutation_p.V126L|VAMP7_uc011nac.1_Missense_Mutation_p.V59L	p.V126L	NM_005638	NP_005629	P51809	VAMP7_HUMAN			5	550	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		126			v-SNARE coiled-coil homology.|Cytoplasmic (Potential).		Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	c.376G>T	CCDS14770.4	.	.	.	.	.	.	.	.	.	.	G	7.918	0.737930	0.15574	.	.	ENSG00000124333	ENST00000286448;ENST00000262640;ENST00000460621	T;T;T	0.38401	1.14;2.44;1.14	3.14	3.14	0.36123	Synaptobrevin (2);	0.187716	0.45361	D	0.000370	T	0.15392	0.0371	.	.	.	0.09310	N	1	B;B;B;B;B	0.20052	0.001;0.001;0.002;0.041;0.0	B;B;B;B;B	0.18561	0.007;0.006;0.004;0.022;0.007	T	0.22487	-1.0215	9	0.02654	T	1	.	11.3534	0.49602	0.0:0.0:1.0:0.0	.	59;87;85;126;126	B4DE96;B4DIH9;P51809-3;P51809-2;P51809	.;.;.;.;VAMP7_HUMAN	L	126;126;85	ENSP00000286448:V126L;ENSP00000262640:V126L;ENSP00000427822:V85L	ENSP00000262640:V126L	V	+	1	0	VAMP7	154783388	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.658000	0.37376	1.590000	0.49995	0.421000	0.28195	GTG		0.358	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638	
