#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
PRAMEF2	65122	broad.mit.edu	37	1	12919829	12919829	+	Missense_Mutation	SNP	C	C	T	rs374389020	byFrequency	TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:12919829C>T	ENST00000240189.2	+	3	656	c.569C>T	c.(568-570)aCg>aTg	p.T190M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	190					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.T190M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTATCTAACGCCAATTAAA	0.398													.|||	3	0.000599042	0.0	0.0	5008	,	,		25327	0.0		0.0	False		,,,				2504	0.0031					uc001aum.1																			1	Substitution - Missense(1)		kidney(1)		0						c.(568-570)ACG>ATG		PRAME family member 2		C	MET/THR	0,4404		0,0,2202	162.0	177.0	172.0		569	-0.9	0.0	1		172	1,8587	1.2+/-3.3	0,1,4293	no	missense	PRAMEF2	NM_023014.1	81	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	190/475	12919829	1,12991	2202	4294	6496	SO:0001583	missense	65122							g.chr1:12919829C>T		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.569C>T	1.37:g.12919829C>T	ENSP00000240189:p.Thr190Met						p.T190M	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	656	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	190						Missense_Mutation	SNP	ENST00000240189.2	37	c.569C>T	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.909161	0.00056	0.0	1.16E-4	ENSG00000120952	ENST00000240189	T	0.13901	2.55	0.842	-0.902	0.10537	.	1.724660	0.02998	N	0.147771	T	0.01940	0.0061	N	0.00289	-1.7	0.09310	N	1	P	0.36837	0.571	B	0.21360	0.034	T	0.33137	-0.9880	10	0.02654	T	1	.	3.084	0.06272	0.0:0.3627:0.0:0.6373	.	190	O60811	PRAM2_HUMAN	M	190	ENSP00000240189:T190M	ENSP00000240189:T190M	T	+	2	0	PRAMEF2	12842416	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.073000	0.14640	-0.260000	0.09418	0.194000	0.17425	ACG		0.398	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014	
ATP13A2	23400	broad.mit.edu	37	1	17318252	17318252	+	Missense_Mutation	SNP	C	C	T	rs371772922		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:17318252C>T	ENST00000326735.8	-	20	2261	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	ATP13A2_ENST00000341676.5_Missense_Mutation_p.R738H|ATP13A2_ENST00000452699.1_Missense_Mutation_p.R738H|RP1-37C10.3_ENST00000446261.1_RNA			Q9NQ11	AT132_HUMAN	ATPase type 13A2	743					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCGCGGATGCGGGTCCTTCG	0.622																																						uc001baa.2																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2227-2229)CGC>CAC		ATPase type 13A2 isoform 1		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	86.0	87.0	87.0		2213,2213,2228	-4.1	0.0	1		87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ATP13A2	NM_001141973.1,NM_001141974.1,NM_022089.2	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	738/1176,738/1159,743/1181	17318252	1,13005	2203	4300	6503	SO:0001583	missense	23400				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr1:17318252C>T	AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2228G>A	1.37:g.17318252C>T	ENSP00000327214:p.Arg743His					ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.2_Missense_Mutation_p.R738H|ATP13A2_uc001bac.2_Missense_Mutation_p.R738H	p.R743H	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	20	2418	-		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	743			Cytoplasmic (Potential).		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	c.2228G>A	CCDS175.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825467	0.32237	0.0	1.16E-4	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699;ENST00000503552	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	4.93	-4.14	0.03892	HAD-like domain (2);	1.302430	0.04325	N	0.351348	T	0.40909	0.1136	N	0.02296	-0.605	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.12837	0.008;0.003;0.005	T	0.27502	-1.0072	10	0.27082	T	0.32	-0.0553	12.8753	0.57988	0.0:0.5827:0.0:0.4173	.	738;738;743	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	H	743;738;738;213	ENSP00000327214:R743H;ENSP00000341115:R738H;ENSP00000413307:R738H;ENSP00000421126:R213H	ENSP00000327214:R743H	R	-	2	0	ATP13A2	17190839	0.000000	0.05858	0.007000	0.13788	0.539000	0.34962	-0.150000	0.10189	-0.838000	0.04218	-0.339000	0.08088	CGC		0.622	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1	NM_022089	
WDR78	79819	broad.mit.edu	37	1	67301450	67301450	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:67301450C>T	ENST00000371026.3	-	11	1647	c.1592G>A	c.(1591-1593)cGt>cAt	p.R531H	WDR78_ENST00000431318.1_Missense_Mutation_p.R277H	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	531					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTGATAAATACGTTCTGGCCA	0.368																																						uc001dcx.2																			0				ovary(2)	2						c.(1591-1593)CGT>CAT		WD repeat domain 78 isoform 1							78.0	81.0	80.0					1																	67301450		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67301450C>T	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1592G>A	1.37:g.67301450C>T	ENSP00000360065:p.Arg531His					WDR78_uc009waw.2_Missense_Mutation_p.R277H|WDR78_uc009wax.2_Intron	p.R531H	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			11	1648	-			531					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1592G>A	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063855	0.93898	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	D;D;D	0.92752	-3.1;-3.1;-3.1	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.112422	0.64402	D	0.000002	D	0.94135	0.8119	M	0.86178	2.8	0.58432	D	0.999996	D;D	0.56035	0.958;0.974	P;P	0.49922	0.584;0.626	D	0.94513	0.7720	10	0.66056	D	0.02	-8.602	19.5885	0.95498	0.0:1.0:0.0:0.0	.	277;531	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	H	531;277;297	ENSP00000360065:R531H;ENSP00000393182:R277H;ENSP00000433682:R297H	ENSP00000360065:R531H	R	-	2	0	WDR78	67074038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.810000	0.62598	2.633000	0.89246	0.644000	0.83932	CGT		0.368	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	
CELSR2	1952	broad.mit.edu	37	1	109795999	109795999	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:109795999G>A	ENST00000271332.3	+	1	3359	c.3298G>A	c.(3298-3300)Gtg>Atg	p.V1100M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1100	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATCATGAGCGTGCTGGTGTC	0.637																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			0				ovary(4)|lung(3)|skin(1)	8						c.(3298-3300)GTG>ATG		cadherin EGF LAG seven-pass G-type receptor 2							25.0	25.0	25.0					1																	109795999		2203	4299	6502	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795999G>A	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3298G>A	1.37:g.109795999G>A	ENSP00000271332:p.Val1100Met						p.V1100M	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	3359	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1100			Cadherin 9.|Extracellular (Potential).		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3298G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	22.6	4.304932	0.81247	.	.	ENSG00000143126	ENST00000271332	T	0.56941	0.43	4.92	4.92	0.64577	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.73814	0.3635	M	0.91196	3.185	0.43930	D	0.996583	D	0.69078	0.997	D	0.64144	0.922	T	0.80821	-0.1211	9	0.87932	D	0	.	18.3615	0.90376	0.0:0.0:1.0:0.0	.	1100	Q9HCU4	CELR2_HUMAN	M	1100	ENSP00000271332:V1100M	ENSP00000271332:V1100M	V	+	1	0	CELSR2	109597522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.125000	0.71627	2.561000	0.86390	0.650000	0.86243	GTG		0.637	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
HRNR	388697	broad.mit.edu	37	1	152191194	152191194	+	Missense_Mutation	SNP	C	C	G	rs370041563		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:152191194C>G	ENST00000368801.2	-	3	2986	c.2911G>C	c.(2911-2913)Gaa>Caa	p.E971Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	971					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E971K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGTTCGCTCCTAGAT	0.562																																						uc001ezt.1																			1	Substitution - Missense(1)		kidney(1)	skin(2)|ovary(1)	3						c.(2911-2913)GAA>CAA		hornerin							311.0	294.0	300.0					1																	152191194		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191194C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2911G>C	1.37:g.152191194C>G	ENSP00000357791:p.Glu971Gln						p.E971Q	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2987	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		971			11.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2911G>C	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630483	0.14322	.	.	ENSG00000197915	ENST00000368801	T	0.01584	4.75	4.11	-2.64	0.06114	.	.	.	.	.	T	0.00328	0.0010	N	0.14661	0.345	0.09310	N	1	B	0.19583	0.037	B	0.10450	0.005	T	0.38693	-0.9649	9	0.15952	T	0.53	.	5.02	0.14356	0.0:0.332:0.1667:0.5013	.	971	Q86YZ3	HORN_HUMAN	Q	971	ENSP00000357791:E971Q	ENSP00000357791:E971Q	E	-	1	0	HRNR	150457818	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.215000	0.02985	-0.661000	0.05345	0.556000	0.70494	GAA		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
CD5L	922	broad.mit.edu	37	1	157804375	157804375	+	Silent	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:157804375T>C	ENST00000368174.4	-	4	636	c.540A>G	c.(538-540)ggA>ggG	p.G180G	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	180	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCTCCCACATCCCAGCTGCC	0.587																																						uc001frk.3																			0				ovary(1)	1						c.(538-540)GGA>GGG		CD5 molecule-like precursor							94.0	86.0	89.0					1																	157804375		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804375T>C	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.540A>G	1.37:g.157804375T>C							p.G180G	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	683	-	all_hematologic(112;0.0378)		180			SRCR 2.		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.540A>G	CCDS1171.1																																																																																				0.587	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894	
CEP350	9857	broad.mit.edu	37	1	180063502	180063505	+	Frame_Shift_Del	DEL	GACA	GACA	-			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:180063502_180063505delGACA	ENST00000367607.3	+	34	8680_8683	c.8262_8265delGACA	c.(8260-8265)ctgacafs	p.LT2754fs	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2754					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						TCAGCTTACTGACAGACAGTTTAC	0.358																																						uc001gnt.2																			0				ovary(4)	4						c.(8260-8265)CTGACAfs		centrosome-associated protein 350																																				SO:0001589	frameshift_variant	9857					centrosome|nucleus|spindle		g.chr1:180063502_180063505delGACA	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.8262_8265delGACA	1.37:g.180063506_180063509delGACA	ENSP00000356579:p.Leu2754fs					CEP350_uc009wxl.2_Frame_Shift_Del_p.L2753fs|CEP350_uc001gnv.2_Frame_Shift_Del_p.L889fs|CEP350_uc001gnw.1_Frame_Shift_Del_p.L511fs|CEP350_uc001gnx.1_Frame_Shift_Del_p.L511fs	p.L2754fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			34	8645_8648	+			2754_2755					O75068|Q8TDK3|Q8WY20	Frame_Shift_Del	DEL	ENST00000367607.3	37	c.8262_8265delGACA	CCDS1336.1																																																																																				0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
MAT1A	4143	broad.mit.edu	37	10	82034790	82034790	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr10:82034790G>A	ENST00000372213.3	-	7	1194	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	312					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGCACTCTCCGGCAGAGCCCT	0.632																																						uc001kbw.2																			0					0						c.(934-936)CGG>TGG		methionine adenosyltransferase I, alpha	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)						22.0	26.0	25.0					10																	82034790		2180	4272	6452	SO:0001583	missense	4143				methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82034790G>A		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.934C>T	10.37:g.82034790G>A	ENSP00000361287:p.Arg312Trp						p.R312W	NM_000429	NP_000420	Q00266	METK1_HUMAN	Colorectal(32;0.229)		7	1189	-			312					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.934C>T	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102041	0.76983	.	.	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.97870	-4.58	4.99	4.99	0.66335	S-adenosylmethionine synthetase, C-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.098967	0.64402	D	0.000002	D	0.99064	0.9679	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99353	1.0915	10	0.87932	D	0	-32.5151	16.1234	0.81377	0.0:0.0:1.0:0.0	.	312	Q00266	METK1_HUMAN	W	312	ENSP00000361287:R312W	ENSP00000361280:R312W	R	-	1	2	MAT1A	82024770	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.348000	0.52209	2.484000	0.83849	0.563000	0.77884	CGG		0.632	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429	
PTEN	5728	broad.mit.edu	37	10	89692923	89692923	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr10:89692923G>A	ENST00000371953.3	+	5	1764	c.407G>A	c.(406-408)tGt>tAt	p.C136Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		C -> Y (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P3). {ECO:0000269|PubMed:9735393}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.C136Y(8)|p.C136F(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(2)|p.Y27fs*1(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.T131fs*42(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTAATGATATGTGCATATTTA	0.393		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		69	Whole gene deletion(37)|Substitution - Missense(13)|Deletion - Frameshift(10)|Unknown(5)|Insertion - Frameshift(2)|Deletion - In frame(1)|Complex - deletion inframe(1)	p.C136Y(7)|p.R55fs*1(4)|p.C136F(3)|p.C136fs*1(2)|p.C136R(2)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.C136_A137insGM(1)|p.C136W(1)|p.T131fs*42(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(14)|endometrium(10)|breast(8)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|meninges(1)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM983501	PTEN	M		c.(406-408)TGT>TAT		phosphatase and tensin homolog							123.0	117.0	119.0					10																	89692923		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692923G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.407G>A	10.37:g.89692923G>A	ENSP00000361021:p.Cys136Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.C136Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1438	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	136		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.407G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658698	0.88154	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98145	1.0438	9	.	.	.	-4.1412	18.7776	0.91918	0.0:0.0:1.0:0.0	.	136	P60484	PTEN_HUMAN	Y	136	ENSP00000361021:C136Y	.	C	+	2	0	PTEN	89682903	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	TGT		0.393	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
OR9G4	283189	broad.mit.edu	37	11	56510803	56510803	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr11:56510803C>A	ENST00000302957.3	-	1	484	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TATGTAGGAGCCAGCAACAAG	0.463																																						uc010rjo.1																			0				ovary(2)|skin(1)	3						c.(484-486)GGC>GTC		olfactory receptor, family 9, subfamily G,							87.0	91.0	90.0					11																	56510803		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510803C>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.485G>T	11.37:g.56510803C>A	ENSP00000307515:p.Gly162Val						p.G162V	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	485	-			162			Helical; Name=4; (Potential).		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.485G>T	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300202	0.40694	.	.	ENSG00000172457	ENST00000302957	T	0.36520	1.25	5.07	3.09	0.35607	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001140	T	0.47637	0.1456	L	0.52573	1.65	0.26998	N	0.96498	D	0.69078	0.997	D	0.64595	0.927	T	0.28364	-1.0046	10	0.44086	T	0.13	-16.3282	10.4574	0.44559	0.1357:0.6002:0.2641:0.0	.	162	Q8NGQ1	OR9G4_HUMAN	V	162	ENSP00000307515:G162V	ENSP00000307515:G162V	G	-	2	0	OR9G4	56267379	0.000000	0.05858	0.865000	0.33974	0.539000	0.34962	-0.249000	0.08842	1.341000	0.45600	0.643000	0.83706	GGC		0.463	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284	
TECTA	7007	broad.mit.edu	37	11	121028677	121028677	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr11:121028677G>A	ENST00000392793.1	+	14	4704	c.4433G>A	c.(4432-4434)gGc>gAc	p.G1478D	TECTA_ENST00000264037.2_Missense_Mutation_p.G1478D			O75443	TECTA_HUMAN	tectorin alpha	1478					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGGTGCGCGGCTGCTTCAGC	0.682																																						uc010rzo.1																			0				breast(6)|ovary(2)|skin(2)	10						c.(4432-4434)GGC>GAC		tectorin alpha precursor							40.0	37.0	38.0					11																	121028677		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028677G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4433G>A	11.37:g.121028677G>A	ENSP00000376543:p.Gly1478Asp						p.G1478D	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	13	4433	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1478						Missense_Mutation	SNP	ENST00000392793.1	37	c.4433G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	34	5.342107	0.95783	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.05081	3.5;3.5	5.69	5.69	0.88448	von Willebrand factor, type D domain (1);VWC out (1);	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	L	0.59912	1.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.00050	-1.2197	10	0.62326	D	0.03	.	19.8006	0.96506	0.0:0.0:1.0:0.0	.	1478	O75443	TECTA_HUMAN	D	1478	ENSP00000376543:G1478D;ENSP00000264037:G1478D	ENSP00000264037:G1478D	G	+	2	0	TECTA	120533887	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.508000	0.98000	2.687000	0.91594	0.462000	0.41574	GGC		0.682	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422	
LRIG3	121227	broad.mit.edu	37	12	59270251	59270251	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:59270251A>G	ENST00000320743.3	-	16	2957	c.2671T>C	c.(2671-2673)Ttc>Ctc	p.F891L	LRIG3_ENST00000379141.4_Missense_Mutation_p.F831L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	891					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGTGGTAAGAAAAATCCAGCA	0.418			T	ROS1	NSCLC																																	uc001sqr.2				Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					0				skin(3)|ovary(1)	4						c.(2671-2673)TTC>CTC		leucine-rich repeats and immunoglobulin-like							106.0	94.0	98.0					12																	59270251		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59270251A>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2671T>C	12.37:g.59270251A>G	ENSP00000326759:p.Phe891Leu					LRIG3_uc009zqh.2_Missense_Mutation_p.F831L|LRIG3_uc010ssh.1_RNA	p.F891L	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		16	2917	-			891					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.2671T>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.984182	0.53827	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.59906	0.23;0.24	5.01	5.01	0.66863	.	0.000000	0.38837	N	0.001544	T	0.46521	0.1397	L	0.31926	0.97	0.47994	D	0.999567	B;P	0.44090	0.0;0.826	B;B	0.39152	0.002;0.292	T	0.43669	-0.9377	9	.	.	.	.	15.4363	0.75149	1.0:0.0:0.0:0.0	.	831;891	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	L	831;891	ENSP00000368436:F831L;ENSP00000326759:F891L	.	F	-	1	0	LRIG3	57556518	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.081000	0.76844	2.185000	0.69588	0.528000	0.53228	TTC		0.418	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
LRIG3	121227	broad.mit.edu	37	12	59271192	59271192	+	Silent	SNP	A	A	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:59271192A>G	ENST00000320743.3	-	15	2812	c.2526T>C	c.(2524-2526)atT>atC	p.I842I	LRIG3_ENST00000379141.4_Silent_p.I782I	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	842					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGTGTTGGTAATGCTGCAAT	0.493			T	ROS1	NSCLC																																	uc001sqr.2				Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					0				skin(3)|ovary(1)	4						c.(2524-2526)ATT>ATC		leucine-rich repeats and immunoglobulin-like							171.0	105.0	127.0					12																	59271192		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59271192A>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2526T>C	12.37:g.59271192A>G						LRIG3_uc009zqh.2_Silent_p.I782I|LRIG3_uc010ssh.1_RNA	p.I842I	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		15	2772	-			842					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.2526T>C	CCDS8960.1																																																																																				0.493	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
PLBD2	196463	broad.mit.edu	37	12	113825637	113825637	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:113825637G>A	ENST00000280800.3	+	11	1559	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	PLBD2_ENST00000545182.2_Missense_Mutation_p.D478N	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	510					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGCCCGCTCCGACCTCAACCC	0.617																																						uc001tve.2																			0					0						c.(1528-1530)GAC>AAC		phospholipase B domain containing 2 isoform 1							187.0	182.0	184.0					12																	113825637		2203	4300	6503	SO:0001583	missense	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113825637G>A	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1528G>A	12.37:g.113825637G>A	ENSP00000280800:p.Asp510Asn					PLBD2_uc001tvf.2_Missense_Mutation_p.D478N	p.D510N	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN			11	1563	+			510					F5H5E2	Missense_Mutation	SNP	ENST00000280800.3	37	c.1528G>A	CCDS9168.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308375	0.95629	.	.	ENSG00000151176	ENST00000545182;ENST00000280800	T;T	0.42131	0.98;0.98	5.07	5.07	0.68467	.	0.095672	0.64402	D	0.000001	T	0.76090	0.3939	H	0.95224	3.64	0.50171	D	0.99985	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.84173	0.0435	10	0.87932	D	0	-54.5001	18.8433	0.92194	0.0:0.0:1.0:0.0	.	478;510	F5H5E2;Q8NHP8	.;PLBL2_HUMAN	N	478;510	ENSP00000443463:D478N;ENSP00000280800:D510N	ENSP00000280800:D510N	D	+	1	0	PLBD2	112310020	1.000000	0.71417	0.960000	0.40013	0.733000	0.41908	9.123000	0.94387	2.533000	0.85409	0.555000	0.69702	GAC		0.617	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542	
ZMYM2	7750	broad.mit.edu	37	13	20625722	20625722	+	Silent	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr13:20625722T>C	ENST00000382874.2	+	14	2632	c.2442T>C	c.(2440-2442)ccT>ccC	p.P814P	ZMYM2_ENST00000382871.2_Silent_p.P814P|ZMYM2_ENST00000382883.3_Silent_p.P296P|ZMYM2_ENST00000382869.3_Silent_p.P814P	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	814					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGAAAGGACCTGAAAACTTAC	0.368																																						uc001umr.2																			0				lung(3)|ovary(2)|prostate(1)	6						c.(2440-2442)CCT>CCC		zinc finger protein 198							87.0	87.0	87.0					13																	20625722		1901	4111	6012	SO:0001819	synonymous_variant	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20625722T>C	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2442T>C	13.37:g.20625722T>C						ZMYM2_uc001ums.2_Silent_p.P814P|ZMYM2_uc001umt.2_Silent_p.P814P|ZMYM2_uc010tco.1_RNA|ZMYM2_uc001umv.2_Silent_p.P194P|ZMYM2_uc001umw.2_Silent_p.P267P	p.P814P	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	14	2740	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	814					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Silent	SNP	ENST00000382874.2	37	c.2442T>C	CCDS45016.1																																																																																				0.368	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453	
GALC	2581	broad.mit.edu	37	14	88416243	88416243	+	Silent	SNP	G	G	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr14:88416243G>T	ENST00000261304.2	-	12	1390	c.1284C>A	c.(1282-1284)acC>acA	p.T428T	GALC_ENST00000393569.2_Silent_p.T402T|GALC_ENST00000544807.2_Silent_p.T372T|GALC_ENST00000393568.4_Silent_p.T405T	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	428					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCCAAGTTTGGTATACCATA	0.333																																						uc001xvt.2																			0					0						c.(1282-1284)ACC>ACA		galactosylceramidase isoform a precursor							104.0	98.0	100.0					14																	88416243		1793	4069	5862	SO:0001819	synonymous_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88416243G>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.1284C>A	14.37:g.88416243G>T						GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Silent_p.T402T|GALC_uc010tvy.1_Silent_p.T405T|GALC_uc010tvz.1_Silent_p.T372T	p.T428T	NM_000153	NP_000144	P54803	GALC_HUMAN			12	1683	-			428					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	ENST00000261304.2	37	c.1284C>A	CCDS9878.2																																																																																				0.333	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2		
CKMT1B	1159	broad.mit.edu	37	15	43891425	43891425	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:43891425G>A	ENST00000441322.1	+	9	1568	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	CKMT1B_ENST00000300283.6_Missense_Mutation_p.G403D			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	403					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CTGGAGAGAGGCCAGGATATC	0.493																																						uc001zsc.2																			0					0						c.(1207-1209)GGC>GAC		creatine kinase, mitochondrial 1B precursor	Creatine(DB00148)						160.0	141.0	147.0					15																	43891425		2200	4293	6493	SO:0001583	missense	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43891425G>A	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.1208G>A	15.37:g.43891425G>A	ENSP00000413255:p.Gly403Asp					CKMT1B_uc010uds.1_Missense_Mutation_p.G434D|CKMT1B_uc001zsd.3_Missense_Mutation_p.G403D|CKMT1B_uc010bdj.2_RNA	p.G403D	NM_020990	NP_066270	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1600	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	403					B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	c.1208G>A	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214667	0.58452	.	.	ENSG00000237289	ENST00000300283;ENST00000441322	T;T	0.23552	1.9;1.9	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.41834	0.1176	M	0.82923	2.615	0.80722	D	1	P;P	0.38335	0.627;0.493	P;B	0.44477	0.451;0.044	T	0.52675	-0.8544	10	0.66056	D	0.02	6.4613	15.6816	0.77373	0.0:0.0:1.0:0.0	.	434;403	P12532-2;P12532	.;KCRU_HUMAN	D	403	ENSP00000300283:G403D;ENSP00000413255:G403D	ENSP00000300283:G403D	G	+	2	0	CKMT1B	41678717	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.813000	0.86123	2.247000	0.74100	0.313000	0.20887	GGC		0.493	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990	
FBN1	2200	broad.mit.edu	37	15	48760692	48760692	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:48760692C>T	ENST00000316623.5	-	37	4954	c.4499G>A	c.(4498-4500)gGg>gAg	p.G1500E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1500	EGF-like 26; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACACAGTTCCCACTGATGCA	0.473																																						uc001zwx.1																			0				ovary(2)|large_intestine(1)	3						c.(4498-4500)GGG>GAG		fibrillin 1 precursor							124.0	99.0	108.0					15																	48760692		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48760692C>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4499G>A	15.37:g.48760692C>T	ENSP00000325527:p.Gly1500Glu					FBN1_uc010beo.1_5'Flank	p.G1500E	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	37	4827	-		all_lung(180;0.00279)	1500			EGF-like 26; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.4499G>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.164274	0.94727	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.94537	-3.45	5.64	5.64	0.86602	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.091101	0.85682	D	0.000000	D	0.96944	0.9002	M	0.67517	2.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96691	0.9511	10	0.62326	D	0.03	.	19.4873	0.95035	0.0:1.0:0.0:0.0	.	1500	P35555	FBN1_HUMAN	E	1500;68;390	ENSP00000325527:G1500E	ENSP00000325527:G1500E	G	-	2	0	FBN1	46547984	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	7.651000	0.83577	2.937000	0.99478	0.650000	0.86243	GGG		0.473	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
IGF1R	3480	broad.mit.edu	37	15	99251008	99251008	+	Silent	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:99251008G>A	ENST00000268035.6	+	2	923	c.312G>A	c.(310-312)acG>acA	p.T104T	IGF1R_ENST00000558762.1_Silent_p.T104T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	104					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCAACCTCACGGTCATCCGCG	0.547																																						uc002bul.2																			0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(310-312)ACG>ACA		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						78.0	63.0	68.0					15																	99251008		2197	4297	6494	SO:0001819	synonymous_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251008G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.312G>A	15.37:g.99251008G>A						IGF1R_uc010urq.1_Silent_p.T104T|IGF1R_uc010bon.2_Silent_p.T104T	p.T104T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	362	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		104					B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	ENST00000268035.6	37	c.312G>A	CCDS10378.1																																																																																				0.547	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
RLTPR	146206	broad.mit.edu	37	16	67681065	67681065	+	Missense_Mutation	SNP	C	C	T	rs550136705		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr16:67681065C>T	ENST00000334583.6	+	9	986	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	RLTPR_ENST00000545661.1_Missense_Mutation_p.R220W	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	220					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCTGTGGTTCCGGTGCCTCTC	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15065	0.0		0.0	False		,,,				2504	0.0					uc002etn.2																			0				breast(1)	1						c.(658-660)CGG>TGG		RGD motif, leucine rich repeats, tropomodulin							45.0	49.0	47.0					16																	67681065		2009	4182	6191	SO:0001583	missense	146206							g.chr16:67681065C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.658C>T	16.37:g.67681065C>T	ENSP00000334958:p.Arg220Trp					RLTPR_uc010cel.1_Missense_Mutation_p.R220W|RLTPR_uc010vjr.1_Missense_Mutation_p.R220W	p.R220W	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	9	778	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	220					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.658C>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159319	0.78226	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.55413	0.52;0.52	5.05	1.53	0.23141	.	1.086280	0.07243	N	0.864483	T	0.62307	0.2417	M	0.70108	2.13	0.30328	N	0.786885	D;D	0.71674	0.964;0.998	B;P	0.53988	0.232;0.739	T	0.56341	-0.7995	10	0.66056	D	0.02	-10.4963	7.239	0.26086	0.5323:0.3448:0.1229:0.0	.	220;220	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	W	220	ENSP00000334958:R220W;ENSP00000441481:R220W	ENSP00000334958:R220W	R	+	1	2	RLTPR	66238566	1.000000	0.71417	0.942000	0.38095	0.992000	0.81027	4.642000	0.61383	0.465000	0.27167	0.563000	0.77884	CGG		0.672	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838	
MFSD12	126321	broad.mit.edu	37	19	3550991	3550991	+	Missense_Mutation	SNP	G	G	A	rs372325734		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:3550991G>A	ENST00000355415.2	-	2	669	c.500C>T	c.(499-501)aCg>aTg	p.T167M	MFSD12_ENST00000398558.4_Missense_Mutation_p.T167M|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Missense_Mutation_p.T167M	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	167					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.T167M(2)		cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CCTGAGTGCCGTGAGCTCCAC	0.627																																						uc002lxz.2																			2	Substitution - Missense(2)		urinary_tract(2)	breast(1)|pancreas(1)	2						c.(499-501)ACG>ATG		hypothetical protein LOC126321 isoform c		G	MET/THR,MET/THR,MET/THR	0,3952		0,0,1976	16.0	18.0	18.0		500,500,500	5.1	0.9	19		18	1,8279		0,1,4139	no	missense,missense,missense	C19orf28	NM_001042680.1,NM_021731.2,NM_174983.3	81,81,81	0,1,6115	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging	167/474,167/539,167/481	3550991	1,12231	1976	4140	6116	SO:0001583	missense	126321				transmembrane transport	integral to membrane		g.chr19:3550991G>A	AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.500C>T	19.37:g.3550991G>A	ENSP00000347583:p.Thr167Met					C19orf28_uc002lxw.2_Missense_Mutation_p.T167M|C19orf28_uc002lxx.2_Missense_Mutation_p.T167M|C19orf28_uc002lxy.2_Missense_Mutation_p.T158M	p.T167M	NM_174983	NP_778148	Q6NUT3	CS028_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)	2	670	-		Hepatocellular(1079;0.137)	167					A8MXP7|D6W615|E9PAJ8|Q8N459	Missense_Mutation	SNP	ENST00000355415.2	37	c.500C>T	CCDS42465.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593016	0.66219	0.0	1.21E-4	ENSG00000161091	ENST00000389395;ENST00000398558;ENST00000355415	T;T;T	0.80123	-1.34;-1.34;-1.34	5.13	5.13	0.70059	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.89739	0.6802	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.978;0.968;0.991	D	0.90962	0.4813	10	0.72032	D	0.01	-19.9997	17.5569	0.87894	0.0:0.0:1.0:0.0	.	167;158;167	Q6NUT3;Q6NUT3-2;A8MXP7	CS028_HUMAN;.;.	M	167	ENSP00000374046:T167M;ENSP00000381566:T167M;ENSP00000347583:T167M	ENSP00000347583:T167M	T	-	2	0	C19orf28	3501991	1.000000	0.71417	0.929000	0.37066	0.245000	0.25701	8.909000	0.92647	2.393000	0.81446	0.462000	0.41574	ACG		0.627	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452949.2	NM_174983	
MUC16	94025	broad.mit.edu	37	19	9021119	9021119	+	Missense_Mutation	SNP	C	C	T	rs568911449	byFrequency	TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:9021119C>T	ENST00000397910.4	-	19	37407	c.37204G>A	c.(37204-37206)Ggg>Agg	p.G12402R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12404	SEA 3. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						ATGTCCTCCCCATACTGCAGG	0.547																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37204-37206)GGG>AGG		mucin 16							168.0	136.0	146.0					19																	9021119		1943	4145	6088	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9021119C>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.37204G>A	19.37:g.9021119C>T	ENSP00000381008:p.Gly12402Arg						p.G12402R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			19	37408	-			12404			Extracellular (Potential).|SEA 3.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37204G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	7.838	0.721365	0.15372	.	.	ENSG00000181143	ENST00000397910	T	0.29655	1.56	3.09	-4.02	0.04034	.	.	.	.	.	T	0.12817	0.0311	N	0.08118	0	.	.	.	B	0.15719	0.014	B	0.17098	0.017	T	0.24261	-1.0165	8	0.87932	D	0	.	3.5772	0.07938	0.172:0.3591:0.0:0.4689	.	12402	B5ME49	.	R	12402	ENSP00000381008:G12402R	ENSP00000381008:G12402R	G	-	1	0	MUC16	8882119	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.587000	0.02108	-0.953000	0.03645	0.455000	0.32223	GGG		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
NWD1	284434	broad.mit.edu	37	19	16874718	16874718	+	Missense_Mutation	SNP	A	A	G	rs111332125		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:16874718A>G	ENST00000552788.1	+	7	2213	c.2213A>G	c.(2212-2214)cAc>cGc	p.H738R	NWD1_ENST00000339803.6_Missense_Mutation_p.H603R|NWD1_ENST00000549814.1_Missense_Mutation_p.H738R|NWD1_ENST00000379808.3_Missense_Mutation_p.H738R|NWD1_ENST00000524140.2_Missense_Mutation_p.H738R|NWD1_ENST00000523826.1_Missense_Mutation_p.H532R			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	738							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCTGCTTCACTCGGGCCGC	0.612																																						uc002neu.3																			0				skin(3)|ovary(2)|pancreas(2)	7						c.(2212-2214)CAC>CGC		RecName: Full=NACHT and WD repeat domain-containing protein 1;							62.0	58.0	60.0					19																	16874718		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16874718A>G	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2213A>G	19.37:g.16874718A>G	ENSP00000447224:p.His738Arg					NWD1_uc002net.3_Missense_Mutation_p.H603R|NWD1_uc002nev.3_Missense_Mutation_p.H532R	p.H738R			Q149M9	NWD1_HUMAN			9	2635	+			738					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.2213A>G		.	.	.	.	.	.	.	.	.	.	A	7.849	0.723491	0.15439	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.55234	0.53;0.59;0.53;0.53;0.59;0.58	4.88	1.54	0.23209	.	0.347013	0.28488	N	0.015176	T	0.34803	0.0910	L	0.45352	1.415	0.09310	N	1	P;P;P	0.48764	0.915;0.902;0.842	B;B;B	0.43301	0.374;0.415;0.236	T	0.31194	-0.9952	10	0.07990	T	0.79	-5.2889	3.0349	0.06118	0.6178:0.0:0.2024:0.1797	.	738;738;603	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	R	603;738;738;738;532;738;603	ENSP00000428579:H738R;ENSP00000447548:H738R;ENSP00000369136:H738R;ENSP00000428955:H532R;ENSP00000447224:H738R;ENSP00000340159:H603R	ENSP00000340159:H603R	H	+	2	0	NWD1	16735718	0.079000	0.21365	0.034000	0.17996	0.606000	0.37113	1.991000	0.40727	-0.052000	0.13311	0.386000	0.25728	CAC		0.612	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
SLC5A6	8884	broad.mit.edu	37	2	27425742	27425742	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:27425742C>T	ENST00000310574.3	-	12	1687	c.1214G>A	c.(1213-1215)gGc>gAc	p.G405D	SLC5A6_ENST00000461319.1_5'UTR|SLC5A6_ENST00000408041.1_Missense_Mutation_p.G405D	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	405					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	CAGCCCATAGCCAAAGGCTGG	0.493																																						uc002rjd.2																			0				ovary(2)	2						c.(1213-1215)GGC>GAC		solute carrier family 5 (sodium-dependent	Biotin(DB00121)|Lipoic Acid(DB00166)						97.0	105.0	103.0					2																	27425742		2203	4300	6503	SO:0001583	missense	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27425742C>T	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1214G>A	2.37:g.27425742C>T	ENSP00000310208:p.Gly405Asp					SLC5A6_uc010eyv.1_Missense_Mutation_p.G405D	p.G405D	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN			12	1605	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		405			Helical; (Potential).		B2RB85|D6W549|Q969Y5	Missense_Mutation	SNP	ENST00000310574.3	37	c.1214G>A	CCDS1740.1	.	.	.	.	.	.	.	.	.	.	C	9.573	1.121464	0.20877	.	.	ENSG00000138074	ENST00000310574;ENST00000408041	D;D	0.87729	-2.29;-2.29	5.47	1.36	0.22044	.	0.437004	0.25991	N	0.027006	D	0.83792	0.5331	M	0.69358	2.11	0.34391	D	0.694145	B	0.31705	0.336	B	0.36335	0.222	D	0.83873	0.0275	10	0.72032	D	0.01	.	5.9872	0.19440	0.121:0.5508:0.2499:0.0782	.	405	Q9Y289	SC5A6_HUMAN	D	405	ENSP00000310208:G405D;ENSP00000384853:G405D	ENSP00000310208:G405D	G	-	2	0	SLC5A6	27279246	0.289000	0.24334	1.000000	0.80357	0.343000	0.28985	0.011000	0.13264	0.664000	0.31047	-0.251000	0.11542	GGC		0.493	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095	
SLC1A4	6509	broad.mit.edu	37	2	65237852	65237852	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:65237852A>G	ENST00000234256.3	+	4	998	c.755A>G	c.(754-756)aAt>aGt	p.N252S	SLC1A4_ENST00000531327.1_Missense_Mutation_p.N32S|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	252					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CGTTTCTTCAATTCCCTCAAC	0.498																																						uc010yqa.1																			0				pancreas(1)	1						c.(754-756)AAT>AGT		solute carrier family 1, member 4 isoform 1	L-Alanine(DB00160)						195.0	171.0	179.0					2																	65237852		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65237852A>G		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.755A>G	2.37:g.65237852A>G	ENSP00000234256:p.Asn252Ser					SLC1A4_uc010ypy.1_Missense_Mutation_p.N32S|SLC1A4_uc010ypz.1_Missense_Mutation_p.N32S|SLC1A4_uc010fcv.2_Missense_Mutation_p.N252S|SLC1A4_uc002sdh.2_Missense_Mutation_p.N32S	p.N252S	NM_003038	NP_003029	P43007	SATT_HUMAN			4	1077	+			252					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.755A>G	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.254894	0.22965	.	.	ENSG00000115902	ENST00000531327;ENST00000448784;ENST00000234256	T;T	0.58060	0.36;0.36	6.03	2.43	0.29744	.	0.125530	0.64402	N	0.000001	T	0.38983	0.1061	L	0.35414	1.06	0.58432	D	0.999998	B;B;B	0.12630	0.002;0.002;0.006	B;B;B	0.17979	0.007;0.02;0.012	T	0.17837	-1.0356	10	0.45353	T	0.12	-12.4324	9.2847	0.37749	0.7976:0.0:0.2024:0.0	.	252;32;252	P43007;B7Z3C0;B2R7N6	SATT_HUMAN;.;.	S	32;172;252	ENSP00000431942:N32S;ENSP00000234256:N252S	ENSP00000234256:N252S	N	+	2	0	SLC1A4	65091356	1.000000	0.71417	0.999000	0.59377	0.491000	0.33493	3.232000	0.51302	0.524000	0.28502	0.455000	0.32223	AAT		0.498	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038	
GPR45	11250	broad.mit.edu	37	2	105858641	105858641	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:105858641T>C	ENST00000258456.1	+	1	442	c.326T>C	c.(325-327)cTc>cCc	p.L109P		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TTCTGCCGCCTCTCAGCCACG	0.612																																						uc002tco.1																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(325-327)CTC>CCC		G protein-coupled receptor 45							85.0	84.0	84.0					2																	105858641		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858641T>C	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.326T>C	2.37:g.105858641T>C	ENSP00000258456:p.Leu109Pro						p.L109P	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	442	+			109			Extracellular (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.326T>C	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.337933	0.60963	.	.	ENSG00000135973	ENST00000258456	T	0.42900	0.96	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.346449	0.26840	N	0.022239	T	0.56688	0.2002	M	0.64170	1.965	0.40465	D	0.980281	P	0.52316	0.952	P	0.60682	0.878	T	0.61392	-0.7072	10	0.72032	D	0.01	-27.7729	10.9078	0.47090	0.1407:0.0:0.0:0.8593	.	109	Q9Y5Y3	GPR45_HUMAN	P	109	ENSP00000258456:L109P	ENSP00000258456:L109P	L	+	2	0	GPR45	105225073	0.319000	0.24607	0.940000	0.37924	0.885000	0.51271	2.220000	0.42908	1.987000	0.57996	0.379000	0.24179	CTC		0.612	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227	
NDUFA10	4705	broad.mit.edu	37	2	240944658	240944658	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:240944658C>T	ENST00000252711.2	-	8	959	c.859G>A	c.(859-861)Gac>Aac	p.D287N	NDUFA10_ENST00000404554.1_Missense_Mutation_p.D287N|NDUFA10_ENST00000307300.4_Missense_Mutation_p.D317N	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	287					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|nucleoside kinase activity (GO:0019206)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)		GTGCGATTGTCCTGCTTGAGC	0.463																																						uc002vyn.2																			0				central_nervous_system(1)	1						c.(859-861)GAC>AAC		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						161.0	151.0	154.0					2																	240944658		2203	4300	6503	SO:0001583	missense	4705				mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	g.chr2:240944658C>T	AF087661	CCDS2531.1	2q37.3	2011-07-04	2002-08-29		ENSG00000130414	ENSG00000130414		"""Mitochondrial respiratory chain complex / Complex I"""	7684	protein-coding gene	gene with protein product	"""complex I 42kDa subunit"""	603835	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10 (42kD)"""			9878551	Standard	NM_004544		Approved	CI-42k	uc002vyn.3	O95299	OTTHUMG00000133350	ENST00000252711.2:c.859G>A	2.37:g.240944658C>T	ENSP00000252711:p.Asp287Asn					NDUFA10_uc010fzc.1_Missense_Mutation_p.D317N	p.D287N	NM_004544	NP_004535	O95299	NDUAA_HUMAN		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	8	939	-		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	287					Q8WXC9	Missense_Mutation	SNP	ENST00000252711.2	37	c.859G>A	CCDS2531.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.067|5.067	0.197983|0.197983	0.09652|0.09652	.|.	.|.	ENSG00000130414|ENSG00000130414	ENST00000419408;ENST00000252711;ENST00000404554;ENST00000422018;ENST00000448880;ENST00000307300|ENST00000444548	D;D;D|.	0.94092|.	-3.35;-3.35;-3.35|.	4.71|4.71	0.749|0.749	0.18381|0.18381	.|.	0.525600|.	0.21938|.	N|.	0.066927|.	T|T	0.38558|0.38558	0.1045|0.1045	N|N	0.25060|0.25060	0.705|0.705	0.80722|0.80722	D|D	1|1	B;B|.	0.22800|.	0.075;0.04|.	B;B|.	0.25140|.	0.058;0.032|.	T|T	0.06844|0.06844	-1.0804|-1.0804	10|5	0.10636|.	T|.	0.68|.	-14.0178|-14.0178	7.5623|7.5623	0.27857|0.27857	0.0:0.6031:0.0:0.3969|0.0:0.6031:0.0:0.3969	.|.	317;287|.	Q8WXC9;O95299|.	.;NDUAA_HUMAN|.	N|E	52;287;287;287;50;317|57	ENSP00000252711:D287N;ENSP00000385697:D287N;ENSP00000302321:D317N|.	ENSP00000252711:D287N|.	D|G	-|-	1|2	0|0	NDUFA10|NDUFA10	240593331|240593331	0.570000|0.570000	0.26651|0.26651	0.046000|0.046000	0.18839|0.18839	0.016000|0.016000	0.09150|0.09150	0.472000|0.472000	0.22116|0.22116	0.163000|0.163000	0.19507|0.19507	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.463	NDUFA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257180.2	NM_004544	
SYCP2	10388	broad.mit.edu	37	20	58471554	58471554	+	Silent	SNP	A	A	G	rs555435833		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr20:58471554A>G	ENST00000357552.3	-	19	1659	c.1434T>C	c.(1432-1434)tcT>tcC	p.S478S	SYCP2_ENST00000371001.2_Silent_p.S478S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	478					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGATGCTTCAGACATTTTTC	0.313													A|||	1	0.000199681	0.0	0.0	5008	,	,		16236	0.0		0.0	False		,,,				2504	0.001					uc002yaz.2																			0				ovary(3)|lung(2)	5						c.(1432-1434)TCT>TCC		synaptonemal complex protein 2							87.0	85.0	86.0					20																	58471554		2203	4296	6499	SO:0001819	synonymous_variant	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58471554A>G	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1434T>C	20.37:g.58471554A>G							p.S478S	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		18	1573	-	all_lung(29;0.00344)		478					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	ENST00000357552.3	37	c.1434T>C	CCDS13482.1																																																																																				0.313	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
SCAF4	57466	broad.mit.edu	37	21	33044602	33044602	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr21:33044602C>T	ENST00000286835.7	-	20	2936	c.2554G>A	c.(2554-2556)Gcc>Acc	p.A852T	SCAF4_ENST00000399804.1_Missense_Mutation_p.A830T|SCAF4_ENST00000434667.3_Missense_Mutation_p.A837T	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	852						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCGGGCCGGGCGCCAAGAAGA	0.562																																						uc002ypd.2																			0					0						c.(2554-2556)GCC>ACC		splicing factor, arginine/serine-rich 15 isoform							40.0	44.0	43.0					21																	33044602		2202	4298	6500	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044602C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2554G>A	21.37:g.33044602C>T	ENSP00000286835:p.Ala852Thr					SFRS15_uc002ype.2_Missense_Mutation_p.A830T|SFRS15_uc010glu.2_Missense_Mutation_p.A837T	p.A852T	NM_020706	NP_065757	O95104	SFR15_HUMAN			20	2980	-			852					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.2554G>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545734	0.45280	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.51325	0.84;0.83;0.71	5.13	4.25	0.50352	.	0.098933	0.44688	N	0.000435	T	0.24470	0.0593	N	0.14661	0.345	0.58432	D	0.999994	P;P;P	0.40515	0.597;0.719;0.597	B;B;B	0.26310	0.031;0.068;0.031	T	0.06232	-1.0838	10	0.21540	T	0.41	-8.7758	13.7443	0.62865	0.0:0.9261:0.0:0.0739	.	837;830;852	C9JLZ0;O95104-2;O95104	.;.;SFR15_HUMAN	T	837;852;830	ENSP00000402377:A837T;ENSP00000286835:A852T;ENSP00000382703:A830T	ENSP00000286835:A852T	A	-	1	0	SCAF4	31966473	1.000000	0.71417	0.853000	0.33588	0.986000	0.74619	5.083000	0.64456	1.396000	0.46663	0.555000	0.69702	GCC		0.562	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	
PITPNB	23760	broad.mit.edu	37	22	28310333	28310333	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr22:28310333C>T	ENST00000335272.5	-	2	99	c.23G>A	c.(22-24)cGt>cAt	p.R8H	PITPNB_ENST00000320996.10_Missense_Mutation_p.R8H|PITPNB_ENST00000455418.3_Missense_Mutation_p.R10H	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	8					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						CAAAACCACACGGCTAAAAAG	0.318																																						uc003adk.2																			0				skin(1)	1						c.(22-24)CGT>CAT		phosphatidylinositol transfer protein, beta							54.0	48.0	50.0					22																	28310333		2203	4296	6499	SO:0001583	missense	23760				lipid metabolic process|transport	Golgi apparatus	lipid binding	g.chr22:28310333C>T	D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.23G>A	22.37:g.28310333C>T	ENSP00000334738:p.Arg8His					PITPNB_uc011akh.1_Missense_Mutation_p.R10H|PITPNB_uc003adl.2_Missense_Mutation_p.R8H	p.R8H	NM_012399	NP_036531	P48739	PIPNB_HUMAN			2	99	-			8					B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	ENST00000335272.5	37	c.23G>A	CCDS13842.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442340	0.83993	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000436663	T;T;T;T	0.56941	0.74;0.74;0.74;0.43	5.63	5.63	0.86233	START-like domain (1);	0.052951	0.85682	D	0.000000	T	0.76026	0.3930	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.71870	0.975;0.974;0.944	T	0.78011	-0.2371	10	0.56958	D	0.05	-9.3505	18.6301	0.91357	0.0:1.0:0.0:0.0	.	10;8;8	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	H	8;8;10;10	ENSP00000334738:R8H;ENSP00000321266:R8H;ENSP00000405179:R10H;ENSP00000403675:R10H	ENSP00000321266:R8H	R	-	2	0	PITPNB	26640333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.786000	0.55431	2.814000	0.96858	0.591000	0.81541	CGT		0.318	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320740.1		
DPPA2	151871	broad.mit.edu	37	3	109026881	109026881	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:109026881G>A	ENST00000478945.1	-	6	902	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	219					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATCTTACCAGAGGCTTGCAT	0.438																																						uc003dxo.2																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(655-657)TCT>TTT		developmental pluripotency associated 2							45.0	44.0	44.0					3																	109026881		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109026881G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.656C>T	3.37:g.109026881G>A	ENSP00000417710:p.Ser219Phe						p.S219F	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN			6	903	-			219					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.656C>T	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	6.340	0.430878	0.12045	.	.	ENSG00000163530	ENST00000478945	T	0.35973	1.28	4.34	1.56	0.23342	.	0.990721	0.08209	N	0.980996	T	0.46288	0.1385	L	0.50333	1.59	0.19300	N	0.999977	D	0.71674	0.998	P	0.61940	0.896	T	0.30268	-0.9984	10	0.29301	T	0.29	-12.1894	6.4425	0.21856	0.3077:0.0:0.6923:0.0	.	219	Q7Z7J5	DPPA2_HUMAN	F	219	ENSP00000417710:S219F	ENSP00000417710:S219F	S	-	2	0	DPPA2	110509571	0.015000	0.18098	0.252000	0.24328	0.019000	0.09904	0.349000	0.20055	0.349000	0.23975	-0.350000	0.07774	TCT		0.438	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815	
CD200R1L	344807	broad.mit.edu	37	3	112546470	112546470	+	Silent	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:112546470T>C	ENST00000398214.1	-	3	399	c.174A>G	c.(172-174)gcA>gcG	p.A58A	CD200R1L_ENST00000488794.1_Silent_p.A37A|CD200R1L_ENST00000448932.1_Silent_p.A37A	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	58	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AATTTCTTAATGCGATAGGAG	0.393																																						uc003dzi.1																			0				ovary(1)	1						c.(172-174)GCA>GCG		CD200 cell surface glycoprotein receptor 2							127.0	118.0	121.0					3																	112546470		2203	4300	6503	SO:0001819	synonymous_variant	344807					integral to membrane	receptor activity	g.chr3:112546470T>C	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.174A>G	3.37:g.112546470T>C						CD200R1L_uc011bhw.1_Silent_p.A37A|CD200R1L_uc010hqf.1_Silent_p.A37A	p.A58A	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN			3	400	-			58			Ig-like V-type.|Extracellular (Potential).		Q6WHB7	Silent	SNP	ENST00000398214.1	37	c.174A>G	CCDS43131.1																																																																																				0.393	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784	
RNF168	165918	broad.mit.edu	37	3	196230195	196230195	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:196230195C>T	ENST00000318037.3	-	0	444					NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase						cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCATCCAACACGTCTTGAAGC	0.493																																						uc003fwq.2																			0					0						c.(-152--148)ACGTG>ACATG		ring finger protein 168																																						165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196230195C>T	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.-151G>A	3.37:g.196230195C>T						RNF168_uc010iah.2_Translation_Start_Site		NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	1	388	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)							Q8NA67|Q96NS4	Translation_Start_Site	SNP	ENST00000318037.3	37	c.-150G>A	CCDS3317.1																																																																																				0.493	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617	
CRIPAK	285464	broad.mit.edu	37	4	1389373	1389373	+	Silent	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:1389373T>C	ENST00000324803.4	+	1	4034	c.1074T>C	c.(1072-1074)caT>caC	p.H358H		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	358				H -> Y (in Ref. 1; BAC03741). {ECO:0000305}.	negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCCATGTGGAGTGCC	0.657																																						uc003gdf.2																			0					0						c.(1072-1074)CAT>CAC		cysteine-rich PAK1 inhibitor							165.0	172.0	170.0					4																	1389373		2203	4298	6501	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389373T>C	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1074T>C	4.37:g.1389373T>C							p.H358H	NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4034	+			358	H -> Y (in Ref. 1; BAC03741).				Q8NB03	Silent	SNP	ENST00000324803.4	37	c.1074T>C	CCDS3349.1																																																																																				0.657	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
HGFAC	3083	broad.mit.edu	37	4	3451018	3451018	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:3451018G>A	ENST00000382774.3	+	14	1955	c.1840G>A	c.(1840-1842)Ggc>Agc	p.G614S	HGFAC_ENST00000511533.1_Missense_Mutation_p.G621S	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	614	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTACCTCTACGGCATCATCAG	0.672																																						uc003ghc.2																			0				central_nervous_system(2)	2						c.(1840-1842)GGC>AGC		HGF activator preproprotein							51.0	63.0	59.0					4																	3451018		2203	4298	6501	SO:0001583	missense	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3451018G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1840G>A	4.37:g.3451018G>A	ENSP00000372224:p.Gly614Ser					HGFAC_uc010icw.2_Missense_Mutation_p.G621S	p.G614S	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	14	1843	+			614			Peptidase S1.		Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	ENST00000382774.3	37	c.1840G>A	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	34	5.377791	0.95945	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.99532	-6.1;-6.1	4.05	4.05	0.47172	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.98276	4.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96644	0.9476	10	0.87932	D	0	.	14.927	0.70887	0.0:0.0:1.0:0.0	.	621;614	D6RAR4;Q04756	.;HGFA_HUMAN	S	614;621	ENSP00000372224:G614S;ENSP00000421801:G621S	ENSP00000372224:G614S	G	+	1	0	HGFAC	3420816	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.564000	0.53791	2.080000	0.62538	0.561000	0.74099	GGC		0.672	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3		
RBM47	54502	broad.mit.edu	37	4	40439840	40439840	+	Silent	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:40439840G>A	ENST00000381793.2	-	3	1467	c.1071C>T	c.(1069-1071)taC>taT	p.Y357Y	RBM47_ENST00000319592.4_Silent_p.Y357Y|RBM47_ENST00000514014.1_Silent_p.Y319Y|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Silent_p.Y357Y|RBM47_ENST00000381795.6_Silent_p.Y357Y			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	357					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGGGGTAGCCGTAGTAGGCCA	0.642																																						uc003gvc.2																			0				breast(3)	3						c.(1069-1071)TAC>TAT		RNA binding motif protein 47 isoform a							44.0	45.0	45.0					4																	40439840		2203	4300	6503	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40439840G>A	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1071C>T	4.37:g.40439840G>A						RBM47_uc003gvd.2_Silent_p.Y357Y|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Silent_p.Y319Y|RBM47_uc003gvg.1_Silent_p.Y357Y	p.Y357Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	1781	-			357					A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.1071C>T	CCDS43223.1																																																																																				0.642	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
ANK2	287	broad.mit.edu	37	4	114276299	114276299	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:114276299C>G	ENST00000357077.4	+	38	6578	c.6525C>G	c.(6523-6525)aaC>aaG	p.N2175K	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.N2142K|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2175					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTCCTTTCAACACAACATTTC	0.433																																						uc003ibe.3																			0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(6523-6525)AAC>AAG		ankyrin 2 isoform 1							132.0	124.0	127.0					4																	114276299		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114276299C>G	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.6525C>G	4.37:g.114276299C>G	ENSP00000349588:p.Asn2175Lys					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.N2190K	p.N2175K	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6625	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2142					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.6525C>G	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	1.299	-0.605522	0.03717	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69806	-0.43;-0.43	5.87	1.7	0.24286	.	0.731439	0.12723	N	0.444537	T	0.60702	0.2289	M	0.66939	2.045	0.09310	N	1	B;B	0.31548	0.003;0.328	B;B	0.30495	0.006;0.116	T	0.49082	-0.8976	9	.	.	.	.	8.2682	0.31827	0.0:0.4943:0.0:0.5057	.	2142;2175	Q01484;Q01484-4	ANK2_HUMAN;.	K	2175;2142	ENSP00000349588:N2175K;ENSP00000264366:N2142K	.	N	+	3	2	ANK2	114495748	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.741000	0.04855	0.200000	0.20447	-1.814000	0.00607	AAC		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
DNAH5	1767	broad.mit.edu	37	5	13876806	13876806	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:13876806T>A	ENST00000265104.4	-	22	3487	c.3383A>T	c.(3382-3384)aAc>aTc	p.N1128I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1128	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGGTGGAGTTGATAATTGT	0.378									Kartagener syndrome																													uc003jfd.2																			0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(3382-3384)AAC>ATC		dynein, axonemal, heavy chain 5							126.0	128.0	127.0					5																	13876806		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13876806T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3383A>T	5.37:g.13876806T>A	ENSP00000265104:p.Asn1128Ile						p.N1128I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			22	3425	-	Lung NSC(4;0.00476)		1128			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3383A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	9.818	1.185094	0.21870	.	.	ENSG00000039139	ENST00000265104	T	0.23950	1.88	5.6	-1.12	0.09808	.	0.194113	0.53938	D	0.000042	T	0.25644	0.0624	M	0.85542	2.76	0.36893	D	0.88997	B	0.11235	0.004	B	0.14023	0.01	T	0.16571	-1.0398	10	0.16896	T	0.51	.	6.9615	0.24599	0.0:0.325:0.1149:0.56	.	1128	Q8TE73	DYH5_HUMAN	I	1128	ENSP00000265104:N1128I	ENSP00000265104:N1128I	N	-	2	0	DNAH5	13929806	0.898000	0.30612	0.987000	0.45799	0.900000	0.52787	-0.113000	0.10774	-0.317000	0.08677	0.533000	0.62120	AAC		0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
C6	729	broad.mit.edu	37	5	41186199	41186199	+	Silent	SNP	C	C	T	rs200831910		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:41186199C>T	ENST00000263413.3	-	6	963	c.699G>A	c.(697-699)ccG>ccA	p.P233P	C6_ENST00000337836.5_Silent_p.P233P|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	233	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCAGATTGGCCGGAACACGGT	0.443																																						uc003jmk.2																			0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(697-699)CCG>CCA		complement component 6 precursor							128.0	118.0	122.0					5																	41186199		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41186199C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.699G>A	5.37:g.41186199C>T						C6_uc003jml.1_Silent_p.P233P	p.P233P	NM_000065	NP_000056	P13671	CO6_HUMAN			6	909	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	233			MACPF.			Silent	SNP	ENST00000263413.3	37	c.699G>A	CCDS3936.1																																																																																				0.443	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		
PCDHB7	56129	broad.mit.edu	37	5	140554315	140554315	+	Silent	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:140554315C>T	ENST00000231137.3	+	1	2073	c.1899C>T	c.(1897-1899)cgC>cgT	p.R633R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.687																																						uc003lit.2																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1897-1899)CGC>CGT		protocadherin beta 7 precursor							40.0	64.0	56.0					5																	140554315		2166	4275	6441	SO:0001819	synonymous_variant	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554315C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1899C>T	5.37:g.140554315C>T							p.R633R	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2073	+			633			Cadherin 6.|Extracellular (Potential).		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1899C>T	CCDS4249.1																																																																																				0.687	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
SH3TC2	79628	broad.mit.edu	37	5	148407984	148407984	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:148407984G>C	ENST00000515425.1	-	11	1412	c.1311C>G	c.(1309-1311)gaC>gaG	p.D437E	SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000394358.2_Missense_Mutation_p.D322E|SH3TC2_ENST00000512049.1_Missense_Mutation_p.D430E|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	437					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGATAGCTGTCTGAGGTGG	0.622																																						uc003lpu.2																			0				ovary(2)	2						c.(1309-1311)GAC>GAG		SH3 domain and tetratricopeptide repeats 2							46.0	49.0	48.0					5																	148407984		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148407984G>C	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1311C>G	5.37:g.148407984G>C	ENSP00000423660:p.Asp437Glu					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.D81E|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.D430E|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.D322E	p.D437E	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1463	-			437					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1311C>G	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.710570	0.00712	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	T;T;T	0.75367	-0.93;-0.92;-0.56	5.5	1.76	0.24704	.	0.000000	0.85682	D	0.000000	T	0.43077	0.1231	N	0.14661	0.345	0.34382	D	0.69316	P;B;B;B	0.37636	0.603;0.041;0.041;0.041	B;B;B;B	0.32762	0.152;0.018;0.018;0.018	T	0.51733	-0.8668	10	0.06365	T	0.9	.	2.4205	0.04447	0.2675:0.0989:0.4862:0.1474	.	322;430;437;437	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	E	437;430;322	ENSP00000423660:D437E;ENSP00000421860:D430E;ENSP00000377886:D322E	ENSP00000377886:D322E	D	-	3	2	SH3TC2	148388177	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	0.864000	0.27926	0.455000	0.26910	-0.736000	0.03550	GAC		0.622	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
GABRB2	2561	broad.mit.edu	37	5	160761758	160761758	+	Splice_Site	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:160761758C>T	ENST00000393959.1	-	7	832		c.e7+1		GABRB2_ENST00000520240.1_Splice_Site|GABRB2_ENST00000274547.2_Splice_Site|GABRB2_ENST00000517547.1_Splice_Site|GABRB2_ENST00000517901.1_Splice_Site|GABRB2_ENST00000353437.6_Splice_Site			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2						cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		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)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAATGGCCTACCTAATGCCAC	0.443																																						uc003lys.1																			0					0						c.e8+1		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						134.0	120.0	125.0					5																	160761758		2203	4300	6503	SO:0001630	splice_region_variant	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160761758C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.832+1G>A	5.37:g.160761758C>T						GABRB2_uc011deh.1_Splice_Site_p.G117_splice|GABRB2_uc003lyr.1_Splice_Site_p.G278_splice|GABRB2_uc003lyt.1_Splice_Site_p.G278_splice|GABRB2_uc010jiu.1_Splice_Site_p.G215_splice	p.G278_splice	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1050	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)						A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Splice_Site	SNP	ENST00000393959.1	37	c.832_splice	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493586	0.84962	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5427	0.91035	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRB2	160694336	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	7.720000	0.84759	2.372000	0.80975	0.650000	0.86243	.		0.443	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1		Intron
GABRA6	2559	broad.mit.edu	37	5	161117359	161117359	+	Splice_Site	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:161117359G>A	ENST00000274545.5	+	7	1259	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Splice_Site_p.G266R			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	276					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AACTGTTTTTGGTATATGTCA	0.378										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(826-828)GGG>AGG		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						125.0	120.0	122.0					5																	161117359		2203	4300	6503	SO:0001630	splice_region_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161117359G>A		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.826+1G>A	5.37:g.161117359G>A		TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.G47R	p.G276R	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1164	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	276			Helical; (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.826G>A	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754696	0.89843	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.89415	-2.51;-2.51	5.31	5.31	0.75309	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.152152	0.64402	D	0.000016	D	0.96938	0.9000	H	0.97918	4.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98440	1.0586	10	0.87932	D	0	.	18.9873	0.92777	0.0:0.0:1.0:0.0	.	276	Q16445	GBRA6_HUMAN	R	276;266	ENSP00000274545:G276R;ENSP00000430527:G266R	ENSP00000274545:G276R	G	+	1	0	GABRA6	161049937	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.751000	0.98889	2.491000	0.84063	0.655000	0.94253	GGG		0.378	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		Missense_Mutation
HIST1H1C	3006	broad.mit.edu	37	6	26056237	26056245	+	In_Frame_Del	DEL	CTTCTTGGG	CTTCTTGGG	-	rs149712381|rs547786942|rs370764227		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:26056237_26056245delCTTCTTGGG	ENST00000343677.2	-	1	454_462	c.412_420delCCCAAGAAG	c.(412-420)cccaagaagdel	p.PKK138del		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	138					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGCCAGCCGCCTTCTTGGGCTTCTTGGCT	0.565																																						uc003nfw.2																			0				ovary(3)|skin(2)	5						c.(412-420)CCCAAGAAGdel		histone cluster 1, H1c				2,4220		0,2,2109						2.5	1.0			69	4,8226		1,2,4112	no	coding	HIST1H1C	NM_005319.3		1,4,6221	A1A1,A1R,RR		0.0486,0.0474,0.0482				6,12446				SO:0001651	inframe_deletion	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056237_26056245delCTTCTTGGG	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.412_420delCCCAAGAAG	6.37:g.26056237_26056245delCTTCTTGGG	ENSP00000339566:p.Pro138_Lys140del						p.PKK138del	NM_005319	NP_005310	P16403	H12_HUMAN			1	455_463	-			138_140					A8K4I2	In_Frame_Del	DEL	ENST00000343677.2	37	c.412_420delCCCAAGAAG	CCDS4577.1																																																																																				0.565	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319	
TAP2	6891	broad.mit.edu	37	6	32803482	32803482	+	Missense_Mutation	SNP	C	C	T	rs371802164		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:32803482C>T	ENST00000452392.2	-	4	850	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	TAP2_ENST00000374897.2_Missense_Mutation_p.R226Q|TAP2_ENST00000485701.1_5'Flank|TAP2_ENST00000374899.4_Missense_Mutation_p.R226Q			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)									Vitamin E(DB00163)	AAGCTGCTCCCGGATCCGCAA	0.582																																						uc003occ.2																			0					0						c.(676-678)CGG>CAG		transporter 2, ATP-binding cassette, sub-family							92.0	87.0	89.0					6																	32803482		1510	2708	4218	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32803482C>T	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.677G>A	6.37:g.32803482C>T	ENSP00000391806:p.Arg226Gln					TAP2_uc011dqf.1_Missense_Mutation_p.R226Q|TAP2_uc003ocb.1_Missense_Mutation_p.R226Q|TAP2_uc003ocd.2_Missense_Mutation_p.R226Q	p.R226Q	NM_018833	NP_061313	Q03519	TAP2_HUMAN			3	708	-			226			Cytoplasmic (Potential).|ABC transmembrane type-1.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.677G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.988011	0.74589	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	D;D;D	0.86694	-2.16;-2.16;-2.16	4.99	4.12	0.48240	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.42172	D	0.000743	D	0.90892	0.7138	M	0.80847	2.515	0.37459	D	0.915144	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.989;1.0;1.0;0.999	D	0.92179	0.5750	9	0.87932	D	0	-29.564	11.0124	0.47669	0.0:0.9083:0.0:0.0917	.	226;227;226;226	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	Q	226	ENSP00000364034:R226Q;ENSP00000364032:R226Q;ENSP00000391806:R226Q	ENSP00000364032:R226Q	R	-	2	0	XXbac-BPG246D15.9;TAP2	32911460	0.979000	0.34478	0.980000	0.43619	0.944000	0.59088	2.433000	0.44793	1.101000	0.41535	0.542000	0.68232	CGG		0.582	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544	
DNAH8	1769	broad.mit.edu	37	6	38750809	38750809	+	Silent	SNP	C	C	T	rs570158039		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:38750809C>T	ENST00000359357.3	+	15	1892	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D	DNAH8_ENST00000449981.2_Silent_p.D763D|DNAH8_ENST00000441566.1_Silent_p.D546D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	546					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAGTCCGGACGGTAAAGCTG	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		19839	0.0		0.0	False		,,,				2504	0.001					uc003ooe.1																			0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(1636-1638)GAC>GAT		dynein, axonemal, heavy polypeptide 8							106.0	100.0	102.0					6																	38750809		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38750809C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1638C>T	6.37:g.38750809C>T							p.D546D	NM_001371	NP_001362					15	2238	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.1638C>T																																																																																					0.378	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
MANEA	79694	broad.mit.edu	37	6	96053740	96053740	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:96053740C>T	ENST00000358812.4	+	5	982	c.848C>T	c.(847-849)aCc>aTc	p.T283I	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	283	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AATCTGTTAACCACCTCAGGG	0.398																																						uc003poo.1																			0				ovary(2)|breast(1)	3						c.(847-849)ACC>ATC		mannosidase, endo-alpha							125.0	120.0	122.0					6																	96053740		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96053740C>T	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.848C>T	6.37:g.96053740C>T	ENSP00000351669:p.Thr283Ile						p.T283I	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	988	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	283			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.848C>T	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008569	0.75046	.	.	ENSG00000172469	ENST00000358812	D	0.92249	-3.0	6.16	5.3	0.74995	.	0.044711	0.85682	D	0.000000	D	0.89928	0.6857	M	0.83603	2.65	0.49299	D	0.999772	P	0.46512	0.879	B	0.41571	0.36	D	0.89894	0.4039	10	0.42905	T	0.14	-16.8523	14.8614	0.70384	0.0:0.9316:0.0:0.0684	.	283	Q5SRI9	MANEA_HUMAN	I	283	ENSP00000351669:T283I	ENSP00000351669:T283I	T	+	2	0	MANEA	96160461	0.997000	0.39634	0.951000	0.38953	0.998000	0.95712	3.619000	0.54196	1.623000	0.50342	0.650000	0.86243	ACC		0.398	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641	
SIM1	6492	broad.mit.edu	37	6	100841630	100841630	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:100841630C>T	ENST00000369208.3	-	11	2085	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	SIM1_ENST00000262901.4_Missense_Mutation_p.A435T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	435	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGTCTGTAGGCGCACGATGCG	0.617																																						uc003pqj.3																			0				ovary(4)	4						c.(1303-1305)GCC>ACC		single-minded homolog 1							75.0	71.0	73.0					6																	100841630		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841630C>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1303G>A	6.37:g.100841630C>T	ENSP00000358210:p.Ala435Thr					SIM1_uc010kcu.2_Missense_Mutation_p.A435T	p.A435T	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	10	1510	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	435			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1303G>A	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.248439	0.59103	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.33216	1.42;1.42	5.78	5.78	0.91487	Single-minded, C-terminal (2);	0.144833	0.64402	D	0.000007	T	0.10380	0.0254	N	0.19112	0.55	0.51767	D	0.99993	P	0.35807	0.522	B	0.23852	0.049	T	0.07986	-1.0744	10	0.21540	T	0.41	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	435	P81133	SIM1_HUMAN	T	435	ENSP00000358210:A435T;ENSP00000262901:A435T	ENSP00000262901:A435T	A	-	1	0	SIM1	100948351	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	4.564000	0.60830	2.731000	0.93534	0.655000	0.94253	GCC		0.617	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068	
ZNF727	442319	broad.mit.edu	37	7	63529345	63529345	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:63529345G>A	ENST00000550760.3	+	2	259	c.80G>A	c.(79-81)cGt>cAt	p.R27H	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						GCTCAGCAGCGTTTGTATAGG	0.393																																						uc011kdm.1																			0					0						c.(79-81)CGT>CAT		zinc finger protein 727							109.0	99.0	102.0					7																	63529345		692	1591	2283	SO:0001583	missense	442319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63529345G>A			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.80G>A	7.37:g.63529345G>A	ENSP00000447987:p.Arg27His						p.R27H	NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN			2	259	+			27			KRAB.			Missense_Mutation	SNP	ENST00000550760.3	37	c.80G>A	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	g	3.011	-0.203934	0.06180	.	.	ENSG00000257482	ENST00000550760	T	0.01767	4.65	0.149	-0.298	0.12814	Krueppel-associated box (4);	.	.	.	.	T	0.01061	0.0035	N	0.11023	0.085	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49184	-0.8966	8	.	.	.	.	5.316	0.15856	0.5268:0.0:0.4732:0.0	.	27	A8MUV8	ZN727_HUMAN	H	27	ENSP00000447987:R27H	.	R	+	2	0	ZNF727	63166780	0.000000	0.05858	0.025000	0.17156	0.025000	0.11179	-4.718000	0.00194	-3.310000	0.00190	-3.349000	0.00042	CGT		0.393	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522	
CALCR	799	broad.mit.edu	37	7	93108720	93108720	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:93108720C>T	ENST00000394441.1	-	3	466	c.151G>A	c.(151-153)Gca>Aca	p.A51T	CALCR_ENST00000359558.2_Missense_Mutation_p.A69T|CALCR_ENST00000360249.4_Missense_Mutation_p.A51T|CALCR_ENST00000421592.1_Missense_Mutation_p.A51T|CALCR_ENST00000426151.1_Missense_Mutation_p.A51T	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	69					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TTGTACTGTGCATCCATCATC	0.418																																						uc003umv.1																			0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(205-207)GCA>ACA		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						284.0	262.0	269.0					7																	93108720		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93108720C>T	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.151G>A	7.37:g.93108720C>T	ENSP00000377959:p.Ala51Thr					CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.A51T|CALCR_uc003umw.2_Missense_Mutation_p.A51T	p.A69T	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		4	466	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		51			Extracellular (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.205G>A	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196368	0.78902	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000535783;ENST00000394441;ENST00000426151	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.21	5.21	0.72293	.	.	.	.	.	T	0.66317	0.2777	M	0.63843	1.955	0.30330	N	0.786716	D;P	0.61697	0.99;0.81	P;P	0.62649	0.905;0.492	T	0.65537	-0.6144	9	0.72032	D	0.01	.	11.5471	0.50700	0.1782:0.8218:0.0:0.0	.	69;51	F5H605;A4D1G6	.;.	T	69;51;51;51;51;51	ENSP00000352561:A69T;ENSP00000353385:A51T;ENSP00000399552:A51T;ENSP00000377959:A51T;ENSP00000389295:A51T	ENSP00000352561:A69T	A	-	1	0	CALCR	92946656	0.962000	0.33011	0.414000	0.26521	0.056000	0.15407	1.584000	0.36589	2.890000	0.99128	0.650000	0.86243	GCA		0.418	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742	
TMEM130	222865	broad.mit.edu	37	7	98457803	98457803	+	Splice_Site	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:98457803C>T	ENST00000416379.2	-	3	554	c.550G>A	c.(550-552)Ggg>Agg	p.G184R	TMEM130_ENST00000345589.4_Splice_Site_p.G82R|TMEM130_ENST00000546258.1_Splice_Site_p.G165R|TMEM130_ENST00000450876.1_Splice_Site_p.G100R|TMEM130_ENST00000339375.4_Splice_Site_p.G184R			Q8N3G9	TM130_HUMAN	transmembrane protein 130	184	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGACCTACCCGTCCCCGAAG	0.557																																						uc003upo.2																			0				ovary(1)|central_nervous_system(1)	2						c.(550-552)GGG>AGG		transmembrane protein 130 isoform a							66.0	60.0	62.0					7																	98457803		2203	4300	6503	SO:0001630	splice_region_variant	222865					Golgi membrane|integral to membrane		g.chr7:98457803C>T		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.551+1G>A	7.37:g.98457803C>T						TMEM130_uc011kiq.1_Missense_Mutation_p.G165R|TMEM130_uc011kir.1_Missense_Mutation_p.G184R|TMEM130_uc003upn.2_Missense_Mutation_p.G82R	p.G184R	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		3	739	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		184			Extracellular (Potential).|PKD.		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	ENST00000416379.2	37	c.550G>A	CCDS47650.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075479	0.55646	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28	4.27	4.27	0.50696	PKD domain (3);	0.000000	0.85682	D	0.000000	T	0.73377	0.3579	M	0.65498	2.005	0.50467	D	0.999871	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.76699	-0.2863	10	0.66056	D	0.02	-25.2502	15.0099	0.71542	0.0:1.0:0.0:0.0	.	184;165;184;82	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	R	184;184;100;82;165	ENSP00000413163:G184R;ENSP00000341256:G184R;ENSP00000390200:G100R;ENSP00000330262:G82R;ENSP00000445869:G165R	ENSP00000341256:G184R	G	-	1	0	TMEM130	98295739	0.996000	0.38824	0.972000	0.41901	0.015000	0.08874	4.051000	0.57412	2.313000	0.78055	0.650000	0.86243	GGG		0.557	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913	Missense_Mutation
LAMB4	22798	broad.mit.edu	37	7	107745023	107745023	+	Silent	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:107745023C>T	ENST00000388781.3	-	9	995	c.912G>A	c.(910-912)ccG>ccA	p.P304P	LAMB4_ENST00000418464.1_Silent_p.P304P|LAMB4_ENST00000388780.3_Silent_p.P304P|LAMB4_ENST00000205386.4_Silent_p.P304P|LAMB4_ENST00000414450.2_Silent_p.P304P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	304	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTCACAGTTCGGACCATCTG	0.522																																						uc010ljo.1																			0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(910-912)CCG>CCA		laminin, beta 4 precursor							239.0	210.0	220.0					7																	107745023		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107745023C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.912G>A	7.37:g.107745023C>T						LAMB4_uc003vey.2_Silent_p.P304P	p.P304P	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			9	996	-			304			Laminin EGF-like 1.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.912G>A	CCDS34732.1																																																																																				0.522	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
UBE3C	9690	broad.mit.edu	37	7	157041080	157041081	+	In_Frame_Ins	INS	-	-	TGG			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:157041080_157041081insTGG	ENST00000348165.5	+	19	2860_2861	c.2500_2501insTGG	c.(2500-2502)ctg>cTGGtg	p.835_836insV		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	835	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGAGAACATGCTGGTGGAGCTG	0.47																																						uc010lqs.2																			0				ovary(2)|lung(2)|large_intestine(1)	5						c.(2500-2502)CTG>CTGGTG		ubiquitin protein ligase E3C																																				SO:0001652	inframe_insertion	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:157041080_157041081insTGG	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2504_2506dupTGG	7.37:g.157041084_157041086dupTGG	ENSP00000309198:p.Val835_Val835dup					UBE3C_uc003wni.3_In_Frame_Ins_p.198_199insV	p.835_836insV	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	19	2812_2813	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	835_836			HECT.		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	In_Frame_Ins	INS	ENST00000348165.5	37	c.2500_2501insTGG	CCDS34789.1																																																																																				0.470	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
RP1L1	94137	broad.mit.edu	37	8	10467799	10467799	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr8:10467799G>A	ENST00000382483.3	-	4	4032	c.3809C>T	c.(3808-3810)gCc>gTc	p.A1270V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1270					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCATTGGTGGCACAAGCGCA	0.517																																						uc003wtc.2																			0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3808-3810)GCC>GTC		retinitis pigmentosa 1-like 1							132.0	134.0	133.0					8																	10467799		2060	4200	6260	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10467799G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3809C>T	8.37:g.10467799G>A	ENSP00000371923:p.Ala1270Val						p.A1270V	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4038	-			1270					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3809C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991407	0.54041	.	.	ENSG00000183638	ENST00000382483	T	0.05081	3.5	4.08	0.917	0.19380	.	0.232534	0.22242	N	0.062663	T	0.05090	0.0136	L	0.32530	0.975	0.09310	N	1	D	0.52996	0.957	P	0.44811	0.461	T	0.34527	-0.9825	10	0.46703	T	0.11	-8.6546	3.7301	0.08489	0.0971:0.1634:0.572:0.1675	.	1270	A6NKC6	.	V	1270	ENSP00000371923:A1270V	ENSP00000371923:A1270V	A	-	2	0	RP1L1	10505209	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	0.256000	0.18351	0.443000	0.26582	0.561000	0.74099	GCC		0.517	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
CSMD3	114788	broad.mit.edu	37	8	113420591	113420591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr8:113420591G>T	ENST00000297405.5	-	34	5805	c.5561C>A	c.(5560-5562)tCa>tAa	p.S1854*	CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S1814*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S1750*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1854	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTCCAACTGAAGTAAATCG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5560-5562)TCA>TAA		CUB and Sushi multiple domains 3 isoform 1							174.0	171.0	172.0					8																	113420591		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113420591G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5561C>A	8.37:g.113420591G>T	ENSP00000297405:p.Ser1854*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Nonsense_Mutation_p.S1814*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S1750*	p.S1854*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			34	5720	-			1854			Extracellular (Potential).|CUB 10.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.5561C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	45	11.565261	0.99576	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883	.	.	.	4.98	4.1	0.47936	.	0.200829	0.34314	N	0.004077	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5122	0.61519	0.0753:0.0:0.9247:0.0	.	.	.	.	X	1814;1854;1750	.	ENSP00000297405:S1854X	S	-	2	0	CSMD3	113489767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.601000	0.98297	1.456000	0.47831	0.591000	0.81541	TCA		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
ANKRD18A	253650	broad.mit.edu	37	9	38586191	38586191	+	Silent	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr9:38586191G>A	ENST00000399703.5	-	12	2610	c.2236C>T	c.(2236-2238)Cta>Tta	p.L746L		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	746										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						TTCTGTTTTAGCTTCTTAAAC	0.303																																						uc004abf.1																			0											c.(1267-1269)CTA>TTA		RecName: Full=Ankyrin repeat domain-containing protein 18B;							22.0	18.0	19.0					9																	38586191		692	1570	2262	SO:0001819	synonymous_variant	0							g.chr9:38586191G>A	AB095935	CCDS55311.1	9p13.1	2013-01-10			ENSG00000180071	ENSG00000180071		"""Ankyrin repeat domain containing"""	23643	protein-coding gene	gene with protein product							Standard	NM_147195		Approved	KIAA2015, FLJ35740	uc004abg.4	Q8IVF6	OTTHUMG00000019950	ENST00000399703.5:c.2236C>T	9.37:g.38586191G>A						uc004abg.3_Silent_p.L746L	p.L423L							4	1300	-								A7MD11|A8MVU5|Q5SY86|Q7Z468|Q8NA88	Silent	SNP	ENST00000399703.5	37	c.1267C>T	CCDS55311.1																																																																																				0.303	ANKRD18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052506.3		
ELK1	2002	broad.mit.edu	37	X	47509844	47509844	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chrX:47509844G>A	ENST00000247161.3	-	0	43				ELK1_ENST00000343894.4_De_novo_Start_OutOfFrame|UXT_ENST00000460840.1_5'Flank|ELK1_ENST00000592066.1_De_novo_Start_OutOfFrame|ELK1_ENST00000468956.1_5'UTR|ELK1_ENST00000376983.3_De_novo_Start_OutOfFrame	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family						cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGGCGGTGGCGTTGGCAATGT	0.726																																						uc004dik.3																			0				ovary(2)	2						c.(-164--160)AACGC>AATGC		ELK1 protein							34.0	35.0	34.0					X																	47509844		876	1991	2867			2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47509844G>A	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.-57C>T	X.37:g.47509844G>A						ELK1_uc010nhv.2_Translation_Start_Site|ELK1_uc010nhw.2_Translation_Start_Site|ELK1_uc004dil.3_RNA		NM_001114123	NP_001107595	P19419	ELK1_HUMAN			1	160	-								B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Translation_Start_Site	SNP	ENST00000247161.3	37	c.-162C>T	CCDS14283.1																																																																																				0.726	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229	
PNMA3	29944	broad.mit.edu	37	X	152226004	152226004	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chrX:152226004G>A	ENST00000370264.4	+	1	618	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PNMA3_ENST00000370265.4_Missense_Mutation_p.E198K|PNMA3_ENST00000447306.1_Missense_Mutation_p.E198K			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	198					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcaggtgcccgagggggaaaa	0.577																																						uc004fhc.2																			0				skin(2)|large_intestine(1)	3						c.(592-594)GAG>AAG		paraneoplastic cancer-testis-brain antigen							63.0	62.0	62.0					X																	152226004		2203	4300	6503	SO:0001583	missense	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152226004G>A	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.592G>A	X.37:g.152226004G>A	ENSP00000359286:p.Glu198Lys					PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank	p.E198K	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN			2	928	+	Acute lymphoblastic leukemia(192;6.56e-05)		198					D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	c.592G>A	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	g	14.91	2.676616	0.47886	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.14144	2.53;2.53;2.53	1.98	1.98	0.26296	.	.	.	.	.	T	0.30166	0.0756	M	0.73430	2.235	0.09310	N	1	D	0.76494	0.999	D	0.63488	0.915	T	0.03795	-1.1003	9	0.62326	D	0.03	.	6.8643	0.24084	0.0:0.0:1.0:0.0	.	198	Q9UL41	PNMA3_HUMAN	K	198	ENSP00000359288:E198K;ENSP00000407642:E198K;ENSP00000359286:E198K	ENSP00000359286:E198K	E	+	1	0	PNMA3	151976660	0.076000	0.21285	0.005000	0.12908	0.005000	0.04900	2.435000	0.44811	1.297000	0.44761	0.464000	0.42555	GAG		0.577	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364	
