#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LCN1	3933	broad.mit.edu	37	9	138415819	138415819	+	Missense_Mutation	SNP	G	G	A	rs199573452		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:138415819G>A	ENST00000263598.2	+	4	446	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	LCN1_ENST00000371781.3_Missense_Mutation_p.R129Q	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	129					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AAGCCGGTCCGAGGGGTGAAG	0.642																																						ENST00000263598.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13						c.(385-387)cGa>cAa		lipocalin 1							75.0	63.0	67.0					9																	138415819		2203	4300	6503	SO:0001583	missense	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138415819G>A		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.386G>A	9.37:g.138415819G>A	ENSP00000263598:p.Arg129Gln					LCN1_ENST00000371781.3_Missense_Mutation_p.R129Q	p.R129Q	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	4	446	+		Myeloproliferative disorder(178;0.0511)	129					Q5T8A1	Missense_Mutation	SNP	ENST00000263598.2	37	c.386G>A	CCDS6991.1	.	.	.	.	.	.	.	.	.	.	G	8.074	0.770937	0.15983	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	T;T	0.08008	3.14;3.14	3.11	-2.31	0.06765	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.672980	0.04586	N	0.395796	T	0.06416	0.0165	L	0.51422	1.61	0.09310	N	1	B	0.32604	0.377	B	0.17722	0.019	T	0.35724	-0.9777	10	0.21014	T	0.42	.	3.6261	0.08113	0.4476:0.0:0.3785:0.174	.	129	P31025	LCN1_HUMAN	Q	129	ENSP00000263598:R129Q;ENSP00000360846:R129Q	ENSP00000263598:R129Q	R	+	2	0	LCN1	137555640	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.719000	0.04974	-0.590000	0.05866	-1.534000	0.00916	CGA		0.642	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		29	32	0	0	0	1	0	29	32				
OR1A1	8383	broad.mit.edu	37	17	3119151	3119151	+	Silent	SNP	T	T	C			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr17:3119151T>C	ENST00000304094.1	+	1	237	c.237T>C	c.(235-237)ccT>ccC	p.P79P		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TAACCATCCCTAAGATGCTGG	0.478																																						ENST00000304094.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(235-237)ccT>ccC		olfactory receptor, family 1, subfamily A, member 1							191.0	161.0	171.0					17																	3119151		2203	4300	6503	SO:0001819	synonymous_variant	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119151T>C	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.237T>C	17.37:g.3119151T>C							p.P79P	NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN			1	237	+			79					A5D914|Q6IFM1|Q6NTA9|Q96R87	Silent	SNP	ENST00000304094.1	37	c.237T>C	CCDS11022.1																																																																																				0.478	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		4	133	0	0	0	1	0	4	133				
KDM4C	23081	broad.mit.edu	37	9	6805637	6805637	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:6805637T>G	ENST00000381309.3	+	3	748	c.183T>G	c.(181-183)taT>taG	p.Y61*	KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Nonsense_Mutation_p.Y83*|KDM4C_ENST00000381306.3_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000401787.3_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000543771.1_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000536108.1_De_novo_Start_OutOfFrame	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	61					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GACAGTGCTATGATGACATTG	0.368																																						ENST00000381309.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(181-183)taT>taG		lysine (K)-specific demethylase 4C							103.0	94.0	97.0					9																	6805637		2203	4300	6503	SO:0001587	stop_gained	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6805637T>G	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.183T>G	9.37:g.6805637T>G	ENSP00000370710:p.Tyr61*					KDM4C_ENST00000381306.3_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000401787.3_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000535193.1_Nonsense_Mutation_p.Y83*|KDM4C_ENST00000536108.1_De_novo_Start_OutOfFrame|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000543771.1_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000442236.2_Intron	p.Y61*	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN			3	748	+			61					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Nonsense_Mutation	SNP	ENST00000381309.3	37	c.183T>G	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	T	43	10.517482	0.99420	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000401787;ENST00000381309;ENST00000381306	.	.	.	5.72	3.4	0.38934	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3538	9.952	0.41645	0.0:0.1362:0.0:0.8638	.	.	.	.	X	83;61;61;61;61	.	ENSP00000370707:Y61X	Y	+	3	2	KDM4C	6795637	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.902000	0.28459	0.462000	0.27095	-0.262000	0.10625	TAT		0.368	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		30	34	0	0	0	1	0	30	34				
DCSTAMP	81501	broad.mit.edu	37	8	105361447	105361447	+	Missense_Mutation	SNP	G	G	A	rs566008351		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr8:105361447G>A	ENST00000297581.2	+	2	716	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.V223I|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	223					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GCTTTCGCTCGTCCTGCTTGG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		19982	0.0		0.0	False		,,,				2504	0.001					ENST00000297581.2																			0											c.(667-669)Gtc>Atc		dendrocyte expressed seven transmembrane protein							101.0	92.0	95.0					8																	105361447		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361447G>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.667G>A	8.37:g.105361447G>A	ENSP00000297581:p.Val223Ile					DCSTAMP_ENST00000517991.1_Missense_Mutation_p.V223I|DPYS_ENST00000521601.1_Intron	p.V223I	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN			2	716	+			223					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.667G>A	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	3.064	-0.192521	0.06259	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.28454	1.61	5.52	-0.195	0.13236	.	0.320797	0.34268	N	0.004119	T	0.14227	0.0344	N	0.20401	0.57	0.09310	N	1	B	0.18610	0.029	B	0.11329	0.006	T	0.19549	-1.0302	9	.	.	.	-3.6069	5.0882	0.14694	0.3337:0.2535:0.4127:0.0	.	223	Q9H295	TM7S4_HUMAN	I	223	ENSP00000297581:V223I	.	V	+	1	0	TM7SF4	105430623	0.428000	0.25522	0.001000	0.08648	0.411000	0.31082	0.495000	0.22483	-0.340000	0.08388	-0.234000	0.12200	GTC		0.498	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		5	108	0	0	0	1	0	5	108				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.G539A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1615-1617)gGg>gCg									53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	0							g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.G539A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		7	188	0	0	0	1	0	7	188				
CSMD3	114788	broad.mit.edu	37	8	113364708	113364708	+	Silent	SNP	A	A	G			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr8:113364708A>G	ENST00000297405.5	-	39	6436	c.6192T>C	c.(6190-6192)atT>atC	p.I2064I	CSMD3_ENST00000352409.3_Silent_p.I1994I|CSMD3_ENST00000343508.3_Silent_p.I2024I|CSMD3_ENST00000455883.2_Silent_p.I1960I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2064	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						ATCTGTCTCCAATTTTAATTC	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				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						c.(6190-6192)atT>atC		CUB and Sushi multiple domains 3							111.0	104.0	106.0					8																	113364708		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113364708A>G	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.6192T>C	8.37:g.113364708A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.I2024I|CSMD3_ENST00000455883.2_Silent_p.I1960I|CSMD3_ENST00000352409.3_Silent_p.I1994I	p.I2064I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			39	6436	-			2064			Sushi 11.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.6192T>C	CCDS6315.1																																																																																				0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	32	0	0	0	1	0	14	32				
NBAS	51594	broad.mit.edu	37	2	15564503	15564503	+	Missense_Mutation	SNP	G	G	A	rs144830164		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:15564503G>A	ENST00000281513.5	-	23	2538	c.2513C>T	c.(2512-2514)aCg>aTg	p.T838M	NBAS_ENST00000441750.1_Missense_Mutation_p.T838M	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	838					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTCTCCACCGTAAGCTGGGT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19989	0.0		0.0	False		,,,				2504	0.0					ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2512-2514)aCg>aTg		neuroblastoma amplified sequence		G	MET/THR	4,4402	8.1+/-20.4	0,4,2199	193.0	148.0	163.0		2513	5.4	0.0	2	dbSNP_134	163	0,8600		0,0,4300	yes	missense	NBAS	NM_015909.2	81	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	possibly-damaging	838/2372	15564503	4,13002	2203	4300	6503	SO:0001583	missense	51594							g.chr2:15564503G>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2513C>T	2.37:g.15564503G>A	ENSP00000281513:p.Thr838Met					NBAS_ENST00000441750.1_Missense_Mutation_p.T838M	p.T838M	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			23	2538	-			838					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.2513C>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.74|14.74	2.626827|2.626827	0.46840|0.46840	9.08E-4|9.08E-4	0.0|0.0	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513;ENST00000441755	.|T;T;T	.|0.27720	.|2.24;2.24;1.65	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Secretory pathway Sec39 (1);	.|0.532999	.|0.22829	.|N	.|0.055124	T|T	0.38799|0.38799	0.1054|0.1054	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	.|P;P	.|0.48834	.|0.872;0.916	.|B;P	.|0.48368	.|0.36;0.575	T|T	0.28713|0.28713	-1.0035|-1.0035	5|10	.|0.87932	.|D	.|0	.|.	19.1221|19.1221	0.93367|0.93367	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|838;838	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	W|M	6|838;838;5	.|ENSP00000413201:T838M;ENSP00000281513:T838M;ENSP00000396501:T5M	.|ENSP00000281513:T838M	R|T	-|-	1|2	2|0	NBAS|NBAS	15481954|15481954	0.998000|0.998000	0.40836|0.40836	0.005000|0.005000	0.12908|0.12908	0.114000|0.114000	0.19823|0.19823	5.519000|5.519000	0.67074|0.67074	2.531000|2.531000	0.85337|0.85337	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.478	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		25	26	0	0	0	1	0	25	26				
NEB	4703	broad.mit.edu	37	2	152483595	152483595	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:152483595G>A	ENST00000172853.10	-	66	9686	c.9539C>T	c.(9538-9540)cCg>cTg	p.P3180L	NEB_ENST00000603639.1_Missense_Mutation_p.P3423L|NEB_ENST00000427231.2_Missense_Mutation_p.P3423L|NEB_ENST00000409198.1_Missense_Mutation_p.P3180L|NEB_ENST00000604864.1_Missense_Mutation_p.P3423L|NEB_ENST00000397345.3_Missense_Mutation_p.P3423L			P20929	NEBU_HUMAN	nebulin	3180					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGCTTGTCCGGAGGCTGGCG	0.502																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(10267-10269)cCg>cTg		nebulin							129.0	130.0	130.0					2																	152483595		2057	4225	6282	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152483595G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9539C>T	2.37:g.152483595G>A	ENSP00000172853:p.Pro3180Leu					NEB_ENST00000603639.1_Missense_Mutation_p.P3423L|NEB_ENST00000604864.1_Missense_Mutation_p.P3423L|NEB_ENST00000427231.2_Missense_Mutation_p.P3423L|NEB_ENST00000172853.10_Missense_Mutation_p.P3180L|NEB_ENST00000409198.1_Missense_Mutation_p.P3180L	p.P3423L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	70	10470	-			3423					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.10268C>T		.	.	.	.	.	.	.	.	.	.	G	21.2	4.115887	0.77323	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.10382	2.9;2.96;2.91;2.88	5.39	5.39	0.77823	.	0.104975	0.64402	D	0.000003	T	0.18882	0.0453	M	0.75447	2.3	0.80722	D	1	P	0.51933	0.949	B	0.41412	0.356	T	0.02639	-1.1130	10	0.48119	T	0.1	.	19.5244	0.95197	0.0:0.0:1.0:0.0	.	3180	P20929	NEBU_HUMAN	L	3180;3423;3423;3180	ENSP00000386259:P3180L;ENSP00000380505:P3423L;ENSP00000416578:P3423L;ENSP00000172853:P3180L	ENSP00000172853:P3180L	P	-	2	0	NEB	152191841	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	9.639000	0.98448	2.687000	0.91594	0.655000	0.94253	CCG		0.502	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	103	0	0	0	1	0	4	103				
SLC7A13	157724	broad.mit.edu	37	8	87229764	87229764	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr8:87229764T>G	ENST00000297524.3	-	3	1217	c.1114A>C	c.(1114-1116)Ata>Cta	p.I372L	SLC7A13_ENST00000419776.2_Missense_Mutation_p.I363L|SLC7A13_ENST00000520624.1_5'Flank	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	372						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTAATAATATAGACCATAAT	0.323																																						ENST00000297524.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						c.(1114-1116)Ata>Cta		solute carrier family 7 (anionic amino acid transporter), member 13							31.0	37.0	35.0					8																	87229764		2193	4292	6485	SO:0001583	missense	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229764T>G	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1114A>C	8.37:g.87229764T>G	ENSP00000297524:p.Ile372Leu					SLC7A13_ENST00000419776.2_Missense_Mutation_p.I363L	p.I372L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN			3	1217	-			372					Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	c.1114A>C	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	T	4.991	0.184084	0.09495	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90069	-2.61;-2.61	5.03	-3.65	0.04502	.	1.867780	0.03199	N	0.174539	T	0.63236	0.2494	N	0.00554	-1.385	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.57376	-0.7822	10	0.34782	T	0.22	.	0.5841	0.00717	0.2111:0.2977:0.2393:0.2519	.	363;372	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	L	372;363	ENSP00000297524:I372L;ENSP00000410982:I363L	ENSP00000297524:I372L	I	-	1	0	SLC7A13	87298880	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.186000	0.03070	-0.955000	0.03636	-1.357000	0.01221	ATA		0.323	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		16	20	0	0	0	1	0	16	20				
FARS2	10667	broad.mit.edu	37	6	5771549	5771549	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:5771549C>T	ENST00000324331.6	+	7	1579	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	FARS2_ENST00000274680.4_Missense_Mutation_p.R415C			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	415	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCACTGCTACCGCATCACGTA	0.592																																						ENST00000324331.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(1243-1245)Cgc>Tgc		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						148.0	110.0	123.0					6																	5771549		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5771549C>T	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1243C>T	6.37:g.5771549C>T	ENSP00000316335:p.Arg415Cys					FARS2_ENST00000274680.4_Missense_Mutation_p.R415C	p.R415C			O95363	SYFM_HUMAN			7	1579	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	415			FDX-ACB.		B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.1243C>T	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987620	0.93106	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.80824	-1.42;-1.42	5.81	5.81	0.92471	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.066582	0.64402	D	0.000012	D	0.92064	0.7485	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.93511	0.6853	10	0.87932	D	0	-30.9009	18.6464	0.91411	0.0:1.0:0.0:0.0	.	415	O95363	SYFM_HUMAN	C	415	ENSP00000274680:R415C;ENSP00000316335:R415C	ENSP00000274680:R415C	R	+	1	0	FARS2	5716548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.724000	0.74747	2.746000	0.94184	0.655000	0.94253	CGC		0.592	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		28	36	0	0	0	1	0	28	36				
DIDO1	11083	broad.mit.edu	37	20	61527924	61527924	+	Silent	SNP	C	C	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr20:61527924C>T	ENST00000266070.4	-	7	2338	c.2013G>A	c.(2011-2013)cgG>cgA	p.R671R	DIDO1_ENST00000395335.2_Silent_p.R671R|DIDO1_ENST00000395340.1_Silent_p.R671R|DIDO1_ENST00000395343.1_Silent_p.R671R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	671	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGATATTTTGCCGAATTTGTG	0.478																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(2011-2013)cgG>cgA		death inducer-obliterator 1							107.0	124.0	118.0					20																	61527924		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61527924C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2013G>A	20.37:g.61527924C>T						DIDO1_ENST00000395343.1_Silent_p.R671R|DIDO1_ENST00000395340.1_Silent_p.R671R|DIDO1_ENST00000395335.2_Silent_p.R671R	p.R671R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			7	2338	-	Breast(26;5.68e-08)		671			TFIIS central.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.2013G>A	CCDS33506.1																																																																																				0.478	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	167	0	0	0	1	0	4	167				
SLC26A10	65012	broad.mit.edu	37	12	58014090	58014090	+	Silent	SNP	C	C	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr12:58014090C>T	ENST00000320442.4	+	1	398	c.87C>T	c.(85-87)tcC>tcT	p.S29S	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|SLC26A10_ENST00000379218.2_Silent_p.S29S|AC025165.8_ENST00000593846.1_RNA	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	29						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					AGGCCCCCTCCCCACAGCACA	0.547																																						ENST00000379218.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(85-87)tcC>tcT		solute carrier family 26, member 10							408.0	366.0	381.0					12																	58014090		2203	4300	6503	SO:0001819	synonymous_variant	65012					integral to membrane	antiporter activity	g.chr12:58014090C>T		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.87C>T	12.37:g.58014090C>T						SLC26A10_ENST00000320442.4_Silent_p.S29S	p.S29S			Q8NG04	S2610_HUMAN			1	398	+	Melanoma(17;0.122)		29					A6NMJ2|B6ZDQ3|Q6ZWI7	Silent	SNP	ENST00000320442.4	37	c.87C>T	CCDS8949.2																																																																																				0.547	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			8	518	0	0	0	1	0	8	518				
C5orf34	375444	broad.mit.edu	37	5	43506078	43506078	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr5:43506078T>C	ENST00000306862.2	-	4	1079	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	235										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GACCCATGTGTATACACATGT	0.413																																						ENST00000306862.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(703-705)tAc>tGc		chromosome 5 open reading frame 34							135.0	132.0	133.0					5																	43506078		2203	4300	6503	SO:0001583	missense	375444							g.chr5:43506078T>C	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.704A>G	5.37:g.43506078T>C	ENSP00000303490:p.Tyr235Cys					RP11-159F24.3_ENST00000505645.1_RNA	p.Y235C	NM_198566.2	NP_940968.1	Q96MH7	CE034_HUMAN			4	1079	-	Lung NSC(6;2.07e-05)		235						Missense_Mutation	SNP	ENST00000306862.2	37	c.704A>G	CCDS3946.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.925536	0.34002	.	.	ENSG00000172244	ENST00000306862;ENST00000509489	T	0.57752	0.38	5.14	5.14	0.70334	.	0.405837	0.28332	N	0.015728	T	0.63593	0.2524	L	0.49640	1.575	0.09310	N	0.999991	D	0.76494	0.999	D	0.66351	0.943	T	0.56505	-0.7968	10	0.30854	T	0.27	-2.7018	13.5616	0.61793	0.0:0.0:0.0:1.0	.	235	Q96MH7	CE034_HUMAN	C	235;121	ENSP00000303490:Y235C	ENSP00000303490:Y235C	Y	-	2	0	C5orf34	43541835	0.588000	0.26799	0.041000	0.18516	0.252000	0.25951	5.172000	0.65003	1.954000	0.56735	0.482000	0.46254	TAC		0.413	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		54	70	0	0	0	1	0	54	70				
CIB2	10518	broad.mit.edu	37	15	78401696	78401696	+	Missense_Mutation	SNP	G	G	A	rs147498144		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr15:78401696G>A	ENST00000258930.3	-	4	555	c.227C>T	c.(226-228)gCg>gTg	p.A76V	CIB2_ENST00000560618.1_Missense_Mutation_p.A33V|CIB2_ENST00000539011.1_Missense_Mutation_p.A33V|CIB2_ENST00000557846.1_Missense_Mutation_p.A27V	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	76	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GGAAAACGCCGCCACGATCCT	0.552																																						ENST00000258930.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						c.(226-228)gCg>gTg		calcium and integrin binding family member 2		G	VAL/ALA	0,4392		0,0,2196	88.0	76.0	80.0		227	2.1	0.9	15	dbSNP_134	80	1,8585	1.2+/-3.3	0,1,4292	yes	missense	CIB2	NM_006383.2	64	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	benign	76/188	78401696	1,12977	2196	4293	6489	SO:0001583	missense	10518						calcium ion binding	g.chr15:78401696G>A	BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.227C>T	15.37:g.78401696G>A	ENSP00000258930:p.Ala76Val					CIB2_ENST00000557846.1_Missense_Mutation_p.A27V|CIB2_ENST00000539011.1_Missense_Mutation_p.A33V|CIB2_ENST00000560618.1_Missense_Mutation_p.A33V	p.A76V	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN			4	555	-			76			EF-hand 1.		B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	ENST00000258930.3	37	c.227C>T	CCDS10296.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240929	0.39598	0.0	1.16E-4	ENSG00000136425	ENST00000258930;ENST00000539011	T;T	0.68331	-0.32;2.88	4.63	2.07	0.26955	EF-hand-like domain (1);	0.124908	0.52532	D	0.000069	T	0.50973	0.1647	L	0.41492	1.28	0.25237	N	0.98979	P;P	0.37612	0.602;0.456	B;B	0.29524	0.083;0.103	T	0.47812	-0.9088	10	0.52906	T	0.07	-20.1622	11.1463	0.48432	0.0:0.0:0.2946:0.7054	.	76;76	B4DDF0;O75838	.;CIB2_HUMAN	V	76;33	ENSP00000258930:A76V;ENSP00000442459:A33V	ENSP00000258930:A76V	A	-	2	0	CIB2	76188751	1.000000	0.71417	0.853000	0.33588	0.235000	0.25334	3.362000	0.52314	0.730000	0.32425	-0.362000	0.07510	GCG		0.552	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289798.1	NM_006383		12	59	0	0	0	1	0	12	59				
PNPLA1	285848	broad.mit.edu	37	6	36260899	36260899	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:36260899G>A	ENST00000394571.2	+	3	500	c.500G>A	c.(499-501)gGt>gAt	p.G167D	PNPLA1_ENST00000312917.5_Missense_Mutation_p.G72D|PNPLA1_ENST00000388715.3_Missense_Mutation_p.G72D	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	167	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACTTACCGCGGTGTGGTGAGT	0.637																																						ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(499-501)gGt>gAt		patatin-like phospholipase domain containing 1							107.0	88.0	94.0					6																	36260899		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36260899G>A		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.500G>A	6.37:g.36260899G>A	ENSP00000378072:p.Gly167Asp					PNPLA1_ENST00000388715.3_Missense_Mutation_p.G72D|PNPLA1_ENST00000312917.5_Missense_Mutation_p.G72D	p.G167D	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			3	500	+			167			Patatin.		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.500G>A	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127050	0.77549	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.45	5.45	0.79879	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.64402	D	0.000003	D	0.89574	0.6754	M	0.74467	2.265	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90562	0.4516	10	0.87932	D	0	-15.5508	16.7917	0.85591	0.0:0.0:1.0:0.0	.	167;72	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	D	72;72;168;167	ENSP00000373367:G72D;ENSP00000321116:G72D;ENSP00000391868:G168D;ENSP00000378072:G167D	ENSP00000321116:G72D	G	+	2	0	PNPLA1	36368877	1.000000	0.71417	0.730000	0.30809	0.486000	0.33341	8.080000	0.89510	2.560000	0.86352	0.655000	0.94253	GGT		0.637	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		4	87	0	0	0	1	0	4	87				
KRTAP10-5	386680	broad.mit.edu	37	21	45999779	45999779	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr21:45999779C>A	ENST00000400372.1	-	1	702	c.677G>T	c.(676-678)cGc>cTc	p.R226L	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	226	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GCATATGGGGCGGCAGAGGAG	0.682																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(676-678)cGc>cTc		keratin associated protein 10-5							67.0	78.0	74.0					21																	45999779		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999779C>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.677G>T	21.37:g.45999779C>A	ENSP00000383223:p.Arg226Leu					TSPEAR_ENST00000323084.4_Intron	p.R226L	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	702	-			226			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.677G>T	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	c	11.71	1.721310	0.30503	.	.	ENSG00000241123	ENST00000400372	T	0.00949	5.51	3.39	0.791	0.18619	.	.	.	.	.	T	0.04770	0.0129	M	0.84511	2.7	0.26237	N	0.978927	D	0.69078	0.997	D	0.78314	0.991	T	0.17561	-1.0365	9	0.87932	D	0	.	6.5856	0.22618	0.0:0.615:0.0:0.385	.	226	P60370	KR105_HUMAN	L	226	ENSP00000383223:R226L	ENSP00000383223:R226L	R	-	2	0	KRTAP10-5	44824207	0.013000	0.17824	0.932000	0.37286	0.083000	0.17756	-0.207000	0.09384	0.184000	0.20083	-0.380000	0.06706	CGC		0.682	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			7	150	1	0	3.09899e-07	1	3.19583e-07	7	150				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	27	0	0	0	1	0	18	27				
KHDC1	80759	broad.mit.edu	37	6	73951385	73951385	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:73951385C>T	ENST00000370384.3	-	5	1081	c.581G>A	c.(580-582)aGt>aAt	p.S194N	KHDC1_ENST00000257765.5_Missense_Mutation_p.S121N|RP11-257K9.8_ENST00000423730.3_Intron	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	194						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						TGGTGGCACACTAATGGAGGT	0.537																																						ENST00000370384.3																			0				large_intestine(1)|lung(4)|skin(1)	6						c.(580-582)aGt>aAt		KH homology domain containing 1							107.0	110.0	109.0					6																	73951385		2056	4203	6259	SO:0001583	missense	80759					integral to membrane	RNA binding	g.chr6:73951385C>T		CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.581G>A	6.37:g.73951385C>T	ENSP00000359411:p.Ser194Asn					KHDC1_ENST00000257765.5_Missense_Mutation_p.S121N|RP11-257K9.8_ENST00000423730.3_Intron	p.S194N	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN			5	1081	-			194					Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	ENST00000370384.3	37	c.581G>A	CCDS59027.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.590931	0.28357	.	.	ENSG00000135314	ENST00000257765;ENST00000370384	T	0.38401	1.14	2.18	-4.37	0.03633	.	.	.	.	.	T	0.20129	0.0484	L	0.44542	1.39	0.09310	N	1	P	0.51449	0.945	D	0.63597	0.916	T	0.06679	-1.0813	9	0.34782	T	0.22	.	1.6309	0.02732	0.4878:0.2295:0.1538:0.1289	.	194	Q4VXA5	KHDC1_HUMAN	N	121;194	ENSP00000359411:S194N	ENSP00000257765:S121N	S	-	2	0	KHDC1	74008106	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.799000	0.01746	-1.410000	0.02035	0.561000	0.74099	AGT		0.537	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000148103.2	NM_030568		4	101	0	0	0	1	0	4	101				
YY2	404281	broad.mit.edu	37	X	21875533	21875533	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:21875533T>C	ENST00000429584.2	+	1	1429	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	311	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGAGAAGCCCTTTCAGTGCAC	0.557																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(931-933)Ttt>Ctt		YY2 transcription factor							180.0	178.0	178.0					X																	21875533		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875533T>C	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.931T>C	X.37:g.21875533T>C	ENSP00000389381:p.Phe311Leu					MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	p.F311L	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	1429	+			311			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.931T>C	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.109301	0.56398	.	.	ENSG00000230797	ENST00000429584	T	0.21932	1.98	4.6	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.36358	0.0964	L	0.53561	1.675	0.42444	D	0.992725	D	0.76494	0.999	P	0.62560	0.904	T	0.15607	-1.0431	10	0.72032	D	0.01	.	11.1009	0.48174	0.0:0.0:0.0:1.0	.	311	O15391	TYY2_HUMAN	L	311	ENSP00000389381:F311L	ENSP00000389381:F311L	F	+	1	0	YY2	21785454	1.000000	0.71417	0.139000	0.22197	0.019000	0.09904	7.868000	0.87116	1.821000	0.53095	0.441000	0.28932	TTT		0.557	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		6	497	0	0	0	1	0	6	497				
SLC35A2	7355	broad.mit.edu	37	X	48763802	48763802	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:48763802A>T	ENST00000247138.5	-	3	296	c.293T>A	c.(292-294)gTt>gAt	p.V98D	SLC35A2_ENST00000452555.2_Missense_Mutation_p.V126D|SLC35A2_ENST00000376521.1_Missense_Mutation_p.V98D|SLC35A2_ENST00000376512.1_Missense_Mutation_p.V98D|SLC35A2_ENST00000376529.3_Missense_Mutation_p.V98D|SLC35A2_ENST00000413561.2_Missense_Mutation_p.V37D|SLC35A2_ENST00000376515.3_Missense_Mutation_p.V74D|SLC35A2_ENST00000445167.2_Missense_Mutation_p.V98D	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	98					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAGGAAGAGAACCAGGTGCTT	0.552																																						ENST00000376521.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						c.(292-294)gTt>gAt		solute carrier family 35 (UDP-galactose transporter), member A2							139.0	100.0	113.0					X																	48763802		2203	4300	6503	SO:0001583	missense	7355				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	g.chrX:48763802A>T	D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.293T>A	X.37:g.48763802A>T	ENSP00000247138:p.Val98Asp					SLC35A2_ENST00000413561.2_Missense_Mutation_p.V37D|SLC35A2_ENST00000445167.2_Missense_Mutation_p.V98D|SLC35A2_ENST00000247138.5_Missense_Mutation_p.V98D|SLC35A2_ENST00000376515.3_Missense_Mutation_p.V74D|SLC35A2_ENST00000376529.3_Missense_Mutation_p.V98D|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V126D|SLC35A2_ENST00000376512.1_Missense_Mutation_p.V98D	p.V98D	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN			3	614	-			98					A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	ENST00000247138.5	37	c.293T>A	CCDS14311.1	.	.	.	.	.	.	.	.	.	.	A	13.46	2.244949	0.39697	.	.	ENSG00000102100	ENST00000247138;ENST00000376529;ENST00000376521;ENST00000445167;ENST00000413561;ENST00000376515;ENST00000452555;ENST00000446885;ENST00000376512	T;T;T;T;T	0.49139	0.79;0.8;0.86;0.8;0.88	5.57	4.39	0.52855	.	0.303339	0.30101	N	0.010416	T	0.41743	0.1172	L	0.38838	1.175	0.24227	N	0.99542	P;B;P;B;P;D;P;P	0.57899	0.645;0.283;0.839;0.163;0.667;0.981;0.806;0.907	P;B;P;B;P;P;B;P	0.52957	0.53;0.229;0.599;0.143;0.557;0.714;0.385;0.588	T	0.20605	-1.0270	10	0.11794	T	0.64	-5.7697	6.1882	0.20510	0.7891:0.0:0.2109:0.0	.	111;37;126;111;26;98;98;98	B4DSH7;B4DE11;E7EW45;B4DE15;Q8NBD6;P78381-3;P78381-2;P78381	.;.;.;.;.;.;.;S35A2_HUMAN	D	98;98;98;98;37;74;126;26;98	ENSP00000247138:V98D;ENSP00000365704:V98D;ENSP00000393233:V37D;ENSP00000416002:V126D;ENSP00000415518:V26D	ENSP00000247138:V98D	V	-	2	0	SLC35A2	48648746	0.074000	0.21230	0.953000	0.39169	0.757000	0.42996	1.331000	0.33793	0.726000	0.32339	0.486000	0.48141	GTT		0.552	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060790.1	NM_005660		18	31	0	0	0	1	0	18	31				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	38	0	0	0	1	0	3	38				
ORAI2	80228	broad.mit.edu	37	7	102087148	102087148	+	Silent	SNP	G	G	A	rs140584655		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr7:102087148G>A	ENST00000356387.2	+	4	649	c.414G>A	c.(412-414)ccG>ccA	p.P138P	ORAI2_ENST00000403646.3_Silent_p.P138P|ORAI2_ENST00000478730.2_Silent_p.P138P|ORAI2_ENST00000473939.1_Silent_p.P138P|ORAI2_ENST00000488996.1_3'UTR	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	138						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCGAGTCCCCGCATGAGCGCA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		20896	0.0		0.001	False		,,,				2504	0.0					ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(412-414)ccG>ccA		ORAI calcium release-activated calcium modulator 2		G	,	0,4406		0,0,2203	183.0	159.0	167.0		414,414	-1.2	0.9	7	dbSNP_134	167	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ORAI2	NM_001126340.1,NM_032831.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	138/255,138/255	102087148	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087148G>A	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.414G>A	7.37:g.102087148G>A						ORAI2_ENST00000473939.1_Silent_p.P138P|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.1_Silent_p.P138P|ORAI2_ENST00000403646.3_Silent_p.P138P	p.P138P	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	649	+			138					Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.414G>A	CCDS5722.1																																																																																				0.617	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		5	157	0	0	0	1	0	5	157				
RENBP	5973	broad.mit.edu	37	X	153209006	153209006	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:153209006G>A	ENST00000393700.3	-	5	534	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.R152W|RENBP_ENST00000369997.3_Missense_Mutation_p.R138W	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	152					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCTGGTACCGCACTTCCCCT	0.622																																						ENST00000393700.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(454-456)Cgg>Tgg		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						116.0	66.0	83.0					X																	153209006		2202	4300	6502	SO:0001583	missense	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153209006G>A		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.454C>T	X.37:g.153209006G>A	ENSP00000377303:p.Arg152Trp					RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.R152W|RENBP_ENST00000369997.3_Missense_Mutation_p.R138W	p.R152W	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN			5	534	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		152					B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	c.454C>T	CCDS14738.2	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767842	0.49680	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.32753	1.44;1.47;1.44	4.68	3.81	0.43845	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.482456	0.23060	N	0.052389	T	0.43211	0.1237	L	0.58302	1.8	0.09310	N	1	D;D	0.89917	1.0;0.999	P;P	0.57204	0.613;0.815	T	0.24835	-1.0149	10	0.51188	T	0.08	-2.0354	11.0387	0.47818	0.0965:0.0:0.9035:0.0	.	152;152	P51606-2;P51606	.;RENBP_HUMAN	W	152;152;138	ENSP00000377303:R152W;ENSP00000387811:R152W;ENSP00000359014:R138W	ENSP00000359014:R138W	R	-	1	2	RENBP	152862200	0.008000	0.16893	0.001000	0.08648	0.017000	0.09413	1.702000	0.37836	0.879000	0.35944	0.513000	0.50165	CGG		0.622	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		35	32	0	0	0	1	0	35	32				
CIC	23152	broad.mit.edu	37	19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr19:42799059C>T	ENST00000575354.2	+	20	4583	c.4543C>T	c.(4543-4545)Cgc>Tgc	p.R1515C	CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000572681.2_Missense_Mutation_p.R2421C	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(7261-7263)Cgc>Tgc		capicua transcriptional repressor							47.0	47.0	47.0					19																	42799059		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799059C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4543C>T	19.37:g.42799059C>T	ENSP00000458663:p.Arg1515Cys					CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000575354.2_Missense_Mutation_p.R1515C	p.R2421C			Q96RK0	CIC_HUMAN			21	7329	+		Prostate(69;0.00682)	1515					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.7261C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159893	0.57368	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	2.33	0.28932	.	.	.	.	.	T	0.52901	0.1763	L	0.29908	0.895	0.51233	D	0.999917	D	0.89917	1.0	D	0.76575	0.988	T	0.55811	-0.8082	8	0.87932	D	0	-10.1007	2.833	0.05506	0.1907:0.5252:0.184:0.1001	.	1515	Q96RK0	CIC_HUMAN	C	1515	.	ENSP00000160740:R1515C	R	+	1	0	CIC	47490899	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	2.109000	0.41863	1.232000	0.43678	0.491000	0.48974	CGC		0.632	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			39	7	0	0	0	1	0	39	7				
UNC13B	10497	broad.mit.edu	37	9	35399692	35399692	+	Missense_Mutation	SNP	G	G	A	rs371802270		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:35399692G>A	ENST00000378495.3	+	35	4277	c.4055G>A	c.(4054-4056)tGt>tAt	p.C1352Y	UNC13B_ENST00000378496.4_Missense_Mutation_p.C1352Y|UNC13B_ENST00000396787.1_Missense_Mutation_p.C1364Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1352	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAAAGCAGTGTGCAGTCCTT	0.522																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(4054-4056)tGt>tAt		unc-13 homolog B (C. elegans)		G	TYR/CYS	0,4406		0,0,2203	242.0	213.0	223.0		4055	5.4	1.0	9		223	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC13B	NM_006377.3	194	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1352/1592	35399692	1,13005	2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35399692G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4055G>A	9.37:g.35399692G>A	ENSP00000367756:p.Cys1352Tyr					UNC13B_ENST00000396787.1_Missense_Mutation_p.C1364Y|UNC13B_ENST00000378496.4_Missense_Mutation_p.C1352Y	p.C1352Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		35	4277	+	all_epithelial(49;0.212)		1352			MHD2.		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.4055G>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971940	0.92919	0.0	1.16E-4	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.74737	-0.87;-0.87;-0.87	5.44	5.44	0.79542	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.000000	0.85682	D	0.000000	D	0.87517	0.6197	M	0.81239	2.535	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.961;0.999	D	0.88351	0.2981	10	0.87932	D	0	-13.8756	19.4471	0.94852	0.0:0.0:1.0:0.0	.	1352;1352	F8W8M9;O14795	.;UN13B_HUMAN	Y	1364;1352;1352;939	ENSP00000380006:C1364Y;ENSP00000367756:C1352Y;ENSP00000367757:C1352Y	ENSP00000367756:C1352Y	C	+	2	0	UNC13B	35389692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.543000	0.98089	2.824000	0.97209	0.655000	0.94253	TGT		0.522	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		6	243	0	0	0	1	0	6	243				
APEH	327	broad.mit.edu	37	3	49723525	49723525	+	IGR	SNP	G	G	A	rs568019355		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr3:49723525G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000449682.2_Missense_Mutation_p.R373W|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTACAACGCCGGATCTGGTAG	0.687													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12914	0.0		0.0	False		,,,				2504	0.0					ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1117-1119)Cgg>Tgg		macrophage stimulating 1 (hepatocyte growth factor-like)							12.0	14.0	14.0					3																	49723525		2192	4286	6478	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723525G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723525G>A						MST1_ENST00000383728.3_3'UTR	p.R373W	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1478	-			359			Kringle 4.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1117C>T	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396372	0.83011	.	.	ENSG00000173531	ENST00000449682	T	0.63096	-0.02	5.4	4.44	0.53790	.	1.674430	0.03870	N	0.275445	T	0.74898	0.3777	L	0.58810	1.83	0.80722	D	1	D	0.59357	0.985	P	0.54815	0.761	T	0.65067	-0.6258	10	0.72032	D	0.01	.	14.7564	0.69567	0.0:0.0:0.7713:0.2287	.	373	G3XAK1	.	W	373	ENSP00000414287:R373W	ENSP00000414287:R373W	R	-	1	2	MST1	49698529	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	2.763000	0.47605	2.526000	0.85167	0.655000	0.94253	CGG		0.687	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	31	0	0	0	1	0	3	31				
MYOM1	8736	broad.mit.edu	37	18	3134811	3134811	+	Missense_Mutation	SNP	C	C	G	rs546357155	byFrequency	TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr18:3134811C>G	ENST00000356443.4	-	16	2554	c.2221G>C	c.(2221-2223)Gct>Cct	p.A741P	MYOM1_ENST00000261606.7_Missense_Mutation_p.A741P|MYOM1_ENST00000400569.3_Missense_Mutation_p.A741P	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	741	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGCCAGGAGCCTTGGGGATA	0.428													C|||	10	0.00199681	0.0	0.0	5008	,	,		17918	0.0		0.0	False		,,,				2504	0.0102					ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2221-2223)Gct>Cct		myomesin 1							103.0	98.0	99.0					18																	3134811		1865	4114	5979	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3134811C>G	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2221G>C	18.37:g.3134811C>G	ENSP00000348821:p.Ala741Pro					MYOM1_ENST00000261606.7_Missense_Mutation_p.A741P|MYOM1_ENST00000400569.3_Missense_Mutation_p.A741P	p.A741P	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			16	2554	-			741			Fibronectin type-III 3.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2221G>C	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	7.076	0.569253	0.13560	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.59502	0.26;0.26;0.26	5.68	-3.02	0.05446	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.536295	0.21918	N	0.067216	T	0.43567	0.1253	N	0.12637	0.245	0.29502	N	0.854837	B;B	0.13145	0.007;0.005	B;B	0.23574	0.028;0.047	T	0.32745	-0.9895	10	0.14656	T	0.56	.	28.9193	0.99999	0.0:0.1841:0.8159:0.0	.	741;741	P52179-2;P52179	.;MYOM1_HUMAN	P	741	ENSP00000348821:A741P;ENSP00000383413:A741P;ENSP00000261606:A741P	ENSP00000261606:A741P	A	-	1	0	MYOM1	3124811	0.103000	0.21917	0.035000	0.18076	0.938000	0.57974	0.032000	0.13732	-0.931000	0.03746	0.650000	0.86243	GCT		0.428	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		31	20	0	0	0	1	0	31	20				
EVX2	344191	broad.mit.edu	37	2	176948214	176948214	+	Missense_Mutation	SNP	C	C	G	rs575398101		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:176948214C>G	ENST00000308618.4	-	1	427	c.291G>C	c.(289-291)gaG>gaC	p.E97D		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	97					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCTTGCGGCTCTCGGCGGCGG	0.642																																						ENST00000308618.4																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(289-291)gaG>gaC		even-skipped homeobox 2							30.0	38.0	35.0					2																	176948214		2203	4299	6502	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176948214C>G		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.291G>C	2.37:g.176948214C>G	ENSP00000312385:p.Glu97Asp						p.E97D	NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	1	427	-			97						Missense_Mutation	SNP	ENST00000308618.4	37	c.291G>C	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	C	3.195	-0.165004	0.06502	.	.	ENSG00000174279	ENST00000308618	D	0.91068	-2.78	5.84	1.77	0.24775	.	0.320386	0.35179	N	0.003390	T	0.81922	0.4925	L	0.38175	1.15	0.37021	D	0.896225	B	0.12013	0.005	B	0.12156	0.007	T	0.69752	-0.5060	10	0.12430	T	0.62	-12.7058	7.6805	0.28511	0.0:0.3376:0.453:0.2094	.	97	Q03828	EVX2_HUMAN	D	97	ENSP00000312385:E97D	ENSP00000312385:E97D	E	-	3	2	EVX2	176656460	0.007000	0.16637	0.695000	0.30226	0.819000	0.46315	-0.925000	0.03992	0.311000	0.23014	0.561000	0.74099	GAG		0.642	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			17	47	0	0	0	1	0	17	47				
ACTG1	71	broad.mit.edu	37	17	79478017	79478017	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr17:79478017G>A	ENST00000575842.1	-	4	1346	c.920C>T	c.(919-921)cCg>cTg	p.P307L	ACTG1_ENST00000573283.1_Missense_Mutation_p.P307L|ACTG1_ENST00000331925.2_Missense_Mutation_p.P307L|ACTG1_ENST00000575087.1_Missense_Mutation_p.P307L|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	307					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGCAATGCCCGGGTACATGGT	0.607																																						ENST00000575842.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29						c.(919-921)cCg>cTg		actin, gamma 1							71.0	68.0	69.0					17																	79478017		2203	4300	6503	SO:0001583	missense	71				adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	g.chr17:79478017G>A		CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.920C>T	17.37:g.79478017G>A	ENSP00000458162:p.Pro307Leu					ACTG1_ENST00000331925.2_Missense_Mutation_p.P307L|ACTG1_ENST00000575087.1_Missense_Mutation_p.P307L|ACTG1_ENST00000573283.1_Missense_Mutation_p.P307L	p.P307L			P63261	ACTG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)		4	1346	-	all_neural(118;0.0878)|Melanoma(429;0.242)		307					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000575842.1	37	c.920C>T	CCDS11782.1	.	.	.	.	.	.	.	.	.	.	g	12.96	2.095106	0.36952	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.98221	-4.8	4.05	3.09	0.35607	.	0.000000	0.64402	D	0.000001	D	0.98137	0.9385	H	0.94306	3.52	0.80722	D	1	P	0.39737	0.685	B	0.40901	0.343	D	0.97808	1.0249	10	0.87932	D	0	.	10.8059	0.46518	0.095:0.0:0.905:0.0	.	307	P63261	ACTG_HUMAN	L	307;265	ENSP00000331514:P307L	ENSP00000331514:P307L	P	-	2	0	ACTG1	77092612	1.000000	0.71417	0.777000	0.31699	0.794000	0.44872	9.145000	0.94634	0.942000	0.37525	0.645000	0.84053	CCG		0.607	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439935.2	NM_001614		4	124	0	0	0	1	0	4	124				
NPIPB5	100132247	broad.mit.edu	37	16	22545540	22545558	+	Frame_Shift_Del	DEL	CGAGCGTCTGCGGGGGCCG	CGAGCGTCTGCGGGGGCCG	-	rs369022450		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG	ENST00000517539.1	+	8	1311_1329	c.1236_1254delCGAGCGTCTGCGGGGGCCG	c.(1234-1254)gccgagcgtctgcgggggccgfs	p.AERLRGP412fs	NPIPB5_ENST00000424340.1_Frame_Shift_Del_p.AERLRGP412fs|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	412	Pro-rich.					integral component of membrane (GO:0016021)											AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT	0.562																																						ENST00000424340.1																			0											c.(1234-1254)gcfs		nuclear pore complex interacting protein family, member B5																																				SO:0001589	frameshift_variant	100132247							g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1236_1254delCGAGCGTCTGCGGGGGCCG	16.37:g.22545540_22545558delCGAGCGTCTGCGGGGGCCG	ENSP00000430633:p.Ala412fs					NPIPB5_ENST00000517539.1_Frame_Shift_Del_p.AERLRGP412fs|NPIPB5_ENST00000415654.1_3'UTR	p.AERLRGP412fs	NM_001135865.1	NP_001129337.1					7	1515_1533	+								B4DK13	Frame_Shift_Del	DEL	ENST00000517539.1	37	c.1236_1254delCGAGCGTCTGCGGGGGCCG	CCDS45443.1																																																																																				0.562	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		3	4						3	4	---	---	---	---
CNN2	1265	broad.mit.edu	37	19	1026680	1026681	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr19:1026680_1026681delAC	ENST00000263097.4	+	1	383_384	c.20_21delAC	c.(19-21)aacfs	p.N7fs	CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000562958.2_Frame_Shift_Del_p.N7fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.N7fs|CNN2_ENST00000565096.2_Frame_Shift_Del_p.N7fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	7					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCAGTTCAACAAGGGCCCCT	0.762																																						ENST00000263097.4																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(19-21)afs		calponin 2																																				SO:0001589	frameshift_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1026680_1026681delAC	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.20_21delAC	19.37:g.1026680_1026681delAC	ENSP00000263097:p.Asn7fs					CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Del_p.N7fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.N7fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.N7fs	p.N7fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	383_384	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	7					A5D8U8|A6NFI4|D6W5X9|Q92578	Frame_Shift_Del	DEL	ENST00000263097.4	37	c.20_21delAC	CCDS12053.1																																																																																				0.762	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368		2	4						2	4	---	---	---	---
