#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
SLC25A32	81034	broad.mit.edu	37	8	104419928	104419928	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:104419928C>A	ENST00000297578.4	-	2	405	c.239G>T	c.(238-240)gGa>gTa	p.G80V	SLC25A32_ENST00000543107.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	80					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TTGATAAAGTCCCCGTAGTCC	0.393																																						ENST00000297578.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9						c.(238-240)gGa>gTa		solute carrier family 25 (mitochondrial folate carrier), member 32	Folic Acid(DB00158)						161.0	163.0	162.0					8																	104419928		2203	4300	6503	SO:0001583	missense	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104419928C>A	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.239G>T	8.37:g.104419928C>A	ENSP00000297578:p.Gly80Val					SLC25A32_ENST00000543107.1_5'UTR	p.G80V	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		2	405	-			80					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.239G>T	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092687	0.94149	.	.	ENSG00000164933	ENST00000297578;ENST00000424899	D	0.82984	-1.67	6.05	6.05	0.98169	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94231	0.8148	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94750	0.7926	10	0.87932	D	0	-21.7658	20.6013	0.99457	0.0:1.0:0.0:0.0	.	80	Q9H2D1	MFTC_HUMAN	V	80;64	ENSP00000297578:G80V	ENSP00000297578:G80V	G	-	2	0	SLC25A32	104489104	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.280000	0.78610	2.878000	0.98634	0.650000	0.86243	GGA		0.393	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		13	45	1	0	1.5842e-08	1	2.09609e-08	13	45				
LHX8	431707	broad.mit.edu	37	1	75602803	75602803	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:75602803G>A	ENST00000294638.5	+	4	788	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	LHX8_ENST00000559413.1_3'UTR|LHX8_ENST00000356261.3_Missense_Mutation_p.G32R	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	42					female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CGAGGGAGCGGGGGACGAGGA	0.721																																						ENST00000294638.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						c.(124-126)Ggg>Agg		LIM homeobox 8							24.0	28.0	27.0					1																	75602803		2202	4298	6500	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75602803G>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.124G>A	1.37:g.75602803G>A	ENSP00000294638:p.Gly42Arg					LHX8_ENST00000356261.3_Missense_Mutation_p.G32R|LHX8_ENST00000559413.1_3'UTR	p.G42R	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN			4	788	+			42					E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.124G>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339955	0.60963	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.86297	-2.1;-2.1	5.32	5.32	0.75619	.	0.229220	0.36338	N	0.002659	T	0.68035	0.2957	N	0.19112	0.55	0.29806	N	0.83206	P	0.38195	0.622	B	0.37346	0.247	T	0.68116	-0.5494	10	0.48119	T	0.1	.	11.2881	0.49234	0.0852:0.0:0.9148:0.0	.	42	Q68G74	LHX8_HUMAN	R	42;32	ENSP00000294638:G42R;ENSP00000348597:G32R	ENSP00000294638:G42R	G	+	1	0	LHX8	75375391	.	.	1.000000	0.80357	0.994000	0.84299	.	.	2.487000	0.83934	0.555000	0.69702	GGG		0.721	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		14	25	0	0	0	1	0	14	25				
MRGPRX1	259249	broad.mit.edu	37	11	18955940	18955940	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:18955940C>G	ENST00000302797.3	-	1	616	c.392G>C	c.(391-393)cGc>cCc	p.R131P	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	131					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGGTGGCAGCGGTACCAGAT	0.607																																						ENST00000302797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(391-393)cGc>cCc		MAS-related GPR, member X1							90.0	80.0	84.0					11																	18955940		2194	4286	6480	SO:0001583	missense	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18955940C>G		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.392G>C	11.37:g.18955940C>G	ENSP00000305766:p.Arg131Pro					MRGPRX1_ENST00000526914.1_5'UTR	p.R131P	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN			1	616	-			131					Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	ENST00000302797.3	37	c.392G>C	CCDS7846.1	.	.	.	.	.	.	.	.	.	.	.	15.82	2.945339	0.53079	.	.	ENSG00000170255	ENST00000302797	T	0.08370	3.1	2.28	-1.11	0.09840	GPCR, rhodopsin-like superfamily (1);	0.176763	0.40818	N	0.001008	T	0.22437	0.0541	M	0.80422	2.495	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.02751	-1.1115	10	0.66056	D	0.02	.	6.4352	0.21819	0.0:0.4404:0.0:0.5596	.	131	Q96LB2	MRGX1_HUMAN	P	131	ENSP00000305766:R131P	ENSP00000305766:R131P	R	-	2	0	MRGPRX1	18912516	0.000000	0.05858	0.718000	0.30602	0.405000	0.30901	-0.480000	0.06559	-0.258000	0.09446	0.491000	0.48974	CGC		0.607	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		34	58	0	0	0	1	0	34	58				
SPTB	6710	broad.mit.edu	37	14	65239950	65239950	+	Missense_Mutation	SNP	A	A	C	rs369839537		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:65239950A>C	ENST00000389721.5	-	24	5198	c.5166T>G	c.(5164-5166)ttT>ttG	p.F1722L	SPTB_ENST00000389720.3_Missense_Mutation_p.F1722L|SPTB_ENST00000389722.3_Missense_Mutation_p.F1722L|SPTB_ENST00000556626.1_Missense_Mutation_p.F1722L|SPTB_ENST00000542895.1_Missense_Mutation_p.F1722L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1722					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCACGTGGTCAAAGTCTTGCC	0.537																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(5164-5166)ttT>ttG		spectrin, beta, erythrocytic							80.0	70.0	73.0					14																	65239950		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65239950A>C		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5166T>G	14.37:g.65239950A>C	ENSP00000374371:p.Phe1722Leu					SPTB_ENST00000556626.1_Missense_Mutation_p.F1722L|SPTB_ENST00000542895.1_Missense_Mutation_p.F1722L|SPTB_ENST00000389720.3_Missense_Mutation_p.F1722L|SPTB_ENST00000389721.5_Missense_Mutation_p.F1722L	p.F1722L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	24	5219	-		all_lung(585;4.15e-09)	1722					Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.5166T>G	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.835869	0.32421	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	5.1	0.0243	0.14141	.	0.061271	0.64402	D	0.000002	T	0.11024	0.0269	N	0.00808	-1.17	0.41551	D	0.988579	B;B;B	0.16166	0.012;0.001;0.016	B;B;B	0.16289	0.009;0.015;0.015	T	0.10941	-1.0608	10	0.39692	T	0.17	.	9.5035	0.39033	0.6095:0.0:0.3905:0.0	.	506;1722;1726	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	L	1726;1722;506;387;1722;1722;1722;1722	ENSP00000374372:F1722L;ENSP00000451324:F387L;ENSP00000451752:F1722L;ENSP00000374371:F1722L;ENSP00000443882:F1722L;ENSP00000374370:F1722L	ENSP00000334218:F506L	F	-	3	2	SPTB	64309703	0.830000	0.29337	0.997000	0.53966	0.976000	0.68499	0.390000	0.20768	-0.161000	0.10983	0.459000	0.35465	TTT		0.537	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			6	33	0	0	0	1	0	6	33				
MEGF6	1953	broad.mit.edu	37	1	3421856	3421856	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:3421856G>A	ENST00000356575.4	-	17	2330	c.2104C>T	c.(2104-2106)Cca>Tca	p.P702S	MEGF6_ENST00000294599.4_Missense_Mutation_p.P597S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	702						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ACGCCCACTGGGCAGGTGCAT	0.692																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2104-2106)Cca>Tca		multiple EGF-like-domains 6							18.0	24.0	22.0					1																	3421856		2096	4213	6309	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3421856G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2104C>T	1.37:g.3421856G>A	ENSP00000348982:p.Pro702Ser					MEGF6_ENST00000294599.4_Missense_Mutation_p.P597S	p.P702S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	17	2330	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	702					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.2104C>T	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	G	8.551	0.875491	0.17395	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.27557	1.66;1.66	4.43	3.49	0.39957	.	0.188903	0.47093	D	0.000245	T	0.13798	0.0334	N	0.05441	-0.05	0.29942	N	0.82098	B;B	0.31274	0.053;0.317	B;B	0.28385	0.024;0.089	T	0.15492	-1.0435	10	0.06494	T	0.89	-6.4322	14.17	0.65503	0.0:0.1517:0.8483:0.0	.	702;597	O75095;O75095-2	MEGF6_HUMAN;.	S	597;702	ENSP00000294599:P597S;ENSP00000348982:P702S	ENSP00000294599:P597S	P	-	1	0	MEGF6	3411716	1.000000	0.71417	0.502000	0.27614	0.025000	0.11179	2.762000	0.47597	0.939000	0.37446	0.462000	0.41574	CCA		0.692	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		13	33	0	0	0	1	0	13	33				
GUCY1A2	2977	broad.mit.edu	37	11	106849364	106849364	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:106849364C>G	ENST00000526355.2	-	3	936	c.468G>C	c.(466-468)caG>caC	p.Q156H	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q156H|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q156H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	156					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	TAGCAGTACACTGAAGAATTC	0.368																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(466-468)caG>caC		guanylate cyclase 1, soluble, alpha 2							114.0	110.0	111.0					11																	106849364		2201	4298	6499	SO:0001583	missense	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106849364C>G	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.468G>C	11.37:g.106849364C>G	ENSP00000431245:p.Gln156His					GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q156H|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q156H	p.Q156H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	3	936	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	156					A1L4C4|B7ZLT5	Missense_Mutation	SNP	ENST00000526355.2	37	c.468G>C	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771871	0.49680	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	T;T;T	0.44881	0.91;0.91;0.91	5.73	3.87	0.44632	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.39687	U	0.001289	T	0.53318	0.1789	L	0.46157	1.445	0.44771	D	0.997771	D;B;D	0.67145	0.996;0.003;0.996	D;B;D	0.66979	0.948;0.019;0.948	T	0.50110	-0.8866	10	0.44086	T	0.13	.	11.8785	0.52560	0.0:0.8565:0.0:0.1435	.	156;156;156	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	H	156	ENSP00000431245:Q156H;ENSP00000282249:Q156H;ENSP00000344874:Q156H	ENSP00000282249:Q156H	Q	-	3	2	GUCY1A2	106354574	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	1.385000	0.34408	0.901000	0.36495	-0.150000	0.13652	CAG		0.368	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			4	17	0	0	0	1	0	4	17				
NRP1	8829	broad.mit.edu	37	10	33502571	33502571	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:33502571C>T	ENST00000265371.4	-	10	1882	c.1357G>A	c.(1357-1359)Ggg>Agg	p.G453R	NRP1_ENST00000374822.4_Missense_Mutation_p.G453R|NRP1_ENST00000374821.5_Missense_Mutation_p.G453R|NRP1_ENST00000395995.1_Missense_Mutation_p.G453R|NRP1_ENST00000374823.5_Missense_Mutation_p.G453R|NRP1_ENST00000432372.2_Missense_Mutation_p.G453R|NRP1_ENST00000374875.1_Missense_Mutation_p.G272R|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374867.2_Missense_Mutation_p.G453R|NRP1_ENST00000374816.3_Missense_Mutation_p.G453R			O14786	NRP1_HUMAN	neuropilin 1	453	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTTCTGTCCCCTTGGTTGGAT	0.488																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1357-1359)Ggg>Agg		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						137.0	127.0	131.0					10																	33502571		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33502571C>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1357G>A	10.37:g.33502571C>T	ENSP00000265371:p.Gly453Arg					NRP1_ENST00000374823.5_Missense_Mutation_p.G453R|NRP1_ENST00000395995.1_Missense_Mutation_p.G453R|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374822.4_Missense_Mutation_p.G453R|NRP1_ENST00000374816.3_Missense_Mutation_p.G453R|NRP1_ENST00000374867.2_Missense_Mutation_p.G453R|NRP1_ENST00000374821.5_Missense_Mutation_p.G453R	p.G453R			O14786	NRP1_HUMAN			10	1882	-			453			F5/8 type C 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1357G>A	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602345	0.46423	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98028	-4.67;-4.67;-4.67;-4.67;-4.67;-4.67;-4.67;-4.67;-4.67	5.64	5.64	0.86602	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.598230	0.19459	N	0.113742	D	0.94506	0.8231	N	0.13299	0.325	0.24501	N	0.994254	B;P;P;B;P;P;B;B;B	0.50156	0.018;0.931;0.932;0.447;0.629;0.68;0.447;0.06;0.008	B;P;P;B;B;B;B;B;B	0.45998	0.025;0.5;0.5;0.446;0.271;0.277;0.266;0.18;0.011	D	0.88586	0.3140	10	0.23302	T	0.38	-1.6716	15.3256	0.74160	0.1404:0.8596:0.0:0.0	.	453;453;453;453;453;453;453;272;453	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	R	453;272;453;453;453;453;453;453;126	ENSP00000265371:G453R;ENSP00000364009:G272R;ENSP00000364001:G453R;ENSP00000379317:G453R;ENSP00000363955:G453R;ENSP00000363954:G453R;ENSP00000363956:G453R;ENSP00000363949:G453R;ENSP00000408911:G126R	ENSP00000265371:G453R	G	-	1	0	NRP1	33542577	0.958000	0.32768	0.883000	0.34634	0.924000	0.55760	2.295000	0.43576	2.655000	0.90218	0.591000	0.81541	GGG		0.488	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			22	56	0	0	0	1	0	22	56				
SNX24	28966	broad.mit.edu	37	5	122337708	122337708	+	Intron	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:122337708A>T	ENST00000261369.4	+	6	627				SNX24_ENST00000395451.4_Intron|SNX24_ENST00000506996.1_Missense_Mutation_p.T151S|SNX24_ENST00000513881.1_Missense_Mutation_p.T151S	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24						protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		CGGTAATCAAACCTGTCATCT	0.488																																						ENST00000513881.1																			0				lung(5)	5						c.(451-453)Acc>Tcc		sorting nexin 24							159.0	138.0	145.0					5																	122337708		2203	4300	6503	SO:0001627	intron_variant	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122337708A>T	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.442+9A>T	5.37:g.122337708A>T						SNX24_ENST00000261369.4_Intron|SNX24_ENST00000395451.4_Intron|SNX24_ENST00000506996.1_Missense_Mutation_p.T151S	p.T151S			Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	6	567	+		Prostate(80;0.0387)	0					Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	37	c.451A>T	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398030	0.42512	.	.	ENSG00000064652	ENST00000513881;ENST00000506996	T;T	0.65916	-0.18;-0.18	5.86	4.69	0.59074	.	.	.	.	.	T	0.47303	0.1438	.	.	.	0.21445	N	0.999681	B	0.06786	0.001	B	0.08055	0.003	T	0.20306	-1.0279	7	.	.	.	.	12.5584	0.56267	0.9324:0.0:0.0676:0.0	.	151	Q9Y343-2	.	S	151	ENSP00000424149:T151S;ENSP00000422535:T151S	.	T	+	1	0	SNX24	122365607	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.563000	0.53784	2.367000	0.80283	0.528000	0.53228	ACC		0.488	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		15	33	0	0	0	1	0	15	33				
SLC2A5	6518	broad.mit.edu	37	1	9101785	9101785	+	Intron	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:9101785G>T	ENST00000377424.4	-	5	751				SLC2A5_ENST00000536305.1_Intron|SLC2A5_ENST00000535586.1_Intron|SLC2A5_ENST00000377414.3_Silent_p.L210L	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5						carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGAACACAAGGAGGGGGCCAA	0.572																																						ENST00000377414.3																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(628-630)ctC>ctA		solute carrier family 2 (facilitated glucose/fructose transporter), member 5							55.0	56.0	56.0					1																	9101785		692	1591	2283	SO:0001627	intron_variant	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9101785G>T	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.571+58C>A	1.37:g.9101785G>T						SLC2A5_ENST00000536305.1_Intron|SLC2A5_ENST00000377424.4_Intron|SLC2A5_ENST00000535586.1_Intron	p.L210L	NM_001135585.1	NP_001129057.1	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	697	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	43					Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	c.630C>A	CCDS99.1																																																																																				0.572	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		11	20	1	0	1.58986e-06	1	1.98733e-06	11	20				
KIAA1804	84451	broad.mit.edu	37	1	233515058	233515058	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:233515058A>G	ENST00000366624.3	+	9	2567	c.2306A>G	c.(2305-2307)aAg>aGg	p.K769R	MLK4_ENST00000366622.1_Missense_Mutation_p.K215R	NM_032435.2	NP_115811.2																					CGGGCTTCCAAGTCCCGCAGA	0.602																																						ENST00000366624.3																			0											c.(2305-2307)aAg>aGg									58.0	66.0	63.0					1																	233515058		2203	4300	6503	SO:0001583	missense	84451							g.chr1:233515058A>G																												ENST00000366624.3:c.2306A>G	1.37:g.233515058A>G	ENSP00000355583:p.Lys769Arg					MLK4_ENST00000366622.1_Missense_Mutation_p.K215R	p.K769R	NM_032435.2	NP_115811.2					9	2567	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.2306A>G	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	A	7.819	0.717303	0.15372	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.69685	-0.42;3.8	4.6	-0.463	0.12164	.	0.271412	0.31624	N	0.007326	T	0.31575	0.0801	N	0.02345	-0.59	0.09310	N	1	B;B	0.18013	0.025;0.002	B;B	0.23574	0.047;0.002	T	0.37244	-0.9714	10	0.02654	T	1	.	9.0953	0.36636	0.5316:0.0:0.4684:0.0	.	216;769	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	R	769;215	ENSP00000355583:K769R;ENSP00000355581:K215R	ENSP00000355581:K215R	K	+	2	0	RP5-862P8.2	231581681	0.132000	0.22450	0.002000	0.10522	0.826000	0.46750	1.673000	0.37534	-0.246000	0.09611	0.519000	0.50382	AAG		0.602	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			15	50	0	0	0	1	0	15	50				
SLC8A1	6546	broad.mit.edu	37	2	40366589	40366589	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:40366589C>A	ENST00000403092.1	-	10	2530	c.2497G>T	c.(2497-2499)Gat>Tat	p.D833Y	SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D833Y|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D797Y|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D828Y|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D797Y|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D797Y|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D828Y|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D797Y|SLC8A1_ENST00000406785.2_Missense_Mutation_p.D797Y|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D825Y|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	833					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCACAGAATCTTTCAGGCCA	0.483																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2389-2391)Gat>Tat		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						79.0	66.0	70.0					2																	40366589		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366589C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2497G>T	2.37:g.40366589C>A	ENSP00000384763:p.Asp833Tyr					SLC8A1_ENST00000406391.2_Missense_Mutation_p.D797Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D828Y|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D825Y|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D797Y|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D833Y|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D797Y|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D833Y|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D828Y|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D797Y|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA	p.D797Y			P32418	NAC1_HUMAN			7	2578	-			833					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.2389G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245392	0.80024	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.06	5.06	0.68205	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.86414	0.5927	H	0.97540	4.025	0.80722	D	1	D;D;D;D	0.89917	0.994;1.0;1.0;1.0	D;D;D;D	0.97110	0.986;1.0;1.0;1.0	D	0.91326	0.5086	10	0.87932	D	0	.	15.9345	0.79691	0.0:1.0:0.0:0.0	.	797;820;828;833	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	Y	797;833;828;833;828;797;797;833;825;820;797;797	ENSP00000383886:D797Y;ENSP00000440727:D828Y;ENSP00000384763:D833Y;ENSP00000385678:D828Y;ENSP00000385188:D797Y;ENSP00000385535:D797Y;ENSP00000332931:D833Y;ENSP00000384908:D825Y;ENSP00000385811:D797Y;ENSP00000443515:D797Y	ENSP00000332931:D833Y	D	-	1	0	SLC8A1	40220093	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.711000	0.84669	2.333000	0.79357	0.563000	0.77884	GAT		0.483	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		7	22	1	0	8.12818e-05	1	9.43982e-05	7	22				
CLIC5	53405	broad.mit.edu	37	6	45870951	45870951	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:45870951C>T	ENST00000185206.6	-	6	1259	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	CLIC5_ENST00000339561.6_Silent_p.E210E	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	369	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						GGCCTGTCATCTCAGCCGGGA	0.502																																						ENST00000185206.6																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(1105-1107)gaG>gaA		chloride intracellular channel 5							121.0	95.0	104.0					6																	45870951		2203	4300	6503	SO:0001819	synonymous_variant	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45870951C>T	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.1107G>A	6.37:g.45870951C>T						CLIC5_ENST00000339561.6_Silent_p.E210E	p.E369E	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN			6	1259	-			369			GST C-terminal.		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Silent	SNP	ENST00000185206.6	37	c.1107G>A	CCDS47438.1																																																																																				0.502	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			12	26	0	0	0	1	0	12	26				
RLTPR	146206	broad.mit.edu	37	16	67683164	67683164	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:67683164C>T	ENST00000334583.6	+	19	2024	c.1696C>T	c.(1696-1698)Ctg>Ttg	p.L566L	RLTPR_ENST00000545661.1_Silent_p.L530L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	566					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGGGAGACCCTGGACGACGT	0.642																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1696-1698)Ctg>Ttg		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							52.0	58.0	56.0					16																	67683164		2000	4151	6151	SO:0001819	synonymous_variant	146206							g.chr16:67683164C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1696C>T	16.37:g.67683164C>T						RLTPR_ENST00000545661.1_Silent_p.L530L	p.L566L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	19	2024	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	566					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.1696C>T	CCDS45513.1																																																																																				0.642	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		8	9	0	0	0	1	0	8	9				
GBF1	8729	broad.mit.edu	37	10	104123467	104123467	+	Splice_Site	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:104123467C>G	ENST00000369983.3	+	17	2275	c.2015C>G	c.(2014-2016)gCt>gGt	p.A672G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	672					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTACTCCTAGCTGACAAAAAG	0.423																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.e17-1		golgi brefeldin A resistant guanine nucleotide exchange factor 1							111.0	117.0	115.0					10																	104123467		2203	4300	6503	SO:0001630	splice_region_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104123467C>G	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2015-1C>G	10.37:g.104123467C>G							p.A672_splice	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	17	2275	+		Colorectal(252;0.0236)	672					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Splice_Site	SNP	ENST00000369983.3	37	c.2014_splice	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225961	0.39300	.	.	ENSG00000107862	ENST00000369983	T	0.10860	2.83	5.85	3.99	0.46301	.	0.313127	0.39759	N	0.001279	T	0.09992	0.0245	L	0.50333	1.59	0.41111	D	0.985745	B;B;B	0.13145	0.007;0.003;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.13926	-1.0491	9	.	.	.	.	8.0446	0.30542	0.0:0.7283:0.1306:0.1411	.	672;672;672	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	G	672	ENSP00000359000:A672G	.	A	+	2	0	GBF1	104113457	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.977000	0.49297	0.799000	0.34018	0.655000	0.94253	GCT		0.423	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		Missense_Mutation	18	53	0	0	0	1	0	18	53				
PKHD1L1	93035	broad.mit.edu	37	8	110431352	110431352	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:110431352T>A	ENST00000378402.5	+	22	2491	c.2387T>A	c.(2386-2388)cTg>cAg	p.L796Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	796					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATAGACCTTCTGGATCTCGTA	0.363										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(2386-2388)cTg>cAg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							115.0	106.0	109.0					8																	110431352		1872	4097	5969	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110431352T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.2387T>A	8.37:g.110431352T>A	ENSP00000367655:p.Leu796Gln	HNSCC(38;0.096)					p.L796Q	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		22	2491	+			796					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.2387T>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.814010	0.32053	.	.	ENSG00000205038	ENST00000378402	D	0.86562	-2.14	5.81	4.63	0.57726	.	0.382616	0.23973	N	0.042747	D	0.82802	0.5116	L	0.56769	1.78	0.26103	N	0.980792	B	0.31837	0.342	B	0.25884	0.064	T	0.75883	-0.3160	10	0.66056	D	0.02	.	9.9173	0.41442	0.0:0.0:0.1715:0.8285	.	796	Q86WI1	PKHL1_HUMAN	Q	796	ENSP00000367655:L796Q	ENSP00000367655:L796Q	L	+	2	0	PKHD1L1	110500528	0.997000	0.39634	1.000000	0.80357	0.427000	0.31564	3.002000	0.49496	0.990000	0.38787	0.533000	0.62120	CTG		0.363	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		6	19	0	0	0	1	0	6	19				
GPR37	2861	broad.mit.edu	37	7	124404222	124404222	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:124404222A>G	ENST00000303921.2	-	1	1459	c.809T>C	c.(808-810)gTg>gCg	p.V270A		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	270					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCGAAGATCACCACGGACAG	0.587																																						ENST00000303921.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(808-810)gTg>gCg		G protein-coupled receptor 37 (endothelin receptor type B-like)							93.0	92.0	92.0					7																	124404222		2203	4300	6503	SO:0001583	missense	2861					endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:124404222A>G		CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.809T>C	7.37:g.124404222A>G	ENSP00000306449:p.Val270Ala						p.V270A	NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN			1	1459	-			270					A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	c.809T>C	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.690885	0.88735	.	.	ENSG00000170775	ENST00000303921	T	0.39406	1.08	5.53	5.53	0.82687	.	0.282455	0.36815	N	0.002392	T	0.44767	0.1309	L	0.61218	1.895	0.44104	D	0.996876	P	0.45634	0.863	B	0.42916	0.402	T	0.40813	-0.9543	10	0.37606	T	0.19	-36.7608	14.9949	0.71425	1.0:0.0:0.0:0.0	.	270	O15354	GPR37_HUMAN	A	270	ENSP00000306449:V270A	ENSP00000306449:V270A	V	-	2	0	GPR37	124191458	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.131000	0.94446	2.319000	0.78375	0.523000	0.50628	GTG		0.587	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302		15	36	0	0	0	1	0	15	36				
BHLHE41	79365	broad.mit.edu	37	12	26277471	26277471	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:26277471A>G	ENST00000242728.4	-	2	454	c.107T>C	c.(106-108)aTg>aCg	p.M36T	RP11-283G6.3_ENST00000535914.1_RNA|RP11-283G6.3_ENST00000545819.1_RNA	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	36					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|MRF binding (GO:0043426)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GTCTCGTTTCATGCTCCTTTT	0.478																																						ENST00000242728.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						c.(106-108)aTg>aCg		basic helix-loop-helix family, member e41							211.0	193.0	199.0					12																	26277471		2203	4300	6503	SO:0001583	missense	79365				cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:26277471A>G	AB044088	CCDS8706.1	12p12.1	2011-12-05	2009-01-12	2009-01-12	ENSG00000123095	ENSG00000123095		"""Basic helix-loop-helix proteins"""	16617	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 2"", ""Enhancer-of-split and hairy-related protein 1"""	606200	"""basic helix-loop-helix domain containing, class B, 3"""	BHLHB3		11162494, 18557763	Standard	NM_030762		Approved	DEC2, SHARP-1, SHARP1, bHLHe41	uc001rhb.3	Q9C0J9	OTTHUMG00000169174	ENST00000242728.4:c.107T>C	12.37:g.26277471A>G	ENSP00000242728:p.Met36Thr						p.M36T	NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN			2	454	-			36					A2I2N8	Missense_Mutation	SNP	ENST00000242728.4	37	c.107T>C	CCDS8706.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378565	0.24944	.	.	ENSG00000123095	ENST00000242728;ENST00000540731	T	0.55234	0.53	4.2	4.2	0.49525	.	0.731043	0.11899	U	0.518868	T	0.35158	0.0922	N	0.12182	0.205	0.80722	D	1	B	0.28880	0.226	B	0.25884	0.064	T	0.28870	-1.0030	10	0.72032	D	0.01	-0.8539	11.0604	0.47944	1.0:0.0:0.0:0.0	.	36	Q9C0J9	BHE41_HUMAN	T	36	ENSP00000242728:M36T	ENSP00000242728:M36T	M	-	2	0	BHLHE41	26168738	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.168000	0.89670	1.895000	0.54865	0.459000	0.35465	ATG		0.478	BHLHE41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402714.1	NM_030762		16	31	0	0	0	1	0	16	31				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	12	1	0	6.4e-05	1	7.46929e-05	3	12				
LGALS3BP	3959	broad.mit.edu	37	17	76968228	76968228	+	Silent	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:76968228G>C	ENST00000262776.3	-	6	1496	c.1188C>G	c.(1186-1188)ggC>ggG	p.G396G	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	396					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TGAGGTTCAGGCCTTTGTACC	0.577											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	ENST00000262776.3																			0				NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1186-1188)ggC>ggG		lectin, galactoside-binding, soluble, 3 binding protein							53.0	57.0	56.0					17																	76968228		2203	4300	6503	SO:0001819	synonymous_variant	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76968228G>C	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1188C>G	17.37:g.76968228G>C			OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_ENST00000591778.1_3'UTR	p.G396G	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1496	-			396					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	37	c.1188C>G	CCDS11759.1																																																																																				0.577	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		13	23	0	0	0	1	0	13	23				
TTN	7273	broad.mit.edu	37	2	179393257	179393257	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:179393257G>T	ENST00000591111.1	-	310	102522	c.102298C>A	c.(102298-102300)Cca>Aca	p.P34100T	TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P26868T|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26801T|TTN_ENST00000460472.2_Missense_Mutation_p.P26676T|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P33173T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P35741T|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA			Q8WZ42	TITIN_HUMAN	titin	34100	Ig-like 151.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACTTACTGGCAGGTTGTTT	0.323																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(107221-107223)Cca>Aca		titin							24.0	23.0	24.0					2																	179393257		1825	4081	5906	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179393257G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102298C>A	2.37:g.179393257G>T	ENSP00000465570:p.Pro34100Thr					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P34100T|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P26676T|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P26868T|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P26801T|TTN_ENST00000342992.6_Missense_Mutation_p.P33173T|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000587568.1_RNA	p.P35741T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		360	107445	-			34100					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.107221C>A		.	.	.	.	.	.	.	.	.	.	G	14.37	2.516052	0.44763	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.56	5.56	0.83823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63792	0.2541	L	0.42632	1.34	0.33136	D	0.543788	B;B;B;B;B	0.30824	0.134;0.134;0.134;0.134;0.296	B;B;B;B;B	0.29942	0.056;0.056;0.056;0.056;0.109	T	0.72257	-0.4346	9	0.87932	D	0	.	19.5197	0.95180	0.0:0.0:1.0:0.0	.	26676;26801;26868;34100;33173	D3DPF9;E7EQE6;E7ET18;Q8WZ42;A6NKB1	.;.;.;TITIN_HUMAN;.	T	33173;26676;26868;26801;26673	ENSP00000343764:P33173T;ENSP00000434586:P26676T;ENSP00000340554:P26868T;ENSP00000352154:P26801T	ENSP00000340554:P26868T	P	-	1	0	TTN	179101503	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	3.838000	0.55828	2.608000	0.88229	0.561000	0.74099	CCA		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	5	1	0	1	1	1	5	5				
COL11A1	1301	broad.mit.edu	37	1	103480122	103480122	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:103480122C>G	ENST00000370096.3	-	13	1829	c.1517G>C	c.(1516-1518)gGa>gCa	p.G506A	COL11A1_ENST00000353414.4_Missense_Mutation_p.G467A|COL11A1_ENST00000358392.2_Missense_Mutation_p.G518A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G390A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	506	Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATGGTTGGTCCTTTGGAACC	0.418																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1552-1554)gGa>gCa		collagen, type XI, alpha 1							100.0	85.0	90.0					1																	103480122		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103480122C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1517G>C	1.37:g.103480122C>G	ENSP00000359114:p.Gly506Ala					COL11A1_ENST00000512756.1_Missense_Mutation_p.G390A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G467A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G506A	p.G518A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	13	1870	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	506			Telopeptide.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1553G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774986	0.70107	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.88277	-2.35;-2.36;-2.34;-2.2;-2.2	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.92773	0.7702	M	0.85710	2.77	0.80722	D	1	P;P;D;P	0.55385	0.884;0.93;0.971;0.884	B;P;P;B	0.53224	0.358;0.637;0.721;0.433	D	0.93522	0.6862	10	0.87932	D	0	.	19.5815	0.95469	0.0:1.0:0.0:0.0	.	390;467;518;506	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	A	506;518;467;390;518	ENSP00000359114:G506A;ENSP00000351163:G518A;ENSP00000302551:G467A;ENSP00000426533:G390A;ENSP00000408640:G518A	ENSP00000302551:G467A	G	-	2	0	COL11A1	103252710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.321000	0.79088	2.620000	0.88729	0.655000	0.94253	GGA		0.418	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		6	13	0	0	0	1	0	6	13				
CSMD3	114788	broad.mit.edu	37	8	113301620	113301620	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:113301620C>A	ENST00000297405.5	-	57	9366	c.9122G>T	c.(9121-9123)tGg>tTg	p.W3041L	CSMD3_ENST00000455883.2_Missense_Mutation_p.W2872L|CSMD3_ENST00000343508.3_Missense_Mutation_p.W3001L|CSMD3_ENST00000352409.3_Missense_Mutation_p.W2971L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3041	Sushi 21. {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						TGATCCACTCCAATGGCCATT	0.413										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.(9121-9123)tGg>tTg		CUB and Sushi multiple domains 3							137.0	132.0	134.0					8																	113301620		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113301620C>A	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.9122G>T	8.37:g.113301620C>A	ENSP00000297405:p.Trp3041Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.W2872L|CSMD3_ENST00000343508.3_Missense_Mutation_p.W3001L|CSMD3_ENST00000352409.3_Missense_Mutation_p.W2971L	p.W3041L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			57	9366	-			3041			Sushi 21.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9122G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184396	0.94885	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	D	0.98356	0.9454	H	0.99770	4.765	0.80722	D	1	D;D;P	0.89917	0.998;1.0;0.845	D;D;P	0.91635	0.997;0.999;0.62	D	0.98667	1.0686	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	2872;3041;3001	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3001;3041;2311;2872;2971	ENSP00000345799:W3001L;ENSP00000297405:W3041L;ENSP00000341558:W2311L;ENSP00000412263:W2872L;ENSP00000343124:W2971L	ENSP00000297405:W3041L	W	-	2	0	CSMD3	113370796	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	TGG		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	30	1	0	3.07112e-06	1	3.78904e-06	12	30				
GPR116	221395	broad.mit.edu	37	6	46847685	46847685	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:46847685C>T	ENST00000283296.7	-	9	1194	c.906G>A	c.(904-906)gtG>gtA	p.V302V	GPR116_ENST00000456426.2_Intron|GPR116_ENST00000265417.7_Silent_p.V302V|GPR116_ENST00000362015.4_Silent_p.V302V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	302	Ig-like 1.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGCGCCAAGACACATTGGAGG	0.443																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(904-906)gtG>gtA		G protein-coupled receptor 116							198.0	165.0	176.0					6																	46847685		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46847685C>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.906G>A	6.37:g.46847685C>T						GPR116_ENST00000456426.2_Intron|GPR116_ENST00000265417.7_Silent_p.V302V|GPR116_ENST00000362015.4_Silent_p.V302V	p.V302V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		9	1194	-			302			Ig-like 1.		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.906G>A	CCDS4919.1																																																																																				0.443	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		20	17	0	0	0	1	0	20	17				
ABCA12	26154	broad.mit.edu	37	2	215919377	215919377	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:215919377C>T	ENST00000272895.7	-	4	548	c.329G>A	c.(328-330)aGa>aAa	p.R110K		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	110					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGATGACTTTCTCAGAATCTC	0.403																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(328-330)aGa>aAa		ATP-binding cassette, sub-family A (ABC1), member 12							167.0	163.0	164.0					2																	215919377		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215919377C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.329G>A	2.37:g.215919377C>T	ENSP00000272895:p.Arg110Lys						p.R110K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	548	-		Renal(323;0.127)	110					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.329G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932700	0.34096	.	.	ENSG00000144452	ENST00000272895	D	0.87809	-2.3	5.73	2.71	0.32032	.	0.460629	0.20060	N	0.100112	T	0.71187	0.3310	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.54741	-0.8248	10	0.16896	T	0.51	.	4.9854	0.14187	0.0:0.598:0.1857:0.2163	.	110	Q86UK0	ABCAC_HUMAN	K	110	ENSP00000272895:R110K	ENSP00000272895:R110K	R	-	2	0	ABCA12	215627622	1.000000	0.71417	0.992000	0.48379	0.909000	0.53808	0.362000	0.20284	0.226000	0.20979	0.557000	0.71058	AGA		0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		14	34	0	0	0	1	0	14	34				
NPC1L1	29881	broad.mit.edu	37	7	44553197	44553197	+	Missense_Mutation	SNP	G	G	C	rs143889287		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:44553197G>C	ENST00000289547.4	-	20	3984	c.3929C>G	c.(3928-3930)gCg>gGg	p.A1310G	NPC1L1_ENST00000546276.1_Missense_Mutation_p.A1237G|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A1283G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1310					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGCTGCCACCGCCTCCTCAGC	0.582																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(3928-3930)gCg>gGg		NPC1-like 1	Ezetimibe(DB00973)						80.0	85.0	83.0					7																	44553197		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44553197G>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3929C>G	7.37:g.44553197G>C	ENSP00000289547:p.Ala1310Gly					NPC1L1_ENST00000381160.3_Missense_Mutation_p.A1283G|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A1237G	p.A1310G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			20	3984	-			1310					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.3929C>G	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	G	8.474	0.858195	0.17178	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	T;T;T	0.63580	-0.05;-0.05;-0.05	3.49	-6.29	0.02013	.	1.450390	0.04406	N	0.365194	T	0.33030	0.0849	N	0.08118	0	0.09310	N	1	P;B;P	0.46277	0.798;0.253;0.875	B;B;B	0.39904	0.137;0.048;0.313	T	0.33548	-0.9864	10	0.19590	T	0.45	-1.074	4.5551	0.12133	0.3764:0.0:0.2004:0.4232	.	1237;1283;1310	B7ZLE6;Q17RV5;D3DVK9	.;.;.	G	1310;1283;1237	ENSP00000289547:A1310G;ENSP00000370552:A1283G;ENSP00000438033:A1237G	ENSP00000289547:A1310G	A	-	2	0	NPC1L1	44519722	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.032000	0.12266	-1.725000	0.01371	-0.475000	0.04921	GCG		0.582	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		16	47	0	0	0	1	0	16	47				
ZNF117	51351	broad.mit.edu	37	7	64438807	64438807	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:64438807A>T	ENST00000282869.6	-	4	2426	c.1142T>A	c.(1141-1143)aTa>aAa	p.I381K		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	381					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AGTATGGATTATCTTATGTGT	0.388																																						ENST00000282869.5																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22						c.(1141-1143)aTa>aAa		zinc finger protein 117							116.0	123.0	121.0					7																	64438807		2103	4246	6349	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64438807A>T	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1142T>A	7.37:g.64438807A>T	ENSP00000282869:p.Ile381Lys						p.I381K	NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN			4	2426	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	381					Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.1142T>A	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	0.460	-0.889766	0.02511	.	.	ENSG00000152926	ENST00000282869	T	0.12774	2.65	1.11	-2.23	0.06930	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03390	0.0098	N	0.00521	-1.4	0.23204	N	0.998126	B	0.02656	0.0	B	0.04013	0.001	T	0.44112	-0.9349	9	0.30854	T	0.27	.	8.4408	0.32814	0.2406:0.7594:0.0:0.0	.	381	Q03924	ZN117_HUMAN	K	381	ENSP00000282869:I381K	ENSP00000282869:I381K	I	-	2	0	ZNF117	64076242	0.000000	0.05858	0.005000	0.12908	0.015000	0.08874	-0.737000	0.04877	-1.592000	0.01619	-0.825000	0.03093	ATA		0.388	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		21	38	0	0	0	1	0	21	38				
PCLO	27445	broad.mit.edu	37	7	82584024	82584024	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:82584024G>T	ENST00000333891.9	-	5	6582	c.6245C>A	c.(6244-6246)cCa>cAa	p.P2082Q	PCLO_ENST00000423517.2_Missense_Mutation_p.P2082Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCCTGGGTTGGGCTAGATCC	0.463																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(6244-6246)cCa>cAa		piccolo presynaptic cytomatrix protein							90.0	87.0	88.0					7																	82584024		1928	4126	6054	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584024G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6245C>A	7.37:g.82584024G>T	ENSP00000334319:p.Pro2082Gln					PCLO_ENST00000333891.8_Missense_Mutation_p.P2082Q	p.P2082Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	6582	-			2013						Missense_Mutation	SNP	ENST00000333891.9	37	c.6245C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	2.905	-0.226747	0.06022	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.37584	1.19;1.23	5.77	3.96	0.45880	.	.	.	.	.	T	0.45458	0.1343	L	0.54323	1.7	0.80722	D	1	D;D	0.53885	0.963;0.963	P;P	0.52343	0.696;0.696	T	0.44636	-0.9315	9	0.87932	D	0	.	12.878	0.58001	0.1338:0.0:0.8662:0.0	.	2082;2082	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	2013;2082;2082	ENSP00000334319:P2082Q;ENSP00000388393:P2082Q	ENSP00000334319:P2082Q	P	-	2	0	PCLO	82421960	1.000000	0.71417	0.016000	0.15963	0.318000	0.28184	5.726000	0.68515	0.774000	0.33427	0.655000	0.94253	CCA		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	32	1	0	0.000274275	1	0.000309455	9	32				
FAM110B	90362	broad.mit.edu	37	8	59059284	59059284	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:59059284C>A	ENST00000361488.3	+	5	1375	c.495C>A	c.(493-495)gtC>gtA	p.V165V	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	165						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCCTGAAGGTCTACCCCACGC	0.697																																						ENST00000361488.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(493-495)gtC>gtA		family with sequence similarity 110, member B							21.0	22.0	22.0					8																	59059284		2202	4299	6501	SO:0001819	synonymous_variant	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059284C>A	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.495C>A	8.37:g.59059284C>A						FAM110B_ENST00000520369.1_Intron	p.V165V	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN			5	1375	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	165					Q5BM08|Q9Y4K2	Silent	SNP	ENST00000361488.3	37	c.495C>A	CCDS6170.1																																																																																				0.697	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		12	22	1	0	0.010729	1	0.0113503	12	22				
MYBPC1	4604	broad.mit.edu	37	12	102038465	102038465	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:102038465G>T	ENST00000550270.1	+	10	781	c.781G>T	c.(781-783)Gca>Tca	p.A261S	MYBPC1_ENST00000452455.2_Missense_Mutation_p.A261S|MYBPC1_ENST00000549145.1_Missense_Mutation_p.A274S|MYBPC1_ENST00000547509.1_Missense_Mutation_p.A247S|MYBPC1_ENST00000541119.1_Missense_Mutation_p.A249S|MYBPC1_ENST00000545503.2_Missense_Mutation_p.A261S|MYBPC1_ENST00000536007.1_Missense_Mutation_p.A242S|MYBPC1_ENST00000551300.1_Missense_Mutation_p.A162S|MYBPC1_ENST00000550501.1_Intron|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000441232.1_Missense_Mutation_p.A261S|MYBPC1_ENST00000360610.2_Missense_Mutation_p.A261S|MYBPC1_ENST00000361685.2_Missense_Mutation_p.A286S|MYBPC1_ENST00000361466.2_Missense_Mutation_p.A286S|MYBPC1_ENST00000553190.1_Missense_Mutation_p.A261S|MYBPC1_ENST00000547405.1_Missense_Mutation_p.A235S|MYBPC1_ENST00000392934.3_Missense_Mutation_p.A248S|RP11-755O11.2_ENST00000547027.1_RNA			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	261	Ig-like C2-type 2.			A -> V (in Ref. 1; CAA46987). {ECO:0000305}.	cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCTTGATCCTGCATATCAGGT	0.353																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(820-822)Gca>Tca		myosin binding protein C, slow type							76.0	73.0	74.0					12																	102038465		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102038465G>T		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.781G>T	12.37:g.102038465G>T	ENSP00000449702:p.Ala261Ser					MYBPC1_ENST00000550270.1_Missense_Mutation_p.A261S|MYBPC1_ENST00000452455.2_Missense_Mutation_p.A261S|MYBPC1_ENST00000547405.1_Missense_Mutation_p.A235S|MYBPC1_ENST00000392934.3_Missense_Mutation_p.A248S|MYBPC1_ENST00000547509.1_Missense_Mutation_p.A247S|MYBPC1_ENST00000361685.2_Missense_Mutation_p.A286S|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.A261S|MYBPC1_ENST00000361466.2_Missense_Mutation_p.A286S|MYBPC1_ENST00000536007.1_Missense_Mutation_p.A242S|MYBPC1_ENST00000553190.1_Missense_Mutation_p.A261S|MYBPC1_ENST00000541119.1_Missense_Mutation_p.A249S|MYBPC1_ENST00000545503.2_Missense_Mutation_p.A261S|MYBPC1_ENST00000551300.1_Missense_Mutation_p.A162S|MYBPC1_ENST00000441232.1_Missense_Mutation_p.A261S	p.A274S			Q00872	MYPC1_HUMAN			11	920	+			261			Ig-like C2-type 2.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.820G>T	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469042	0.84533	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000540770;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60299	0.24;0.21;0.2;0.21;0.23;0.2;0.23;0.22;0.23;0.2;0.29;0.21;0.21;0.26;0.21	5.7	5.7	0.88788	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000093	T	0.70824	0.3268	L	0.41632	1.29	0.80722	D	1	P;D;D;D;D;P;D;D;D;D;D	0.89917	0.747;0.999;1.0;0.999;0.999;0.747;0.998;0.999;0.969;0.998;1.0	P;D;D;D;D;P;D;D;P;D;D	0.91635	0.678;0.998;0.997;0.998;0.997;0.678;0.997;0.999;0.891;0.997;0.999	T	0.71787	-0.4487	10	0.66056	D	0.02	.	19.4511	0.94867	0.0:0.0:1.0:0.0	.	242;249;261;261;248;235;261;261;286;286;274	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2;F8VZY0	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.;.	S	235;261;261;261;248;247;286;274;261;286;261;242;249;286;162;261	ENSP00000448175:A235S;ENSP00000400908:A261S;ENSP00000388989:A261S;ENSP00000353822:A261S;ENSP00000376665:A248S;ENSP00000447362:A247S;ENSP00000354845:A286S;ENSP00000447660:A274S;ENSP00000447900:A261S;ENSP00000440034:A261S;ENSP00000446128:A242S;ENSP00000442847:A249S;ENSP00000354849:A286S;ENSP00000447116:A162S;ENSP00000449702:A261S	ENSP00000353822:A261S	A	+	1	0	MYBPC1	100562596	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.366000	0.73095	2.694000	0.91930	0.655000	0.94253	GCA		0.353	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			10	16	1	0	0.000442599	1	0.00049467	10	16				
ATP6V0A4	50617	broad.mit.edu	37	7	138406769	138406769	+	Splice_Site	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:138406769A>T	ENST00000310018.2	-	19	2294	c.2012T>A	c.(2011-2013)cTg>cAg	p.L671Q	ATP6V0A4_ENST00000353492.4_Splice_Site_p.L671Q|ATP6V0A4_ENST00000393054.1_Splice_Site_p.L671Q	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	671					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGATGCCTGCAGCTGACAACA	0.463																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.e19-1		ATPase, H+ transporting, lysosomal V0 subunit a4							78.0	69.0	73.0					7																	138406769		2203	4300	6503	SO:0001630	splice_region_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138406769A>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.2011-1T>A	7.37:g.138406769A>T						ATP6V0A4_ENST00000393054.1_Splice_Site_p.L671_splice|ATP6V0A4_ENST00000353492.4_Splice_Site_p.L671_splice	p.L671_splice	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			19	2294	-			671					A4D1R4|A8KA80|Q32M47	Splice_Site	SNP	ENST00000310018.2	37	c.2010_splice	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	A	7.370	0.626545	0.14257	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.84660	-1.88;-1.88;-1.88	4.66	2.26	0.28386	.	8.386390	0.00166	N	0.000006	T	0.63850	0.2546	N	0.00985	-1.075	0.09310	N	1	B	0.29805	0.257	B	0.30495	0.116	T	0.63116	-0.6709	10	0.12430	T	0.62	0.883	6.3266	0.21246	0.801:0.0:0.199:0.0	.	671	Q9HBG4	VPP4_HUMAN	Q	671	ENSP00000308122:L671Q;ENSP00000376774:L671Q;ENSP00000253856:L671Q	ENSP00000308122:L671Q	L	-	2	0	ATP6V0A4	138057309	0.120000	0.22244	0.240000	0.24138	0.015000	0.08874	1.143000	0.31553	0.384000	0.24942	-0.256000	0.11100	CTG		0.463	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	Missense_Mutation	7	16	0	0	0	1	0	7	16				
DCP1B	196513	broad.mit.edu	37	12	2113530	2113530	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:2113530C>A	ENST00000280665.6	-	1	147	c.68G>T	c.(67-69)cGc>cTc	p.R23L	DCP1B_ENST00000397173.4_5'UTR|RP5-1096D14.6_ENST00000354425.4_RNA|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	23					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GGGGTCGTGGCGCTGCAGGGC	0.692																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(67-69)cGc>cTc		decapping mRNA 1B							43.0	35.0	38.0					12																	2113530		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2113530C>A	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.68G>T	12.37:g.2113530C>A	ENSP00000280665:p.Arg23Leu					DCP1B_ENST00000397173.4_5'UTR|DCP1B_ENST00000541700.1_5'UTR	p.R23L	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		1	147	-			23					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.68G>T	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516655	0.85495	.	.	ENSG00000151065	ENST00000280665;ENST00000541700;ENST00000535873	T	0.32515	1.45	5.31	3.5	0.40072	.	0.226336	0.46442	D	0.000283	T	0.40694	0.1127	M	0.78049	2.395	0.80722	D	1	B;P	0.35684	0.251;0.515	B;B	0.43445	0.147;0.42	T	0.30208	-0.9986	10	0.72032	D	0.01	-2.1495	8.8563	0.35229	0.0:0.7436:0.0:0.2564	.	23;23	B4DVJ6;Q8IZD4	.;DCP1B_HUMAN	L	23	ENSP00000280665:R23L	ENSP00000280665:R23L	R	-	2	0	DCP1B	1983791	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.282000	0.51693	0.620000	0.30215	0.655000	0.94253	CGC		0.692	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		88	33	1	0	3.3814e-41	1	5.5964e-41	88	33				
TTN	7273	broad.mit.edu	37	2	179576741	179576741	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:179576741A>C	ENST00000591111.1	-	94	27089	c.26865T>G	c.(26863-26865)agT>agG	p.S8955R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8028R|TTN_ENST00000589042.1_Missense_Mutation_p.S9272R|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13100	Ig-like 72.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATATTCTCCACTATCATTAA	0.353																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(27814-27816)agT>agG		titin							87.0	89.0	88.0					2																	179576741		1837	4090	5927	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179576741A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26865T>G	2.37:g.179576741A>C	ENSP00000465570:p.Ser8955Arg					TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S8955R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8028R	p.S9272R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		96	28040	-			8955			Ig-like 76.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.27816T>G		.	.	.	.	.	.	.	.	.	.	A	11.49	1.655438	0.29425	.	.	ENSG00000155657	ENST00000342992	T	0.69040	-0.37	5.47	-1.33	0.09172	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63977	0.2557	M	0.78285	2.405	0.80722	D	1	B	0.06786	0.001	B	0.15484	0.013	T	0.58951	-0.7545	9	0.87932	D	0	.	10.3526	0.43945	0.6768:0.0:0.3232:0.0	.	8955	Q8WZ42	TITIN_HUMAN	R	8028	ENSP00000343764:S8028R	ENSP00000343764:S8028R	S	-	3	2	TTN	179284986	0.884000	0.30299	0.991000	0.47740	0.959000	0.62525	0.436000	0.21526	-0.388000	0.07797	0.533000	0.62120	AGT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	25	0	0	0	1	0	5	25				
PCDHA3	56145	broad.mit.edu	37	5	140182275	140182275	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140182275G>T	ENST00000522353.2	+	1	1493	c.1493G>T	c.(1492-1494)cGg>cTg	p.R498L	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R498L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	498	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAACGGCGGGTGGGGGAG	0.682																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1492-1494)cGg>cTg									67.0	72.0	70.0					5																	140182275		2203	4299	6502	SO:0001583	missense	56145							g.chr5:140182275G>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1493G>T	5.37:g.140182275G>T	ENSP00000429808:p.Arg498Leu					PCDHA3_ENST00000532566.2_Missense_Mutation_p.R498L|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	p.R498L	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1493	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1493G>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	9.415	1.081589	0.20309	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.51817	0.69;0.69	4.75	1.76	0.24704	Cadherin (4);Cadherin-like (1);	0.201363	0.23891	U	0.043544	T	0.29716	0.0742	N	0.15975	0.35	0.09310	N	1	B;B	0.20671	0.047;0.032	B;B	0.36504	0.226;0.025	T	0.18650	-1.0330	10	0.54805	T	0.06	.	2.1791	0.03869	0.2149:0.233:0.4263:0.1258	.	498;498	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	L	498	ENSP00000429808:R498L;ENSP00000434086:R498L	ENSP00000429808:R498L	R	+	2	0	PCDHA3	140162459	0.000000	0.05858	0.987000	0.45799	0.703000	0.40648	0.157000	0.16402	1.146000	0.42352	0.461000	0.40582	CGG		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		81	113	1	0	7.31121e-38	1	1.20584e-37	81	113				
TNN	63923	broad.mit.edu	37	1	175092695	175092695	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:175092695G>C	ENST00000239462.4	+	12	2923	c.2810G>C	c.(2809-2811)aGc>aCc	p.S937T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	937	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGCACAGCAGCACTGTCCTG	0.627																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2809-2811)aGc>aCc		tenascin N							98.0	82.0	87.0					1																	175092695		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175092695G>C	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2810G>C	1.37:g.175092695G>C	ENSP00000239462:p.Ser937Thr						p.S937T	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	12	2923	+		Breast(1374;0.000962)	937			Fibronectin type-III 8.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2810G>C	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464078	0.26335	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.58060	0.36	4.98	3.99	0.46301	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.407517	0.29799	N	0.011175	T	0.41143	0.1146	L	0.39147	1.195	0.35919	D	0.831639	B	0.20368	0.044	B	0.24269	0.052	T	0.44128	-0.9348	10	0.27082	T	0.32	.	9.5165	0.39109	0.0:0.1949:0.667:0.1381	.	937	Q9UQP3	TENN_HUMAN	T	937;760	ENSP00000239462:S937T	ENSP00000239462:S937T	S	+	2	0	TNN	173359318	0.004000	0.15560	0.995000	0.50966	0.769000	0.43574	0.217000	0.17603	2.446000	0.82766	0.462000	0.41574	AGC		0.627	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		14	40	0	0	0	1	0	14	40				
CLVS1	157807	broad.mit.edu	37	8	62212468	62212468	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:62212468G>T	ENST00000519846.1	+	3	554	c.82G>T	c.(82-84)Gct>Tct	p.A28S	CLVS1_ENST00000325897.4_Missense_Mutation_p.A28S|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	28					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCATTTACAGGCTGGACTCAG	0.448																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(82-84)Gct>Tct		clavesin 1							66.0	64.0	65.0					8																	62212468		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212468G>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.82G>T	8.37:g.62212468G>T	ENSP00000428402:p.Ala28Ser					CLVS1_ENST00000325897.4_Missense_Mutation_p.A28S|CLVS1_ENST00000518592.1_Intron	p.A28S			Q8IUQ0	CLVS1_HUMAN			3	554	+			28					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.82G>T	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206871	0.79127	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.79454	-1.27;-1.27	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.171920	0.50627	D	0.000110	T	0.63498	0.2516	N	0.11201	0.11	0.58432	D	0.999992	P;B;P	0.42692	0.787;0.075;0.528	B;B;B	0.39840	0.311;0.076;0.234	T	0.62723	-0.6794	10	0.16896	T	0.51	-10.8678	20.0313	0.97540	0.0:0.0:1.0:0.0	.	28;28;28	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	S	28	ENSP00000428402:A28S;ENSP00000325506:A28S	ENSP00000325506:A28S	A	+	1	0	CLVS1	62375022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.617000	0.67716	2.746000	0.94184	0.655000	0.94253	GCT		0.448	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		14	12	1	0	9.31168e-06	1	1.11693e-05	14	12				
GPA33	10223	broad.mit.edu	37	1	167032959	167032959	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:167032959G>T	ENST00000367868.3	-	4	774	c.431C>A	c.(430-432)cCa>cAa	p.P144Q	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	144	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GCCGCATTCTGGTTTGGAGGG	0.577																																						ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(430-432)cCa>cAa		glycoprotein A33 (transmembrane)							139.0	125.0	130.0					1																	167032959		2203	4300	6503	SO:0001583	missense	10223					integral to plasma membrane	receptor activity	g.chr1:167032959G>T	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.431C>A	1.37:g.167032959G>T	ENSP00000356842:p.Pro144Gln					GPA33_ENST00000527955.1_5'UTR	p.P144Q	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			4	774	-			144			Ig-like C2-type.		Q5VZP6	Missense_Mutation	SNP	ENST00000367868.3	37	c.431C>A	CCDS1258.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453419	0.43531	.	.	ENSG00000143167	ENST00000367868	T	0.05199	3.48	5.64	5.64	0.86602	Immunoglobulin-like (1);	0.050310	0.85682	D	0.000000	T	0.26629	0.0651	M	0.92077	3.27	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	T	0.12760	-1.0535	10	0.87932	D	0	.	15.281	0.73784	0.0:0.0:1.0:0.0	.	144	Q99795	GPA33_HUMAN	Q	144	ENSP00000356842:P144Q	ENSP00000356842:P144Q	P	-	2	0	GPA33	165299583	1.000000	0.71417	0.129000	0.21949	0.025000	0.11179	5.520000	0.67080	2.670000	0.90874	0.638000	0.83543	CCA		0.577	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		18	44	1	0	5.26018e-13	1	7.88197e-13	18	44				
OR2L3	391192	broad.mit.edu	37	1	248224437	248224437	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:248224437T>A	ENST00000359959.3	+	1	454	c.454T>A	c.(454-456)Tcg>Acg	p.S152T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GATCATAGGCTCGATCAATGC	0.433																																						ENST00000359959.3																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(454-456)Tcg>Acg		olfactory receptor, family 2, subfamily L, member 3							177.0	202.0	193.0					1																	248224437		2203	4300	6503	SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224437T>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.454T>A	1.37:g.248224437T>A	ENSP00000353044:p.Ser152Thr					OR2L13_ENST00000366478.2_Intron	p.S152T	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	454	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		152					B9EH44	Missense_Mutation	SNP	ENST00000359959.3	37	c.454T>A	CCDS31104.1	.	.	.	.	.	.	.	.	.	.	.	8.508	0.865819	0.17250	.	.	ENSG00000198128	ENST00000359959	T	0.00076	8.76	1.91	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	1.218230	0.06416	U	0.721499	T	0.00178	0.0005	L	0.45422	1.42	0.09310	N	1	B	0.18013	0.025	B	0.24974	0.057	T	0.35001	-0.9806	10	0.56958	D	0.05	.	9.2456	0.37523	0.0:0.0:0.0:1.0	.	152	Q8NG85	OR2L3_HUMAN	T	152	ENSP00000353044:S152T	ENSP00000353044:S152T	S	+	1	0	OR2L3	246291060	0.000000	0.05858	0.242000	0.24170	0.014000	0.08584	-0.170000	0.09897	0.853000	0.35312	0.379000	0.24179	TCG		0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		32	67	0	0	0	1	0	32	67				
DSP	1832	broad.mit.edu	37	6	7581190	7581190	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:7581190C>T	ENST00000379802.3	+	23	5108	c.4767C>T	c.(4765-4767)tgC>tgT	p.C1589C	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1589	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGACTCCTGCAAGAGGAAGA	0.557																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(4765-4767)tgC>tgT		desmoplakin																																				SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581190C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4767C>T	6.37:g.7581190C>T						DSP_ENST00000418664.2_Intron	p.C1589C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	5108	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1589			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.4767C>T	CCDS4501.1																																																																																				0.557	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		11	23	0	0	0	1	0	11	23				
PFKP	5214	broad.mit.edu	37	10	3161029	3161029	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:3161029A>G	ENST00000381125.4	+	15	1574	c.1498A>G	c.(1498-1500)Atc>Gtc	p.I500V	PFKP_ENST00000381075.2_Missense_Mutation_p.I492V	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	500	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CACGCACAGCATCAACGCGCT	0.547																																						ENST00000381075.2																			0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1474-1476)Atc>Gtc		phosphofructokinase, platelet							184.0	141.0	156.0					10																	3161029		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3161029A>G	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1498A>G	10.37:g.3161029A>G	ENSP00000370517:p.Ile500Val					PFKP_ENST00000381125.4_Missense_Mutation_p.I500V	p.I492V	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	17	1698	+			500					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.1474A>G	CCDS7059.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.21|11.21	1.571944|1.571944	0.28092|0.28092	.|.	.|.	ENSG00000067057|ENSG00000067057	ENST00000413079|ENST00000381125;ENST00000397834;ENST00000381075	.|D;D	.|0.84944	.|-1.92;-1.92	5.32|5.32	2.87|2.87	0.33458|0.33458	.|Phosphofructokinase domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87156|0.87156	0.6107|0.6107	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.25169	.|0.119;0.119;0.09	.|B;B;B	.|0.35073	.|0.195;0.195;0.076	D|D	0.84022|0.84022	0.0354|0.0354	5|10	.|0.87932	.|D	.|0	.|.	12.0127|12.0127	0.53297|0.53297	0.7257:0.2743:0.0:0.0|0.7257:0.2743:0.0:0.0	.|.	.|492;492;500	.|B3KS15;Q5VSR7;Q01813	.|.;.;K6PP_HUMAN	R|V	63|500;489;492	.|ENSP00000370517:I500V;ENSP00000370465:I492V	.|ENSP00000370465:I492V	H|I	+|+	2|1	0|0	PFKP|PFKP	3151029|3151029	1.000000|1.000000	0.71417|0.71417	0.056000|0.056000	0.19401|0.19401	0.005000|0.005000	0.04900|0.04900	7.260000|7.260000	0.78391|0.78391	0.286000|0.286000	0.22352|0.22352	0.459000|0.459000	0.35465|0.35465	CAT|ATC		0.547	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		15	39	0	0	0	1	0	15	39				
VANGL2	57216	broad.mit.edu	37	1	160389021	160389021	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:160389021G>C	ENST00000368061.2	+	4	896	c.422G>C	c.(421-423)tGc>tCc	p.C141S		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	141					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGAGCCTTGCGGGACGGCC	0.677																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(421-423)tGc>tCc		VANGL planar cell polarity protein 2							39.0	40.0	40.0					1																	160389021		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160389021G>C	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.422G>C	1.37:g.160389021G>C	ENSP00000357040:p.Cys141Ser						p.C141S	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	896	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		141					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.422G>C	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491693	0.84962	.	.	ENSG00000162738	ENST00000368061	D	0.87887	-2.31	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	M	0.90252	3.1	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	D	0.95046	0.8182	10	0.87932	D	0	-43.3284	17.3919	0.87434	0.0:0.0:1.0:0.0	.	141	Q9ULK5	VANG2_HUMAN	S	141	ENSP00000357040:C141S	ENSP00000357040:C141S	C	+	2	0	VANGL2	158655645	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.341000	0.97041	2.503000	0.84419	0.563000	0.77884	TGC		0.677	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		19	54	0	0	0	1	0	19	54				
CEP112	201134	broad.mit.edu	37	17	63898298	63898298	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:63898298A>G	ENST00000392769.2	-	20	2353	c.2135T>C	c.(2134-2136)aTt>aCt	p.I712T	CEP112_ENST00000535342.2_Missense_Mutation_p.I712T|CEP112_ENST00000541355.1_Missense_Mutation_p.I347T|CEP112_ENST00000537949.1_Missense_Mutation_p.I670T	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	712					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GAACTCCTGAATTTGATTTTC	0.378																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2134-2136)aTt>aCt		centrosomal protein 112kDa							129.0	111.0	117.0					17																	63898298		2202	4300	6502	SO:0001583	missense	201134					centrosome		g.chr17:63898298A>G	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2135T>C	17.37:g.63898298A>G	ENSP00000376522:p.Ile712Thr					CEP112_ENST00000541355.1_Missense_Mutation_p.I347T|CEP112_ENST00000537949.1_Missense_Mutation_p.I670T|CEP112_ENST00000535342.2_Missense_Mutation_p.I712T	p.I712T	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			20	2353	-			712					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.2135T>C	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.923077	0.00498	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000541355;ENST00000537949	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.84	5.84	0.93424	.	0.124283	0.53938	D	0.000054	T	0.15912	0.0383	N	0.04203	-0.255	0.30121	N	0.805656	B;B;B	0.22003	0.063;0.008;0.063	B;B;B	0.16289	0.009;0.009;0.015	T	0.25984	-1.0116	10	0.07644	T	0.81	-12.7432	4.6961	0.12804	0.6789:0.1728:0.1483:0.0	.	670;670;712	F5GYE8;A2RRR7;Q8N8E3	.;.;CE112_HUMAN	T	712;712;347;670	ENSP00000442784:I712T;ENSP00000376522:I712T;ENSP00000443711:I347T;ENSP00000440775:I670T	ENSP00000376522:I712T	I	-	2	0	CEP112	61328760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.040000	0.49799	2.230000	0.72887	0.528000	0.53228	ATT		0.378	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		8	22	0	0	0	1	0	8	22				
ZNF423	23090	broad.mit.edu	37	16	49671513	49671513	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:49671513A>G	ENST00000561648.1	-	4	1603	c.1550T>C	c.(1549-1551)tTc>tCc	p.F517S	ZNF423_ENST00000567169.1_Missense_Mutation_p.F400S|ZNF423_ENST00000562871.1_Missense_Mutation_p.F457S|ZNF423_ENST00000262383.2_Missense_Mutation_p.F517S|ZNF423_ENST00000535559.1_Missense_Mutation_p.F400S|ZNF423_ENST00000563137.2_Missense_Mutation_p.F457S|ZNF423_ENST00000562520.1_Missense_Mutation_p.F457S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	517					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTTGCAGAAGAAAGCATTATT	0.577																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(1549-1551)tTc>tCc		zinc finger protein 423							94.0	93.0	94.0					16																	49671513		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671513A>G	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1550T>C	16.37:g.49671513A>G	ENSP00000455426:p.Phe517Ser					ZNF423_ENST00000563137.2_Missense_Mutation_p.F457S|ZNF423_ENST00000535559.1_Missense_Mutation_p.F400S|ZNF423_ENST00000562520.1_Missense_Mutation_p.F457S|ZNF423_ENST00000262383.2_Missense_Mutation_p.F517S|ZNF423_ENST00000567169.1_Missense_Mutation_p.F400S|ZNF423_ENST00000562871.1_Missense_Mutation_p.F457S	p.F517S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	1603	-		all_cancers(37;0.0155)	517					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1550T>C	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.585778	0.46110	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.32988	1.43;1.43	4.64	4.64	0.57946	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	L	0.34521	1.04	0.48830	D	0.999717	D	0.89917	1.0	D	0.91635	0.999	T	0.22591	-1.0212	9	.	.	.	.	14.0823	0.64932	1.0:0.0:0.0:0.0	.	517	Q2M1K9	ZN423_HUMAN	S	517;400	ENSP00000262383:F517S;ENSP00000442321:F400S	.	F	-	2	0	ZNF423	48229014	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	8.962000	0.93254	1.733000	0.51620	0.459000	0.35465	TTC		0.577	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		22	16	0	0	0	1	0	22	16				
PADI1	29943	broad.mit.edu	37	1	17570512	17570512	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:17570512T>C	ENST00000375471.4	+	16	1858	c.1766T>C	c.(1765-1767)aTg>aCg	p.M589T	PADI1_ENST00000536552.1_Missense_Mutation_p.M60T|PADI1_ENST00000537499.1_Missense_Mutation_p.M146T|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Missense_Mutation_p.M104T	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	589					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CAGGTTAACATGGTGGTCTTA	0.582																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(1765-1767)aTg>aCg		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						82.0	76.0	78.0					1																	17570512		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17570512T>C	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1766T>C	1.37:g.17570512T>C	ENSP00000364620:p.Met589Thr					PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Missense_Mutation_p.M104T|PADI1_ENST00000536552.1_Missense_Mutation_p.M60T|PADI1_ENST00000537499.1_Missense_Mutation_p.M146T	p.M589T	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	16	1858	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	589					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.1766T>C	CCDS178.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.730428	0.69074	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000413717;ENST00000536552	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.04	5.04	0.67666	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.85041	2.73	0.50313	D	0.999869	D;D	0.71674	0.998;0.996	D;D	0.70935	0.967;0.971	T	0.62877	-0.6761	10	0.46703	T	0.11	-47.4111	13.6313	0.62196	0.0:0.0:0.0:1.0	.	104;589	B4DPX6;Q9ULC6	.;PADI1_HUMAN	T	589;146;104;60	ENSP00000364620:M589T;ENSP00000444032:M146T;ENSP00000396697:M104T;ENSP00000444833:M60T	ENSP00000364620:M589T	M	+	2	0	PADI1	17443099	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.803000	0.85983	1.901000	0.55032	0.459000	0.35465	ATG		0.582	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		7	17	0	0	0	1	0	7	17				
HNF4A	3172	broad.mit.edu	37	20	43030034	43030034	+	Missense_Mutation	SNP	G	G	A	rs537703038		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:43030034G>A	ENST00000316099.4	+	1	111	c.22G>A	c.(22-24)Gtc>Atc	p.V8I	HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.2_Missense_Mutation_p.V8I|HNF4A_ENST00000609795.1_Intron|HNF4A_ENST00000443598.2_Missense_Mutation_p.V8I|HNF4A_ENST00000316673.4_Intron	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	8					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAAAACCCTCGTCGACATGGA	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15147	0.0		0.0	False		,,,				2504	0.0				Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(22-24)Gtc>Atc		hepatocyte nuclear factor 4, alpha							170.0	132.0	145.0					20																	43030034		2203	4300	6503	SO:0001583	missense	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43030034G>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.22G>A	20.37:g.43030034G>A	ENSP00000312987:p.Val8Ile					HNF4A_ENST00000443598.2_Missense_Mutation_p.V8I|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000415691.1_Missense_Mutation_p.V8I	p.V8I	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	111	+		Myeloproliferative disorder(115;0.0122)	8					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Missense_Mutation	SNP	ENST00000316099.4	37	c.22G>A	CCDS13330.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.603092	0.46423	.	.	ENSG00000101076	ENST00000316099;ENST00000443598;ENST00000338692;ENST00000415691	D;D;D	0.92495	-2.96;-3.05;-2.95	5.23	5.23	0.72850	.	.	.	.	.	T	0.80824	0.4697	N	0.08118	0	0.22511	N	0.999039	B;B;B	0.16166	0.007;0.003;0.016	B;B;B	0.11329	0.002;0.002;0.006	T	0.66139	-0.5998	9	0.19147	T	0.46	.	6.2825	0.21015	0.124:0.1791:0.6968:0.0	.	8;8;8	P41235;F1D8S2;P41235-3	HNF4A_HUMAN;.;.	I	8	ENSP00000312987:V8I;ENSP00000410911:V8I;ENSP00000412111:V8I	ENSP00000312987:V8I	V	+	1	0	HNF4A	42463448	1.000000	0.71417	0.755000	0.31263	0.988000	0.76386	4.972000	0.63756	2.440000	0.82611	0.555000	0.69702	GTC		0.642	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			44	58	0	0	0	1	0	44	58				
DOK5	55816	broad.mit.edu	37	20	53266975	53266975	+	Missense_Mutation	SNP	T	T	C	rs201718507		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:53266975T>C	ENST00000262593.5	+	8	1228	c.878T>C	c.(877-879)cTt>cCt	p.L293P	DOK5_ENST00000395939.1_Missense_Mutation_p.L185P	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	293					MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCTCTGAAGCTTCATCGAACA	0.403																																						ENST00000262593.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(877-879)cTt>cCt		docking protein 5							89.0	78.0	81.0					20																	53266975		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53266975T>C	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.878T>C	20.37:g.53266975T>C	ENSP00000262593:p.Leu293Pro					DOK5_ENST00000395939.1_Missense_Mutation_p.L185P	p.L293P	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		8	1228	+			293					Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.878T>C	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099573	0.76983	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	D;D	0.92858	-2.11;-3.12	5.79	5.79	0.91817	.	0.124864	0.52532	D	0.000061	D	0.91389	0.7283	N	0.14661	0.345	0.80722	D	1	B;D	0.65815	0.001;0.995	B;D	0.72982	0.002;0.979	D	0.90077	0.4167	10	0.22706	T	0.39	-10.288	15.3115	0.74035	0.0:0.0:0.0:1.0	.	185;293	Q9P104-2;Q9P104	.;DOK5_HUMAN	P	293;185	ENSP00000262593:L293P;ENSP00000379270:L185P	ENSP00000262593:L293P	L	+	2	0	DOK5	52700382	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.133000	0.64764	2.207000	0.71202	0.533000	0.62120	CTT		0.403	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			9	20	0	0	0	1	0	9	20				
TXNDC2	84203	broad.mit.edu	37	18	9887610	9887610	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:9887610A>G	ENST00000306084.6	+	2	1333	c.1134A>G	c.(1132-1134)ccA>ccG	p.P378P	TXNDC2_ENST00000357775.5_Silent_p.P311P|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	378	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCAAGTCTCCAAAACAAGCCA	0.552																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1132-1134)ccA>ccG		thioredoxin domain containing 2 (spermatozoa)							134.0	124.0	127.0					18																	9887610		2203	4300	6503	SO:0001819	synonymous_variant	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887610A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1134A>G	18.37:g.9887610A>G						TXNDC2_ENST00000357775.4_Silent_p.P311P|TXNDC2_ENST00000536353.2_3'UTR	p.P378P	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1333	+			378			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.1134A>G	CCDS42414.1																																																																																				0.552	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			448	62	0	0	0	1	0	448	62				
SERPINI2	5276	broad.mit.edu	37	3	167183177	167183177	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:167183177G>C	ENST00000476257.1	-	6	981	c.683C>G	c.(682-684)tCt>tGt	p.S228C	SERPINI2_ENST00000471111.1_Missense_Mutation_p.S228C|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S228C|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S228C			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	228					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GGAAGATTCAGAAAAATAACC	0.313																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(682-684)tCt>tGt		serpin peptidase inhibitor, clade I (pancpin), member 2							80.0	88.0	85.0					3																	167183177		2203	4299	6502	SO:0001583	missense	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167183177G>C	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.683C>G	3.37:g.167183177G>C	ENSP00000420621:p.Ser228Cys					SERPINI2_ENST00000461846.1_Missense_Mutation_p.S228C|SERPINI2_ENST00000264677.4_Missense_Mutation_p.S228C|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S228C	p.S228C			O75830	SPI2_HUMAN			6	981	-			228						Missense_Mutation	SNP	ENST00000476257.1	37	c.683C>G	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175900	0.38413	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.6	4.72	0.59763	Serpin domain (3);	0.524565	0.20747	N	0.086439	D	0.92277	0.7550	M	0.84683	2.71	0.40617	D	0.981721	D;D	0.89917	1.0;1.0	D;D	0.70487	0.969;0.946	D	0.93114	0.6519	10	0.66056	D	0.02	.	13.771	0.63023	0.0763:0.0:0.9237:0.0	.	228;228	B4DDY9;O75830	.;SPI2_HUMAN	C	228	ENSP00000420621:S228C;ENSP00000417692:S228C;ENSP00000264677:S228C;ENSP00000419407:S228C	ENSP00000264677:S228C	S	-	2	0	SERPINI2	168665871	0.999000	0.42202	0.962000	0.40283	0.100000	0.18952	3.098000	0.50259	2.650000	0.89964	0.561000	0.74099	TCT		0.313	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217		12	23	0	0	0	1	0	12	23				
ITGA4	3676	broad.mit.edu	37	2	182344897	182344897	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:182344897T>C	ENST00000397033.2	+	6	1088	c.658T>C	c.(658-660)Tac>Cac	p.Y220H		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	220					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AGGATCATCTTACTGGACTGG	0.328																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(658-660)Tac>Cac		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						60.0	57.0	58.0					2																	182344897		1787	4052	5839	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182344897T>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.658T>C	2.37:g.182344897T>C	ENSP00000380227:p.Tyr220His						p.Y220H	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		6	1088	+			220					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.658T>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607398	0.66558	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.60424	0.19;0.19	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.78666	0.4319	M	0.82517	2.595	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.81389	-0.0955	10	0.66056	D	0.02	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	220;220	E7EP60;P13612	.;ITA4_HUMAN	H	220	ENSP00000380227:Y220H;ENSP00000233573:Y220H	ENSP00000233573:Y220H	Y	+	1	0	ITGA4	182053142	1.000000	0.71417	0.661000	0.29709	0.865000	0.49528	7.249000	0.78278	2.320000	0.78422	0.528000	0.53228	TAC		0.328	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			4	15	0	0	0	1	0	4	15				
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:7577142C>A	ENST00000269305.4	-	8	985	c.796G>T	c.(796-798)Gga>Tga	p.G266*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.G266*|TP53_ENST00000420246.2_Nonsense_Mutation_p.G266*|TP53_ENST00000455263.2_Nonsense_Mutation_p.G266*|TP53_ENST00000445888.2_Nonsense_Mutation_p.G266*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGTTCCGTCCCAGTAGATTA	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		86	Substitution - Missense(47)|Substitution - Nonsense(14)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)|Insertion - Frameshift(1)	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(16)|large_intestine(11)|ovary(8)|central_nervous_system(6)|urinary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(2)|skin(2)|pancreas(2)|biliary_tract(1)|peritoneum(1)|salivary_gland(1)|endometrium(1)|eye(1)|pleura(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(796-798)Gga>Tga	Other conserved DNA damage response genes	tumor protein p53							49.0	44.0	46.0					17																	7577142		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577142C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.796G>T	17.37:g.7577142C>A	ENSP00000269305:p.Gly266*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.G266*|TP53_ENST00000359597.4_Nonsense_Mutation_p.G266*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.G266*|TP53_ENST00000455263.2_Nonsense_Mutation_p.G266*	p.G266*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	928	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.796G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	37	6.155854	0.97334	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	.	.	.	X	266;266;266;266;266;255;134	.	ENSP00000269305:G266X	G	-	1	0	TP53	7517867	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	14	1	0	0.0293803	1	0.0304045	5	14				
BSND	7809	broad.mit.edu	37	1	55474122	55474122	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:55474122G>A	ENST00000371265.4	+	4	1038	c.784G>A	c.(784-786)Gcc>Acc	p.A262T		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	262					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GTGGGAAATAGCCCTGCCCAA	0.597																																					Ovarian(191;1657 2078 22894 42033 48899)	ENST00000371265.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(784-786)Gcc>Acc		Bartter syndrome, infantile, with sensorineural deafness (Barttin)							60.0	60.0	60.0					1																	55474122		2203	4300	6503	SO:0001583	missense	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55474122G>A	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.784G>A	1.37:g.55474122G>A	ENSP00000360312:p.Ala262Thr						p.A262T	NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN			4	1038	+			262					Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	c.784G>A	CCDS602.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185740	0.38609	.	.	ENSG00000162399	ENST00000371265	D	0.88277	-2.36	4.53	2.6	0.31112	.	0.341612	0.24037	N	0.042133	D	0.84460	0.5477	M	0.68317	2.08	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.75439	-0.3317	10	0.56958	D	0.05	-6.4243	3.9588	0.09401	0.2464:0.1939:0.5597:0.0	.	262	Q8WZ55	BSND_HUMAN	T	262	ENSP00000360312:A262T	ENSP00000360312:A262T	A	+	1	0	BSND	55246710	0.004000	0.15560	0.003000	0.11579	0.074000	0.17049	1.492000	0.35594	0.604000	0.29930	0.549000	0.68633	GCC		0.597	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		8	20	0	0	0	1	0	8	20				
KRTAP5-11	440051	broad.mit.edu	37	11	71293705	71293705	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:71293705C>T	ENST00000398530.1	-	1	216	c.179G>A	c.(178-180)tGt>tAt	p.C60Y	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	60	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGAGCCCCCACAGGAGCCACA	0.637																																						ENST00000398530.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(178-180)tGt>tAt		keratin associated protein 5-11							93.0	117.0	109.0					11																	71293705		2199	4293	6492	SO:0001583	missense	440051					keratin filament		g.chr11:71293705C>T	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.179G>A	11.37:g.71293705C>T	ENSP00000381541:p.Cys60Tyr					KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	p.C60Y	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN			1	216	-			60			6 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000398530.1	37	c.179G>A	CCDS41685.1	.	.	.	.	.	.	.	.	.	.	.	9.362	1.068166	0.20067	.	.	ENSG00000204571	ENST00000376535;ENST00000398530	T	0.01215	5.16	2.11	2.11	0.27256	.	.	.	.	.	T	0.07413	0.0187	M	0.90759	3.145	0.29346	N	0.865652	D	0.64830	0.994	D	0.67725	0.953	T	0.01440	-1.1354	9	0.72032	D	0.01	.	10.2972	0.43631	0.0:1.0:0.0:0.0	.	60	Q6L8G4	KR511_HUMAN	Y	60	ENSP00000381541:C60Y	ENSP00000365718:C60Y	C	-	2	0	KRTAP5-11	70971353	0.813000	0.29090	1.000000	0.80357	0.490000	0.33462	1.479000	0.35453	1.471000	0.48121	0.447000	0.29281	TGT		0.637	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		70	162	0	0	0	1	0	70	162				
MYH6	4624	broad.mit.edu	37	14	23869490	23869490	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:23869490T>C	ENST00000356287.3	-	13	1585	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	MYH6_ENST00000405093.3_Missense_Mutation_p.Q519R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	519	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AATGCAGGCCTGCAGGTCCAT	0.552																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(1555-1557)cAg>cGg		myosin, heavy chain 6, cardiac muscle, alpha							244.0	176.0	199.0					14																	23869490		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23869490T>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1556A>G	14.37:g.23869490T>C	ENSP00000348634:p.Gln519Arg					MYH6_ENST00000356287.3_Missense_Mutation_p.Q519R	p.Q519R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	14	1626	-	all_cancers(95;2.54e-05)		519			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1556A>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	18.23	3.576925	0.65878	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.88818	-2.43;-2.43	4.28	4.28	0.50868	Myosin head, motor domain (3);	.	.	.	.	D	0.93575	0.7949	M	0.88570	2.965	0.43255	D	0.99518	P;P	0.39131	0.661;0.661	P;P	0.54100	0.742;0.742	D	0.93924	0.7208	9	0.62326	D	0.03	.	10.4231	0.44363	0.0:0.0:0.1631:0.8369	.	519;519	D9YZU2;P13533	.;MYH6_HUMAN	R	519	ENSP00000386041:Q519R;ENSP00000348634:Q519R	ENSP00000348634:Q519R	Q	-	2	0	MYH6	22939330	0.888000	0.30383	1.000000	0.80357	0.992000	0.81027	0.388000	0.20735	1.705000	0.51264	0.528000	0.53228	CAG		0.552	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			18	36	0	0	0	1	0	18	36				
DIO2	1734	broad.mit.edu	37	14	80669344	80669344	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:80669344C>A	ENST00000557010.1	-	4	895	c.510G>T	c.(508-510)tgG>tgT	p.W170C	DIO2_ENST00000438257.4_Missense_Mutation_p.W170C|DIO2_ENST00000555750.1_Missense_Mutation_p.W206C|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_Missense_Mutation_p.G45V	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	170					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCGGTATCGCCCAGCCATCTG	0.557											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(508-510)tgG>tgT		deiodinase, iodothyronine, type II							57.0	60.0	59.0					14																	80669344		2069	4200	6269	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669344C>A	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.510G>T	14.37:g.80669344C>A	ENSP00000451419:p.Trp170Cys		OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.W170C|DIO2_ENST00000555750.1_Missense_Mutation_p.W206C|DIO2_ENST00000557125.1_Missense_Mutation_p.G45V	p.W170C	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	895	-			170					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.510G>T	CCDS45146.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.20|18.20	3.570267|3.570267	0.65765|0.65765	.|.	.|.	ENSG00000211448|ENSG00000211448	ENST00000557125|ENST00000438257;ENST00000557010;ENST00000555750	.|T;T;T	.|0.55930	.|0.49;0.49;0.49	5.77|5.77	4.88|4.88	0.63580|0.63580	.|Thioredoxin-like fold (1);	.|0.170233	.|0.38837	.|N	.|0.001558	T|T	0.78729|0.78729	0.4329|0.4329	M|M	0.92784|0.92784	3.345|3.345	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.84593|0.84593	0.0668|0.0668	5|10	.|0.87932	.|D	.|0	.|.	15.0032|15.0032	0.71489|0.71489	0.0:0.9314:0.0:0.0686|0.0:0.9314:0.0:0.0686	.|.	.|206;170;206	.|Q92813-2;Q92813;G3V315	.|.;IOD2_HUMAN;.	V|C	45|170;170;206	.|ENSP00000405854:W170C;ENSP00000451419:W170C;ENSP00000450980:W206C	.|ENSP00000405854:W170C	G|W	-|-	2|3	0|0	DIO2|DIO2	79739097|79739097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.855000|0.855000	0.48748|0.48748	7.625000|7.625000	0.83145|0.83145	1.441000|1.441000	0.47550|0.47550	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.557	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			13	20	1	0	9.31168e-06	1	1.11693e-05	13	20				
SPATA16	83893	broad.mit.edu	37	3	172766826	172766826	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:172766826G>A	ENST00000351008.3	-	3	854	c.671C>T	c.(670-672)gCa>gTa	p.A224V		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	224					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGCCACGCTTGCTATATCTTC	0.383																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(670-672)gCa>gTa		spermatogenesis associated 16							102.0	91.0	95.0					3																	172766826		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172766826G>A	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.671C>T	3.37:g.172766826G>A	ENSP00000341765:p.Ala224Val						p.A224V	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		3	854	-	Ovarian(172;0.00319)|Breast(254;0.197)		224					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.671C>T	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385533	0.82792	.	.	ENSG00000144962	ENST00000351008	T	0.19806	2.12	5.07	5.07	0.68467	Tetratricopeptide-like helical (1);	0.224229	0.31507	N	0.007531	T	0.17280	0.0415	N	0.24115	0.695	0.34764	D	0.733057	P	0.37330	0.59	B	0.36378	0.223	T	0.24154	-1.0168	10	0.72032	D	0.01	-9.0566	16.5798	0.84712	0.0:0.0:1.0:0.0	.	224	Q9BXB7	SPT16_HUMAN	V	224	ENSP00000341765:A224V	ENSP00000341765:A224V	A	-	2	0	SPATA16	174249520	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	3.236000	0.51336	2.528000	0.85240	0.655000	0.94253	GCA		0.383	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		9	20	0	0	0	1	0	9	20				
SLC35G3	146861	broad.mit.edu	37	17	33521324	33521324	+	Start_Codon_SNP	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:33521324C>A	ENST00000297307.5	-	1	88	c.3G>T	c.(1-3)atG>atT	p.M1I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	1						integral component of membrane (GO:0016021)											GACTGCCAGCCATCTTTCCTT	0.627																																						ENST00000297307.5																			0											c.(1-3)atG>atT		solute carrier family 35, member G3							71.0	69.0	70.0					17																	33521324		2203	4300	6503	SO:0001582	initiator_codon_variant	146861					integral to membrane		g.chr17:33521324C>A	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.3G>T	17.37:g.33521324C>A	ENSP00000297307:p.Met1Ile						p.M1I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	88	-			1					B9EGE9	Translation_Start_Site	SNP	ENST00000297307.5	37	c.3G>T	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	8.576	0.881082	0.17467	.	.	ENSG00000164729	ENST00000297307	T	0.27256	1.68	.	.	.	.	0.471101	0.19111	N	0.122459	T	0.27205	0.0667	.	.	.	0.80722	D	1	P	0.35872	0.525	B	0.42214	0.38	T	0.06534	-1.0821	7	0.59425	D	0.04	0.17	.	.	.	.	1	Q8N808	S35G3_HUMAN	I	1	ENSP00000297307:M1I	ENSP00000297307:M1I	M	-	3	0	SLC35G3	30545437	0.359000	0.24955	0.334000	0.25495	0.344000	0.29017	0.076000	0.14712	0.064000	0.16427	0.064000	0.15345	ATG		0.627	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462	Missense_Mutation	11	32	1	0	0.000978159	1	0.00108052	11	32				
NDRG2	57447	broad.mit.edu	37	14	21486369	21486369	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:21486369C>A	ENST00000556147.1	-	14	1831	c.891G>T	c.(889-891)ctG>ctT	p.L297L	NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000298684.5_Silent_p.L254L|NDRG2_ENST00000553503.1_Silent_p.L283L|NDRG2_ENST00000397847.2_Silent_p.L286L|NDRG2_ENST00000350792.3_Silent_p.L283L|NDRG2_ENST00000554143.1_Silent_p.L283L|NDRG2_ENST00000397856.3_Silent_p.L267L|NDRG2_ENST00000554104.1_Silent_p.L210L|NDRG2_ENST00000555158.1_Silent_p.L283L|NDRG2_ENST00000397853.3_Silent_p.L297L|NDRG2_ENST00000397844.2_Silent_p.L267L|NDRG2_ENST00000397855.3_Silent_p.L254L|NDRG2_ENST00000360463.3_Silent_p.L283L|NDRG2_ENST00000397858.1_Silent_p.L297L|NDRG2_ENST00000397851.2_Silent_p.L297L|NDRG2_ENST00000403829.3_Silent_p.L293L|NDRG2_ENST00000298687.5_Silent_p.L297L			Q9UN36	NDRG2_HUMAN	NDRG family member 2	297					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCACCTGAGTCAGCTGGGGCT	0.592																																						ENST00000556147.1																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(889-891)ctG>ctT		NDRG family member 2							43.0	41.0	41.0					14																	21486369		2203	4300	6503	SO:0001819	synonymous_variant	57447				cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm		g.chr14:21486369C>A	AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.891G>T	14.37:g.21486369C>A						NDRG2_ENST00000360463.3_Silent_p.L283L|NDRG2_ENST00000397858.1_Silent_p.L297L|NDRG2_ENST00000298684.5_Silent_p.L254L|NDRG2_ENST00000397856.3_Silent_p.L267L|NDRG2_ENST00000298687.5_Silent_p.L297L|NDRG2_ENST00000397844.2_Silent_p.L267L|NDRG2_ENST00000403829.3_Silent_p.L293L|NDRG2_ENST00000397847.2_Silent_p.L286L|NDRG2_ENST00000554143.1_Silent_p.L283L|NDRG2_ENST00000554104.1_Silent_p.L210L|NDRG2_ENST00000397851.2_Silent_p.L297L|NDRG2_ENST00000397853.3_Silent_p.L297L|NDRG2_ENST00000350792.3_Silent_p.L283L|NDRG2_ENST00000397855.3_Silent_p.L254L|NDRG2_ENST00000555158.1_Silent_p.L283L|NDRG2_ENST00000553503.1_Silent_p.L283L	p.L297L			Q9UN36	NDRG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	14	1831	-	all_cancers(95;0.00185)		297					B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Silent	SNP	ENST00000556147.1	37	c.891G>T	CCDS9565.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.272084	0.23221	.	.	ENSG00000165795	ENST00000553593	.	.	.	5.56	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.4045	8.1401	0.31078	0.0:0.7482:0.0:0.2518	.	.	.	.	L	213	.	.	X	-	2	2	NDRG2	20556209	0.941000	0.31946	1.000000	0.80357	0.991000	0.79684	0.010000	0.13242	1.352000	0.45808	0.655000	0.94253	TGA		0.592	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1			13	22	1	0	9.31168e-06	1	1.11693e-05	13	22				
SMOC1	64093	broad.mit.edu	37	14	70478250	70478250	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:70478250G>T	ENST00000381280.4	+	9	1159	c.906G>T	c.(904-906)gaG>gaT	p.E302D	SMOC1_ENST00000361956.3_Missense_Mutation_p.E302D	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	302					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGACTACAGAGGCGGATGACC	0.602																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(904-906)gaG>gaT		SPARC related modular calcium binding 1							87.0	78.0	81.0					14																	70478250		2203	4300	6503	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70478250G>T	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.906G>T	14.37:g.70478250G>T	ENSP00000370680:p.Glu302Asp					SMOC1_ENST00000361956.3_Missense_Mutation_p.E302D	p.E302D	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	9	1159	+			302					A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.906G>T	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	G	5.072	0.199032	0.09652	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.58506	0.33;0.33	5.22	2.4	0.29515	EF-hand-like domain (1);	0.181808	0.48286	D	0.000200	T	0.30293	0.0760	N	0.11560	0.145	0.33547	D	0.595636	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.0	T	0.15665	-1.0429	10	0.20519	T	0.43	-17.9048	4.6848	0.12752	0.2445:0.0:0.6043:0.1513	.	302;302	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	D	302	ENSP00000355110:E302D;ENSP00000370680:E302D	ENSP00000355110:E302D	E	+	3	2	SMOC1	69548003	0.055000	0.20627	0.085000	0.20634	0.292000	0.27327	0.213000	0.17521	0.229000	0.21039	0.561000	0.74099	GAG		0.602	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			6	39	1	0	0.00307968	1	0.00334748	6	39				
MRGPRX4	117196	broad.mit.edu	37	11	18195471	18195471	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:18195471T>A	ENST00000314254.3	+	1	1088	c.668T>A	c.(667-669)cTg>cAg	p.L223Q	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTCACAGTGCTGGTCTTCCTC	0.537																																						ENST00000314254.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(667-669)cTg>cAg		MAS-related GPR, member X4							114.0	104.0	107.0					11																	18195471		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195471T>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.668T>A	11.37:g.18195471T>A	ENSP00000314042:p.Leu223Gln					RP11-113D6.6_ENST00000527671.1_Intron	p.L223Q	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN			1	1088	+			223					Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.668T>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.183674	0.78677	.	.	ENSG00000179817	ENST00000314254	T	0.46451	0.87	2.85	2.85	0.33270	GPCR, rhodopsin-like superfamily (1);	0.119263	0.37715	N	0.001964	T	0.69628	0.3132	H	0.94964	3.605	0.24481	N	0.994344	D	0.89917	1.0	D	0.97110	1.0	T	0.62487	-0.6844	10	0.87932	D	0	.	9.102	0.36673	0.0:0.0:0.0:1.0	.	223	Q96LA9	MRGX4_HUMAN	Q	223	ENSP00000314042:L223Q	ENSP00000314042:L223Q	L	+	2	0	MRGPRX4	18152047	0.069000	0.21087	1.000000	0.80357	0.846000	0.48090	1.927000	0.40094	1.320000	0.45209	0.352000	0.21897	CTG		0.537	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		15	30	0	0	0	1	0	15	30				
SESN3	143686	broad.mit.edu	37	11	94924659	94924659	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:94924659T>G	ENST00000536441.1	-	3	587	c.251A>C	c.(250-252)cAg>cCg	p.Q84P	SESN3_ENST00000416495.2_Missense_Mutation_p.Q84P|SESN3_ENST00000537480.1_5'Flank|SESN3_ENST00000393234.1_Missense_Mutation_p.Q84P|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.Q6P|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	84					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CTCCAGGTACTGAGTGTGTAA	0.463																																						ENST00000536441.1																			0				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16						c.(250-252)cAg>cCg		sestrin 3							196.0	166.0	176.0					11																	94924659		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94924659T>G	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.251A>C	11.37:g.94924659T>G	ENSP00000441927:p.Gln84Pro					RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.Q6P|SESN3_ENST00000393234.1_Missense_Mutation_p.Q84P|SESN3_ENST00000416495.2_Missense_Mutation_p.Q84P	p.Q84P	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	3	587	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	84					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.251A>C	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295996	0.81025	.	.	ENSG00000149212	ENST00000536441;ENST00000278499;ENST00000393234;ENST00000416495;ENST00000542176	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;1.83	5.82	5.82	0.92795	.	0.065165	0.64402	D	0.000006	T	0.66426	0.2788	M	0.82630	2.6	0.80722	D	1	D;D;D	0.76494	0.971;0.999;0.996	P;D;P	0.64776	0.773;0.929;0.898	T	0.71080	-0.4696	10	0.59425	D	0.04	-2.9061	16.1814	0.81903	0.0:0.0:0.0:1.0	.	6;84;84	B7Z7P9;P58005-3;P58005	.;.;SESN3_HUMAN	P	84;6;84;84;61	ENSP00000441927:Q84P;ENSP00000278499:Q6P;ENSP00000376926:Q84P;ENSP00000407008:Q84P;ENSP00000439580:Q61P	ENSP00000278499:Q6P	Q	-	2	0	SESN3	94564307	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	4.645000	0.61404	2.234000	0.73211	0.533000	0.62120	CAG		0.463	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		19	39	0	0	0	1	0	19	39				
TECTA	7007	broad.mit.edu	37	11	121016587	121016587	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:121016587C>T	ENST00000392793.1	+	12	4138	c.3867C>T	c.(3865-3867)gcC>gcT	p.A1289A	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Silent_p.A1289A			O75443	TECTA_HUMAN	tectorin alpha	1289	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTCCTGTGCCAAGGTGGAAG	0.572																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(3865-3867)gcC>gcT		tectorin alpha							115.0	104.0	108.0					11																	121016587		2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121016587C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3867C>T	11.37:g.121016587C>T						TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Silent_p.A1289A	p.A1289A			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	12	4138	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1289			VWFD 3.			Silent	SNP	ENST00000392793.1	37	c.3867C>T	CCDS8434.1																																																																																				0.572	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		17	52	0	0	0	1	0	17	52				
ZNF548	147694	broad.mit.edu	37	19	57910124	57910124	+	Nonsense_Mutation	SNP	G	G	T	rs371955325		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:57910124G>T	ENST00000366197.5	+	3	719	c.469G>T	c.(469-471)Gag>Tag	p.E157*	AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.E169*|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	157					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(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACATGCATGGAGGGCTGGAA	0.517																																						ENST00000366197.5																			0				breast(1)	1						c.(469-471)Gag>Tag		zinc finger protein 548							71.0	71.0	71.0					19																	57910124		2069	4223	6292	SO:0001587	stop_gained	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910124G>T	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.469G>T	19.37:g.57910124G>T	ENSP00000379482:p.Glu157*					AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Nonsense_Mutation_p.E169*	p.E157*	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	719	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	157					Q96M05	Nonsense_Mutation	SNP	ENST00000366197.5	37	c.469G>T	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.920388	0.73098	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	.	.	.	2.69	0.527	0.17084	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	5.0885	0.14696	0.418:0.0:0.582:0.0	.	.	.	.	X	169;157	.	ENSP00000337555:E169X	E	+	1	0	ZNF548	62601936	0.797000	0.28877	0.001000	0.08648	0.008000	0.06430	1.801000	0.38843	0.233000	0.21120	-0.229000	0.12294	GAG		0.517	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		27	17	1	0	2.47511e-08	1	3.26577e-08	27	17				
CNTN4	152330	broad.mit.edu	37	3	2942464	2942464	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:2942464A>C	ENST00000397461.1	+	10	1420	c.1036A>C	c.(1036-1038)Aca>Cca	p.T346P	CNTN4_ENST00000427331.1_Missense_Mutation_p.T346P|CNTN4_ENST00000418658.1_Missense_Mutation_p.T346P|CNTN4_ENST00000448906.2_Missense_Mutation_p.T18P|CNTN4_ENST00000358480.3_Missense_Mutation_p.T127P|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Missense_Mutation_p.T18P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	346	Ig-like C2-type 4.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GCCTAAGCCTACATACAAGTG	0.373																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1036-1038)Aca>Cca		contactin 4							142.0	116.0	125.0					3																	2942464		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2942464A>C	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1036A>C	3.37:g.2942464A>C	ENSP00000380602:p.Thr346Pro					CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Missense_Mutation_p.T18P|CNTN4_ENST00000358480.3_Missense_Mutation_p.T127P|CNTN4_ENST00000418658.1_Missense_Mutation_p.T346P|CNTN4_ENST00000427331.1_Missense_Mutation_p.T346P|CNTN4_ENST00000448906.2_Missense_Mutation_p.T18P	p.T346P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	10	1420	+		Ovarian(110;0.156)	346			Ig-like C2-type 4.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.1036A>C	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.818295	0.50633	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906;ENST00000473845	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.41	2.88	0.33553	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.071602	0.56097	D	0.000023	T	0.79441	0.4446	M	0.90977	3.165	0.31282	N	0.690426	P;P;B	0.37276	0.589;0.466;0.199	B;P;B	0.49683	0.124;0.619;0.284	T	0.80400	-0.1398	10	0.56958	D	0.05	.	10.2256	0.43222	0.4365:0.0:0.0:0.5635	.	346;346;346	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	P	346;346;346;127;18;18;24	ENSP00000396010:T346P;ENSP00000380602:T346P;ENSP00000413642:T346P;ENSP00000351267:T127P;ENSP00000380600:T18P;ENSP00000392077:T18P;ENSP00000422120:T24P	ENSP00000351267:T127P	T	+	1	0	CNTN4	2917464	0.990000	0.36364	0.995000	0.50966	0.989000	0.77384	2.323000	0.43823	0.372000	0.24591	0.533000	0.62120	ACA		0.373	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			16	15	0	0	0	1	0	16	15				
GDF6	392255	broad.mit.edu	37	8	97157062	97157062	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:97157062A>T	ENST00000287020.5	-	2	1196	c.1097T>A	c.(1096-1098)cTg>cAg	p.L366Q		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	366					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GTCCCAGCCCAGCTCCTTGAA	0.652																																						ENST00000287020.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(1096-1098)cTg>cAg		growth differentiation factor 6							85.0	71.0	76.0					8																	97157062		2203	4300	6503	SO:0001583	missense	392255				activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr8:97157062A>T		CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.1097T>A	8.37:g.97157062A>T	ENSP00000287020:p.Leu366Gln						p.L366Q	NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN			2	1196	-	Breast(36;2.67e-05)		366					Q6PI58	Missense_Mutation	SNP	ENST00000287020.5	37	c.1097T>A	CCDS34926.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.264764	0.80358	.	.	ENSG00000156466	ENST00000287020	D	0.87256	-2.23	4.72	4.72	0.59763	Transforming growth factor-beta, C-terminal (3);	0.000000	0.64402	D	0.000009	D	0.94525	0.8237	M	0.92317	3.295	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.95577	0.8643	10	0.87932	D	0	.	13.3453	0.60569	1.0:0.0:0.0:0.0	.	366	Q6KF10	GDF6_HUMAN	Q	366	ENSP00000287020:L366Q	ENSP00000287020:L366Q	L	-	2	0	GDF6	97226238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.073000	0.93992	1.978000	0.57642	0.455000	0.32223	CTG		0.652	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379862.2	NM_001001557		10	25	0	0	0	1	0	10	25				
SLC28A1	9154	broad.mit.edu	37	15	85478710	85478710	+	Silent	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:85478710G>C	ENST00000286749.3	+	14	1632	c.1542G>C	c.(1540-1542)ggG>ggC	p.G514G	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Silent_p.G514G|SLC28A1_ENST00000394573.1_Silent_p.G514G|SLC28A1_ENST00000537624.1_Silent_p.G514G|RNU6-339P_ENST00000384310.1_RNA			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	514					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GCCTGGCAGGGGCCGAGGAGT	0.612																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1540-1542)ggG>ggC		solute carrier family 28 (concentrative nucleoside transporter), member 1							107.0	102.0	104.0					15																	85478710		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85478710G>C	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1542G>C	15.37:g.85478710G>C						SLC28A1_ENST00000537216.1_Silent_p.G514G|SLC28A1_ENST00000537624.1_Silent_p.G514G|SLC28A1_ENST00000286749.3_Silent_p.G514G|SLC28A1_ENST00000538177.1_Intron	p.G514G	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		15	1744	+			514					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.1542G>C	CCDS10334.1																																																																																				0.612	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			37	74	0	0	0	1	0	37	74				
RNF20	56254	broad.mit.edu	37	9	104302796	104302796	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:104302796C>T	ENST00000389120.3	+	4	412	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	108					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CCGTATCATCCTTAAACGTTA	0.428																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(322-324)Ctt>Ttt		ring finger protein 20, E3 ubiquitin protein ligase							64.0	60.0	61.0					9																	104302796		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104302796C>T	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.322C>T	9.37:g.104302796C>T	ENSP00000373772:p.Leu108Phe						p.L108F	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	4	412	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	108					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.322C>T	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918690	0.52546	.	.	ENSG00000155827	ENST00000389120;ENST00000374819;ENST00000466817	T	0.37058	1.22	5.35	5.35	0.76521	.	0.177387	0.49305	D	0.000153	T	0.34919	0.0914	M	0.62088	1.915	0.48632	D	0.999689	P	0.46512	0.879	B	0.40410	0.328	T	0.26224	-1.0109	10	0.59425	D	0.04	-6.5199	9.4552	0.38750	0.0:0.8411:0.0:0.1589	.	108	Q5VTR2	BRE1A_HUMAN	F	108	ENSP00000373772:L108F	ENSP00000363952:L108F	L	+	1	0	RNF20	103342617	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.319000	0.51983	2.524000	0.85096	0.462000	0.41574	CTT		0.428	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		8	14	0	0	0	1	0	8	14				
PGBD1	84547	broad.mit.edu	37	6	28251692	28251692	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:28251692G>C	ENST00000405948.2	+	2	522	c.102G>C	c.(100-102)gaG>gaC	p.E34D	PGBD1_ENST00000259883.3_Missense_Mutation_p.E34D	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	34						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACTCACAGGAGGGCAGCTCCC	0.577																																						ENST00000405948.2																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(100-102)gaG>gaC		piggyBac transposable element derived 1							90.0	91.0	91.0					6																	28251692		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28251692G>C	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.102G>C	6.37:g.28251692G>C	ENSP00000385213:p.Glu34Asp					PGBD1_ENST00000259883.3_Missense_Mutation_p.E34D	p.E34D	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			2	522	+			34					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.102G>C	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962391	0.34659	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01430	4.9;4.9	4.32	-0.263	0.12954	Speract/scavenger receptor (1);	.	.	.	.	T	0.00384	0.0012	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.40289	-0.9571	9	0.33940	T	0.23	9.3411	5.1166	0.14838	0.2823:0.2703:0.4474:0.0	.	34	Q96JS3	PGBD1_HUMAN	D	34	ENSP00000385213:E34D;ENSP00000259883:E34D	ENSP00000259883:E34D	E	+	3	2	PGBD1	28359671	0.187000	0.23238	0.000000	0.03702	0.120000	0.20174	0.597000	0.24059	-0.072000	0.12864	0.655000	0.94253	GAG		0.577	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			13	49	0	0	0	1	0	13	49				
GPHN	10243	broad.mit.edu	37	14	67589039	67589039	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:67589039G>A	ENST00000315266.5	+	16	2715	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	GPHN_ENST00000543237.1_Missense_Mutation_p.A578T|GPHN_ENST00000478722.1_Missense_Mutation_p.A565T|GPHN_ENST00000305960.9_Missense_Mutation_p.A501T|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	532	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AACTCTTCTAGCAACAATTCA	0.383			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1693-1695)Gca>Aca		gephyrin							122.0	108.0	113.0					14																	67589039		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67589039G>A	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1594G>A	14.37:g.67589039G>A	ENSP00000312771:p.Ala532Thr					GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.A578T|GPHN_ENST00000305960.9_Missense_Mutation_p.A501T|GPHN_ENST00000315266.5_Missense_Mutation_p.A532T	p.A565T	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	17	2814	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	532			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.1693G>A	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033267	0.75504	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	6.17	6.17	0.99709	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.100194	0.64402	D	0.000002	T	0.77994	0.4214	M	0.69463	2.115	0.80722	D	1	B;B;B;B	0.22480	0.007;0.07;0.007;0.038	B;B;B;B	0.26310	0.028;0.068;0.032;0.042	T	0.71596	-0.4545	10	0.13853	T	0.58	-13.9269	20.8794	0.99867	0.0:0.0:1.0:0.0	.	501;578;532;565	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	T	532;565;578;501;57	ENSP00000312771:A532T;ENSP00000417901:A565T;ENSP00000438404:A578T;ENSP00000303019:A501T;ENSP00000452009:A57T	ENSP00000303019:A501T	A	+	1	0	GPHN	66658792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GCA		0.383	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		6	20	0	0	0	1	0	6	20				
RINT1	60561	broad.mit.edu	37	7	105183003	105183003	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:105183003G>T	ENST00000257700.2	+	4	653	c.422G>T	c.(421-423)tGg>tTg	p.W141L	RINT1_ENST00000477285.1_3'UTR	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	141					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCGCAACCTTGGATGGACGAT	0.393																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(421-423)tGg>tTg		RAD50 interactor 1							123.0	114.0	117.0					7																	105183003		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105183003G>T	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.422G>T	7.37:g.105183003G>T	ENSP00000257700:p.Trp141Leu					RINT1_ENST00000477285.1_3'UTR	p.W141L	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			4	653	+			141					Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.422G>T	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	7.344	0.621531	0.14193	.	.	ENSG00000135249	ENST00000257700;ENST00000493041	T	0.20463	2.07	5.16	4.21	0.49690	.	0.122043	0.64402	D	0.000011	T	0.17408	0.0418	L	0.44542	1.39	0.58432	D	0.999992	B	0.06786	0.001	B	0.04013	0.001	T	0.04693	-1.0933	10	0.10902	T	0.67	-6.5544	14.4195	0.67173	0.0:0.0:0.8518:0.1481	.	141	Q6NUQ1	RINT1_HUMAN	L	141;110	ENSP00000257700:W141L	ENSP00000257700:W141L	W	+	2	0	RINT1	104970239	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	5.762000	0.68809	2.380000	0.81148	0.462000	0.41574	TGG		0.393	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		12	27	1	0	1.05317e-09	1	1.45002e-09	12	27				
MYOM1	8736	broad.mit.edu	37	18	3173972	3173972	+	Missense_Mutation	SNP	G	G	T	rs373995718		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:3173972G>T	ENST00000356443.4	-	8	1471	c.1138C>A	c.(1138-1140)Cgc>Agc	p.R380S	MYOM1_ENST00000400569.3_Missense_Mutation_p.R380S|MYOM1_ENST00000261606.7_Missense_Mutation_p.R380S	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	380					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						GCGTGGAAGCGAGTCTCATCA	0.393																																						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.(1138-1140)Cgc>Agc		myomesin 1							84.0	80.0	81.0					18																	3173972		1860	4105	5965	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3173972G>T	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.1138C>A	18.37:g.3173972G>T	ENSP00000348821:p.Arg380Ser					MYOM1_ENST00000261606.7_Missense_Mutation_p.R380S|MYOM1_ENST00000400569.3_Missense_Mutation_p.R380S	p.R380S	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			8	1471	-			380					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.1138C>A	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	3.951	-0.012290	0.07727	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.46063	1.02;1.02;0.88	6.17	3.06	0.35304	.	0.768495	0.12855	N	0.433576	T	0.19406	0.0466	N	0.08118	0	0.23449	N	0.997655	B;B	0.20052	0.041;0.01	B;B	0.21917	0.037;0.024	T	0.31223	-0.9951	10	0.07644	T	0.81	.	7.0205	0.24912	0.2874:0.1205:0.5921:0.0	.	380;380	P52179-2;P52179	.;MYOM1_HUMAN	S	380	ENSP00000348821:R380S;ENSP00000383413:R380S;ENSP00000261606:R380S	ENSP00000261606:R380S	R	-	1	0	MYOM1	3163972	.	.	0.512000	0.27736	0.843000	0.47879	.	.	0.410000	0.25675	0.655000	0.94253	CGC		0.393	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		17	135	1	0	3.52763e-06	1	4.32978e-06	17	135				
MYO15A	51168	broad.mit.edu	37	17	18022216	18022216	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:18022216G>T	ENST00000205890.5	+	2	440	c.102G>T	c.(100-102)tcG>tcT	p.S34S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	34					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGGGACGTCGCGGCTGTTCA	0.627																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(100-102)tcG>tcT		myosin XVA							46.0	62.0	57.0					17																	18022216		1963	4131	6094	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18022216G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.102G>T	17.37:g.18022216G>T							p.S34S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	440	+	all_neural(463;0.228)		34			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.102G>T	CCDS42271.1																																																																																				0.627	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		9	13	1	0	0.000442599	1	0.00049467	9	13				
PCDHA10	56139	broad.mit.edu	37	5	140237560	140237560	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140237560C>T	ENST00000307360.5	+	1	1927	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	643	Cadherin 6. {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)			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)			TGACTCGCCACGCCAGCGCCT	0.657																																						ENST00000307360.5																			0				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.(1927-1929)Cgc>Tgc									28.0	35.0	32.0					5																	140237560		1322	2290	3612	SO:0001583	missense	56139							g.chr5:140237560C>T	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.1927C>T	5.37:g.140237560C>T	ENSP00000304234:p.Arg643Cys					PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.R643C	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	1927	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1927C>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	7.492	0.650772	0.14516	.	.	ENSG00000250120	ENST00000307360	T	0.53206	0.63	3.49	0.144	0.14824	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.70307	0.3209	M	0.91818	3.245	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65140	0.921;0.932	T	0.62148	-0.6915	9	0.87932	D	0	.	11.4808	0.50324	0.5675:0.4325:0.0:0.0	.	643;643	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	C	643	ENSP00000304234:R643C	ENSP00000304234:R643C	R	+	1	0	PCDHA10	140217744	0.000000	0.05858	0.025000	0.17156	0.001000	0.01503	-0.037000	0.12164	0.226000	0.20979	0.491000	0.48974	CGC		0.657	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		18	45	0	0	0	1	0	18	45				
LPAL2	80350	broad.mit.edu	37	6	160908397	160908397	+	RNA	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:160908397G>A	ENST00000335388.5	-	0	575					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CTGACTTTGGGATCCGTTGTA	0.498																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5															79.0	67.0	71.0					6																	160908397		692	1591	2283			80350							g.chr6:160908397G>A	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160908397G>A								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	575	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.498	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		9	31	0	0	0	1	0	9	31				
PAPD7	11044	broad.mit.edu	37	5	6742601	6742601	+	Splice_Site	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:6742601A>T	ENST00000230859.6	+	5	387		c.e5-1			NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7						double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AAATCTTTACAGGTACCAATA	0.428																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.e5-1		PAP associated domain containing 7							55.0	57.0	57.0					5																	6742601		2203	4300	6503	SO:0001630	splice_region_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6742601A>T	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.259-1A>T	5.37:g.6742601A>T								NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			5	387	+								A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Splice_Site	SNP	ENST00000230859.6	37		CCDS3871.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999481	0.74818	.	.	ENSG00000112941	ENST00000230859	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6371	0.62229	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPD7	6795601	1.000000	0.71417	0.834000	0.33040	0.860000	0.49131	8.356000	0.90085	1.959000	0.56917	0.533000	0.62120	.		0.428	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999	Intron	7	19	0	0	0	1	0	7	19				
SYNE1	23345	broad.mit.edu	37	6	152679534	152679534	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:152679534G>T	ENST00000367255.5	-	66	11183	c.10582C>A	c.(10582-10584)Cat>Aat	p.H3528N	SYNE1_ENST00000341594.5_Missense_Mutation_p.H3499N|SYNE1_ENST00000265368.4_Missense_Mutation_p.H3528N|SYNE1_ENST00000423061.1_Missense_Mutation_p.H3535N|SYNE1_ENST00000448038.1_Missense_Mutation_p.H3535N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3528					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTGTCTCATGAGTGTGGGCA	0.403										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10582-10584)Cat>Aat		spectrin repeat containing, nuclear envelope 1							210.0	188.0	196.0					6																	152679534		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152679534G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10582C>A	6.37:g.152679534G>T	ENSP00000356224:p.His3528Asn	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.H3535N|SYNE1_ENST00000265368.4_Missense_Mutation_p.H3528N|SYNE1_ENST00000341594.5_Missense_Mutation_p.H3499N|SYNE1_ENST00000448038.1_Missense_Mutation_p.H3535N	p.H3528N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	66	11183	-		Ovarian(120;0.0955)	3528					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10582C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760606	0.49468	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.50813	0.73;1.37;0.73;1.37;0.73	5.35	5.35	0.76521	.	0.199366	0.35525	N	0.003145	T	0.33818	0.0876	L	0.47716	1.5	0.80722	D	1	P;P;P;P	0.43094	0.698;0.698;0.698;0.799	B;B;B;B	0.39339	0.156;0.156;0.156;0.297	T	0.22347	-1.0219	10	0.45353	T	0.12	.	19.0515	0.93049	0.0:0.0:1.0:0.0	.	3528;3528;3528;3535	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	3528;3535;3528;3535;3499	ENSP00000356224:H3528N;ENSP00000396024:H3535N;ENSP00000265368:H3528N;ENSP00000390975:H3535N;ENSP00000341887:H3499N	ENSP00000265368:H3528N	H	-	1	0	SYNE1	152721227	1.000000	0.71417	0.507000	0.27676	0.902000	0.53008	7.143000	0.77348	2.518000	0.84900	0.561000	0.74099	CAT		0.403	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		13	40	1	0	1.15088e-07	1	1.48956e-07	13	40				
OLFM3	118427	broad.mit.edu	37	1	102270115	102270115	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:102270115G>T	ENST00000338858.5	-	6	1115	c.1116C>A	c.(1114-1116)agC>agA	p.S372R	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000370103.4_Missense_Mutation_p.S352R			Q96PB7	NOE3_HUMAN	olfactomedin 3	372	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGTTAAGTTGGCTGATGACAA	0.488																																						ENST00000370103.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43						c.(1054-1056)agC>agA		olfactomedin 3							101.0	84.0	90.0					1																	102270115		2203	4300	6503	SO:0001583	missense	118427					extracellular region		g.chr1:102270115G>T	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1116C>A	1.37:g.102270115G>T	ENSP00000345192:p.Ser372Arg					OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.S372R	p.S352R	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1269	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	372			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	ENST00000338858.5	37	c.1056C>A		.	.	.	.	.	.	.	.	.	.	G	15.90	2.968409	0.53614	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	D;D	0.92149	-2.98;-2.98	5.67	1.69	0.24217	Olfactomedin-like (3);	0.164317	0.64402	D	0.000002	D	0.95503	0.8539	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;0.99	D;P	0.91635	0.999;0.798	D	0.94757	0.7932	10	0.87932	D	0	.	9.3062	0.37876	0.4158:0.0:0.5842:0.0	.	352;372	Q5T3V6;Q96PB7	.;NOE3_HUMAN	R	352;372	ENSP00000359121:S352R;ENSP00000345192:S372R	ENSP00000345192:S372R	S	-	3	2	OLFM3	102042703	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.362000	0.34148	0.344000	0.23847	0.650000	0.86243	AGC		0.488	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			13	27	1	0	7.03913e-09	1	9.47191e-09	13	27				
SNCAIP	9627	broad.mit.edu	37	5	121759078	121759078	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:121759078C>T	ENST00000261368.8	+	4	908	c.646C>T	c.(646-648)Cct>Tct	p.P216S	SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P263S|SNCAIP_ENST00000503116.2_Missense_Mutation_p.P263S|SNCAIP_ENST00000261367.7_Missense_Mutation_p.P263S|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P216S|SNCAIP_ENST00000414317.2_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	216					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CGTGAAAAGCCCTCACTTGAG	0.483																																						ENST00000261367.7																			0				NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(787-789)Cct>Tct		synuclein, alpha interacting protein							84.0	85.0	85.0					5																	121759078		2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121759078C>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.646C>T	5.37:g.121759078C>T	ENSP00000261368:p.Pro216Ser					SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.P263S|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P263S|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P216S|SNCAIP_ENST00000379536.2_Missense_Mutation_p.P216S	p.P263S			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	6	2215	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	216					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.787C>T	CCDS4131.1	.	.	.	.	.	.	.	.	.	.	C	9.803	1.181149	0.21787	.	.	ENSG00000064692	ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116	T;T;T;T;T;T	0.08634	5.39;3.1;3.07;5.38;3.07;4.84	6.02	5.05	0.67936	.	0.107041	0.64402	D	0.000003	T	0.08980	0.0222	N	0.05124	-0.11	0.80722	D	1	B;B;D;B	0.71674	0.028;0.075;0.998;0.012	B;B;D;B	0.80764	0.014;0.048;0.994;0.007	T	0.36359	-0.9751	9	.	.	.	-18.7494	5.1176	0.14843	0.2113:0.6412:0.0:0.1475	.	216;263;263;216	D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	S	216;216;263;216;263;263	ENSP00000422106:P216S;ENSP00000261368:P216S;ENSP00000368848:P263S;ENSP00000368851:P216S;ENSP00000261367:P263S;ENSP00000423199:P263S	.	P	+	1	0	SNCAIP	121786977	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	1.067000	0.30616	2.865000	0.98341	0.655000	0.94253	CCT		0.483	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			14	45	0	0	0	1	0	14	45				
ZNF180	7733	broad.mit.edu	37	19	44982102	44982102	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:44982102C>A	ENST00000221327.4	-	5	877	c.596G>T	c.(595-597)aGt>aTt	p.S199I	ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Missense_Mutation_p.S172I|ZNF180_ENST00000586637.1_3'UTR|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.S174I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				ATTCAGACCACTCTTCTCCCC	0.383																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(595-597)aGt>aTt		zinc finger protein 180							116.0	112.0	113.0					19																	44982102		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44982102C>A	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.596G>T	19.37:g.44982102C>A	ENSP00000221327:p.Ser199Ile					ZNF180_ENST00000592529.1_Missense_Mutation_p.S172I|ZNF180_ENST00000586637.1_3'UTR|ZNF180_ENST00000391956.4_Missense_Mutation_p.S174I	p.S199I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	877	-		Prostate(69;0.0435)	199					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.596G>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	C	9.440	1.087895	0.20390	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.07444	3.19;3.22	4.48	2.31	0.28768	.	0.959148	0.08566	N	0.926840	T	0.09158	0.0226	L	0.29908	0.895	0.23010	N	0.99843	P;B;B	0.36837	0.571;0.435;0.435	B;B;B	0.43386	0.418;0.239;0.239	T	0.41270	-0.9518	10	0.39692	T	0.17	-0.2921	6.3305	0.21266	0.0:0.7132:0.186:0.1009	.	174;198;199	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	I	199;174	ENSP00000221327:S199I;ENSP00000375818:S174I	ENSP00000221327:S199I	S	-	2	0	ZNF180	49673942	0.000000	0.05858	0.001000	0.08648	0.918000	0.54935	-2.305000	0.01133	0.608000	0.30000	0.655000	0.94253	AGT		0.383	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		8	27	1	0	0.000274275	1	0.000309455	8	27				
ZYG11B	79699	broad.mit.edu	37	1	53237308	53237308	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:53237308G>T	ENST00000294353.6	+	3	958	c.813G>T	c.(811-813)ctG>ctT	p.L271L	ZYG11B_ENST00000443756.2_Silent_p.L271L|ZYG11B_ENST00000545132.1_Silent_p.L271L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	271										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TTGTTTCTCTGGATGTTTCTG	0.403																																						ENST00000294353.6																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.(811-813)ctG>ctT		zyg-11 family member B, cell cycle regulator							86.0	79.0	81.0					1																	53237308		2203	4300	6503	SO:0001819	synonymous_variant	79699						protein binding	g.chr1:53237308G>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.813G>T	1.37:g.53237308G>T						ZYG11B_ENST00000443756.2_Silent_p.L271L|ZYG11B_ENST00000545132.1_Silent_p.L271L	p.L271L	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN			3	958	+			271					Q8N2X3|Q9H8L8	Silent	SNP	ENST00000294353.6	37	c.813G>T	CCDS30717.1																																																																																				0.403	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		11	28	1	0	3.07112e-06	1	3.78904e-06	11	28				
GPR110	266977	broad.mit.edu	37	6	46977481	46977481	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:46977481T>A	ENST00000371253.2	-	11	1905	c.1690A>T	c.(1690-1692)Act>Tct	p.T564S	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.T367S	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	564	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTCAAGTGAGTACATTGGCAC	0.468																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1690-1692)Act>Tct		G protein-coupled receptor 110							147.0	126.0	133.0					6																	46977481		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977481T>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.1690A>T	6.37:g.46977481T>A	ENSP00000360299:p.Thr564Ser					GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.T367S	p.T564S	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			11	1905	-			564			GPS.		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.1690A>T	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	T	6.949	0.544962	0.13312	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000283297	T;T	0.68765	-0.35;-0.35	5.63	4.48	0.54585	GPS domain (3);	0.208391	0.34088	N	0.004264	T	0.21841	0.0526	N	0.13098	0.295	0.24681	N	0.993361	B	0.28419	0.211	B	0.28465	0.09	T	0.11991	-1.0565	10	0.08837	T	0.75	-21.911	7.2309	0.26043	0.0:0.2181:0.0:0.7819	.	564	Q5T601	GP110_HUMAN	S	564;564;367	ENSP00000360299:T564S;ENSP00000283297:T367S	ENSP00000283297:T367S	T	-	1	0	GPR110	47085440	1.000000	0.71417	0.997000	0.53966	0.637000	0.38172	2.522000	0.45572	2.142000	0.66516	0.374000	0.22700	ACT		0.468	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		9	26	0	0	0	1	0	9	26				
FRMD1	79981	broad.mit.edu	37	6	168467434	168467434	+	Splice_Site	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:168467434C>G	ENST00000283309.6	-	4	526		c.e4+1		FRMD1_ENST00000537786.1_Splice_Site|FRMD1_ENST00000440994.2_Splice_Site|FRMD1_ENST00000432403.1_5'Flank	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1							cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CATGCCGTTACCTTATGACCC	0.507																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	ENST00000283309.6																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19						c.e4+1		FERM domain containing 1							85.0	77.0	80.0					6																	168467434		2203	4300	6503	SO:0001630	splice_region_variant	79981					cytoskeleton	binding	g.chr6:168467434C>G		CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.461+1G>C	6.37:g.168467434C>G						FRMD1_ENST00000537786.1_Splice_Site|FRMD1_ENST00000440994.2_Splice_Site		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	4	526	-		Breast(66;1.07e-05)|Ovarian(120;0.0728)						B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Splice_Site	SNP	ENST00000283309.6	37		CCDS5306.1	.	.	.	.	.	.	.	.	.	.	C	8.356	0.832026	0.16820	.	.	ENSG00000153303	ENST00000283309;ENST00000440994	.	.	.	2.93	2.93	0.34026	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0019	0.64437	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRMD1	168210283	1.000000	0.71417	0.214000	0.23707	0.069000	0.16628	5.796000	0.69080	1.479000	0.48272	0.306000	0.20318	.		0.507	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362513.2	NM_024919	Intron	5	20	0	0	0	1	0	5	20				
TAS2R8	50836	broad.mit.edu	37	12	10958928	10958928	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:10958928A>G	ENST00000240615.2	-	1	964	c.652T>C	c.(652-654)Tat>Cat	p.Y218H		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	218					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCGGTAGCATAGAGTTTTATT	0.343																																						ENST00000240615.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(652-654)Tat>Cat		taste receptor, type 2, member 8							88.0	90.0	90.0					12																	10958928		2203	4299	6502	SO:0001583	missense	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10958928A>G	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.652T>C	12.37:g.10958928A>G	ENSP00000240615:p.Tyr218His						p.Y218H	NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN			1	964	-			218					Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	c.652T>C	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	A	4.822	0.152880	0.09185	.	.	ENSG00000121314	ENST00000240615	T	0.00705	5.81	5.38	0.313	0.15842	GPCR, rhodopsin-like superfamily (1);	0.716056	0.11357	N	0.572356	T	0.00384	0.0012	N	0.02403	-0.565	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.40997	-0.9533	10	0.07990	T	0.79	.	5.7191	0.17976	0.312:0.0:0.2224:0.4656	.	218	Q9NYW2	TA2R8_HUMAN	H	218	ENSP00000240615:Y218H	ENSP00000240615:Y218H	Y	-	1	0	TAS2R8	10850195	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.224000	0.09164	-0.158000	0.11040	-0.772000	0.03388	TAT		0.343	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			5	56	0	0	0	1	0	5	56				
GAD2	2572	broad.mit.edu	37	10	26507984	26507984	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:26507984C>G	ENST00000376261.3	+	4	802	c.299C>G	c.(298-300)gCg>gGg	p.A100G	GAD2_ENST00000259271.3_Missense_Mutation_p.A100G|GAD2_ENST00000376248.1_5'UTR	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	100					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.A100V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTGCTGCCGGCGTGTGATGGA	0.358																																						ENST00000376261.3																			1	Substitution - Missense(1)	p.A100V(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(298-300)gCg>gGg		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						82.0	79.0	80.0					10																	26507984		2203	4300	6503	SO:0001583	missense	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26507984C>G	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.299C>G	10.37:g.26507984C>G	ENSP00000365437:p.Ala100Gly					GAD2_ENST00000376248.1_5'UTR|GAD2_ENST00000259271.3_Missense_Mutation_p.A100G	p.A100G	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			4	802	+			100					Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	c.299C>G	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199006	0.38806	.	.	ENSG00000136750	ENST00000376261;ENST00000259271;ENST00000428517	T;T;T	0.59224	0.28;0.28;0.28	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	M	0.73962	2.25	0.80722	D	1	P;B	0.51537	0.946;0.068	B;B	0.42959	0.403;0.02	T	0.62826	-0.6772	10	0.35671	T	0.21	-16.4134	15.4448	0.75220	0.1393:0.8607:0.0:0.0	.	100;100	Q4G154;Q05329	.;DCE2_HUMAN	G	100	ENSP00000365437:A100G;ENSP00000259271:A100G;ENSP00000390434:A100G	ENSP00000259271:A100G	A	+	2	0	GAD2	26547990	1.000000	0.71417	0.632000	0.29296	0.371000	0.29859	5.676000	0.68131	2.683000	0.91414	0.655000	0.94253	GCG		0.358	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		11	19	0	0	0	1	0	11	19				
BOC	91653	broad.mit.edu	37	3	112996988	112996988	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:112996988C>T	ENST00000495514.1	+	10	2290	c.1586C>T	c.(1585-1587)gCc>gTc	p.A529V	BOC_ENST00000497495.1_3'UTR|BOC_ENST00000273395.4_Missense_Mutation_p.A530V|BOC_ENST00000355385.3_Missense_Mutation_p.A529V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	529	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGCATTCCAGCCAACCAGCAC	0.572																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1585-1587)gCc>gTc		BOC cell adhesion associated, oncogene regulated							181.0	174.0	177.0					3																	112996988		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112996988C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1586C>T	3.37:g.112996988C>T	ENSP00000418663:p.Ala529Val					BOC_ENST00000355385.3_Missense_Mutation_p.A529V|BOC_ENST00000273395.4_Missense_Mutation_p.A530V|BOC_ENST00000497495.1_3'UTR	p.A529V			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		10	2290	+			529			Fibronectin type-III 1.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.1586C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603855	0.87157	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.58506	0.33;0.33;0.33	5.8	4.87	0.63330	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.118075	0.56097	D	0.000021	T	0.63954	0.2555	L	0.34521	1.04	0.48901	D	0.999727	D;D	0.76494	0.999;0.999	D;D	0.68039	0.924;0.955	T	0.60276	-0.7295	10	0.34782	T	0.22	.	14.8815	0.70537	0.0:0.7379:0.2621:0.0	.	530;529	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	V	529;530;529	ENSP00000418663:A529V;ENSP00000273395:A530V;ENSP00000347546:A529V	ENSP00000273395:A530V	A	+	2	0	BOC	114479678	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	4.996000	0.63914	2.729000	0.93468	0.563000	0.77884	GCC		0.572	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		52	142	0	0	0	1	0	52	142				
HDAC9	9734	broad.mit.edu	37	7	18633556	18633556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:18633556C>T	ENST00000432645.2	+	5	559	c.559C>T	c.(559-561)Caa>Taa	p.Q187*	HDAC9_ENST00000456174.2_Nonsense_Mutation_p.Q159*|HDAC9_ENST00000524023.1_Nonsense_Mutation_p.Q154*|HDAC9_ENST00000405010.3_Nonsense_Mutation_p.Q187*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.Q190*|HDAC9_ENST00000406451.4_Nonsense_Mutation_p.Q187*|HDAC9_ENST00000428307.2_Nonsense_Mutation_p.Q187*|HDAC9_ENST00000406072.1_Nonsense_Mutation_p.Q218*|HDAC9_ENST00000417496.2_Nonsense_Mutation_p.Q229*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.Q190*	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	187	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCATTGGATCAAAGCTCTCC	0.433																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(559-561)Caa>Taa		histone deacetylase 9	Valproic Acid(DB00313)						203.0	195.0	198.0					7																	18633556		1975	4147	6122	SO:0001587	stop_gained	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18633556C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.559C>T	7.37:g.18633556C>T	ENSP00000410337:p.Gln187*					HDAC9_ENST00000417496.2_Nonsense_Mutation_p.Q229*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.Q190*|HDAC9_ENST00000456174.2_Nonsense_Mutation_p.Q159*|HDAC9_ENST00000405010.3_Nonsense_Mutation_p.Q187*|HDAC9_ENST00000524023.1_Nonsense_Mutation_p.Q154*|HDAC9_ENST00000428307.2_Nonsense_Mutation_p.Q187*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.Q190*|HDAC9_ENST00000406072.1_Nonsense_Mutation_p.Q218*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.Q187*	p.Q187*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			6	709	+	all_lung(11;0.187)		187			Interaction with MAPK10 (By similarity).		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Nonsense_Mutation	SNP	ENST00000432645.2	37	c.559C>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	38	6.916493	0.97932	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.0145	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	229;232;187;187;187;218;190;187;190;159;154;187	.	ENSP00000262069:Q232X	Q	+	1	0	HDAC9	18600081	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CAA		0.433	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			27	67	0	0	0	1	0	27	67				
PCDH15	65217	broad.mit.edu	37	10	55581663	55581663	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:55581663G>T	ENST00000320301.6	-	33	6217	c.5823C>A	c.(5821-5823)gtC>gtA	p.V1941V	PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Silent_p.V1901V|PCDH15_ENST00000361849.3_Silent_p.V1943V|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373957.3_Silent_p.V795V|PCDH15_ENST00000437009.1_Silent_p.V1872V|PCDH15_ENST00000395433.1_Silent_p.V1918V|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V1938V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1941					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGTTCCCTCGACAATATTGT	0.363										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(5827-5829)gtC>gtA		protocadherin-related 15							176.0	159.0	165.0					10																	55581663		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55581663G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5823C>A	10.37:g.55581663G>T		HNSCC(58;0.16)				PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000320301.6_Silent_p.V1941V|PCDH15_ENST00000437009.1_Silent_p.V1872V|PCDH15_ENST00000373957.3_Silent_p.V795V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.V1938V|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Silent_p.V1918V|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Silent_p.V1901V	p.V1943V	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	6223	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1941					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.5829C>A	CCDS7248.1																																																																																				0.363	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		11	25	1	0	0.000673444	1	0.000749147	11	25				
CDH18	1016	broad.mit.edu	37	5	19483503	19483503	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:19483503C>A	ENST00000507958.1	-	14	2779	c.1789G>T	c.(1789-1791)Gtg>Ttg	p.V597L	CDH18_ENST00000382275.1_Missense_Mutation_p.V597L|CDH18_ENST00000506372.1_Silent_p.V561V|CDH18_ENST00000502796.1_Silent_p.V560V|CDH18_ENST00000274170.4_Missense_Mutation_p.V597L			Q13634	CAD18_HUMAN	cadherin 18, type 2	597	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CAGGTCCGCACACGCCCATCT	0.527																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1789-1791)Gtg>Ttg		cadherin 18, type 2							80.0	69.0	73.0					5																	19483503		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19483503C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1789G>T	5.37:g.19483503C>A	ENSP00000425093:p.Val597Leu					CDH18_ENST00000274170.4_Missense_Mutation_p.V597L|CDH18_ENST00000382275.1_Missense_Mutation_p.V597L|CDH18_ENST00000502796.1_Silent_p.V560V|CDH18_ENST00000506372.1_Silent_p.V561V	p.V597L			Q13634	CAD18_HUMAN			14	2779	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		597			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1789G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322053	0.41096	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	T;T;T	0.57595	0.39;0.39;0.39	5.54	5.54	0.83059	Cadherin (1);	0.290799	0.33253	N	0.005110	T	0.35682	0.0940	N	0.20328	0.56	0.36945	D	0.892588	B	0.06786	0.001	B	0.10450	0.005	T	0.32798	-0.9893	9	.	.	.	.	11.5217	0.50555	0.0:0.9176:0.0:0.0824	.	597	Q13634	CAD18_HUMAN	L	597	ENSP00000371710:V597L;ENSP00000425093:V597L;ENSP00000274170:V597L	.	V	-	1	0	CDH18	19519260	0.870000	0.30015	0.997000	0.53966	0.993000	0.82548	1.628000	0.37060	2.615000	0.88500	0.655000	0.94253	GTG		0.527	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		4	17	1	0	0.00909568	1	0.00966543	4	17				
GPA33	10223	broad.mit.edu	37	1	167032958	167032958	+	Silent	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:167032958T>C	ENST00000367868.3	-	4	775	c.432A>G	c.(430-432)ccA>ccG	p.P144P	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	144	Ig-like C2-type.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGCCGCATTCTGGTTTGGAGG	0.577																																						ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(430-432)ccA>ccG		glycoprotein A33 (transmembrane)							142.0	127.0	132.0					1																	167032958		2203	4300	6503	SO:0001819	synonymous_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167032958T>C	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.432A>G	1.37:g.167032958T>C						GPA33_ENST00000527955.1_5'UTR	p.P144P	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			4	775	-			144			Ig-like C2-type.		Q5VZP6	Silent	SNP	ENST00000367868.3	37	c.432A>G	CCDS1258.1																																																																																				0.577	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		17	46	0	0	0	1	0	17	46				
KIAA1211L	343990	broad.mit.edu	37	2	99448810	99448810	+	Splice_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:99448810C>A	ENST00000397899.2	-	5	872		c.e5+1		KIAA1211L_ENST00000462314.1_Splice_Site	NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like																		GCCGCACTTGCCTTTATGGTG	0.622																																						ENST00000397899.2																			0											c.e5+1		KIAA1211-like							65.0	72.0	70.0					2																	99448810		2048	4186	6234	SO:0001630	splice_region_variant	343990							g.chr2:99448810C>A	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.540+1G>T	2.37:g.99448810C>A						KIAA1211L_ENST00000462314.1_Splice_Site		NM_207362.2	NP_997245.2					5	872	-									Splice_Site	SNP	ENST00000397899.2	37		CCDS42720.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.734608	0.48939	.	.	ENSG00000196872	ENST00000397899;ENST00000423771	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2073	0.86921	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C2orf55	98815242	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	4.563000	0.60823	2.524000	0.85096	0.655000	0.94253	.		0.622	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362	Intron	21	50	1	0	7.45023e-12	1	1.08222e-11	21	50				
FAM50B	26240	broad.mit.edu	37	6	3850626	3850626	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:3850626G>T	ENST00000380274.1	+	1	1007	c.581G>T	c.(580-582)gGc>gTc	p.G194V	FAM50B_ENST00000380272.3_Missense_Mutation_p.G194V			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	194						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TACTGGGACGGCTCGGGCCAC	0.662																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(580-582)gGc>gTc		family with sequence similarity 50, member B							45.0	46.0	45.0					6																	3850626		2203	4300	6503	SO:0001583	missense	26240					nucleus		g.chr6:3850626G>T	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.581G>T	6.37:g.3850626G>T	ENSP00000369627:p.Gly194Val					FAM50B_ENST00000380272.3_Missense_Mutation_p.G194V	p.G194V			Q9Y247	FA50B_HUMAN			1	1007	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	194					Q5T2L6	Missense_Mutation	SNP	ENST00000380274.1	37	c.581G>T	CCDS4487.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423640	0.83559	.	.	ENSG00000145945	ENST00000380274;ENST00000380272	.	.	.	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87643	0.2523	9	0.87932	D	0	-50.5638	14.6044	0.68466	0.0:0.0:1.0:0.0	.	194	Q9Y247	FA50B_HUMAN	V	194	.	ENSP00000369625:G194V	G	+	2	0	FAM50B	3795625	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.617000	0.61204	2.383000	0.81215	0.485000	0.47835	GGC		0.662	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		29	76	1	0	1.06801e-11	1	1.54196e-11	29	76				
TYK2	7297	broad.mit.edu	37	19	10463625	10463625	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:10463625C>G	ENST00000525621.1	-	22	3658	c.3177G>C	c.(3175-3177)gaG>gaC	p.E1059D	TYK2_ENST00000264818.6_Missense_Mutation_p.E1059D|TYK2_ENST00000524462.1_Missense_Mutation_p.E874D|TYK2_ENST00000529422.1_Intron	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1059	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGTCCCCATCCTCGCGCACGC	0.652																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3175-3177)gaG>gaC		tyrosine kinase 2							80.0	69.0	73.0					19																	10463625		2203	4300	6503	SO:0001583	missense	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10463625C>G		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3177G>C	19.37:g.10463625C>G	ENSP00000431885:p.Glu1059Asp					TYK2_ENST00000264818.6_Missense_Mutation_p.E1059D|TYK2_ENST00000524462.1_Missense_Mutation_p.E874D|TYK2_ENST00000529422.1_Intron	p.E1059D	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		22	3658	-			1059			Protein kinase 2.		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	c.3177G>C	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266477	0.40095	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.54	3.35	0.38373	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.300348	0.23979	N	0.042686	T	0.70020	0.3176	N	0.25332	0.735	0.47698	D	0.999491	B	0.02656	0.0	B	0.08055	0.003	T	0.62139	-0.6917	10	0.21014	T	0.42	-26.1954	9.9414	0.41583	0.0:0.8231:0.0:0.1769	.	1059	P29597	TYK2_HUMAN	D	874;1059;1059;806;82	ENSP00000433203:E874D;ENSP00000431885:E1059D;ENSP00000264818:E1059D;ENSP00000436155:E82D	ENSP00000264818:E1059D	E	-	3	2	TYK2	10324625	0.783000	0.28701	1.000000	0.80357	0.994000	0.84299	-0.014000	0.12656	1.301000	0.44836	0.555000	0.69702	GAG		0.652	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			29	42	0	0	0	1	0	29	42				
OR5T2	219464	broad.mit.edu	37	11	56000229	56000229	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:56000229T>A	ENST00000313264.4	-	1	508	c.433A>T	c.(433-435)Agt>Tgt	p.S145C		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GTTCCAAAACTACAAGCAAGA	0.408																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(433-435)Agt>Tgt		olfactory receptor, family 5, subfamily T, member 2							166.0	145.0	152.0					11																	56000229		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000229T>A	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.433A>T	11.37:g.56000229T>A	ENSP00000323688:p.Ser145Cys						p.S145C	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	508	-	Esophageal squamous(21;0.00448)		145					B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.433A>T	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	T	7.836	0.720854	0.15372	.	.	ENSG00000181718	ENST00000313264	T	0.01397	4.94	4.54	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.161907	0.28647	U	0.014612	T	0.01800	0.0057	L	0.33293	1	0.09310	N	1	P	0.47106	0.89	P	0.48227	0.571	T	0.47812	-0.9088	10	0.66056	D	0.02	.	2.9617	0.05895	0.281:0.18:0.0:0.539	.	145	Q8NGG2	OR5T2_HUMAN	C	145	ENSP00000323688:S145C	ENSP00000323688:S145C	S	-	1	0	OR5T2	55756805	0.000000	0.05858	0.228000	0.23943	0.062000	0.15995	-0.521000	0.06245	0.889000	0.36185	-0.447000	0.05616	AGT		0.408	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		21	31	0	0	0	1	0	21	31				
SYNJ1	8867	broad.mit.edu	37	21	34066606	34066606	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:34066606C>T	ENST00000322229.7	-	5	720	c.721G>A	c.(721-723)Gac>Aac	p.D241N	SYNJ1_ENST00000357345.3_Missense_Mutation_p.D241N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D241N|SYNJ1_ENST00000382499.2_Missense_Mutation_p.D280N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D280N			O43426	SYNJ1_HUMAN	synaptojanin 1	241	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GAAACTGAGTCATCTAAGTAC	0.313																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(838-840)Gac>Aac		synaptojanin 1							62.0	60.0	61.0					21																	34066606		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34066606C>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.721G>A	21.37:g.34066606C>T	ENSP00000322234:p.Asp241Asn					SYNJ1_ENST00000433931.2_Missense_Mutation_p.D280N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D241N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D241N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D241N	p.D280N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			6	837	-			241			SAC.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.838G>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900650	0.72754	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	5.92	5.92	0.95590	Synaptojanin, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	L	0.52126	1.63	0.80722	D	1	B;B;B;B;B	0.28324	0.01;0.09;0.072;0.204;0.207	B;B;B;B;B	0.33799	0.026;0.122;0.057;0.17;0.063	T	0.48305	-0.9047	10	0.39692	T	0.17	.	20.33	0.98713	0.0:1.0:0.0:0.0	.	241;280;241;241;241	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	N	241;241;280;280;241;241	ENSP00000371931:D241N;ENSP00000349903:D241N;ENSP00000371939:D280N;ENSP00000409667:D280N;ENSP00000322234:D241N;ENSP00000413649:D241N	ENSP00000322234:D241N	D	-	1	0	SYNJ1	32988477	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.414000	0.80117	2.810000	0.96702	0.585000	0.79938	GAC		0.313	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				3	9	0	0	0	1	0	3	9				
NSD1	64324	broad.mit.edu	37	5	176665487	176665487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:176665487G>T	ENST00000439151.2	+	7	4216	c.4171G>T	c.(4171-4173)Gaa>Taa	p.E1391*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1288*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1122*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1122*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1391					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGAGTCTGAGGAATTGCTAGT	0.493			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4171-4173)Gaa>Taa		nuclear receptor binding SET domain protein 1							91.0	92.0	91.0					5																	176665487		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176665487G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4171G>T	5.37:g.176665487G>T	ENSP00000395929:p.Glu1391*	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1288*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1122*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1122*	p.E1391*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	7	4216	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1391					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.4171G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	42	9.214397	0.99103	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.44	5.44	0.79542	.	0.235256	0.32753	N	0.005689	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	14.6356	0.68686	0.0:0.0:1.0:0.0	.	.	.	.	X	1122;1391;1122;1288	.	ENSP00000343209:E1122X	E	+	1	0	NSD1	176598093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.017000	0.64047	2.832000	0.97577	0.655000	0.94253	GAA		0.493	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		27	66	1	0	3.80469e-20	1	6.10551e-20	27	66				
ECE1	1889	broad.mit.edu	37	1	21616667	21616667	+	Intron	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:21616667G>A	ENST00000374893.6	-	2	126				ECE1_ENST00000436918.2_Intron|ECE1_ENST00000264205.6_Silent_p.L9L|ECE1_ENST00000415912.2_Intron	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1						bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCCAAATGCAGCACGGACTCC	0.721																																						ENST00000264205.6																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(25-27)Ctg>Ttg		endothelin converting enzyme 1																																				SO:0001627	intron_variant	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21616667G>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.52-18C>T	1.37:g.21616667G>A						ECE1_ENST00000415912.2_Intron|ECE1_ENST00000436918.2_Intron|ECE1_ENST00000374893.6_Intron	p.L9L	NM_001113349.1	NP_001106820.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	1	83	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	12					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Silent	SNP	ENST00000374893.6	37	c.25C>T	CCDS215.1																																																																																				0.721	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		5	7	0	0	0	1	0	5	7				
QTRT1	81890	broad.mit.edu	37	19	10823233	10823233	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:10823233G>A	ENST00000250237.5	+	7	800	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	264					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CCCCAGCTATGCCACTGATCT	0.627																																						ENST00000250237.5																			0				large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(790-792)Gcc>Acc		queuine tRNA-ribosyltransferase 1							133.0	125.0	128.0					19																	10823233		2203	4300	6503	SO:0001583	missense	81890				queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity	g.chr19:10823233G>A	AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.790G>A	19.37:g.10823233G>A	ENSP00000250237:p.Ala264Thr						p.A264T	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)		7	800	+			264					B4DFM7|Q96BQ4|Q9BXQ9	Missense_Mutation	SNP	ENST00000250237.5	37	c.790G>A	CCDS12248.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820514	0.90873	.	.	ENSG00000213339	ENST00000250237	.	.	.	4.01	4.01	0.46588	.	0.000000	0.64402	U	0.000001	T	0.80352	0.4607	M	0.84846	2.72	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.84453	0.0589	9	0.72032	D	0.01	0.0374	15.0488	0.71850	0.0:0.0:1.0:0.0	.	264	Q9BXR0	TGT_HUMAN	T	264	.	ENSP00000250237:A264T	A	+	1	0	QTRT1	10684233	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.899000	0.75682	2.079000	0.62486	0.462000	0.41574	GCC		0.627	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452086.1	NM_031209		45	69	0	0	0	1	0	45	69				
UBR4	23352	broad.mit.edu	37	1	19526188	19526188	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:19526188A>C	ENST00000375254.3	-	3	362	c.335T>G	c.(334-336)cTc>cGc	p.L112R	UBR4_ENST00000375226.2_Missense_Mutation_p.L112R|UBR4_ENST00000375267.2_Missense_Mutation_p.L112R|UBR4_ENST00000375217.2_Missense_Mutation_p.L112R	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	112					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGACGCAGGAGAGAAAACTC	0.468																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(334-336)cTc>cGc		ubiquitin protein ligase E3 component n-recognin 4							85.0	88.0	87.0					1																	19526188		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19526188A>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.335T>G	1.37:g.19526188A>C	ENSP00000364403:p.Leu112Arg					UBR4_ENST00000375254.3_Missense_Mutation_p.L112R|UBR4_ENST00000375217.2_Missense_Mutation_p.L112R|UBR4_ENST00000375226.2_Missense_Mutation_p.L112R	p.L112R			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	3	338	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	112					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.335T>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857749	0.91433	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.36699	1.26;1.26;1.24;1.24	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	T	0.48241	0.1489	L	0.29908	0.895	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.50955	-0.8766	10	0.87932	D	0	.	14.6451	0.68754	1.0:0.0:0.0:0.0	.	112	Q5T4S7	UBR4_HUMAN	R	112	ENSP00000364403:L112R;ENSP00000364416:L112R;ENSP00000364365:L112R;ENSP00000364374:L112R	ENSP00000364365:L112R	L	-	2	0	UBR4	19398775	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.229000	0.95273	2.188000	0.69820	0.528000	0.53228	CTC		0.468	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		13	22	0	0	0	1	0	13	22				
SCAF4	57466	broad.mit.edu	37	21	33044291	33044291	+	Silent	SNP	C	C	T	rs373796708	byFrequency	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:33044291C>T	ENST00000286835.7	-	20	3247	c.2865G>A	c.(2863-2865)gcG>gcA	p.A955A	SCAF4_ENST00000399804.1_Silent_p.A933A|SCAF4_ENST00000434667.3_Silent_p.A940A	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	955						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						gttgctggggcgcctgcggct	0.652													C|||	3	0.000599042	0.0	0.0	5008	,	,		12575	0.003		0.0	False		,,,				2504	0.0					ENST00000286835.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(2863-2865)gcG>gcA		SR-related CTD-associated factor 4		C	,,	1,4399		0,1,2199	40.0	46.0	44.0		2820,2799,2865	2.8	0.8	21		44	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	SCAF4	NM_001145444.1,NM_001145445.1,NM_020706.2	,,	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,,	940/1133,933/1126,955/1148	33044291	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33044291C>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.2865G>A	21.37:g.33044291C>T						SCAF4_ENST00000399804.1_Silent_p.A933A|SCAF4_ENST00000434667.3_Silent_p.A940A	p.A955A	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN			20	3247	-			955					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Silent	SNP	ENST00000286835.7	37	c.2865G>A	CCDS33537.1																																																																																				0.652	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		39	81	0	0	0	1	0	39	81				
ADAMTS20	80070	broad.mit.edu	37	12	43769917	43769917	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:43769917T>C	ENST00000389420.3	-	35	5254	c.5255A>G	c.(5254-5256)aAg>aGg	p.K1752R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1752	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAAATATTCCTTAGGGTTCTC	0.328																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5254-5256)aAg>aGg		ADAM metallopeptidase with thrombospondin type 1 motif, 20							83.0	77.0	79.0					12																	43769917		2200	4299	6499	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43769917T>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.5255A>G	12.37:g.43769917T>C	ENSP00000374071:p.Lys1752Arg						p.K1752R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	35	5254	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1752			GON.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.5255A>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	11.02	1.517260	0.27123	.	.	ENSG00000173157	ENST00000389420	T	0.18502	2.21	4.62	-0.978	0.10279	Peptidase M12B, GON-ADAMTSs (2);	0.286234	0.25014	N	0.033817	T	0.12944	0.0314	L	0.35793	1.09	0.80722	D	1	B	0.22541	0.071	B	0.33690	0.168	T	0.09058	-1.0692	10	0.45353	T	0.12	.	5.7651	0.18221	0.0:0.1482:0.2635:0.5883	.	1752	P59510	ATS20_HUMAN	R	1752	ENSP00000374071:K1752R	ENSP00000374071:K1752R	K	-	2	0	ADAMTS20	42056184	1.000000	0.71417	0.898000	0.35279	0.627000	0.37826	1.109000	0.31135	-0.241000	0.09681	-0.323000	0.08544	AAG		0.328	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		2	3	0	0	0	1	0	2	3				
KIAA1024	23251	broad.mit.edu	37	15	79750711	79750711	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:79750711G>T	ENST00000305428.3	+	2	2297	c.2222G>T	c.(2221-2223)cGt>cTt	p.R741L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	741						integral component of membrane (GO:0016021)		p.R741L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TATACCAACCGTGTGGGCCTC	0.463																																						ENST00000305428.3																			1	Substitution - Missense(1)	p.R741L(1)	lung(1)	central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(2221-2223)cGt>cTt		KIAA1024							65.0	66.0	65.0					15																	79750711		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750711G>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2222G>T	15.37:g.79750711G>T	ENSP00000307461:p.Arg741Leu						p.R741L	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	2297	+			741					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2222G>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199467	0.38806	.	.	ENSG00000169330	ENST00000305428	T	0.32515	1.45	5.54	3.11	0.35812	.	0.481828	0.22957	N	0.053594	T	0.21022	0.0506	L	0.44542	1.39	0.18873	N	0.999983	B	0.28055	0.199	B	0.26693	0.072	T	0.11817	-1.0572	9	.	.	.	.	4.632	0.12506	0.5798:0.0:0.4202:0.0	.	741	Q9UPX6	K1024_HUMAN	L	741	ENSP00000307461:R741L	.	R	+	2	0	KIAA1024	77537766	1.000000	0.71417	0.099000	0.21106	0.030000	0.12068	6.354000	0.73036	1.087000	0.41251	0.655000	0.94253	CGT		0.463	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		13	26	1	0	1.49906e-05	1	1.78908e-05	13	26				
PTPRB	5787	broad.mit.edu	37	12	71016240	71016240	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:71016240T>C	ENST00000550358.1	-	3	663	c.638A>G	c.(637-639)cAc>cGc	p.H213R	PTPRB_ENST00000551525.1_Missense_Mutation_p.H212R|PTPRB_ENST00000334414.6_Missense_Mutation_p.H213R|PTPRB_ENST00000538174.2_5'UTR			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCAGTCATGTGCAGATTGGG	0.498																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(637-639)cAc>cGc		protein tyrosine phosphatase, receptor type, B							150.0	164.0	159.0					12																	71016240		2046	4198	6244	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71016240T>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.638A>G	12.37:g.71016240T>C	ENSP00000448058:p.His213Arg					PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Missense_Mutation_p.H213R|PTPRB_ENST00000551525.1_Missense_Mutation_p.H212R	p.H213R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		3	682	-	Renal(347;0.236)		0			Fibronectin type-III 3.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000550358.1	37	c.638A>G		.	.	.	.	.	.	.	.	.	.	T	11.47	1.648719	0.29336	.	.	ENSG00000127329	ENST00000334414;ENST00000550358;ENST00000544694;ENST00000551525;ENST00000548122	T;T;T;T	0.04194	4.2;4.18;3.68;3.78	5.41	0.132	0.14762	.	.	.	.	.	T	0.03827	0.0108	L	0.36672	1.1	0.09310	N	0.999999	B;B;B;B;B	0.26400	0.0;0.001;0.024;0.0;0.148	B;B;B;B;B	0.24394	0.0;0.001;0.037;0.001;0.053	T	0.46911	-0.9157	9	0.21014	T	0.42	.	5.9328	0.19148	0.0:0.1156:0.2702:0.6143	.	92;213;212;213;213	Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;F8VU56	.;.;.;.;.	R	213;213;213;212;92	ENSP00000334928:H213R;ENSP00000448058:H213R;ENSP00000448349:H212R;ENSP00000446982:H92R	ENSP00000334928:H213R	H	-	2	0	PTPRB	69302507	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-0.231000	0.09069	-0.212000	0.10109	0.533000	0.62120	CAC		0.498	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404436.1			11	25	0	0	0	1	0	11	25				
GOSR1	9527	broad.mit.edu	37	17	28849322	28849322	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:28849322C>T	ENST00000225724.5	+	9	751	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	GOSR1_ENST00000581721.1_Missense_Mutation_p.R213W|GOSR1_ENST00000467337.2_Missense_Mutation_p.R162W|GOSR1_ENST00000451249.2_Missense_Mutation_p.R225W	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	227					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CCTGAGGAAGCGGCGGGACTC	0.488																																						ENST00000225724.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						c.(679-681)Cgg>Tgg		golgi SNAP receptor complex member 1							252.0	270.0	264.0					17																	28849322		2203	4300	6503	SO:0001583	missense	9527				intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity	g.chr17:28849322C>T	AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.679C>T	17.37:g.28849322C>T	ENSP00000225724:p.Arg227Trp					GOSR1_ENST00000581721.1_Missense_Mutation_p.R213W|GOSR1_ENST00000467337.2_Missense_Mutation_p.R162W|GOSR1_ENST00000451249.2_Missense_Mutation_p.R225W	p.R227W	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN			9	751	+			227					J3KST5|O75392	Missense_Mutation	SNP	ENST00000225724.5	37	c.679C>T	CCDS11258.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359788	0.82353	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000414833	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.86108	0.5854	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.87698	0.2558	9	0.87932	D	0	-10.8833	19.583	0.95478	0.0:1.0:0.0:0.0	.	227;225	O95249;E9PCW1	GOSR1_HUMAN;.	W	227;225;162	.	ENSP00000225724:R227W	R	+	1	2	GOSR1	25873448	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.774000	0.47694	2.873000	0.98535	0.563000	0.77884	CGG		0.488	GOSR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256208.2			71	145	0	0	0	1	0	71	145				
OR6K3	391114	broad.mit.edu	37	1	158687612	158687612	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:158687612G>T	ENST00000368146.1	-	1	341	c.342C>A	c.(340-342)atC>atA	p.I114I	OR6K3_ENST00000368145.1_Silent_p.I98I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ACATCTGCAAGATGCAGCCAG	0.478																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(340-342)atC>atA		olfactory receptor, family 6, subfamily K, member 3							136.0	139.0	138.0					1																	158687612		2203	4300	6503	SO:0001819	synonymous_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687612G>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.342C>A	1.37:g.158687612G>T						OR6K3_ENST00000368145.1_Silent_p.I98I	p.I114I			Q8NGY3	OR6K3_HUMAN			1	341	-	all_hematologic(112;0.0378)		114					Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.342C>A																																																																																					0.478	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				34	60	1	0	2.08457e-15	1	3.1941e-15	34	60				
TSPAN10	83882	broad.mit.edu	37	17	79609410	79609410	+	RNA	SNP	G	G	T	rs7406219	byFrequency	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:79609410G>T	ENST00000572675.1	+	0	0				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGGCGCCTGTGCTGGGGGCTT	0.657													G|||	2927	0.584465	0.6415	0.6023	5008	,	,		15072	0.7798		0.2853	False		,,,				2504	0.6012					ENST00000328585.4																			0				ovary(1)	1								tetraspanin 10		G		2364,1746		695,974,386	47.0	57.0	53.0			0.2	0.0	17	dbSNP_116	53	2906,5514		513,1880,1817	no	utr-5	TSPAN10	NM_031945.3		1208,2854,2203	TT,TG,GG		34.5131,42.4818,42.0591			79609410	5270,7260	2055	4210	6265			83882					integral to membrane		g.chr17:79609410G>T	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79609410G>T								NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		0	62	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)							Q8N548	RNA	SNP	ENST00000572675.1	37																																																																																						0.657	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		5	63	1	0	0.248553	1	0.251732	5	63				
SLC35F3	148641	broad.mit.edu	37	1	234041452	234041452	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:234041452C>A	ENST00000366618.3	+	2	376	c.231C>A	c.(229-231)atC>atA	p.I77I		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGGAGCGGATCCTGCGCATCA	0.592																																						ENST00000366618.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32						c.(229-231)atC>atA		solute carrier family 35, member F3							65.0	61.0	62.0					1																	234041452		2203	4300	6503	SO:0001819	synonymous_variant	148641				transport	integral to membrane		g.chr1:234041452C>A		CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366618.3:c.231C>A	1.37:g.234041452C>A							p.I77I	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00531)		2	376	+	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	0					Q5TDD6|Q8N9C9	Silent	SNP	ENST00000366618.3	37	c.231C>A	CCDS1600.1																																																																																				0.592	SLC35F3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092579.2	NM_173508		31	56	1	0	3.67414e-24	1	5.97677e-24	31	56				
ACTC1	70	broad.mit.edu	37	15	35085545	35085545	+	Missense_Mutation	SNP	C	C	T	rs397517060		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:35085545C>T	ENST00000290378.4	-	3	1010	c.355G>A	c.(355-357)Gag>Aag	p.E119K	ACTC1_ENST00000557860.1_5'Flank|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	119					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTCATCTTCTCCCGGTTGGCC	0.582																																						ENST00000290378.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(355-357)Gag>Aag		actin, alpha, cardiac muscle 1							99.0	97.0	98.0					15																	35085545		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35085545C>T	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.355G>A	15.37:g.35085545C>T	ENSP00000290378:p.Glu119Lys					RP11-814P5.1_ENST00000503496.1_RNA	p.E119K	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	3	1010	-		all_lung(180;2.3e-08)	119					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.355G>A	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753896	0.89843	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.97811	-4.55	5.63	5.63	0.86233	.	0.000000	0.52532	U	0.000067	D	0.99287	0.9751	H	0.94385	3.53	0.80722	D	1	P	0.36392	0.551	D	0.65684	0.937	D	0.98059	1.0392	10	0.87932	D	0	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	119	P68032	ACTC_HUMAN	K	119;84	ENSP00000290378:E119K	ENSP00000290378:E119K	E	-	1	0	ACTC1	32872837	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	GAG		0.582	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	NM_005159		36	49	0	0	0	1	0	36	49				
PYGO1	26108	broad.mit.edu	37	15	55839092	55839092	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:55839092G>T	ENST00000302000.6	-	3	483	c.389C>A	c.(388-390)cCa>cAa	p.P130Q	PYGO1_ENST00000563719.1_Missense_Mutation_p.P130Q	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	130	Pro-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CTGAGGAAATGGGTGTGGCTG	0.448																																						ENST00000302000.6																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.(388-390)cCa>cAa		pygopus family PHD finger 1							89.0	83.0	85.0					15																	55839092		2193	4292	6485	SO:0001583	missense	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55839092G>T	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.389C>A	15.37:g.55839092G>T	ENSP00000302327:p.Pro130Gln					PYGO1_ENST00000563719.1_Missense_Mutation_p.P130Q	p.P130Q	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	483	-			130			Pro-rich.		A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	c.389C>A	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	G	9.206	1.029690	0.19512	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.50001	0.76	5.09	4.1	0.47936	.	0.342835	0.28577	N	0.014857	T	0.31451	0.0797	N	0.17082	0.46	0.35266	D	0.780003	B;B	0.17465	0.022;0.022	B;B	0.12837	0.008;0.005	T	0.38067	-0.9678	10	0.49607	T	0.09	-8.954	11.9059	0.52713	0.0:0.0:0.7032:0.2968	.	130;130	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	Q	130	ENSP00000302327:P130Q	ENSP00000302327:P130Q	P	-	2	0	PYGO1	53626384	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.988000	0.56951	2.513000	0.84729	0.585000	0.79938	CCA		0.448	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617		16	39	1	0	3.45872e-05	1	4.08679e-05	16	39				
GLG1	2734	broad.mit.edu	37	16	74524900	74524900	+	Splice_Site	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:74524900G>T	ENST00000422840.2	-	8	1447	c.1448C>A	c.(1447-1449)gCg>gAg	p.A483E	GLG1_ENST00000205061.5_Splice_Site_p.A483E|GLG1_ENST00000447066.2_Splice_Site_p.A472E	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	483					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTCCTTACCGCCTGCTGGCA	0.478																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.e8+1		golgi glycoprotein 1							104.0	94.0	97.0					16																	74524900		2198	4300	6498	SO:0001630	splice_region_variant	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74524900G>T		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1449+1C>A	16.37:g.74524900G>T						GLG1_ENST00000447066.2_Splice_Site_p.A472_splice|GLG1_ENST00000205061.5_Splice_Site_p.A483_splice	p.A483_splice	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			8	1447	-			483					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Splice_Site	SNP	ENST00000422840.2	37	c.1449_splice	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349594	0.95830	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.74397	0.3711	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.993;0.994;0.992	T	0.72947	-0.4137	9	0.45353	T	0.12	-6.3901	19.6435	0.95767	0.0:0.0:1.0:0.0	.	483;483;472	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	E	483;472;483	.	ENSP00000205061:A483E	A	-	2	0	GLG1	73082401	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.605000	0.98321	2.638000	0.89438	0.655000	0.94253	GCG		0.478	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	Missense_Mutation	16	21	1	0	3.32936e-07	1	4.22846e-07	16	21				
KIAA2022	340533	broad.mit.edu	37	X	73962345	73962345	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:73962345G>T	ENST00000055682.6	-	3	2658	c.2047C>A	c.(2047-2049)Cct>Act	p.P683T		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	683					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCACAGCTAGGAGCACCCAGA	0.438																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(2047-2049)Cct>Act		KIAA2022							86.0	72.0	77.0					X																	73962345		2202	4300	6502	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962345G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2047C>A	X.37:g.73962345G>T	ENSP00000055682:p.Pro683Thr					KIAA2022_ENST00000055682.5_Missense_Mutation_p.P683T	p.P683T			Q5QGS0	K2022_HUMAN			3	2698	-			683					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.2047C>A	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	7.454	0.643215	0.14451	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.35789	1.29;1.29	5.73	-2.83	0.05769	.	0.525805	0.22513	N	0.059063	T	0.17789	0.0427	L	0.38531	1.155	0.23975	N	0.996299	B	0.06786	0.001	B	0.12156	0.007	T	0.16571	-1.0398	10	0.16420	T	0.52	-0.171	1.641	0.02752	0.3565:0.1005:0.337:0.206	.	683	Q5QGS0	K2022_HUMAN	T	683	ENSP00000362567:P683T;ENSP00000055682:P683T	ENSP00000055682:P683T	P	-	1	0	KIAA2022	73879070	1.000000	0.71417	0.000000	0.03702	0.796000	0.44982	0.907000	0.28531	-0.617000	0.05664	0.600000	0.82982	CCT		0.438	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		8	7	1	0	5.18039e-06	1	6.29331e-06	8	7				
CNTN3	5067	broad.mit.edu	37	3	74350822	74350822	+	Missense_Mutation	SNP	C	C	A	rs187249178		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:74350822C>A	ENST00000263665.6	-	14	1948	c.1921G>T	c.(1921-1923)Gtg>Ttg	p.V641L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	641	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V641L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGCCAACCCACGGAGAAAGGT	0.448																																						ENST00000263665.6																			1	Substitution - Missense(1)	p.V641L(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1921-1923)Gtg>Ttg		contactin 3 (plasmacytoma associated)							162.0	151.0	155.0					3																	74350822		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74350822C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1921G>T	3.37:g.74350822C>A	ENSP00000263665:p.Val641Leu						p.V641L	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	14	1948	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	641			Fibronectin type-III 1.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1921G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744670	0.30865	.	.	ENSG00000113805	ENST00000263665	T	0.56776	0.44	5.98	5.98	0.97165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	N	0.11724	0.165	0.42077	D	0.991231	B	0.06786	0.001	B	0.16722	0.016	T	0.14839	-1.0458	10	0.27785	T	0.31	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	641	Q9P232	CNTN3_HUMAN	L	641	ENSP00000263665:V641L	ENSP00000263665:V641L	V	-	1	0	CNTN3	74433512	0.631000	0.27164	1.000000	0.80357	0.992000	0.81027	1.286000	0.33273	2.837000	0.97791	0.591000	0.81541	GTG		0.448	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		11	20	1	0	1.58986e-06	1	1.98733e-06	11	20				
SNX14	57231	broad.mit.edu	37	6	86257088	86257088	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:86257088G>C	ENST00000314673.3	-	11	1116	c.940C>G	c.(940-942)Cct>Gct	p.P314A	SNX14_ENST00000346348.3_Missense_Mutation_p.P270A|SNX14_ENST00000513865.1_Missense_Mutation_p.P314A|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.P262A|SNX14_ENST00000369627.2_Missense_Mutation_p.P314A	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	314					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GGAACCAAAGGAGAAGCCGGT	0.318																																						ENST00000314673.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22						c.(940-942)Cct>Gct		sorting nexin 14							49.0	53.0	51.0					6																	86257088		2201	4298	6499	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86257088G>C	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.940C>G	6.37:g.86257088G>C	ENSP00000313121:p.Pro314Ala					SNX14_ENST00000369627.2_Missense_Mutation_p.P314A|SNX14_ENST00000505648.1_Missense_Mutation_p.P262A|SNX14_ENST00000513865.1_Missense_Mutation_p.P314A|SNX14_ENST00000346348.3_Missense_Mutation_p.P270A|SNX14_ENST00000508980.1_5'UTR	p.P314A	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	11	1116	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	314					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.940C>G	CCDS5004.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469562	0.26423	.	.	ENSG00000135317	ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	T;T;T;T;T;T	0.31247	1.89;1.87;1.5;1.88;1.87;1.89	5.39	3.27	0.37495	.	0.431529	0.26387	N	0.024671	T	0.04227	0.0117	N	0.19112	0.55	0.20703	N	0.999866	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.0;0.002	T	0.35624	-0.9781	10	0.10902	T	0.67	-12.9042	1.8897	0.03245	0.2211:0.1547:0.4656:0.1586	.	314;270;314;262	Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.;.;SNX14_HUMAN;.	A	270;314;314;262;314;241	ENSP00000257769:P270A;ENSP00000313121:P314A;ENSP00000420938:P314A;ENSP00000427380:P262A;ENSP00000358641:P314A;ENSP00000425630:P241A	ENSP00000313121:P314A	P	-	1	0	SNX14	86313807	0.065000	0.20965	1.000000	0.80357	0.997000	0.91878	0.343000	0.19944	1.279000	0.44446	0.655000	0.94253	CCT		0.318	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		3	7	0	0	0	1	0	3	7				
ACTR1B	10120	broad.mit.edu	37	2	98274980	98274980	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:98274980G>A	ENST00000289228.5	-	6	783	c.567C>T	c.(565-567)gaC>gaT	p.D189D		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	189					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						AGCGGGAGACGTCGCGGCCGG	0.587																																						ENST00000289228.5																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						c.(565-567)gaC>gaT		ARP1 actin-related protein 1 homolog B, centractin beta (yeast)							121.0	111.0	115.0					2																	98274980		2203	4300	6503	SO:0001819	synonymous_variant	10120					centrosome|dynactin complex	ATP binding|protein binding	g.chr2:98274980G>A	X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.567C>T	2.37:g.98274980G>A							p.D189D	NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN			6	783	-			189					D3DVH2|Q53SK5|Q9BRB7	Silent	SNP	ENST00000289228.5	37	c.567C>T	CCDS2033.1																																																																																				0.587	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252973.1	NM_005735		18	36	0	0	0	1	0	18	36				
PLEKHM3	389072	broad.mit.edu	37	2	208795678	208795678	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:208795678C>A	ENST00000427836.2	-	5	2347	c.1858G>T	c.(1858-1860)Gca>Tca	p.A620S	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A620S|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.A620S	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	620					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCACCGCTGCCCGGCAGCTG	0.617																																						ENST00000457206.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1858-1860)Gca>Tca		pleckstrin homology domain containing, family M, member 3							43.0	50.0	48.0					2																	208795678		1947	4146	6093	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208795678C>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1858G>T	2.37:g.208795678C>A	ENSP00000417003:p.Ala620Ser					PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A620S|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A620S	p.A620S			Q6ZWE6	PKHM3_HUMAN			5	2285	-			620					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.1858G>T	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.87|11.87	1.767953|1.767953	0.31320|0.31320	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206|ENST00000447645	D;D;D|.	0.82803|.	-1.64;-1.63;-1.65|.	5.79|5.79	4.92|4.92	0.64577|0.64577	.|.	0.105526|.	0.64402|.	D|.	0.000006|.	T|T	0.49592|0.49592	0.1566|0.1566	N|N	0.17674|0.17674	0.51|0.51	0.54753|0.54753	D|D	0.999987|0.999987	D;B|.	0.53312|.	0.959;0.117|.	P;B|.	0.55508|.	0.777;0.079|.	T|T	0.44112|0.44112	-0.9349|-0.9349	10|5	0.07325|.	T|.	0.83|.	.|.	14.7073|14.7073	0.69200|0.69200	0.0:0.9305:0.0:0.0695|0.0:0.9305:0.0:0.0695	.|.	620;620|.	C9J119;Q6ZWE6|.	.;PKHM3_HUMAN|.	S|V	620|371	ENSP00000417003:A620S;ENSP00000373899:A620S;ENSP00000400150:A620S|.	ENSP00000373899:A620S|.	A|G	-|-	1|2	0|0	PLEKHM3|PLEKHM3	208503923|208503923	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.093000|0.093000	0.18481|0.18481	4.760000|4.760000	0.62235|0.62235	1.459000|1.459000	0.47892|0.47892	0.460000|0.460000	0.39030|0.39030	GCA|GGC		0.617	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		28	98	1	0	1.17739e-12	1	1.74225e-12	28	98				
SLC6A5	9152	broad.mit.edu	37	11	20648340	20648340	+	Silent	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:20648340G>C	ENST00000525748.1	+	8	1620	c.1347G>C	c.(1345-1347)ggG>ggC	p.G449G		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	449					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTGGAGCTGGGATCTGGTACT	0.557																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(1345-1347)ggG>ggC		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						130.0	120.0	124.0					11																	20648340		2203	4300	6503	SO:0001819	synonymous_variant	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20648340G>C	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.1347G>C	11.37:g.20648340G>C							p.G449G	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			8	1620	+			449					O95288|Q4VAM7|Q9BX77	Silent	SNP	ENST00000525748.1	37	c.1347G>C	CCDS7854.1																																																																																				0.557	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		12	42	0	0	0	1	0	12	42				
SALL1	6299	broad.mit.edu	37	16	51175392	51175392	+	Silent	SNP	G	G	A	rs372297077		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:51175392G>A	ENST00000251020.4	-	2	774	c.741C>T	c.(739-741)atC>atT	p.I247I	SALL1_ENST00000440970.1_Silent_p.I150I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	247					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I247I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAATCTGTTCGATCAATTGCA	0.542																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - coding silent(1)	p.I247I(1)	large_intestine(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(448-450)atC>atT		spalt-like transcription factor 1		G	,	1,4395	2.1+/-5.4	0,1,2197	83.0	86.0	85.0		450,741	1.9	1.0	16		85	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SALL1	NM_001127892.1,NM_002968.2	,	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	,	150/1228,247/1325	51175392	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175392G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.741C>T	16.37:g.51175392G>A						SALL1_ENST00000251020.4_Silent_p.I247I|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	p.I150I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	881	-		all_cancers(37;0.0322)	247		Missing.|S -> SS.	Poly-Ser.		Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.450C>T	CCDS10747.1																																																																																				0.542	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		20	44	0	0	0	1	0	20	44				
MYBL1	4603	broad.mit.edu	37	8	67514665	67514665	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:67514665C>A	ENST00000522677.3	-	2	524	c.114G>T	c.(112-114)tgG>tgT	p.W38C	MYBL1_ENST00000517885.1_Missense_Mutation_p.W38C|MYBL1_ENST00000524176.2_Missense_Mutation_p.W38C	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	38	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CGTCCCTTGTCCATTTTACTC	0.398																																						ENST00000522677.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25						c.(112-114)tgG>tgT		v-myb avian myeloblastosis viral oncogene homolog-like 1							179.0	168.0	171.0					8																	67514665		1860	4099	5959	SO:0001583	missense	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67514665C>A	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.114G>T	8.37:g.67514665C>A	ENSP00000429633:p.Trp38Cys					MYBL1_ENST00000517885.1_Missense_Mutation_p.W38C|MYBL1_ENST00000524176.2_Missense_Mutation_p.W38C	p.W38C	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		2	524	-			38			HTH myb-type 1.		E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	c.114G>T	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290794	0.80914	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.61510	0.89;0.1;0.41	5.55	5.55	0.83447	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.88040	0.6330	H	0.99626	4.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.93406	0.6764	10	0.87932	D	0	-3.3394	19.4888	0.95042	0.0:1.0:0.0:0.0	.	38;38;38	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	C	38	ENSP00000429633:W38C;ENSP00000428265:W38C;ENSP00000428011:W38C	ENSP00000428265:W38C	W	-	3	0	MYBL1	67677219	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.915000	0.75770	2.579000	0.87056	0.655000	0.94253	TGG		0.398	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		9	16	1	0	5.4927e-09	1	7.43315e-09	9	16				
AXIN1	8312	broad.mit.edu	37	16	364684	364684	+	Splice_Site	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:364684C>T	ENST00000262320.3	-	3	1250		c.e3-1		AXIN1_ENST00000481769.1_Splice_Site|AXIN1_ENST00000354866.3_Splice_Site	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1						activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGATCCATACCTGCAAACAGG	0.498																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.e3-1		axin 1							45.0	44.0	45.0					16																	364684		2203	4300	6503	SO:0001630	splice_region_variant	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:364684C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.879-1G>A	16.37:g.364684C>T						AXIN1_ENST00000481769.1_Splice_Site|AXIN1_ENST00000354866.3_Splice_Site		NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			3	1250	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)						Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Splice_Site	SNP	ENST00000262320.3	37		CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616414	0.28801	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	.	.	.	5.32	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1059	0.65088	0.0:0.9268:0.0:0.0732	.	.	.	.	.	-1	.	.	.	-	.	.	AXIN1	304685	1.000000	0.71417	0.851000	0.33527	0.569000	0.35902	7.054000	0.76649	1.236000	0.43740	0.491000	0.48974	.		0.498	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		Intron	25	12	0	0	0	1	0	25	12				
SPATA31D5P	347127	broad.mit.edu	37	9	84532341	84532341	+	RNA	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:84532341G>T	ENST00000527857.1	+	0	2363					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		GAATTATCAGGGATACAGCCA	0.473																																						ENST00000527857.1																			0																																																			347127							g.chr9:84532341G>T			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532341G>T								NR_026851.1						0	2363	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.473	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		14	26	1	0	7.93312e-07	1	9.99531e-07	14	26				
ATP13A4	84239	broad.mit.edu	37	3	193185178	193185178	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:193185178G>T	ENST00000342695.4	-	10	1363	c.1041C>A	c.(1039-1041)ctC>ctA	p.L347L	ATP13A4_ENST00000295548.3_Silent_p.L347L|ATP13A4_ENST00000392443.3_Silent_p.L347L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	347						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTCCACAGAAGAGGACATGCC	0.502																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(1039-1041)ctC>ctA		ATPase type 13A4							117.0	107.0	110.0					3																	193185178		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193185178G>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1041C>A	3.37:g.193185178G>T						ATP13A4_ENST00000295548.3_Silent_p.L347L|ATP13A4_ENST00000392443.3_Silent_p.L347L	p.L347L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	10	1363	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		347					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.1041C>A	CCDS3304.2																																																																																				0.502	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		24	37	1	0	5.35356e-11	1	7.63646e-11	24	37				
IFT140	9742	broad.mit.edu	37	16	1633322	1633322	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:1633322C>T	ENST00000426508.2	-	12	1788	c.1425G>A	c.(1423-1425)cgG>cgA	p.R475R	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	475					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CACCTGCACTCCGTATCGCGG	0.577																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(1423-1425)cgG>cgA		intraflagellar transport 140 homolog (Chlamydomonas)							84.0	67.0	73.0					16																	1633322		2199	4300	6499	SO:0001819	synonymous_variant	9742							g.chr16:1633322C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1425G>A	16.37:g.1633322C>T						LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.R475R	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			12	1788	-		Hepatocellular(780;0.219)	475					A2A2A8|D3DU75|O60332|Q9UG52	Silent	SNP	ENST00000426508.2	37	c.1425G>A	CCDS10439.1																																																																																				0.577	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		16	47	0	0	0	1	0	16	47				
BRWD1	54014	broad.mit.edu	37	21	40558961	40558961	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:40558961A>G	ENST00000333229.2	-	42	7281	c.6954T>C	c.(6952-6954)aaT>aaC	p.N2318N	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2318					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTATTGTGCATTTTCTTTCC	0.353																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000333229.2																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(6952-6954)aaT>aaC		bromodomain and WD repeat domain containing 1							83.0	82.0	83.0					21																	40558961		2202	4299	6501	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40558961A>G	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6954T>C	21.37:g.40558961A>G							p.N2318N	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN			42	7281	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	2318					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.6954T>C	CCDS13662.1																																																																																				0.353	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		9	26	0	0	0	1	0	9	26				
BEND2	139105	broad.mit.edu	37	X	18221633	18221633	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:18221633G>T	ENST00000380033.4	-	5	1027	c.895C>A	c.(895-897)Cat>Aat	p.H299N	BEND2_ENST00000380030.3_Missense_Mutation_p.H299N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	299										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAATTGGGATGGAAGCAGAAA	0.383																																						ENST00000380033.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						c.(895-897)Cat>Aat		BEN domain containing 2							101.0	96.0	98.0					X																	18221633		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18221633G>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.895C>A	X.37:g.18221633G>T	ENSP00000369372:p.His299Asn					BEND2_ENST00000380030.3_Missense_Mutation_p.H299N	p.H299N	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN			5	1027	-			299					E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.895C>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	2.360	-0.346721	0.05208	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.23348	1.91;1.93	3.9	-1.71	0.08133	.	2.096150	0.02751	N	0.117422	T	0.12603	0.0306	N	0.14661	0.345	0.09310	N	1	B;B	0.31174	0.311;0.001	B;B	0.28849	0.095;0.0	T	0.09037	-1.0693	10	0.32370	T	0.25	-0.4074	0.2997	0.00271	0.2274:0.1666:0.2637:0.3422	.	299;299	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	N	299	ENSP00000369372:H299N;ENSP00000369369:H299N	ENSP00000369369:H299N	H	-	1	0	BEND2	18131554	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.534000	0.23098	-0.279000	0.09167	-0.540000	0.04249	CAT		0.383	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		12	9	1	0	0.000978159	1	0.00108052	12	9				
THSD7A	221981	broad.mit.edu	37	7	11418802	11418802	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:11418802C>A	ENST00000423059.4	-	26	4947	c.4696G>T	c.(4696-4698)Gac>Tac	p.D1566Y	AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000421121.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1566					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTCTTTTGTCCTCCATGGTG	0.507										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(4696-4698)Gac>Tac		thrombospondin, type I, domain containing 7A							131.0	127.0	128.0					7																	11418802		1914	4138	6052	SO:0001583	missense	221981					integral to membrane		g.chr7:11418802C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4696G>T	7.37:g.11418802C>A	ENSP00000406482:p.Asp1566Tyr	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000428967.1_RNA	p.D1566Y	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	26	4947	-			1566						Missense_Mutation	SNP	ENST00000423059.4	37	c.4696G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.035782	0.93630	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61392	0.11	6.16	6.16	0.99307	.	0.086610	0.85682	D	0.000000	T	0.72399	0.3455	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.68765	0.933;0.96	T	0.71437	-0.4593	10	0.72032	D	0.01	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1566;1566	Q9UPZ6;C9JL67	THS7A_HUMAN;.	Y	1566	ENSP00000406482:D1566Y	ENSP00000262042:D1566Y	D	-	1	0	THSD7A	11385327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAC		0.507	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		17	32	1	0	1.5739e-10	1	2.225e-10	17	32				
CXADRP3	440224	broad.mit.edu	37	18	14478401	14478401	+	lincRNA	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:14478401C>A	ENST00000581457.1	-	0	1507					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		TGGCAGCGGACGTACGGCTCT	0.443																																						ENST00000581457.1																			0																																																			440224							g.chr18:14478401C>A			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478401C>A								NR_024076.1						0	1507	-									RNA	SNP	ENST00000581457.1	37																																																																																						0.443	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		13	35	1	0	1.00905e-13	1	1.51676e-13	13	35				
SLCO1A2	6579	broad.mit.edu	37	12	21447035	21447035	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:21447035T>A	ENST00000307378.6	-	12	2001	c.1281A>T	c.(1279-1281)caA>caT	p.Q427H	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.Q425H|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.Q427H|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.Q295H|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.Q295H	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	427					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CATATAAATCTTGTGGAATTC	0.343																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1279-1281)caA>caT		solute carrier organic anion transporter family, member 1A2							40.0	39.0	39.0					12																	21447035		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21447035T>A		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1281A>T	12.37:g.21447035T>A	ENSP00000305974:p.Gln427His					SLCO1A2_ENST00000390670.3_Missense_Mutation_p.Q425H|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.Q427H|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.Q295H|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.Q295H	p.Q427H	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			12	2001	-			427					Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.1281A>T	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	T	9.139	1.013239	0.19277	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	4.66	-5.32	0.02722	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.732690	0.02484	N	0.088741	T	0.19644	0.0472	N	0.05592	-0.015	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.12837	0.003;0.008	T	0.11131	-1.0600	10	0.40728	T	0.16	.	2.5996	0.04863	0.1008:0.2237:0.3664:0.3092	.	425;427	P46721-2;P46721	.;SO1A2_HUMAN	H	427;427;295;295;425	ENSP00000305974:Q427H;ENSP00000393973:Q427H;ENSP00000394854:Q295H;ENSP00000439401:Q295H;ENSP00000375088:Q425H	ENSP00000305974:Q427H	Q	-	3	2	SLCO1A2	21338302	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-1.232000	0.02936	-0.681000	0.05204	0.477000	0.44152	CAA		0.343	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		31	9	0	0	0	1	0	31	9				
OR6S1	341799	broad.mit.edu	37	14	21109542	21109542	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:21109542G>T	ENST00000320704.3	-	1	308	c.309C>A	c.(307-309)ttC>ttA	p.F103L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AGTAGAAATAGAATTGGGTGA	0.488																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(307-309)ttC>ttA		olfactory receptor, family 6, subfamily S, member 1							101.0	101.0	101.0					14																	21109542		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109542G>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.309C>A	14.37:g.21109542G>T	ENSP00000313110:p.Phe103Leu						p.F103L	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	308	-	all_cancers(95;0.00304)		103					Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.309C>A	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	G	7.670	0.686790	0.14973	.	.	ENSG00000181803	ENST00000320704	T	0.01287	5.05	5.22	-0.679	0.11350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000175	T	0.00724	0.0024	N	0.13299	0.325	0.28798	N	0.898946	B	0.15719	0.014	B	0.12837	0.008	T	0.48222	-0.9054	10	0.02654	T	1	-18.755	4.7722	0.13162	0.4478:0.2609:0.2913:0.0	.	103	Q8NH40	OR6S1_HUMAN	L	103	ENSP00000313110:F103L	ENSP00000313110:F103L	F	-	3	2	OR6S1	20179382	0.001000	0.12720	0.992000	0.48379	0.993000	0.82548	-0.322000	0.08007	-0.019000	0.14055	0.655000	0.94253	TTC		0.488	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			10	40	1	0	4.1943e-16	1	6.44755e-16	10	40				
FMO1	2326	broad.mit.edu	37	1	171249998	171249998	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:171249998T>G	ENST00000354841.4	+	5	832	c.701T>G	c.(700-702)gTg>gGg	p.V234G	FMO1_ENST00000367750.3_Missense_Mutation_p.V234G|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.V171G	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	234					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.V234A(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGGGACATGGTGTTCATGACA	0.498																																						ENST00000354841.4																			1	Substitution - Missense(1)	p.V234A(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(700-702)gTg>gGg		flavin containing monooxygenase 1							120.0	103.0	109.0					1																	171249998		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171249998T>G	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.701T>G	1.37:g.171249998T>G	ENSP00000346901:p.Val234Gly					FMO1_ENST00000402921.2_Missense_Mutation_p.V171G|FMO1_ENST00000367750.3_Missense_Mutation_p.V234G|FMO1_ENST00000469112.1_3'UTR	p.V234G			Q01740	FMO1_HUMAN			5	832	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		234					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.701T>G	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	T	15.59	2.878616	0.51801	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.57752	0.38;0.38;0.38	5.85	4.69	0.59074	.	0.648754	0.16042	N	0.232389	T	0.63780	0.2540	M	0.83312	2.635	0.46901	D	0.999245	D;P;D	0.76494	0.999;0.936;0.989	D;P;D	0.72338	0.977;0.601;0.951	T	0.64765	-0.6330	10	0.39692	T	0.17	-0.0853	11.3125	0.49372	0.1366:0.0:0.0:0.8634	.	171;234;234	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	G	234;171;234	ENSP00000356724:V234G;ENSP00000385543:V171G;ENSP00000346901:V234G	ENSP00000346901:V234G	V	+	2	0	FMO1	169516622	0.006000	0.16342	0.746000	0.31095	0.986000	0.74619	1.385000	0.34408	0.980000	0.38523	0.533000	0.62120	GTG		0.498	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		16	33	0	0	0	1	0	16	33				
USH2A	7399	broad.mit.edu	37	1	216172258	216172258	+	Missense_Mutation	SNP	G	G	T	rs192115090	byFrequency	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:216172258G>T	ENST00000307340.3	-	34	7014	c.6628C>A	c.(6628-6630)Cct>Act	p.P2210T	USH2A_ENST00000366943.2_Missense_Mutation_p.P2210T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2210	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTATTACCAGGTAAAACGTAT	0.373										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6628-6630)Cct>Act		Usher syndrome 2A (autosomal recessive, mild)							110.0	110.0	110.0					1																	216172258		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216172258G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6628C>A	1.37:g.216172258G>T	ENSP00000305941:p.Pro2210Thr	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.P2210T	p.P2210T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	34	7014	-			2210			Fibronectin type-III 8.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6628C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378243	0.61735	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.61980	0.06;0.06	5.75	5.75	0.90469	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.43919	D	0.000520	T	0.79528	0.4461	M	0.86420	2.815	0.54753	D	0.999985	D	0.60575	0.988	P	0.57204	0.815	T	0.79052	-0.1961	10	0.35671	T	0.21	.	19.9347	0.97133	0.0:0.0:1.0:0.0	.	2210	O75445	USH2A_HUMAN	T	2210	ENSP00000305941:P2210T;ENSP00000355910:P2210T	ENSP00000305941:P2210T	P	-	1	0	USH2A	214238881	1.000000	0.71417	0.943000	0.38184	0.240000	0.25518	6.152000	0.71812	2.707000	0.92482	0.591000	0.81541	CCT		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	11	1	0	1	1	1	9	11				
BICC1	80114	broad.mit.edu	37	10	60558321	60558321	+	Splice_Site	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:60558321G>A	ENST00000373886.3	+	11	1532		c.e11+1		BICC1_ENST00000263103.1_Splice_Site	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGTGCCACAGGTCAGTATCAT	0.398																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.e11+1		bicaudal C homolog 1 (Drosophila)							103.0	97.0	99.0					10																	60558321		2203	4300	6503	SO:0001630	splice_region_variant	80114				multicellular organismal development		RNA binding	g.chr10:60558321G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1528+1G>A	10.37:g.60558321G>A						BICC1_ENST00000263103.1_Splice_Site		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			11	1532	+									Splice_Site	SNP	ENST00000373886.3	37		CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488373	0.84854	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BICC1	60228327	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.222000	0.72249	2.840000	0.97914	0.655000	0.94253	.		0.398	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044	Intron	14	39	0	0	0	1	0	14	39				
BPIFB3	359710	broad.mit.edu	37	20	31657705	31657705	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:31657705G>T	ENST00000375494.3	+	11	1161	c.1161G>T	c.(1159-1161)gtG>gtT	p.V387V		NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	387					innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCATGACTGTGCGTGCCCAGC	0.577																																						ENST00000375494.3																			0											c.(1159-1161)gtG>gtT		BPI fold containing family B, member 3							250.0	226.0	234.0					20																	31657705		2203	4300	6503	SO:0001819	synonymous_variant	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31657705G>T	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.1161G>T	20.37:g.31657705G>T							p.V387V	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			11	1161	+			387					Q5TDX7	Silent	SNP	ENST00000375494.3	37	c.1161G>T	CCDS13212.1																																																																																				0.577	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		49	121	1	0	7.05377e-20	1	1.12434e-19	49	121				
PLXNA2	5362	broad.mit.edu	37	1	208224641	208224641	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:208224641G>A	ENST00000367033.3	-	16	3878	c.3121C>T	c.(3121-3123)Cct>Tct	p.P1041S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1041	IPT/TIG 3.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGGACCCGAGGGTCATCTATG	0.597																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3121-3123)Cct>Tct		plexin A2							94.0	79.0	84.0					1																	208224641		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208224641G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3121C>T	1.37:g.208224641G>A	ENSP00000356000:p.Pro1041Ser						p.P1041S	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	16	3878	-			1041			IPT/TIG 3.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3121C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236735	0.95240	.	.	ENSG00000076356	ENST00000367033	D	0.84442	-1.85	5.09	5.09	0.68999	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93936	0.8059	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95113	0.8240	10	0.87932	D	0	.	18.5087	0.90907	0.0:0.0:1.0:0.0	.	1041	O75051	PLXA2_HUMAN	S	1041	ENSP00000356000:P1041S	ENSP00000356000:P1041S	P	-	1	0	PLXNA2	206291264	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.437000	0.97535	2.363000	0.80096	0.557000	0.71058	CCT		0.597	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		12	24	0	0	0	1	0	12	24				
KRT33A	3883	broad.mit.edu	37	17	39503099	39503099	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:39503099G>T	ENST00000007735.3	-	5	917	c.873C>A	c.(871-873)aaC>aaA	p.N291K		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	291	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TACACACCAGGTTGTGCTGGG	0.592																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(871-873)aaC>aaA		keratin 33A							95.0	86.0	89.0					17																	39503099		2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39503099G>T	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.873C>A	17.37:g.39503099G>T	ENSP00000007735:p.Asn291Lys						p.N291K	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			5	917	-		Breast(137;0.000496)	291			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.873C>A	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073301	0.36566	.	.	ENSG00000006059	ENST00000007735	D	0.87491	-2.26	4.4	3.41	0.39046	Filament (1);	0.160237	0.44688	D	0.000435	T	0.82245	0.4995	N	0.25031	0.7	0.32728	N	0.509415	B	0.23058	0.079	B	0.36766	0.232	D	0.83812	0.0242	10	0.52906	T	0.07	.	13.3377	0.60526	0.0:0.0:0.8417:0.1583	.	291	O76009	KT33A_HUMAN	K	291	ENSP00000007735:N291K	ENSP00000007735:N291K	N	-	3	2	KRT33A	36756625	1.000000	0.71417	1.000000	0.80357	0.478000	0.33099	3.936000	0.56568	1.159000	0.42565	0.655000	0.94253	AAC		0.592	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		28	57	1	0	4.22769e-11	1	6.04866e-11	28	57				
EEF1A1	1915	broad.mit.edu	37	6	74229614	74229614	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:74229614C>T	ENST00000316292.9	-	1	1127	c.136G>A	c.(136-138)Gct>Act	p.A46T	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000309268.6_Missense_Mutation_p.A46T|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A46T	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	46	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACCTCAGCAGCCTCCTTCTCA	0.418																																						ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(136-138)Gct>Act		eukaryotic translation elongation factor 1 alpha 1							137.0	139.0	138.0					6																	74229614		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229614C>T	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.136G>A	6.37:g.74229614C>T	ENSP00000339063:p.Ala46Thr					EEF1A1_ENST00000309268.6_Missense_Mutation_p.A46T|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A46T	p.A46T	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			1	1127	-			46					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.136G>A	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886418	0.72410	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.64402	U	0.000001	T	0.80803	0.4693	M	0.80982	2.52	0.80722	D	1	B;D;D;D;D	0.67145	0.009;0.981;0.981;0.981;0.996	B;P;P;P;D	0.63597	0.007;0.864;0.864;0.864;0.916	D	0.84401	0.0560	10	0.87932	D	0	.	17.0056	0.86392	0.0:1.0:0.0:0.0	.	46;46;46;46;46	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	T	46	ENSP00000339063:A46T;ENSP00000339053:A46T;ENSP00000330054:A46T;ENSP00000348651:A46T;ENSP00000392366:A46T	ENSP00000339053:A46T	A	-	1	0	EEF1A1	74286335	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.457000	0.80775	2.310000	0.77875	0.555000	0.69702	GCT		0.418	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		9	34	0	0	0	1	0	9	34				
SCNN1G	6340	broad.mit.edu	37	16	23208746	23208746	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:23208746C>T	ENST00000300061.2	+	6	1218	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	359					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	AGGAATGCACCTGGTAAGAGA	0.443																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1075-1077)Ctg>Ttg		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						96.0	93.0	94.0					16																	23208746		2197	4300	6497	SO:0001819	synonymous_variant	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23208746C>T	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1075C>T	16.37:g.23208746C>T						CTC-391G2.1_ENST00000563471.1_RNA	p.L359L	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	6	1218	+			359					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP	ENST00000300061.2	37	c.1075C>T	CCDS10608.1																																																																																				0.443	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		5	29	0	0	0	1	0	5	29				
POTEE	445582	broad.mit.edu	37	2	131976077	131976077	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:131976077C>T	ENST00000356920.5	+	1	196	c.102C>T	c.(100-102)tgC>tgT	p.C34C	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.C34C	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	34					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCTTCCCCTGCTACAGGGAGA	0.567																																						ENST00000356920.5																			0											c.(100-102)tgC>tgT		POTE ankyrin domain family, member E							154.0	178.0	170.0					2																	131976077		2184	4298	6482	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976077C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.102C>T	2.37:g.131976077C>T						POTEE_ENST00000358087.5_Silent_p.C34C|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	p.C34C	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	196	+			34					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.102C>T	CCDS46414.1																																																																																				0.567	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		63	131	0	0	0	1	0	63	131				
COL11A1	1301	broad.mit.edu	37	1	103444945	103444945	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:103444945C>G	ENST00000370096.3	-	32	2915	c.2603G>C	c.(2602-2604)gGt>gCt	p.G868A	COL11A1_ENST00000353414.4_Missense_Mutation_p.G829A|COL11A1_ENST00000358392.2_Missense_Mutation_p.G880A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G752A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	868	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACCCGTGCACCTTTCTCTCC	0.373																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2638-2640)gGt>gCt		collagen, type XI, alpha 1							49.0	53.0	51.0					1																	103444945		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444945C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2603G>C	1.37:g.103444945C>G	ENSP00000359114:p.Gly868Ala					COL11A1_ENST00000512756.1_Missense_Mutation_p.G752A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G829A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G868A	p.G880A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	32	2956	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	868			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2639G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643731	0.87859	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.99108	0.9693	M	0.93763	3.455	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.995;0.994	D	0.99490	1.0950	10	0.87932	D	0	.	18.5374	0.91015	0.0:1.0:0.0:0.0	.	752;829;880;868;88	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	A	868;880;829;88;752	ENSP00000359114:G868A;ENSP00000351163:G880A;ENSP00000302551:G829A;ENSP00000426533:G752A	ENSP00000302551:G829A	G	-	2	0	COL11A1	103217533	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.133000	0.77259	2.612000	0.88384	0.655000	0.94253	GGT		0.373	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	9	0	0	0	1	0	5	9				
MAGEB6	158809	broad.mit.edu	37	X	26212373	26212373	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:26212373G>T	ENST00000379034.1	+	2	559	c.410G>T	c.(409-411)aGc>aTc	p.S137I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	137	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAAAGTCCAAGCACTTCCCAT	0.537																																						ENST00000379034.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(409-411)aGc>aTc		melanoma antigen family B, 6							86.0	78.0	81.0					X																	26212373		2202	4300	6502	SO:0001583	missense	158809							g.chrX:26212373G>T	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.410G>T	X.37:g.26212373G>T	ENSP00000368320:p.Ser137Ile						p.S137I	NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN			2	559	+			137			Ser-rich.		Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	c.410G>T	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587567	0.28268	.	.	ENSG00000176746	ENST00000379034	T	0.02015	4.5	2.09	-1.52	0.08637	.	.	.	.	.	T	0.01454	0.0047	N	0.24115	0.695	0.09310	N	1	P	0.45474	0.859	B	0.39419	0.299	T	0.41928	-0.9481	9	0.62326	D	0.03	.	0.6113	0.00762	0.1772:0.238:0.3423:0.2425	.	137	Q8N7X4	MAGB6_HUMAN	I	137	ENSP00000368320:S137I	ENSP00000368320:S137I	S	+	2	0	MAGEB6	26122294	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.324000	0.01116	-0.526000	0.06383	0.492000	0.49549	AGC		0.537	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523		9	4	1	0	3.09899e-07	1	3.94643e-07	9	4				
EXOC6	54536	broad.mit.edu	37	10	94715404	94715404	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:94715404C>G	ENST00000260762.6	+	17	1720	c.1706C>G	c.(1705-1707)aCt>aGt	p.T569S	EXOC6_ENST00000371547.4_Missense_Mutation_p.T585S|EXOC6_ENST00000443748.2_Missense_Mutation_p.T466S|EXOC6_ENST00000371552.4_Missense_Mutation_p.T564S	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	569					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GACTTTATAACTAACATTACA	0.303																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(1690-1692)aCt>aGt		exocyst complex component 6							78.0	82.0	80.0					10																	94715404		2203	4289	6492	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94715404C>G	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1706C>G	10.37:g.94715404C>G	ENSP00000260762:p.Thr569Ser					EXOC6_ENST00000443748.2_Missense_Mutation_p.T466S|EXOC6_ENST00000260762.6_Missense_Mutation_p.T569S|EXOC6_ENST00000371547.4_Missense_Mutation_p.T585S	p.T564S	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			17	1720	+		Colorectal(252;0.123)	569					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.1691C>G	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104601	0.37145	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	6.06	6.06	0.98353	.	0.043163	0.85682	D	0.000000	T	0.19208	0.0461	N	0.10685	0.025	0.80722	D	1	B;B;B;B;B;B	0.20988	0.001;0.05;0.002;0.0;0.002;0.002	B;B;B;B;B;B	0.18871	0.001;0.023;0.016;0.006;0.01;0.01	T	0.13495	-1.0507	10	0.12766	T	0.61	-14.9818	20.6208	0.99490	0.0:1.0:0.0:0.0	.	585;466;561;522;569;564	F2Z2Q3;E7EW84;B4DEZ1;B2RDH5;Q8TAG9;E9PHI3	.;.;.;.;EXOC6_HUMAN;.	S	585;564;466;569	ENSP00000360602:T585S;ENSP00000360607:T564S;ENSP00000396206:T466S;ENSP00000260762:T569S	ENSP00000260762:T569S	T	+	2	0	EXOC6	94705384	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.764000	0.85297	2.882000	0.98803	0.655000	0.94253	ACT		0.303	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		7	11	0	0	0	1	0	7	11				
ZNF235	9310	broad.mit.edu	37	19	44792899	44792899	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:44792899T>A	ENST00000291182.4	-	5	791	c.689A>T	c.(688-690)cAc>cTc	p.H230L	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ATCTCTTTTGTGCACTATATT	0.358																																						ENST00000291182.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(688-690)cAc>cTc		zinc finger protein 235							111.0	114.0	113.0					19																	44792899		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44792899T>A	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.689A>T	19.37:g.44792899T>A	ENSP00000291182:p.His230Leu					ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	p.H230L	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN			5	791	-		Prostate(69;0.0352)|all_neural(266;0.116)	230					B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.689A>T	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	t	11.08	1.533425	0.27387	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.05081	3.5	4.15	-0.627	0.11541	.	1.103100	0.07087	N	0.838049	T	0.06416	0.0165	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.45687	-0.9244	10	0.87932	D	0	.	1.363	0.02195	0.1435:0.1708:0.1487:0.5371	.	226;230	Q14590-2;Q14590	.;ZN235_HUMAN	L	230;230;152	ENSP00000291182:H230L	ENSP00000291182:H230L	H	-	2	0	ZNF235	49484739	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.009000	0.12765	-0.322000	0.08615	0.375000	0.23000	CAC		0.358	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			10	23	0	0	0	1	0	10	23				
EML1	2009	broad.mit.edu	37	14	100331947	100331947	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:100331947G>T	ENST00000262233.6	+	3	486	c.347G>T	c.(346-348)gGg>gTg	p.G116V	EML1_ENST00000556758.1_3'UTR|EML1_ENST00000327921.9_Missense_Mutation_p.G85V|EML1_ENST00000334192.4_Missense_Mutation_p.G116V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	116					brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TCCCCCTCCGGGGTCAGGAAA	0.498																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(346-348)gGg>gTg		echinoderm microtubule associated protein like 1							54.0	53.0	53.0					14																	100331947		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100331947G>T	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.347G>T	14.37:g.100331947G>T	ENSP00000262233:p.Gly116Val					EML1_ENST00000556758.1_3'UTR|EML1_ENST00000334192.4_Missense_Mutation_p.G116V|EML1_ENST00000327921.9_Missense_Mutation_p.G85V	p.G116V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			3	486	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	116					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.347G>T	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612001	0.46631	.	.	ENSG00000066629	ENST00000554479;ENST00000555145;ENST00000327921;ENST00000556199;ENST00000556835;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714;ENST00000556947;ENST00000557741	T;T;T;T;T	0.30714	2.93;1.84;1.77;1.85;1.52	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.44052	0.1275	L	0.28274	0.84	0.80722	D	1	D;D;P;D;D	0.69078	0.997;0.994;0.913;0.997;0.997	D;D;B;D;D	0.69307	0.959;0.911;0.439;0.963;0.941	T	0.32025	-0.9922	10	0.45353	T	0.12	-23.4047	19.1741	0.93597	0.0:0.0:1.0:0.0	.	85;85;116;116;116	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	V	103;103;85;85;85;116;116;116;85;122;1	ENSP00000451346:G103V;ENSP00000327384:G85V;ENSP00000262233:G116V;ENSP00000334314:G116V;ENSP00000452089:G85V	ENSP00000262233:G116V	G	+	2	0	EML1	99401700	1.000000	0.71417	0.976000	0.42696	0.167000	0.22549	7.050000	0.76620	2.530000	0.85305	0.655000	0.94253	GGG		0.498	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		8	17	1	0	3.09899e-07	1	3.94643e-07	8	17				
SIM1	6492	broad.mit.edu	37	6	100838643	100838643	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:100838643T>C	ENST00000369208.3	-	12	2677	c.1895A>G	c.(1894-1896)cAt>cGt	p.H632R	SIM1_ENST00000262901.4_Missense_Mutation_p.H632R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	632	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTGCTGGATATGGTCACATGG	0.498																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1894-1896)cAt>cGt		single-minded family bHLH transcription factor 1							157.0	155.0	156.0					6																	100838643		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838643T>C	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1895A>G	6.37:g.100838643T>C	ENSP00000358210:p.His632Arg					SIM1_ENST00000262901.4_Missense_Mutation_p.H632R	p.H632R			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	12	2677	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	632			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1895A>G	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	T	9.707	1.155983	0.21454	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03152	4.03;4.03	5.82	5.82	0.92795	Single-minded, C-terminal (2);	0.139902	0.64402	D	0.000004	T	0.00967	0.0032	N	0.08118	0	0.46654	D	0.999148	B	0.02656	0.0	B	0.04013	0.001	T	0.52953	-0.8506	10	0.12103	T	0.63	.	16.1986	0.82053	0.0:0.0:0.0:1.0	.	632	P81133	SIM1_HUMAN	R	632	ENSP00000358210:H632R;ENSP00000262901:H632R	ENSP00000262901:H632R	H	-	2	0	SIM1	100945364	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.140000	0.42159	2.227000	0.72691	0.455000	0.32223	CAT		0.498	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		20	43	0	0	0	1	0	20	43				
MUC16	94025	broad.mit.edu	37	19	9062836	9062836	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:9062836T>C	ENST00000397910.4	-	3	24813	c.24610A>G	c.(24610-24612)Aca>Gca	p.T8204A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8206	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGGATCTGTTTGTGTCTTG	0.468																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(24610-24612)Aca>Gca		mucin 16, cell surface associated							124.0	114.0	117.0					19																	9062836		2012	4188	6200	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062836T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24610A>G	19.37:g.9062836T>C	ENSP00000381008:p.Thr8204Ala						p.T8204A	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	24813	-			8206			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.24610A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.391	0.257285	0.10239	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.87	1.8	0.24995	.	.	.	.	.	T	0.02494	0.0076	N	0.17082	0.46	.	.	.	D	0.54964	0.969	P	0.50049	0.629	T	0.45877	-0.9231	8	0.87932	D	0	.	5.9862	0.19436	0.0:0.0:0.3168:0.6832	.	8204	B5ME49	.	A	8204	ENSP00000381008:T8204A	ENSP00000381008:T8204A	T	-	1	0	MUC16	8923836	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.623000	0.05546	0.509000	0.28195	0.324000	0.21423	ACA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	24	0	0	0	1	0	15	24				
NTN1	9423	broad.mit.edu	37	17	9066205	9066205	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:9066205G>T	ENST00000173229.2	+	3	1201	c.1094G>T	c.(1093-1095)gGa>gTa	p.G365V	NTN1_ENST00000538852.1_Missense_Mutation_p.G365V|NTN1_ENST00000546090.1_Missense_Mutation_p.G365V	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	365	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)			NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CGCAAGAGCGGAGGTGTCTGC	0.632																																						ENST00000173229.2																		NTN1/ACLY(2)	0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						c.(1093-1095)gGa>gTa		netrin 1							41.0	36.0	38.0					17																	9066205		2203	4300	6503	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:9066205G>T	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1094G>T	17.37:g.9066205G>T	ENSP00000173229:p.Gly365Val					NTN1_ENST00000538852.1_Missense_Mutation_p.G365V|NTN1_ENST00000546090.1_Missense_Mutation_p.G365V	p.G365V	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN			3	1201	+			365			Laminin EGF-like 2.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.1094G>T	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568707	0.86439	.	.	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.61980	0.06;0.06;0.06	4.62	4.62	0.57501	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.85344	0.5675	H	0.95114	3.625	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.90401	0.4402	10	0.87932	D	0	.	17.8203	0.88648	0.0:0.0:1.0:0.0	.	365	O95631	NET1_HUMAN	V	365	ENSP00000173229:G365V;ENSP00000443259:G365V;ENSP00000441611:G365V	ENSP00000173229:G365V	G	+	2	0	NTN1	9006930	1.000000	0.71417	0.988000	0.46212	0.867000	0.49689	9.324000	0.96373	2.293000	0.77203	0.650000	0.86243	GGA		0.632	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			15	32	1	0	0.00316338	1	0.00343061	15	32				
PAX1	5075	broad.mit.edu	37	20	21687211	21687211	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:21687211G>T	ENST00000398485.2	+	2	476	c.422G>T	c.(421-423)cGc>cTc	p.R141L	PAX1_ENST00000444366.2_Missense_Mutation_p.R117L|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	141	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGCAGCTCCGCGTATCCCAC	0.677																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(421-423)cGc>cTc		paired box 1							45.0	47.0	47.0					20																	21687211		2203	4299	6502	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21687211G>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.422G>T	20.37:g.21687211G>T	ENSP00000381499:p.Arg141Leu					PAX1_ENST00000444366.2_Missense_Mutation_p.R117L|PAX1_ENST00000460221.1_Intron	p.R141L	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			2	476	+			141			Paired.		B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.422G>T	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691045	0.68271	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99429	-5.89;-5.89	5.14	5.14	0.70334	Paired box protein, N-terminal (5);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99306	0.9757	L	0.49778	1.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.988;0.998;0.997	D	0.99764	1.1022	10	0.87932	D	0	.	18.2175	0.89890	0.0:0.0:1.0:0.0	.	117;47;141	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	L	141;117	ENSP00000381499:R141L;ENSP00000410355:R117L	ENSP00000381499:R141L	R	+	2	0	PAX1	21635211	1.000000	0.71417	0.802000	0.32245	0.044000	0.14063	9.654000	0.98509	2.382000	0.81193	0.655000	0.94253	CGC		0.677	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			24	66	1	0	3.08376e-08	1	4.04637e-08	24	66				
MUC5AC	4586	broad.mit.edu	37	11	1158115	1158115	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:1158115G>T	ENST00000356191.2	+	14	1086	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	365					cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGGCCTGTGAGGACCACTGTG	0.667																																						ENST00000356191.2																			0				NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(1084-1086)gaG>gaT		mucin 5AC, oligomeric mucus/gel-forming							19.0	19.0	19.0					11																	1158115		868	1988	2856	SO:0001583	missense	4586							g.chr11:1158115G>T	AJ001402, AJ298317		11p15.5	2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182		"""Mucins"""	7515	protein-coding gene	gene with protein product		158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	Standard	XM_006709945		Approved	MUC5	uc001lsz.3	P98088	OTTHUMG00000154270	ENST00000356191.2:c.1086G>T	11.37:g.1158115G>T	ENSP00000348519:p.Glu362Asp						p.E362D						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	14	1086	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)						O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.1086G>T		.	.	.	.	.	.	.	.	.	.	g	10.42	1.345618	0.24426	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.22134	1.97;1.97	2.66	0.693	0.18056	.	.	.	.	.	T	0.17450	0.0419	N	0.25144	0.715	.	.	.	P	0.38551	0.636	P	0.47827	0.558	T	0.26052	-1.0114	8	0.56958	D	0.05	.	2.8339	0.05508	0.4535:0.0:0.3405:0.206	.	365	A7Y9J9	.	D	365;362	ENSP00000435591:E365D;ENSP00000348519:E362D	ENSP00000348519:E362D	E	+	3	2	MUC5AC	1148115	0.002000	0.14202	0.957000	0.39632	0.353000	0.29299	-0.718000	0.04980	0.033000	0.15463	-0.494000	0.04653	GAG		0.667	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_001130382		3	15	1	0	0.004672	1	0.0050322	3	15				
ZNF676	163223	broad.mit.edu	37	19	22363620	22363620	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:22363620T>A	ENST00000397121.2	-	3	1216	c.899A>T	c.(898-900)aAg>aTg	p.K300M		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATGAATTCTCTTATGTTCCAT	0.433																																						ENST00000397121.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(898-900)aAg>aTg		zinc finger protein 676							89.0	92.0	91.0					19																	22363620		2130	4267	6397	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363620T>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.899A>T	19.37:g.22363620T>A	ENSP00000380310:p.Lys300Met						p.K300M	NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN			3	1216	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	300					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.899A>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	10.24	1.295194	0.23564	.	.	ENSG00000196109	ENST00000397121	T	0.04454	3.62	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	N	0.10618	0.005	0.21604	N	0.999621	D	0.89917	1.0	D	0.91635	0.999	T	0.38067	-0.9678	9	0.62326	D	0.03	.	4.0186	0.09655	0.0:0.2571:0.0:0.7429	.	300	Q8N7Q3	ZN676_HUMAN	M	300	ENSP00000380310:K300M	ENSP00000380310:K300M	K	-	2	0	ZNF676	22155460	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-1.382000	0.02546	0.166000	0.19597	0.164000	0.16699	AAG		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		11	24	0	0	0	1	0	11	24				
LAMA2	3908	broad.mit.edu	37	6	129835634	129835634	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:129835634C>A	ENST00000421865.2	+	64	9154	c.9105C>A	c.(9103-9105)caC>caA	p.H3035Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3035	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGATCAAACACCGCATTGAGC	0.507																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(9103-9105)caC>caA		laminin, alpha 2							193.0	153.0	167.0					6																	129835634		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129835634C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.9105C>A	6.37:g.129835634C>A	ENSP00000400365:p.His3035Gln						p.H3035Q	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	64	9154	+			3035			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.9105C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161908	0.38217	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.40476	1.03	5.49	0.702	0.18110	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.043944	0.85682	D	0.000000	T	0.36936	0.0985	M	0.62723	1.935	0.42796	D	0.993919	D;D	0.53745	0.962;0.962	P;P	0.56088	0.791;0.791	T	0.21245	-1.0251	9	.	.	.	.	10.3222	0.43773	0.0:0.5969:0.0:0.4031	.	3036;3035	A6NF00;P24043	.;LAMA2_HUMAN	Q	3035;3034;3035;1053	ENSP00000400365:H3035Q	.	H	+	3	2	LAMA2	129877327	0.999000	0.42202	0.797000	0.32132	0.284000	0.27059	1.033000	0.30191	0.044000	0.15775	-0.150000	0.13652	CAC		0.507	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			16	31	1	0	3.52763e-06	1	4.32978e-06	16	31				
WT1	7490	broad.mit.edu	37	11	32413565	32413565	+	Missense_Mutation	SNP	C	C	A	rs121907903		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:32413565C>A	ENST00000379079.2	-	9	1022	c.749G>T	c.(748-750)cGg>cTg	p.R250L	WT1_ENST00000448076.3_Missense_Mutation_p.R462L|WT1_ENST00000332351.3_Missense_Mutation_p.R462L|WT1_ENST00000530998.1_Missense_Mutation_p.R233L	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	394					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R394Q(6)|p.R394P(6)|p.R250L(1)|p.V380_S410del(1)|p.R394L(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTGGTCGGACCGGGAGAACTT	0.433			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													ENST00000332351.3			yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	"""D, Mis, N, F, S"""	Wilms tumour 1 gene			O	EWSR1	Wilms	"""Wilms, desmoplastic small round cell tumor"""	EWSR1/WT1(234)	15	Substitution - Missense(14)|Deletion - In frame(1)	p.R394Q(6)|p.R394P(6)|p.R250L(1)|p.V380_S410del(1)|p.R394L(1)	haematopoietic_and_lymphoid_tissue(12)|lung(2)|large_intestine(1)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	GRCh37	CM041493|CM920718|CM982050	WT1	M	rs121907903	c.(1384-1386)cGg>cTg		Wilms tumor 1							192.0	188.0	190.0					11																	32413565		2202	4299	6501	SO:0001583	missense	7490	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated	adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:32413565C>A		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.749G>T	11.37:g.32413565C>A	ENSP00000368370:p.Arg250Leu					WT1_ENST00000379079.2_Missense_Mutation_p.R250L|WT1_ENST00000530998.1_Missense_Mutation_p.R233L|WT1_ENST00000448076.3_Missense_Mutation_p.R462L	p.R462L	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(30;0.128)		9	1669	-	Breast(20;0.247)		394					A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	c.1385G>T	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587265	0.96590	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	T;T;T;T;T	0.60548	3.34;0.18;0.18;3.34;3.34	6.04	6.04	0.98038	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000011	T	0.74642	0.3743	L	0.55017	1.72	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.998;0.999;0.999;0.999;0.999	T	0.74080	-0.3780	10	0.72032	D	0.01	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	450;394;467;233;250	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	L	250;462;233;445;462	ENSP00000368370:R250L;ENSP00000331327:R462L;ENSP00000435307:R233L;ENSP00000415516:R445L;ENSP00000413452:R462L	ENSP00000331327:R462L	R	-	2	0	WT1	32370141	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.794000	0.85869	2.873000	0.98535	0.561000	0.74099	CGG		0.433	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378		28	75	1	0	2.12542e-12	1	3.10638e-12	28	75				
ERP27	121506	broad.mit.edu	37	12	15090986	15090986	+	Splice_Site	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:15090986T>C	ENST00000266397.2	-	2	668	c.95A>G	c.(94-96)gAt>gGt	p.D32G		NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	32						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ACCAGGACCATCTAGAGAGAG	0.498																																						ENST00000266397.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						c.e2-1		endoplasmic reticulum protein 27							79.0	79.0	79.0					12																	15090986		2203	4300	6503	SO:0001630	splice_region_variant	121506					endoplasmic reticulum lumen		g.chr12:15090986T>C	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.95-1A>G	12.37:g.15090986T>C							p.D32_splice	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN			2	668	-			32						Splice_Site	SNP	ENST00000266397.2	37	c.94_splice	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246469	0.59103	.	.	ENSG00000139055	ENST00000266397	T	0.24151	1.87	4.97	3.8	0.43715	.	0.071702	0.49305	D	0.000157	T	0.23210	0.0561	L	0.54323	1.7	0.58432	D	0.999999	B	0.19935	0.04	B	0.27262	0.078	T	0.04333	-1.0959	10	0.20519	T	0.43	.	9.0413	0.36319	0.0:0.0896:0.0:0.9104	.	32	Q96DN0	ERP27_HUMAN	G	32	ENSP00000266397:D32G	ENSP00000266397:D32G	D	-	2	0	ERP27	14982253	0.169000	0.23002	0.941000	0.38009	0.883000	0.51084	0.267000	0.18552	2.087000	0.62958	0.459000	0.35465	GAT		0.498	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321	Missense_Mutation	23	94	0	0	0	1	0	23	94				
MUC4	4585	broad.mit.edu	37	3	195516522	195516522	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:195516522C>A	ENST00000463781.3	-	2	2388	c.1929G>T	c.(1927-1929)ccG>ccT	p.P643P	MUC4_ENST00000475231.1_Silent_p.P643P|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	648					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTGGTCTGCGGGGCTTGAG	0.522																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1927-1929)ccG>ccT		mucin 4, cell surface associated							267.0	274.0	272.0					3																	195516522		2073	4202	6275	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516522C>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1929G>T	3.37:g.195516522C>A						MUC4_ENST00000475231.1_Silent_p.P643P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.P643P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2388	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	648					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.1929G>T	CCDS54700.1																																																																																				0.522	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		30	124	1	0	6.38683e-12	1	9.30597e-12	30	124				
DNER	92737	broad.mit.edu	37	2	230456321	230456321	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:230456321A>T	ENST00000341772.4	-	2	694	c.560T>A	c.(559-561)gTa>gAa	p.V187E		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	187					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTTCATTTCTACAACTTTCTG	0.468																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(559-561)gTa>gAa		delta/notch-like EGF repeat containing							73.0	70.0	71.0					2																	230456321		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230456321A>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.560T>A	2.37:g.230456321A>T	ENSP00000345229:p.Val187Glu						p.V187E	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	2	694	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	187					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.560T>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.236836	0.79800	.	.	ENSG00000187957	ENST00000341772	D	0.86627	-2.15	5.75	5.75	0.90469	.	0.197005	0.45606	D	0.000355	T	0.82195	0.4984	N	0.19112	0.55	0.44660	D	0.997643	D	0.56035	0.974	P	0.49140	0.601	D	0.84108	0.0399	10	0.66056	D	0.02	.	10.4039	0.44246	0.9272:0.0:0.0728:0.0	.	187	Q8NFT8	DNER_HUMAN	E	187	ENSP00000345229:V187E	ENSP00000345229:V187E	V	-	2	0	DNER	230164565	0.999000	0.42202	0.991000	0.47740	0.994000	0.84299	6.341000	0.72977	2.187000	0.69744	0.533000	0.62120	GTA		0.468	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		12	19	0	0	0	1	0	12	19				
PLA2G7	7941	broad.mit.edu	37	6	46680027	46680027	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:46680027A>G	ENST00000274793.7	-	6	714	c.518T>C	c.(517-519)aTa>aCa	p.I173T	PLA2G7_ENST00000541026.1_Missense_Mutation_p.I46T|PLA2G7_ENST00000537365.1_Missense_Mutation_p.I173T|PLA2G7_ENST00000538237.1_Missense_Mutation_p.I128T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	173					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AGCAGCAACTATAAACCCATG	0.383																																						ENST00000274793.7																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(517-519)aTa>aCa		phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)							119.0	105.0	110.0					6																	46680027		2203	4300	6503	SO:0001583	missense	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46680027A>G	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.518T>C	6.37:g.46680027A>G	ENSP00000274793:p.Ile173Thr					PLA2G7_ENST00000538237.1_Missense_Mutation_p.I128T|PLA2G7_ENST00000537365.1_Missense_Mutation_p.I173T|PLA2G7_ENST00000541026.1_Missense_Mutation_p.I46T	p.I173T	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	Lung(136;0.192)		6	714	-			173					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	37	c.518T>C	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522177	0.85600	.	.	ENSG00000146070	ENST00000274793;ENST00000537365;ENST00000538237;ENST00000541026	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.59	5.59	0.84812	.	0.137657	0.64402	D	0.000005	T	0.70307	0.3209	M	0.85197	2.74	0.45979	D	0.998795	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.77004	0.976;0.989;0.987;0.987	T	0.76906	-0.2786	10	0.87932	D	0	.	15.4295	0.75081	1.0:0.0:0.0:0.0	.	46;128;173;173	B4DLM5;F5GYY6;A8K2W6;Q13093	.;.;.;PAFA_HUMAN	T	173;173;128;46	ENSP00000274793:I173T;ENSP00000445666:I173T;ENSP00000441416:I128T;ENSP00000444164:I46T	ENSP00000274793:I173T	I	-	2	0	PLA2G7	46787986	1.000000	0.71417	0.981000	0.43875	0.997000	0.91878	8.634000	0.91002	2.128000	0.65567	0.460000	0.39030	ATA		0.383	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1			6	19	0	0	0	1	0	6	19				
GCSAM	257144	broad.mit.edu	37	3	111846896	111846896	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:111846896G>T	ENST00000308910.4	-	3	295	c.111C>A	c.(109-111)caC>caA	p.H37Q	C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.H39Q	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1	Q8N6F7	GCSAM_HUMAN	germinal center-associated, signaling and motility	37					negative regulation of lymphocyte migration (GO:2000402)|regulation of B cell receptor signaling pathway (GO:0050855)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|myosin II binding (GO:0045159)|protein kinase binding (GO:0019901)										CAGCGATATGGTGATCCCAGC	0.418																																						ENST00000308910.4																			0											c.(109-111)caC>caA		germinal center-associated, signaling and motility							140.0	123.0	129.0					3																	111846896		2203	4300	6503	SO:0001583	missense	257144							g.chr3:111846896G>T	BC030506	CCDS2964.1, CCDS54621.1, CCDS54622.1	3q13.13	2012-09-03	2012-08-23	2012-08-23	ENSG00000174500	ENSG00000174500			20253	protein-coding gene	gene with protein product	"""human germinal center-associated lymphoma"""	607792	"""germinal center expressed transcript 2"""	GCET2			Standard	NM_152785		Approved	MGC40441, HGAL	uc021xcl.1	Q8N6F7	OTTHUMG00000159231	ENST00000308910.4:c.111C>A	3.37:g.111846896G>T	ENSP00000309487:p.His37Gln					C3orf52_ENST00000467942.2_Intron|GCSAM_ENST00000484193.1_Missense_Mutation_p.H39Q	p.H37Q	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1					3	295	-								C9JD17|C9JUG6	Missense_Mutation	SNP	ENST00000308910.4	37	c.111C>A	CCDS2964.1	.	.	.	.	.	.	.	.	.	.	G	0.443	-0.897372	0.02472	.	.	ENSG00000174500	ENST00000308910;ENST00000484193;ENST00000488580;ENST00000487901	.	.	.	4.17	2.34	0.29019	.	1.714180	0.02990	N	0.146774	T	0.24044	0.0582	N	0.14661	0.345	0.20638	N	0.99988	P	0.39157	0.662	B	0.36845	0.234	T	0.21621	-1.0240	9	0.46703	T	0.11	0.6374	6.0769	0.19921	0.2349:0.0:0.7651:0.0	.	37	Q8N6F7	GCET2_HUMAN	Q	37;39;20;20	.	ENSP00000309487:H37Q	H	-	3	2	GCET2	113329586	0.002000	0.14202	0.006000	0.13384	0.269000	0.26545	0.290000	0.18975	0.685000	0.31468	0.650000	0.86243	CAC		0.418	GCSAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353967.2	NM_152785		9	19	1	0	0.00829132	1	0.00891035	9	19				
TLE6	79816	broad.mit.edu	37	19	2991911	2991911	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:2991911C>T	ENST00000246112.4	+	14	1516	c.1315C>T	c.(1315-1317)Ccg>Tcg	p.P439S	TLE6_ENST00000452088.1_Missense_Mutation_p.P316S	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	439					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GACTGGGGGTCCGGATGCCTG	0.577																																						ENST00000246112.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10						c.(1315-1317)Ccg>Tcg		transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)							94.0	79.0	84.0					19																	2991911		2203	4300	6503	SO:0001583	missense	79816				regulation of transcription, DNA-dependent	nucleus		g.chr19:2991911C>T	AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.1315C>T	19.37:g.2991911C>T	ENSP00000246112:p.Pro439Ser					TLE6_ENST00000452088.1_Missense_Mutation_p.P316S	p.P439S	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_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)	14	1516	+			316					J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	c.1315C>T	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	C	9.031	0.987354	0.18889	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.10005	2.92;2.92	3.09	3.09	0.35607	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.04092	0.0114	N	0.01874	-0.695	0.24963	N	0.991711	P;B;B;B	0.36249	0.545;0.372;0.175;0.266	B;B;B;B	0.31495	0.131;0.098;0.058;0.093	T	0.26538	-1.0100	9	0.62326	D	0.03	.	9.8977	0.41329	0.0:1.0:0.0:0.0	.	439;297;316;316	C9JGZ7;Q9Y6S1;Q9H808;Q6PJM9	.;.;TLE6_HUMAN;.	S	439;439;316;316	ENSP00000246112:P439S;ENSP00000406893:P316S	ENSP00000246112:P439S	P	+	1	0	TLE6	2942911	0.993000	0.37304	0.679000	0.29978	0.025000	0.11179	3.171000	0.50824	2.052000	0.61016	0.462000	0.41574	CCG		0.577	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3	NM_024760		16	36	0	0	0	1	0	16	36				
DHX8	1659	broad.mit.edu	37	17	41597587	41597587	+	Silent	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:41597587A>T	ENST00000262415.3	+	19	2961	c.2889A>T	c.(2887-2889)acA>acT	p.T963T	DHX8_ENST00000540306.1_Silent_p.T963T	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	963					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGCTGTACACACTGGGGGCCC	0.547											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2887-2889)acA>acT		DEAH (Asp-Glu-Ala-His) box polypeptide 8							97.0	92.0	94.0					17																	41597587		2203	4300	6503	SO:0001819	synonymous_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41597587A>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2889A>T	17.37:g.41597587A>T			OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	DHX8_ENST00000540306.1_Silent_p.T963T	p.T963T	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	19	2961	+		Breast(137;0.00908)	963						Silent	SNP	ENST00000262415.3	37	c.2889A>T	CCDS11464.1																																																																																				0.547	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			27	59	0	0	0	1	0	27	59				
LILRA5	353514	broad.mit.edu	37	19	54823884	54823884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:54823884C>T	ENST00000301219.3	-	2	130	c.11G>A	c.(10-12)tGg>tAg	p.W4*	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Nonsense_Mutation_p.W4*|LILRA5_ENST00000432233.3_Nonsense_Mutation_p.W4*|LILRA5_ENST00000346508.3_Nonsense_Mutation_p.W4*	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	4					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGATGAGACCATGGTGCCTG	0.587																																						ENST00000301219.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(10-12)tGg>tAg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							42.0	33.0	36.0					19																	54823884		2203	4300	6503	SO:0001587	stop_gained	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823884C>T	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.11G>A	19.37:g.54823884C>T	ENSP00000301219:p.Trp4*					LILRA5_ENST00000446712.3_Nonsense_Mutation_p.W4*|LILRA5_ENST00000432233.3_Nonsense_Mutation_p.W4*|LILRA5_ENST00000346508.3_Nonsense_Mutation_p.W4*|AC008984.2_ENST00000507363.1_RNA	p.W4*	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	2	130	-	Ovarian(34;0.19)		4					A6NHI3	Nonsense_Mutation	SNP	ENST00000301219.3	37	c.11G>A	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196416	0.38806	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	.	.	.	2.92	-0.527	0.11909	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	4.8433	0.13501	0.0:0.5089:0.0:0.4911	.	.	.	.	X	4	.	ENSP00000301219:W4X	W	-	2	0	LILRA5	59515696	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.096000	0.03353	0.074000	0.16767	-0.474000	0.04947	TGG		0.587	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		7	13	0	0	0	1	0	7	13				
FCRL5	83416	broad.mit.edu	37	1	157516733	157516733	+	Splice_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:157516733C>A	ENST00000361835.3	-	3	464	c.307G>T	c.(307-309)Gct>Tct	p.A103S	FCRL5_ENST00000368189.3_Splice_Site_p.A103S|FCRL5_ENST00000368188.2_Splice_Site_p.E103*|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000356953.4_Splice_Site_p.A103S|FCRL5_ENST00000368190.3_Splice_Site_p.A103S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	103					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCTCTCTCACCTGAAGAAAAA	0.483																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.e3+1		Fc receptor-like 5							86.0	92.0	90.0					1																	157516733		2203	4300	6503	SO:0001630	splice_region_variant	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157516733C>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.307+1G>T	1.37:g.157516733C>A						FCRL5_ENST00000368188.2_Splice_Site_p.E103_splice|FCRL5_ENST00000368189.3_Splice_Site_p.A103_splice|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368190.3_Splice_Site_p.A103_splice|FCRL5_ENST00000356953.4_Splice_Site_p.A103_splice	p.A103_splice	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			3	464	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	103					A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Splice_Site	SNP	ENST00000361835.3	37	c.307_splice	CCDS1165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.01|15.01	2.705143|2.705143	0.48412|0.48412	.|.	.|.	ENSG00000143297|ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368189|ENST00000368188	T;T;T;T|.	0.03386|.	3.95;3.95;3.95;3.95|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|.	.|.	.|.	.|.	T|.	0.65417|.	0.2689|.	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	P;P;D;D|.	0.65815|.	0.523;0.931;0.995;0.971|.	B;P;P;P|.	0.59825|.	0.431;0.636;0.864;0.636|.	T|.	0.66709|.	-0.5855|.	8|.	.|.	.|.	.|.	.|.	13.741|13.741	0.62847|0.62847	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	103;103;103;103|.	Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9|.	.;.;.;FCRL5_HUMAN|.	S|X	103|103	ENSP00000354691:A103S;ENSP00000349434:A103S;ENSP00000357173:A103S;ENSP00000357172:A103S|.	.|.	A|E	-|-	1|1	0|0	FCRL5|FCRL5	155783357|155783357	0.998000|0.998000	0.40836|0.40836	0.982000|0.982000	0.44146|0.44146	0.261000|0.261000	0.26267|0.26267	1.984000|1.984000	0.40658|0.40658	2.309000|2.309000	0.77851|0.77851	0.650000|0.650000	0.86243|0.86243	GCT|GAG		0.483	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281	Missense_Mutation	11	29	1	0	2.80697e-09	1	3.82038e-09	11	29				
SERPINC1	462	broad.mit.edu	37	1	173878796	173878796	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:173878796C>A	ENST00000367698.3	-	5	1165	c.1047G>T	c.(1045-1047)gtG>gtT	p.V349V	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	349					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GCATGTGGACCACCAGCATCA	0.552																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(1045-1047)gtG>gtT		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						156.0	150.0	152.0					1																	173878796		2203	4300	6503	SO:0001819	synonymous_variant	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173878796C>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1047G>T	1.37:g.173878796C>A							p.V349V	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			5	1165	-			349					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Silent	SNP	ENST00000367698.3	37	c.1047G>T	CCDS1313.1																																																																																				0.552	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		40	64	1	0	3.54561e-26	1	5.80746e-26	40	64				
LRRC3B	116135	broad.mit.edu	37	3	26751268	26751268	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:26751268C>A	ENST00000396641.2	+	2	697	c.105C>A	c.(103-105)ccC>ccA	p.P35P	LRRC3B_ENST00000417744.1_Silent_p.P35P|AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Silent_p.P35P	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	35	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GTATGTGTCCCAAGGGCTGTC	0.443																																						ENST00000396641.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(103-105)ccC>ccA		leucine rich repeat containing 3B							178.0	165.0	170.0					3																	26751268		2203	4300	6503	SO:0001819	synonymous_variant	116135					integral to membrane		g.chr3:26751268C>A	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.105C>A	3.37:g.26751268C>A						LRRC3B_ENST00000417744.1_Silent_p.P35P|LRRC3B_ENST00000456208.2_Silent_p.P35P	p.P35P	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	697	+			35			LRRNT.		Q5M8T0	Silent	SNP	ENST00000396641.2	37	c.105C>A	CCDS2644.1																																																																																				0.443	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		17	22	1	0	8.60227e-14	1	1.3013e-13	17	22				
PHLDB1	23187	broad.mit.edu	37	11	118495765	118495765	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:118495765C>G	ENST00000361417.2	+	6	882	c.471C>G	c.(469-471)agC>agG	p.S157R	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S157R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	157										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCCTACAGCCCTGTTCCTG	0.602																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(469-471)agC>agG		pleckstrin homology-like domain, family B, member 1							60.0	61.0	61.0					11																	118495765		2200	4294	6494	SO:0001583	missense	23187							g.chr11:118495765C>G		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.471C>G	11.37:g.118495765C>G	ENSP00000354498:p.Ser157Arg					PHLDB1_ENST00000356063.5_Missense_Mutation_p.S157R	p.S157R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	6	882	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	157					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.471C>G	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946132	0.18356	.	.	ENSG00000019144	ENST00000361417;ENST00000543207;ENST00000545313;ENST00000356063	T;T	0.30714	1.52;1.52	5.75	-1.06	0.10002	.	0.971478	0.08558	N	0.927994	T	0.17492	0.0420	L	0.29908	0.895	0.34723	D	0.728961	B;B;B	0.14438	0.0;0.0;0.01	B;B;B	0.18263	0.0;0.001;0.021	T	0.31447	-0.9943	10	0.23891	T	0.37	-3.7716	2.0186	0.03504	0.2571:0.3951:0.1863:0.1615	.	157;157;157	B4DIX4;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	R	157	ENSP00000354498:S157R;ENSP00000348359:S157R	ENSP00000348359:S157R	S	+	3	2	PHLDB1	118000975	0.100000	0.21855	0.119000	0.21687	0.444000	0.32077	-0.254000	0.08781	-0.502000	0.06596	0.561000	0.74099	AGC		0.602	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		18	46	0	0	0	1	0	18	46				
EPHA6	285220	broad.mit.edu	37	3	96945243	96945243	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:96945243C>G	ENST00000389672.5	+	4	1288	c.1250C>G	c.(1249-1251)cCa>cGa	p.P417R	EPHA6_ENST00000470610.2_Missense_Mutation_p.P417R	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	323	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.P323Q(2)|p.P417Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAAAAAGACCCACCTTCTATG	0.348																																						ENST00000389672.5																			3	Substitution - Missense(3)	p.P323Q(2)|p.P417Q(1)	lung(3)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(1249-1251)cCa>cGa		EPH receptor A6							160.0	153.0	155.0					3																	96945243		1836	4084	5920	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96945243C>G	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.1250C>G	3.37:g.96945243C>G	ENSP00000374323:p.Pro417Arg					EPHA6_ENST00000470610.2_Missense_Mutation_p.P417R	p.P417R	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			4	1288	+			322			Fibronectin type-III 1.		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.1250C>G	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710049	0.89018	.	.	ENSG00000080224	ENST00000470610;ENST00000389672	D;D	0.97352	-4.35;-4.35	5.54	5.54	0.83059	.	.	.	.	.	D	0.97873	0.9301	M	0.87547	2.89	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.49799	0.622;0.622	D	0.98691	1.0696	9	0.87932	D	0	.	19.4868	0.95032	0.0:1.0:0.0:0.0	.	417;417	B3KS12;E7EU71	.;.	R	417	ENSP00000420598:P417R;ENSP00000374323:P417R	ENSP00000374323:P417R	P	+	2	0	EPHA6	98427933	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.818000	0.86416	2.607000	0.88179	0.460000	0.39030	CCA		0.348	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		15	51	0	0	0	1	0	15	51				
GPR50	9248	broad.mit.edu	37	X	150348724	150348724	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:150348724G>T	ENST00000218316.3	+	2	738	c.669G>T	c.(667-669)ggG>ggT	p.G223G	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	223					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTGCAGGGCAGAATCCTG	0.532																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(667-669)ggG>ggT		G protein-coupled receptor 50							162.0	145.0	151.0					X																	150348724		2054	4183	6237	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348724G>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.669G>T	X.37:g.150348724G>T							p.G223G	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	738	+	Acute lymphoblastic leukemia(192;6.56e-05)		223					Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.669G>T	CCDS44012.1																																																																																				0.532	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		33	22	1	0	4.74835e-14	1	7.20597e-14	33	22				
EXO5	64789	broad.mit.edu	37	1	40981148	40981148	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:40981148A>T	ENST00000372703.1	+	2	2006	c.932A>T	c.(931-933)aAa>aTa	p.K311I	EXO5_ENST00000358527.2_Missense_Mutation_p.K311I|RP11-656D10.6_ENST00000437060.1_RNA|EXO5_ENST00000296380.4_Missense_Mutation_p.K311I|RP11-656D10.5_ENST00000453437.1_RNA			Q9H790	EXO5_HUMAN	exonuclease 5	311					DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297)	cytosol (GO:0005829)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)	p.K311fs*25(1)									GTAGCCTTCAAAGAGAAGGAG	0.517																																						ENST00000372703.1																			1	Deletion - Frameshift(1)	p.K311fs*25(1)	large_intestine(1)								c.(931-933)aAa>aTa		exonuclease 5							101.0	90.0	93.0					1																	40981148		2203	4300	6503	SO:0001583	missense	64789							g.chr1:40981148A>T	AK024797	CCDS453.1	1p34.2	2012-11-02	2012-10-30	2012-10-30	ENSG00000164002	ENSG00000164002			26115	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 176"", ""defects in morphology 1 homolog (S. cerevisiae)"""	C1orf176, DEM1		23095756	Standard	NM_022774		Approved	FLJ21144	uc001cfp.3	Q9H790	OTTHUMG00000007305	ENST00000372703.1:c.932A>T	1.37:g.40981148A>T	ENSP00000361788:p.Lys311Ile					EXO5_ENST00000296380.4_Missense_Mutation_p.K311I|EXO5_ENST00000358527.2_Missense_Mutation_p.K311I	p.K311I							2	2006	+								D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9	Missense_Mutation	SNP	ENST00000372703.1	37	c.932A>T	CCDS453.1	.	.	.	.	.	.	.	.	.	.	A	8.542	0.873594	0.17322	.	.	ENSG00000164002	ENST00000358527;ENST00000372703;ENST00000296380	T;T;T	0.32272	1.46;1.46;1.46	5.16	4.02	0.46733	.	0.341780	0.22113	N	0.064449	T	0.16128	0.0388	N	0.08118	0	0.20638	N	0.99987	B	0.02656	0.0	B	0.06405	0.002	T	0.17531	-1.0366	10	0.72032	D	0.01	.	9.2176	0.37358	0.8172:0.1828:0.0:0.0	.	311	Q9H790	EXO5_HUMAN	I	311	ENSP00000351328:K311I;ENSP00000361788:K311I;ENSP00000296380:K311I	ENSP00000296380:K311I	K	+	2	0	DEM1	40753735	1.000000	0.71417	0.994000	0.49952	0.036000	0.12997	3.928000	0.56506	1.080000	0.41073	0.528000	0.53228	AAA		0.517	EXO5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019087.1	NM_022774		21	30	0	0	0	1	0	21	30				
HIST1H4D	8360	broad.mit.edu	37	6	26189018	26189018	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:26189018C>A	ENST00000340756.2	-	1	286	c.287G>T	c.(286-288)cGc>cTc	p.R96L		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	96					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				ATAAAGAGTGCGTCCCTGGCG	0.547																																						ENST00000340756.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8						c.(286-288)cGc>cTc		histone cluster 1, H4d							125.0	107.0	113.0					6																	26189018		2203	4300	6503	SO:0001583	missense	8360				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26189018C>A	X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.287G>T	6.37:g.26189018C>A	ENSP00000343282:p.Arg96Leu						p.R96L	NM_003539.3	NP_003530.1	P62805	H4_HUMAN			1	286	-		all_hematologic(11;0.196)	96					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000340756.2	37	c.287G>T	CCDS4589.1	.	.	.	.	.	.	.	.	.	.	.	24.9	4.586797	0.86851	.	.	ENSG00000188987	ENST00000340756	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	.	.	.	0.50467	D	0.999877	.	.	.	.	.	.	T	0.76583	-0.2906	6	0.87932	D	0	.	17.9848	0.89153	0.0:1.0:0.0:0.0	.	.	.	.	L	96	.	ENSP00000343282:R96L	R	-	2	0	HIST1H4D	26296997	1.000000	0.71417	0.995000	0.50966	0.056000	0.15407	7.363000	0.79516	2.494000	0.84150	0.650000	0.86243	CGC		0.547	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040085.1	NM_003539		7	40	1	0	5.18039e-06	1	6.29331e-06	7	40				
TNXB	7148	broad.mit.edu	37	6	32036354	32036354	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:32036354C>A	ENST00000375244.3	-	17	6234	c.6033G>T	c.(6031-6033)gaG>gaT	p.E2011D	TNXB_ENST00000375247.2_Missense_Mutation_p.E2011D			P22105	TENX_HUMAN	tenascin XB	2093	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAAACTGTCCCTCGGGAACTG	0.652																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(6031-6033)gaG>gaT		tenascin XB							44.0	48.0	47.0					6																	32036354		2009	4161	6170	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32036354C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.6033G>T	6.37:g.32036354C>A	ENSP00000364393:p.Glu2011Asp					TNXB_ENST00000375247.2_Missense_Mutation_p.E2011D	p.E2011D			P22105	TENX_HUMAN			17	6234	-			2093			Fibronectin type-III 12.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.6033G>T		.	.	.	.	.	.	.	.	.	.	C	14.05	2.420389	0.42918	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.56275	0.47;0.47	5.33	3.56	0.40772	.	0.264049	0.27064	N	0.021116	T	0.40839	0.1133	L	0.47190	1.495	0.24613	N	0.993714	D	0.71674	0.998	D	0.80764	0.994	T	0.17961	-1.0352	10	0.19147	T	0.46	.	5.1463	0.14987	0.1639:0.6632:0.0:0.1729	.	2011	P22105-3	.	D	2011	ENSP00000364393:E2011D;ENSP00000364396:E2011D	ENSP00000364393:E2011D	E	-	3	2	TNXB	32144332	0.433000	0.25562	0.995000	0.50966	0.323000	0.28346	0.538000	0.23160	0.647000	0.30713	0.655000	0.94253	GAG		0.652	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		12	39	1	0	0.000978159	1	0.00108052	12	39				
PLEK2	26499	broad.mit.edu	37	14	67859513	67859513	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:67859513C>A	ENST00000216446.4	-	5	675	c.535G>T	c.(535-537)Gag>Tag	p.E179*		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	179	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GTCACCGCCTCCAGACGGCTG	0.642																																						ENST00000216446.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15						c.(535-537)Gag>Tag		pleckstrin 2							35.0	32.0	33.0					14																	67859513		2203	4300	6503	SO:0001587	stop_gained	26499				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		g.chr14:67859513C>A	AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"""Pleckstrin homology (PH) domain containing"""	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.535G>T	14.37:g.67859513C>A	ENSP00000216446:p.Glu179*						p.E179*	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	5	675	-			179			DEP.		Q96JT0	Nonsense_Mutation	SNP	ENST00000216446.4	37	c.535G>T	CCDS9782.1	.	.	.	.	.	.	.	.	.	.	C	38	7.254057	0.98168	.	.	ENSG00000100558	ENST00000216446;ENST00000554395	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-16.5898	17.9497	0.89048	0.0:1.0:0.0:0.0	.	.	.	.	X	179;113	.	ENSP00000216446:E179X	E	-	1	0	PLEK2	66929266	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.175000	0.77632	2.689000	0.91719	0.462000	0.41574	GAG		0.642	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2			8	17	1	0	0.000157383	1	0.00018101	8	17				
C12orf60	144608	broad.mit.edu	37	12	14975882	14975882	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:14975882T>A	ENST00000330828.2	+	2	217	c.13T>A	c.(13-15)Tca>Aca	p.S5T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	5										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GTCTTCAGAGTCAGAAAAGGA	0.353																																						ENST00000330828.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						c.(13-15)Tca>Aca		chromosome 12 open reading frame 60							83.0	84.0	84.0					12																	14975882		2203	4300	6503	SO:0001583	missense	144608							g.chr12:14975882T>A	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.13T>A	12.37:g.14975882T>A	ENSP00000331691:p.Ser5Thr					C12orf60_ENST00000527783.1_Intron	p.S5T	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN			2	217	+			5					A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	c.13T>A	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	T	4.958	0.177896	0.09443	.	.	ENSG00000182993	ENST00000330828	T	0.32272	1.46	5.19	-1.4	0.08968	.	0.421745	0.17743	N	0.163504	T	0.18467	0.0443	L	0.36672	1.1	0.09310	N	0.999997	B	0.22909	0.077	B	0.27715	0.082	T	0.21075	-1.0256	10	0.87932	D	0	2.8787	1.0936	0.01668	0.1437:0.2213:0.1486:0.4864	.	5	Q5U649	CL060_HUMAN	T	5	ENSP00000331691:S5T	ENSP00000331691:S5T	S	+	1	0	C12orf60	14867149	0.139000	0.22563	0.062000	0.19696	0.157000	0.22087	0.175000	0.16762	-0.405000	0.07599	-0.379000	0.06801	TCA		0.353	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874		31	18	0	0	0	1	0	31	18				
BAIAP3	8938	broad.mit.edu	37	16	1396190	1396190	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:1396190A>G	ENST00000324385.5	+	25	2584	c.2426A>G	c.(2425-2427)aAt>aGt	p.N809S	BAIAP3_ENST00000426824.3_Missense_Mutation_p.N774S|BAIAP3_ENST00000421665.2_Missense_Mutation_p.N738S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.N791S|BAIAP3_ENST00000562208.1_Missense_Mutation_p.N751S|BAIAP3_ENST00000397488.2_Missense_Mutation_p.N791S|BAIAP3_ENST00000568887.1_Missense_Mutation_p.N746S	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	809					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GTCCTCAACAATGTGGAGCTC	0.716																																						ENST00000324385.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2425-2427)aAt>aGt		BAI1-associated protein 3							25.0	30.0	28.0					16																	1396190		2195	4297	6492	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1396190A>G	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2426A>G	16.37:g.1396190A>G	ENSP00000324510:p.Asn809Ser					BAIAP3_ENST00000397488.2_Missense_Mutation_p.N791S|BAIAP3_ENST00000426824.3_Missense_Mutation_p.N774S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.N791S|BAIAP3_ENST00000421665.2_Missense_Mutation_p.N738S|BAIAP3_ENST00000568887.1_Missense_Mutation_p.N746S|BAIAP3_ENST00000562208.1_Missense_Mutation_p.N751S	p.N809S	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN			25	2584	+		Hepatocellular(780;0.0893)	809					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.2426A>G	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.227521	0.39399	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	D;D;D;D;D	0.83419	-1.68;-1.72;-1.71;-1.72;-1.66	4.5	4.5	0.54988	.	0.272198	0.40144	N	0.001176	T	0.76652	0.4017	L	0.43152	1.355	0.40735	D	0.982784	B;B;B;B	0.24043	0.084;0.04;0.056;0.096	B;B;B;B	0.20384	0.029;0.019;0.01;0.019	T	0.75693	-0.3229	10	0.56958	D	0.05	-14.6275	11.7412	0.51794	1.0:0.0:0.0:0.0	.	738;751;809;791	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	S	774;791;809;791;738	ENSP00000407242:N774S;ENSP00000380625:N791S;ENSP00000324510:N809S;ENSP00000380626:N791S;ENSP00000409533:N738S	ENSP00000324510:N809S	N	+	2	0	BAIAP3	1336191	0.900000	0.30661	0.983000	0.44433	0.980000	0.70556	2.115000	0.41921	1.662000	0.50781	0.402000	0.26972	AAT		0.716	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3			21	18	0	0	0	1	0	21	18				
CCSER2	54462	broad.mit.edu	37	10	86237392	86237392	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:86237392A>G	ENST00000224756.8	+	9	2482	c.2297A>G	c.(2296-2298)tAt>tGt	p.Y766C	CCSER2_ENST00000372088.2_Missense_Mutation_p.Y766C|CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000543283.1_Missense_Mutation_p.Y193C	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	766					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											GCTGATAAATATACCCAAACA	0.338																																						ENST00000224756.8																			0											c.(2296-2298)tAt>tGt		coiled-coil serine-rich protein 2							103.0	98.0	100.0					10																	86237392		2203	4300	6503	SO:0001583	missense	54462							g.chr10:86237392A>G		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2297A>G	10.37:g.86237392A>G	ENSP00000224756:p.Tyr766Cys					CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000372088.2_Missense_Mutation_p.Y766C|CCSER2_ENST00000543283.1_Missense_Mutation_p.Y193C	p.Y766C	NM_018999.2	NP_061872.2					9	2482	+								B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.2297A>G	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298163	0.60195	.	.	ENSG00000107771	ENST00000224756;ENST00000372088;ENST00000543283	T;T;T	0.23552	2.21;2.2;1.9	5.75	4.6	0.57074	.	0.367312	0.26122	N	0.026211	T	0.38665	0.1049	L	0.44542	1.39	0.37740	D	0.925593	D;D	0.71674	0.998;0.997	D;P	0.63877	0.919;0.875	T	0.36625	-0.9740	10	0.66056	D	0.02	-16.4156	10.871	0.46883	0.8592:0.0:0.0:0.1408	.	766;766	Q9H7U1-3;Q9H7U1	.;F190B_HUMAN	C	766;766;193	ENSP00000224756:Y766C;ENSP00000361160:Y766C;ENSP00000439944:Y193C	ENSP00000224756:Y766C	Y	+	2	0	FAM190B	86227372	0.932000	0.31603	0.998000	0.56505	0.997000	0.91878	1.762000	0.38451	1.077000	0.40990	0.467000	0.42956	TAT		0.338	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		4	5	0	0	0	1	0	4	5				
OR52L1	338751	broad.mit.edu	37	11	6007754	6007754	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:6007754A>T	ENST00000332249.4	-	1	461	c.407T>A	c.(406-408)aTg>aAg	p.M136K		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCCAGAGCCATGGCCACAAG	0.537																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(406-408)aTg>aAg		olfactory receptor, family 52, subfamily L, member 1							43.0	44.0	44.0					11																	6007754		2086	4226	6312	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007754A>T	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.407T>A	11.37:g.6007754A>T	ENSP00000330338:p.Met136Lys						p.M136K	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	461	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	136					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.407T>A	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173577	0.57584	.	.	ENSG00000183313	ENST00000332249	T	0.00464	7.24	2.97	2.97	0.34412	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000141	T	0.02267	0.0070	H	0.98089	4.145	0.48236	D	0.999618	D	0.55800	0.973	D	0.64042	0.921	T	0.03296	-1.1051	10	0.87932	D	0	.	10.2936	0.43610	1.0:0.0:0.0:0.0	.	136	Q8NGH7	O52L1_HUMAN	K	136	ENSP00000330338:M136K	ENSP00000330338:M136K	M	-	2	0	OR52L1	5964330	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	8.550000	0.90675	1.357000	0.45904	0.260000	0.18958	ATG		0.537	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		3	11	0	0	0	1	0	3	11				
F5	2153	broad.mit.edu	37	1	169510536	169510536	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:169510536C>T	ENST00000367797.3	-	13	3993	c.3792G>A	c.(3790-3792)caG>caA	p.Q1264Q	F5_ENST00000367796.3_Silent_p.Q1269Q	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1264	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AAAGGTTTGTCTGACTGAGTT	0.507																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3805-3807)caG>caA		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						209.0	225.0	219.0					1																	169510536		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510536C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3792G>A	1.37:g.169510536C>T						F5_ENST00000367797.3_Silent_p.Q1264Q	p.Q1269Q			P12259	FA5_HUMAN			13	4008	-	all_hematologic(923;0.208)		1264			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.3807G>A	CCDS1281.1																																																																																				0.507	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		83	138	0	0	0	1	0	83	138				
CNTNAP2	26047	broad.mit.edu	37	7	147844614	147844614	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:147844614G>T	ENST00000361727.3	+	17	3102	c.2586G>T	c.(2584-2586)gtG>gtT	p.V862V	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	862	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CATTTGATGTGGGAAATGGGC	0.483										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2584-2586)gtG>gtT		contactin associated protein-like 2							142.0	140.0	140.0					7																	147844614		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147844614G>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2586G>T	7.37:g.147844614G>T		HNSCC(39;0.1)				CNTNAP2_ENST00000538075.1_5'UTR	p.V862V	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		17	3102	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	862			Laminin G-like 3.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2586G>T	CCDS5889.1																																																																																				0.483	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			40	60	1	0	5.44703e-19	1	8.59581e-19	40	60				
UBXN2A	165324	broad.mit.edu	37	2	24181170	24181170	+	Splice_Site	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:24181170G>T	ENST00000309033.4	+	2	230		c.e2-1		UBXN2A_ENST00000535786.1_Splice_Site|UBXN2A_ENST00000446425.2_Splice_Site|UBXN2A_ENST00000404924.1_Splice_Site	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A						regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						TACTTTTACAGTAAGGCGAAA	0.279																																						ENST00000309033.4																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						c.e2-1		UBX domain protein 2A							119.0	122.0	120.0					2																	24181170		2203	4297	6500	SO:0001630	splice_region_variant	165324							g.chr2:24181170G>T	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.-14-1G>T	2.37:g.24181170G>T						UBXN2A_ENST00000404924.1_Splice_Site|UBXN2A_ENST00000535786.1_Splice_Site|UBXN2A_ENST00000446425.2_Splice_Site		NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN			2	230	+								A8K577|B7ZKP8|Q569G8	Splice_Site	SNP	ENST00000309033.4	37		CCDS1704.1																																																																																				0.279	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713	Intron	4	13	1	0	0.150653	1	0.153563	4	13				
ASCL1	429	broad.mit.edu	37	12	103352431	103352431	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:103352431G>T	ENST00000266744.3	+	1	968	c.409G>T	c.(409-411)Ggc>Tgc	p.G137C		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	137	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						GGTCAACCTGGGCTTTGCCAC	0.667																																						ENST00000266744.3																			0				NS(3)|large_intestine(1)|lung(1)	5						c.(409-411)Ggc>Tgc		achaete-scute family bHLH transcription factor 1							36.0	30.0	32.0					12																	103352431		2203	4300	6503	SO:0001583	missense	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352431G>T	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.409G>T	12.37:g.103352431G>T	ENSP00000266744:p.Gly137Cys						p.G137C	NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN			1	968	+			137			Helix-loop-helix motif.		A8K3C4|Q9BQ30	Missense_Mutation	SNP	ENST00000266744.3	37	c.409G>T	CCDS31886.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836774	0.71373	.	.	ENSG00000139352	ENST00000266744	D	0.97831	-4.56	4.17	4.17	0.49024	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000001	D	0.98573	0.9523	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99755	1.1019	10	0.87932	D	0	-18.0359	15.6095	0.76704	0.0:0.0:1.0:0.0	.	137	P50553	ASCL1_HUMAN	C	137	ENSP00000266744:G137C	ENSP00000266744:G137C	G	+	1	0	ASCL1	101876561	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.579000	0.82511	2.028000	0.59812	0.462000	0.41574	GGC		0.667	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			13	30	1	0	4.3838e-07	1	5.53805e-07	13	30				
HAPLN4	404037	broad.mit.edu	37	19	19368833	19368833	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:19368833G>C	ENST00000291481.7	-	5	1065	c.1002C>G	c.(1000-1002)aaC>aaG	p.N334K	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	334	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GCGCTCGCGGGTTCACGATGG	0.716																																						ENST00000291481.7																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(1000-1002)aaC>aaG		hyaluronan and proteoglycan link protein 4							4.0	5.0	5.0					19																	19368833		1963	3981	5944	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19368833G>C	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.1002C>G	19.37:g.19368833G>C	ENSP00000291481:p.Asn334Lys					AC138430.4_ENST00000586064.2_RNA	p.N334K	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		5	1065	-			334			Link 2.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.1002C>G	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.766672	0.00651	.	.	ENSG00000187664	ENST00000291481	T	0.06608	3.28	4.01	-0.756	0.11057	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.056792	0.64402	N	0.000003	T	0.03095	0.0091	N	0.19112	0.55	0.40543	D	0.981048	B	0.18166	0.026	B	0.17098	0.017	T	0.49597	-0.8923	10	0.02654	T	1	-17.7336	9.0753	0.36517	0.4843:0.0:0.5157:0.0	.	334	Q86UW8	HPLN4_HUMAN	K	334	ENSP00000291481:N334K	ENSP00000291481:N334K	N	-	3	2	HAPLN4	19229833	0.977000	0.34250	0.986000	0.45419	0.247000	0.25773	0.166000	0.16583	-0.547000	0.06207	-1.579000	0.00862	AAC		0.716	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		4	9	0	0	0	1	0	4	9				
KRTAP5-2	440021	broad.mit.edu	37	11	1619393	1619393	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:1619393C>T	ENST00000412090.1	-	1	131	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	30						keratin filament (GO:0045095)		p.G30S(1)		large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAGCCACAGCCCCCACAGCCA	0.672																																						ENST00000412090.1																			1	Substitution - Missense(1)	p.G30S(1)	skin(1)	large_intestine(1)|lung(2)|skin(1)	4						c.(88-90)Ggc>Agc		keratin associated protein 5-2							31.0	40.0	37.0					11																	1619393		2188	4275	6463	SO:0001583	missense	440021					keratin filament		g.chr11:1619393C>T	AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.88G>A	11.37:g.1619393C>T	ENSP00000400041:p.Gly30Ser					KRTAP5-AS1_ENST00000424148.1_RNA	p.G30S	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	131	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	30					A9JTZ1	Missense_Mutation	SNP	ENST00000412090.1	37	c.88G>A	CCDS31331.1	.	.	.	.	.	.	.	.	.	.	c	10.61	1.397321	0.25205	.	.	ENSG00000205867	ENST00000412090	T	0.01313	5.02	2.46	2.46	0.29980	.	.	.	.	.	T	0.03959	0.0111	L	0.46741	1.465	0.26923	N	0.966634	D	0.76494	0.999	D	0.74023	0.982	T	0.29336	-1.0015	9	0.08179	T	0.78	.	11.1461	0.48432	0.0:1.0:0.0:0.0	.	30	Q701N4	KRA52_HUMAN	S	30	ENSP00000400041:G30S	ENSP00000400041:G30S	G	-	1	0	KRTAP5-2	1575969	0.009000	0.17119	0.983000	0.44433	0.656000	0.38851	0.153000	0.16323	1.367000	0.46095	0.289000	0.19496	GGC		0.672	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325		56	104	0	0	0	1	0	56	104				
GPR98	84059	broad.mit.edu	37	5	90106414	90106414	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:90106414C>G	ENST00000405460.2	+	74	15433	c.15337C>G	c.(15337-15339)Ctg>Gtg	p.L5113V	GPR98_ENST00000425867.2_Missense_Mutation_p.L774V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5113					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGCCCACGCCTGAATCTAGA	0.378																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(15337-15339)Ctg>Gtg		G protein-coupled receptor 98							136.0	135.0	135.0					5																	90106414		1850	4098	5948	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106414C>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15337C>G	5.37:g.90106414C>G	ENSP00000384582:p.Leu5113Val					GPR98_ENST00000425867.2_Missense_Mutation_p.L774V	p.L5113V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15433	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5113					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.15337C>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023921	0.35701	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.34275	1.37;1.37	5.37	4.42	0.53409	.	0.065555	0.64402	D	0.000011	T	0.49270	0.1547	M	0.63843	1.955	0.38888	D	0.957044	D;D;D	0.76494	0.986;0.999;0.992	P;D;P	0.78314	0.721;0.991;0.855	T	0.54111	-0.8342	9	.	.	.	.	3.3284	0.07075	0.0:0.4574:0.0:0.5426	.	774;5113;774	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	V	5113;5113;774	ENSP00000384582:L5113V;ENSP00000392618:L774V	.	L	+	1	2	GPR98	90142170	0.993000	0.37304	1.000000	0.80357	0.947000	0.59692	1.036000	0.30228	1.312000	0.45043	0.563000	0.77884	CTG		0.378	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		15	46	0	0	0	1	0	15	46				
LRRIQ1	84125	broad.mit.edu	37	12	85449885	85449885	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:85449885C>T	ENST00000393217.2	+	8	1375	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	438										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGATGTTCTCCTTTGGCTAG	0.289																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(1312-1314)ctC>ctT		leucine-rich repeats and IQ motif containing 1							73.0	83.0	80.0					12																	85449885		2200	4293	6493	SO:0001819	synonymous_variant	84125							g.chr12:85449885C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1314C>T	12.37:g.85449885C>T							p.L438L	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	1375	+			438					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.1314C>T	CCDS41816.1																																																																																				0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		11	23	0	0	0	1	0	11	23				
SNTG1	54212	broad.mit.edu	37	8	51705285	51705285	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:51705285G>C	ENST00000522124.1	+	19	2111	c.1450G>C	c.(1450-1452)Gct>Cct	p.A484P	SNTG1_ENST00000517473.1_Missense_Mutation_p.A447P|SNTG1_ENST00000518864.1_Missense_Mutation_p.A484P|SNTG1_ENST00000276467.5_Missense_Mutation_p.A447P	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	484					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTCCTTCTTTGCTGCCAAGGT	0.398																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(1450-1452)Gct>Cct		syntrophin, gamma 1							198.0	189.0	192.0					8																	51705285		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51705285G>C	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1450G>C	8.37:g.51705285G>C	ENSP00000429842:p.Ala484Pro					SNTG1_ENST00000518864.1_Missense_Mutation_p.A484P|SNTG1_ENST00000276467.5_Missense_Mutation_p.A447P|SNTG1_ENST00000517473.1_Missense_Mutation_p.A447P	p.A484P	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			19	2111	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	484					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1450G>C	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054085	0.93793	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.32023	1.47;1.47;1.54;1.54	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.56217	0.1970	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.987	T	0.55667	-0.8105	10	0.56958	D	0.05	-17.6781	18.498	0.90872	0.0:0.0:1.0:0.0	.	447;484	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	P	484;484;447;447	ENSP00000429276:A484P;ENSP00000429842:A484P;ENSP00000431123:A447P;ENSP00000276467:A447P	ENSP00000276467:A447P	A	+	1	0	SNTG1	51867838	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.775000	0.91772	2.615000	0.88500	0.637000	0.83480	GCT		0.398	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			12	44	0	0	0	1	0	12	44				
PLXNA1	5361	broad.mit.edu	37	3	126708551	126708551	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:126708551G>C	ENST00000393409.2	+	1	1115	c.1115G>C	c.(1114-1116)cGc>cCc	p.R372P	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R349P	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	372	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ATTAAGGAGCGCATCCAGTCC	0.612																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(1045-1047)cGc>cCc		plexin A1							92.0	84.0	87.0					3																	126708551		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126708551G>C	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1115G>C	3.37:g.126708551G>C	ENSP00000377061:p.Arg372Pro					PLXNA1_ENST00000393409.2_Missense_Mutation_p.R372P	p.R349P			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	1115	+			372			Sema.			Missense_Mutation	SNP	ENST00000393409.2	37	c.1046G>C	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016992	0.75161	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.11821	2.74;2.74	4.0	4.0	0.46444	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.64402	D	0.000002	T	0.43277	0.1240	M	0.86343	2.81	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.54957	-0.8215	10	0.66056	D	0.02	.	16.2802	0.82672	0.0:0.0:1.0:0.0	.	372	Q9UIW2	PLXA1_HUMAN	P	372;349	ENSP00000377061:R372P;ENSP00000251772:R349P	ENSP00000251772:R349P	R	+	2	0	PLXNA1	128191241	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.539000	0.98076	2.078000	0.62432	0.491000	0.48974	CGC		0.612	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		29	110	0	0	0	1	0	29	110				
NAALADL2	254827	broad.mit.edu	37	3	175520961	175520961	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:175520961G>A	ENST00000454872.1	+	14	2486	c.2358G>A	c.(2356-2358)gtG>gtA	p.V786V		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	786						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GACTTGATGTGTTCAAGAGTG	0.388																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.(2356-2358)gtG>gtA		N-acetylated alpha-linked acidic dipeptidase-like 2							104.0	97.0	100.0					3																	175520961		1831	4077	5908	SO:0001819	synonymous_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175520961G>A		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.2358G>A	3.37:g.175520961G>A							p.V786V	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	14	2486	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	786					Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	ENST00000454872.1	37	c.2358G>A	CCDS46960.1																																																																																				0.388	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		3	12	0	0	0	1	0	3	12				
AKAP8	10270	broad.mit.edu	37	19	15483734	15483734	+	Silent	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:15483734C>G	ENST00000269701.2	-	5	849	c.789G>C	c.(787-789)ggG>ggC	p.G263G		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	263					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGCCGCCCGCCCCCTGCATGC	0.701																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(787-789)ggG>ggC		A kinase (PRKA) anchor protein 8							18.0	20.0	19.0					19																	15483734		2202	4298	6500	SO:0001819	synonymous_variant	10270				signal transduction	nuclear matrix		g.chr19:15483734C>G	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.789G>C	19.37:g.15483734C>G							p.G263G	NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN			5	849	-			263						Silent	SNP	ENST00000269701.2	37	c.789G>C	CCDS12329.1																																																																																				0.701	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		8	15	0	0	0	1	0	8	15				
NSD1	64324	broad.mit.edu	37	5	176710873	176710873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:176710873G>A	ENST00000439151.2	+	20	6140	c.6095G>A	c.(6094-6096)tGg>tAg	p.W2032*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.W1929*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.W1763*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.W1763*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2032	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACACAGAAGTGGTCTGTGAAT	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	GRCh37	CM074965	NSD1	M		c.(6094-6096)tGg>tAg		nuclear receptor binding SET domain protein 1							166.0	160.0	162.0					5																	176710873		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176710873G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6095G>A	5.37:g.176710873G>A	ENSP00000395929:p.Trp2032*	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Nonsense_Mutation_p.W1929*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.W1763*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.W1763*	p.W2032*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	20	6140	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2032			SET.		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.6095G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	46	12.331861	0.99658	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5951	0.95533	0.0:0.0:1.0:0.0	.	.	.	.	X	1763;2032;1763;1929	.	ENSP00000343209:W1763X	W	+	2	0	NSD1	176643479	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.814000	0.99346	2.705000	0.92388	0.591000	0.81541	TGG		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		26	44	0	0	0	1	0	26	44				
IFI44	10561	broad.mit.edu	37	1	79119927	79119927	+	Splice_Site	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:79119927G>C	ENST00000370747.4	+	3	542		c.e3-1		IFI44_ENST00000495254.1_Splice_Site|IFI44_ENST00000545124.1_Splice_Site	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44						response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TATTTCCCCAGATTCACTGGA	0.303																																						ENST00000370747.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.e3-1		interferon-induced protein 44							81.0	81.0	81.0					1																	79119927		2203	4299	6502	SO:0001630	splice_region_variant	10561				response to virus	cytoplasm		g.chr1:79119927G>C	D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.458-1G>C	1.37:g.79119927G>C						IFI44_ENST00000545124.1_Splice_Site|IFI44_ENST00000495254.1_Splice_Site		NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN			3	542	+								B7ZAG3|D3DQ80|Q14496	Splice_Site	SNP	ENST00000370747.4	37		CCDS688.1	.	.	.	.	.	.	.	.	.	.	G	6.022	0.372501	0.11409	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	.	.	.	4.27	3.37	0.38596	.	.	.	.	.	.	.	.	.	.	.	0.37683	D	0.923559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1978	0.31407	0.1074:0.0:0.8926:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFI44	78892515	0.874000	0.30092	0.054000	0.19295	0.000000	0.00434	1.826000	0.39092	1.392000	0.46585	-0.259000	0.10710	.		0.303	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026825.1	NM_006417	Intron	7	10	0	0	0	1	0	7	10				
OR1E2	8388	broad.mit.edu	37	17	3337109	3337109	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:3337109G>C	ENST00000248384.1	-	1	26	c.27C>G	c.(25-27)atC>atG	p.I9M		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	9					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)	p.I9I(1)		endometrium(3)|large_intestine(3)|lung(3)	9						GGAAGTCTGAGATGCTGGTTT	0.458																																						ENST00000248384.1																			1	Substitution - coding silent(1)	p.I9I(1)	large_intestine(1)	endometrium(3)|large_intestine(3)|lung(3)	9						c.(25-27)atC>atG		olfactory receptor, family 1, subfamily E, member 2							48.0	52.0	50.0					17																	3337109		2202	4297	6499	SO:0001583	missense	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3337109G>C	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.27C>G	17.37:g.3337109G>C	ENSP00000248384:p.Ile9Met						p.I9M	NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN			1	26	-			9					O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	c.27C>G	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	G	9.003	0.980544	0.18812	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.00325	8.1	5.34	2.02	0.26589	.	0.979390	0.08375	N	0.955399	T	0.00210	0.0006	L	0.44542	1.39	0.09310	N	1	B	0.25904	0.137	B	0.25884	0.064	T	0.31052	-0.9957	10	0.48119	T	0.1	.	4.4636	0.11678	0.2618:0.0:0.5821:0.1561	.	9	P47887	OR1E2_HUMAN	M	9;8	ENSP00000248384:I9M	ENSP00000248384:I9M	I	-	3	3	OR1E2	3283859	0.000000	0.05858	0.026000	0.17262	0.109000	0.19521	-1.158000	0.03153	0.716000	0.32124	0.580000	0.79431	ATC		0.458	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			14	35	0	0	0	1	0	14	35				
MCF2	4168	broad.mit.edu	37	X	138714555	138714555	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:138714555T>A	ENST00000370576.4	-	2	319	c.110A>T	c.(109-111)cAa>cTa	p.Q37L	MCF2_ENST00000520602.1_Missense_Mutation_p.Q97L|MCF2_ENST00000519895.1_Missense_Mutation_p.Q97L|MCF2_ENST00000536274.1_Missense_Mutation_p.Q37L|MCF2_ENST00000370578.4_Missense_Mutation_p.Q182L|MCF2_ENST00000370573.4_Missense_Mutation_p.Q37L|MCF2_ENST00000338585.6_Missense_Mutation_p.Q37L|MCF2_ENST00000414978.1_Missense_Mutation_p.Q97L	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	37	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GAACGTTCGTTGAAGAAAGCT	0.348																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(289-291)cAa>cTa		MCF.2 cell line derived transforming sequence							91.0	89.0	89.0					X																	138714555		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138714555T>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.110A>T	X.37:g.138714555T>A	ENSP00000359608:p.Gln37Leu					MCF2_ENST00000370573.4_Missense_Mutation_p.Q37L|MCF2_ENST00000370576.4_Missense_Mutation_p.Q37L|MCF2_ENST00000536274.1_Missense_Mutation_p.Q37L|MCF2_ENST00000370578.4_Missense_Mutation_p.Q182L|MCF2_ENST00000519895.1_Missense_Mutation_p.Q97L|MCF2_ENST00000338585.6_Missense_Mutation_p.Q37L|MCF2_ENST00000414978.1_Missense_Mutation_p.Q97L	p.Q97L			P10911	MCF2_HUMAN			5	575	-	Acute lymphoblastic leukemia(192;0.000127)		37					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.290A>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513004	0.85389	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;0.62;-0.05;-0.05;-0.05;-0.05;-0.05	5.23	5.23	0.72850	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.050427	0.85682	D	0.000000	T	0.80864	0.4705	M	0.87827	2.91	0.47476	D	0.999437	D;D;D;D;D;D;D;D	0.76494	0.999;0.989;0.999;0.999;0.999;0.999;0.986;0.999	D;D;D;D;D;D;D;D	0.81914	0.995;0.953;0.991;0.995;0.991;0.995;0.921;0.995	D	0.84440	0.0582	10	0.87932	D	0	.	13.1811	0.59655	0.0:0.0:0.0:1.0	.	97;182;37;37;37;182;37;37	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	L	97;37;37;182;97;97;37;37	ENSP00000427745:Q97L;ENSP00000359608:Q37L;ENSP00000438155:Q37L;ENSP00000359610:Q182L;ENSP00000397055:Q97L;ENSP00000430276:Q97L;ENSP00000359605:Q37L;ENSP00000342204:Q37L	ENSP00000342204:Q37L	Q	-	2	0	MCF2	138542221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.641000	0.67881	1.858000	0.53909	0.430000	0.28490	CAA		0.348	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		12	8	0	0	0	1	0	12	8				
CSMD3	114788	broad.mit.edu	37	8	113529454	113529454	+	Splice_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:113529454C>A	ENST00000297405.5	-	28	4809	c.4565G>T	c.(4564-4566)aGt>aTt	p.S1522I	CSMD3_ENST00000455883.2_Splice_Site_p.S1418I|CSMD3_ENST00000343508.3_Splice_Site_p.S1482I|CSMD3_ENST00000352409.3_Splice_Site_p.S1522I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1522	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCAACAGAACCTATCAAAAG	0.393										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.e28-1		CUB and Sushi multiple domains 3							40.0	37.0	38.0					8																	113529454		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113529454C>A	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.4565-1G>T	8.37:g.113529454C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Splice_Site_p.S1418_splice|CSMD3_ENST00000343508.3_Splice_Site_p.S1482_splice|CSMD3_ENST00000352409.3_Splice_Site_p.S1522_splice	p.S1522_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			28	4809	-			1522			CUB 8.		Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.4564_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350842	0.82132	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	4.56	4.56	0.56223	CUB (4);	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	L	0.60455	1.87	0.44643	D	0.997625	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.91635	0.999;0.993;0.988	T	0.73464	-0.3974	10	0.45353	T	0.12	.	17.5002	0.87728	0.0:1.0:0.0:0.0	.	1418;1522;1482	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	1482;1522;862;1418;1522	ENSP00000345799:S1482I;ENSP00000297405:S1522I;ENSP00000341558:S862I;ENSP00000412263:S1418I;ENSP00000343124:S1522I	ENSP00000297405:S1522I	S	-	2	0	CSMD3	113598630	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.540000	0.53611	2.339000	0.79563	0.585000	0.79938	AGT		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	4	14	1	0	0.150653	1	0.153563	4	14				
TNP2	7142	broad.mit.edu	37	16	11363039	11363039	+	Silent	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:11363039G>C	ENST00000312693.3	-	1	150	c.81C>G	c.(79-81)acC>acG	p.T27T	RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)	27					acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						GGCAATGGCGGGTGCAGGTGC	0.622																																						ENST00000312693.3																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						c.(79-81)acC>acG		transition protein 2 (during histone to protamine replacement)							113.0	128.0	123.0					16																	11363039		2072	4206	6278	SO:0001819	synonymous_variant	7142				cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11363039G>C		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952		ENST00000312693.3:c.81C>G	16.37:g.11363039G>C						RMI2_ENST00000572173.1_Intron	p.T27T	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN			1	150	-			27					Q9NZB0	Silent	SNP	ENST00000312693.3	37	c.81C>G	CCDS45410.1																																																																																				0.622	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425		130	141	0	0	0	1	0	130	141				
SPATA16	83893	broad.mit.edu	37	3	172642049	172642049	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:172642049C>T	ENST00000351008.3	-	8	1470	c.1287G>A	c.(1285-1287)atG>atA	p.M429I		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	429					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTCGCTTCCCCATTGTCTCCA	0.333																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1285-1287)atG>atA		spermatogenesis associated 16							121.0	119.0	119.0					3																	172642049		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172642049C>T	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1287G>A	3.37:g.172642049C>T	ENSP00000341765:p.Met429Ile						p.M429I	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		8	1470	-	Ovarian(172;0.00319)|Breast(254;0.197)		429					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1287G>A	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511945	0.27036	.	.	ENSG00000144962	ENST00000351008	T	0.12774	2.65	5.81	5.81	0.92471	.	0.197292	0.46442	D	0.000285	T	0.07683	0.0193	N	0.17082	0.46	0.25205	N	0.990029	B	0.06786	0.001	B	0.06405	0.002	T	0.34004	-0.9846	10	0.17832	T	0.49	-10.3423	7.9023	0.29742	0.1612:0.7587:0.0:0.0801	.	429	Q9BXB7	SPT16_HUMAN	I	429	ENSP00000341765:M429I	ENSP00000341765:M429I	M	-	3	0	SPATA16	174124743	0.997000	0.39634	1.000000	0.80357	0.957000	0.61999	0.571000	0.23669	2.752000	0.94435	0.557000	0.71058	ATG		0.333	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		7	48	0	0	0	1	0	7	48				
ZDHHC15	158866	broad.mit.edu	37	X	74644541	74644541	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:74644541C>A	ENST00000373367.3	-	8	912	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	ZDHHC15_ENST00000541184.1_Missense_Mutation_p.V219L|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.L187F	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	228					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AAGAGAATCACAAGGCTGACA	0.363																																						ENST00000541184.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						c.(655-657)Gtg>Ttg		zinc finger, DHHC-type containing 15							85.0	67.0	73.0					X																	74644541		2203	4300	6503	SO:0001583	missense	158866					integral to membrane	zinc ion binding	g.chrX:74644541C>A	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.682G>T	X.37:g.74644541C>A	ENSP00000362465:p.Val228Leu					ZDHHC15_ENST00000373367.3_Missense_Mutation_p.V228L|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.L187F	p.V219L	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN			7	1132	-			228					B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	c.655G>T	CCDS14430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.05|17.05	3.290706|3.290706	0.59976|0.59976	.|.	.|.	ENSG00000102383|ENSG00000102383	ENST00000373361|ENST00000373367;ENST00000541184	T|T;T	0.59364|0.21543	0.27|2.0;2.0	5.88|5.88	4.91|4.91	0.64330|0.64330	.|.	.|0.038272	.|0.85682	.|D	.|0.000000	T|T	0.05456|0.05456	0.0144|0.0144	N|N	0.01535|0.01535	-0.81|-0.81	0.25134|0.25134	N|N	0.990546|0.990546	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.09377	.|0.002;0.004	T|T	0.41161|0.41161	-0.9524|-0.9524	7|10	0.72032|0.08179	D|T	0.01|0.78	-2.2232|-2.2232	3.6618|3.6618	0.08241|0.08241	0.0:0.6506:0.0:0.3494|0.0:0.6506:0.0:0.3494	.|.	.|219;228	.|B3KVG7;Q96MV8	.|.;ZDH15_HUMAN	F|L	187|228;219	ENSP00000362459:L187F|ENSP00000362465:V228L;ENSP00000445420:V219L	ENSP00000362459:L187F|ENSP00000362465:V228L	L|V	-|-	3|1	2|0	ZDHHC15|ZDHHC15	74561266|74561266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.703000|3.703000	0.54808|0.54808	2.471000|2.471000	0.83476|0.83476	0.600000|0.600000	0.82982|0.82982	TTG|GTG		0.363	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		6	2	1	0	0.0215528	1	0.0224017	6	2				
ZMIZ1	57178	broad.mit.edu	37	10	81070805	81070805	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:81070805C>T	ENST00000334512.5	+	24	3532	c.2960C>T	c.(2959-2961)tCc>tTc	p.S987F	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	987	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTCCTCCTTCCCAGCCTCCC	0.647																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2959-2961)tCc>tTc		zinc finger, MIZ-type containing 1							83.0	93.0	89.0					10																	81070805		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070805C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2960C>T	10.37:g.81070805C>T	ENSP00000334474:p.Ser987Phe					ZMIZ1_ENST00000446377.2_Intron	p.S987F	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3532	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		987			Pro-rich.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2960C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.388186	0.42308	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.35973	1.28	4.72	4.72	0.59763	.	0.418121	0.17770	N	0.162618	T	0.18635	0.0447	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.06935	-1.0799	10	0.09590	T	0.72	-23.0154	13.628	0.62178	0.0:0.8455:0.1545:0.0	.	987	Q9ULJ6	ZMIZ1_HUMAN	F	987;917;888	ENSP00000334474:S987F	ENSP00000334474:S987F	S	+	2	0	ZMIZ1	80740811	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	4.470000	0.60175	2.327000	0.79052	0.491000	0.48974	TCC		0.647	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		45	127	0	0	0	1	0	45	127				
GPR15	2838	broad.mit.edu	37	3	98251319	98251319	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:98251319G>T	ENST00000284311.3	+	1	577	c.442G>T	c.(442-444)Gac>Tac	p.D148Y		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	148					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGAAGGACAGACTGTGCATA	0.522																																						ENST00000284311.3																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(442-444)Gac>Tac		G protein-coupled receptor 15							94.0	76.0	82.0					3																	98251319		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251319G>T		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.442G>T	3.37:g.98251319G>T	ENSP00000284311:p.Asp148Tyr						p.D148Y	NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN		Lung(72;0.246)	1	577	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	148					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.442G>T	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	9.966	1.224270	0.22457	.	.	ENSG00000154165	ENST00000284311	T	0.36699	1.24	4.83	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.696895	0.13101	N	0.413791	T	0.27629	0.0679	L	0.34521	1.04	0.32528	N	0.535282	P	0.36577	0.558	B	0.37198	0.243	T	0.26155	-1.0111	10	0.22706	T	0.39	-6.9557	10.3479	0.43916	0.0984:0.0:0.9016:0.0	.	148	P49685	GPR15_HUMAN	Y	148	ENSP00000284311:D148Y	ENSP00000284311:D148Y	D	+	1	0	GPR15	99734009	0.000000	0.05858	0.998000	0.56505	0.152000	0.21847	-0.026000	0.12392	1.375000	0.46248	0.591000	0.81541	GAC		0.522	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			7	31	1	0	2.0095e-06	1	2.4922e-06	7	31				
KIT	3815	broad.mit.edu	37	4	55561859	55561859	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:55561859C>G	ENST00000288135.5	+	2	346	c.249C>G	c.(247-249)atC>atG	p.I83M		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	83	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGAATGGATCACGGAAAAGG	0.448		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(247-249)atC>atG		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						100.0	93.0	95.0					4																	55561859		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55561859C>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.249C>G	4.37:g.55561859C>G	ENSP00000288135:p.Ile83Met						p.I83M	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	2	346	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		83			Ig-like C2-type 1.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.249C>G	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	C	3.136	-0.177299	0.06380	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.55413	0.52;0.52	5.2	3.44	0.39384	Immunoglobulin-like fold (1);	1.366150	0.04694	N	0.414746	T	0.57169	0.2035	M	0.65498	2.005	0.09310	N	1	B;B	0.26902	0.037;0.163	B;B	0.34452	0.094;0.183	T	0.46679	-0.9174	10	0.36615	T	0.2	.	8.9829	0.35977	0.0:0.7731:0.1472:0.0797	.	83;83	P10721-2;P10721	.;KIT_HUMAN	M	83	ENSP00000288135:I83M;ENSP00000390987:I83M	ENSP00000288135:I83M	I	+	3	3	KIT	55256616	0.002000	0.14202	0.003000	0.11579	0.006000	0.05464	0.561000	0.23515	0.731000	0.32448	0.655000	0.94253	ATC		0.448	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			11	10	0	0	0	1	0	11	10				
CSGALNACT1	55790	broad.mit.edu	37	8	19316149	19316149	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:19316149G>T	ENST00000454498.2	-	5	1652	c.639C>A	c.(637-639)atC>atA	p.I213I	CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Silent_p.I213I|CSGALNACT1_ENST00000544602.1_Silent_p.I213I|CSGALNACT1_ENST00000311540.4_Silent_p.I213I|CSGALNACT1_ENST00000332246.6_Silent_p.I213I	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	213					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CTGTTCGGTAGATCCCTGTTA	0.418																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(637-639)atC>atA		chondroitin sulfate N-acetylgalactosaminyltransferase 1							186.0	176.0	180.0					8																	19316149		2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19316149G>T	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.639C>A	8.37:g.19316149G>T						CSGALNACT1_ENST00000544602.1_Silent_p.I213I|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000311540.4_Silent_p.I213I|CSGALNACT1_ENST00000522854.1_Silent_p.I213I|CSGALNACT1_ENST00000332246.6_Silent_p.I213I	p.I213I	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1652	-			213					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.639C>A	CCDS6010.1																																																																																				0.418	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		20	24	1	0	7.21436e-19	1	1.13471e-18	20	24				
PLEKHA5	54477	broad.mit.edu	37	12	19427863	19427863	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:19427863T>A	ENST00000299275.6	+	10	1247	c.1241T>A	c.(1240-1242)tTg>tAg	p.L414*	PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.L306*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.L172*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.L420*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.L306*	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	414					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATGCAGCAGTTGGAACAGTGG	0.473																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1240-1242)tTg>tAg		pleckstrin homology domain containing, family A member 5							38.0	45.0	43.0					12																	19427863		2203	4300	6503	SO:0001587	stop_gained	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19427863T>A	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1241T>A	12.37:g.19427863T>A	ENSP00000299275:p.Leu414*					PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.L306*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.L420*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.L414*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.L306*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.L172*	p.L414*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			10	1245	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		414					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Nonsense_Mutation	SNP	ENST00000299275.6	37	c.1241T>A	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	T	40	8.230913	0.98717	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7977	16.1986	0.82053	0.0:0.0:0.0:1.0	.	.	.	.	X	414;414;414;421;414;420;414;172;414;306;306;306	.	ENSP00000299275:L414X	L	+	2	0	PLEKHA5	19319130	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	6.709000	0.74665	2.227000	0.72691	0.455000	0.32223	TTG		0.473	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		10	77	0	0	0	1	0	10	77				
PLSCR4	57088	broad.mit.edu	37	3	145912998	145912998	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:145912998C>A	ENST00000354952.2	-	8	1098	c.858G>T	c.(856-858)atG>atT	p.M286I	PLSCR4_ENST00000493382.1_Missense_Mutation_p.M286I|PLSCR4_ENST00000433593.2_Missense_Mutation_p.M181I|PLSCR4_ENST00000383083.2_Missense_Mutation_p.M196I|PLSCR4_ENST00000446574.2_Missense_Mutation_p.M286I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	286					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CAGCATCTGCCATTGCTGATA	0.423																																						ENST00000354952.2																			0				kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						c.(856-858)atG>atT		phospholipid scramblase 4							178.0	145.0	156.0					3																	145912998		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145912998C>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.858G>T	3.37:g.145912998C>A	ENSP00000347038:p.Met286Ile					PLSCR4_ENST00000433593.2_Missense_Mutation_p.M181I|PLSCR4_ENST00000446574.2_Missense_Mutation_p.M286I|PLSCR4_ENST00000383083.2_Missense_Mutation_p.M196I|PLSCR4_ENST00000493382.1_Missense_Mutation_p.M286I	p.M286I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN			8	1098	-			286					A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.858G>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342880	0.24339	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	4.75	2.79	0.32731	.	0.218239	0.36167	N	0.002752	T	0.13114	0.0318	L	0.29908	0.895	0.09310	N	1	B;B	0.28470	0.029;0.213	B;B	0.25140	0.037;0.058	T	0.17258	-1.0375	10	0.72032	D	0.01	.	5.7842	0.18324	0.4354:0.4721:0.0:0.0925	.	196;286	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	I	286;196;181;286;286	ENSP00000347038:M286I;ENSP00000372561:M196I;ENSP00000415605:M181I;ENSP00000399315:M286I;ENSP00000419040:M286I	ENSP00000347038:M286I	M	-	3	0	PLSCR4	147395688	1.000000	0.71417	0.048000	0.18961	0.003000	0.03518	3.536000	0.53582	1.334000	0.45468	-0.282000	0.10007	ATG		0.423	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		17	44	1	0	3.45872e-05	1	4.08679e-05	17	44				
PCDHGA3	56112	broad.mit.edu	37	5	140725274	140725274	+	Silent	SNP	C	C	T	rs200612120		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140725274C>T	ENST00000253812.6	+	1	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCCGAGA	0.632																																						ENST00000253812.6																			0				breast(1)	1						c.(1672-1674)aaC>aaT									129.0	141.0	137.0					5																	140725274		2203	4300	6503	SO:0001819	synonymous_variant	56112							g.chr5:140725274C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1674C>T	5.37:g.140725274C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.N558N	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1674	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1674C>T	CCDS47290.1																																																																																				0.632	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		54	161	0	0	0	1	0	54	161				
METTL8	79828	broad.mit.edu	37	2	172187160	172187160	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:172187160C>T	ENST00000375258.4	-	7	984	c.769G>A	c.(769-771)Gta>Ata	p.V257I		NM_024770.3	NP_079046.2	Q9H825	METL8_HUMAN	methyltransferase like 8	257						cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						TCATCACATACATCATGAACA	0.433																																						ENST00000375258.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						c.(769-771)Gta>Ata		methyltransferase like 8							121.0	104.0	110.0					2																	172187160		2203	4300	6503	SO:0001583	missense	79828						methyltransferase activity	g.chr2:172187160C>T	AK024046	CCDS2242.1, CCDS2242.2	2q31.1	2012-06-12			ENSG00000123600	ENSG00000123600			25856	protein-coding gene	gene with protein product	"""tension-induced/inhibited protein"""	609525				15992539	Standard	NM_024770		Approved	FLJ13984, TIP	uc010zdo.2	Q9H825	OTTHUMG00000132261	ENST00000375258.4:c.769G>A	2.37:g.172187160C>T	ENSP00000364407:p.Val257Ile						p.V257I			B3KW44	B3KW44_HUMAN			7	984	-			257					Q53TM9|Q53TQ0	Missense_Mutation	SNP	ENST00000375258.4	37	c.769G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.65|16.65	3.181438|3.181438	0.57800|0.57800	.|.	.|.	ENSG00000123600|ENSG00000123600	ENST00000438609|ENST00000375258;ENST00000392599	.|T;T	.|0.17854	.|3.77;2.25	6.17|6.17	4.32|4.32	0.51571|0.51571	.|Methyltransferase type 11 (1);	.|0.108846	.|0.64402	.|N	.|0.000008	T|T	0.12347|0.12347	0.0300|0.0300	N|N	0.15975|0.15975	0.35|0.35	0.39160|0.39160	D|D	0.962391|0.962391	.|P;P;D	.|0.54047	.|0.826;0.605;0.964	.|B;B;P	.|0.49276	.|0.338;0.264;0.605	T|T	0.20840|0.20840	-1.0263|-1.0263	5|10	.|0.18276	.|T	.|0.48	5.8959|5.8959	8.5303|8.5303	0.33331|0.33331	0.0:0.7326:0.1245:0.1429|0.0:0.7326:0.1245:0.1429	.|.	.|212;257;257	.|B4DLT0;B3KW44;Q9H825	.|.;.;METL8_HUMAN	Y|I	92|257;219	.|ENSP00000364407:V257I;ENSP00000376377:V219I	.|ENSP00000364407:V257I	C|V	-|-	2|1	0|0	METTL8|METTL8	171895406|171895406	1.000000|1.000000	0.71417|0.71417	0.836000|0.836000	0.33094|0.33094	0.993000|0.993000	0.82548|0.82548	1.547000|1.547000	0.36190|0.36190	0.868000|0.868000	0.35678|0.35678	-0.345000|-0.345000	0.07892|0.07892	TGT|GTA		0.433	METTL8-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255345.3	NM_024770		6	24	0	0	0	1	0	6	24				
B4GALNT3	283358	broad.mit.edu	37	12	661643	661643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:661643C>T	ENST00000266383.5	+	13	1232	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	407					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GTTCAGCTTTCAGGAGTACAT	0.602																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1219-1221)Cag>Tag		beta-1,4-N-acetyl-galactosaminyl transferase 3							60.0	57.0	58.0					12																	661643		2203	4300	6503	SO:0001587	stop_gained	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:661643C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1219C>T	12.37:g.661643C>T	ENSP00000266383:p.Gln407*						p.Q407*	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		13	1232	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		407					Q6ZNC1|Q8N7T6	Nonsense_Mutation	SNP	ENST00000266383.5	37	c.1219C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	37	6.566973	0.97671	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	.	.	.	5.47	5.47	0.80525	.	0.470801	0.24007	N	0.042417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-18.0497	10.3597	0.43987	0.0:0.9109:0.0:0.0891	.	.	.	.	X	407;309	.	ENSP00000266383:Q407X	Q	+	1	0	B4GALNT3	531904	0.998000	0.40836	0.999000	0.59377	0.978000	0.69477	4.449000	0.60034	2.579000	0.87056	0.655000	0.94253	CAG		0.602	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		60	27	0	0	0	1	0	60	27				
HTR7	3363	broad.mit.edu	37	10	92617225	92617225	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:92617225G>T	ENST00000336152.3	-	1	230	c.204C>A	c.(202-204)tcC>tcA	p.S68S	HTR7_ENST00000277874.6_Silent_p.S68S|HTR7_ENST00000371721.3_Silent_p.S68S|HTR7_ENST00000371719.2_Silent_p.S68S	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	68					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CCCCACAGCCGGAGGCATTGT	0.687																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(202-204)tcC>tcA		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						38.0	32.0	34.0					10																	92617225		2203	4299	6502	SO:0001819	synonymous_variant	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92617225G>T	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.204C>A	10.37:g.92617225G>T						HTR7_ENST00000277874.6_Silent_p.S68S|HTR7_ENST00000371719.2_Silent_p.S68S|HTR7_ENST00000336152.3_Silent_p.S68S	p.S68S			P34969	5HT7R_HUMAN			1	446	-			68					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	37	c.204C>A	CCDS7408.1																																																																																				0.687	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		16	34	1	0	1.5739e-10	1	2.225e-10	16	34				
ATP1A3	478	broad.mit.edu	37	19	42489283	42489283	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:42489283G>T	ENST00000302102.5	-	8	930	c.780C>A	c.(778-780)atC>atA	p.I260I	ATP1A3_ENST00000543770.1_Silent_p.I271I|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000602133.1_Silent_p.I230I|ATP1A3_ENST00000545399.1_Silent_p.I273I	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	260					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGGTGGCGATACGGCCCA	0.672																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(817-819)atC>atA		ATPase, Na+/K+ transporting, alpha 3 polypeptide							83.0	67.0	73.0					19																	42489283		2203	4300	6503	SO:0001819	synonymous_variant	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42489283G>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.780C>A	19.37:g.42489283G>T						ATP1A3_ENST00000543770.1_Silent_p.I271I|ATP1A3_ENST00000602133.1_Silent_p.I230I|ATP1A3_ENST00000302102.5_Silent_p.I260I	p.I273I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			8	972	-			260					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	ENST00000302102.5	37	c.819C>A	CCDS12594.1																																																																																				0.672	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		7	23	1	0	5.18039e-06	1	6.29331e-06	7	23				
OR5M3	219482	broad.mit.edu	37	11	56237967	56237967	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:56237967T>A	ENST00000312240.2	-	1	47	c.7A>T	c.(7-9)Aat>Tat	p.N3Y		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCGGTGAAATTGAGCATTTTC	0.313																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(7-9)Aat>Tat		olfactory receptor, family 5, subfamily M, member 3							44.0	41.0	42.0					11																	56237967		2201	4296	6497	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237967T>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.7A>T	11.37:g.56237967T>A	ENSP00000312208:p.Asn3Tyr						p.N3Y	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	47	-	Esophageal squamous(21;0.00448)		3					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.7A>T	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.429032	0.62844	.	.	ENSG00000174937	ENST00000312240	T	0.02197	4.4	4.91	4.91	0.64330	.	0.000000	0.44483	D	0.000453	T	0.19765	0.0475	H	0.96208	3.785	0.30958	N	0.724024	D	0.89917	1.0	D	0.91635	0.999	T	0.43245	-0.9403	10	0.87932	D	0	-15.5763	12.4879	0.55883	0.0:0.0:0.0:1.0	.	3	Q8NGP4	OR5M3_HUMAN	Y	3	ENSP00000312208:N3Y	ENSP00000312208:N3Y	N	-	1	0	OR5M3	55994543	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	5.625000	0.67770	1.837000	0.53436	0.391000	0.25812	AAT		0.313	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		8	22	0	0	0	1	0	8	22				
S1PR1	1901	broad.mit.edu	37	1	101704868	101704868	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:101704868T>C	ENST00000305352.6	+	2	703	c.328T>C	c.(328-330)Tac>Cac	p.Y110H	RP4-575N6.4_ENST00000432195.1_RNA|S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	110					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GGCCACCACCTACAAGCTCAC	0.567											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000305352.6																			0				NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						c.(328-330)Tac>Cac		sphingosine-1-phosphate receptor 1							61.0	61.0	61.0					1																	101704868		2203	4300	6503	SO:0001583	missense	1901				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr1:101704868T>C	M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.328T>C	1.37:g.101704868T>C	ENSP00000305416:p.Tyr110His		OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	S1PR1_ENST00000475821.1_3'UTR	p.Y110H	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN			2	703	+			110					D3DT66|Q9BYY4|Q9NYN8	Missense_Mutation	SNP	ENST00000305352.6	37	c.328T>C	CCDS777.1	.	.	.	.	.	.	.	.	.	.	T	14.98	2.698597	0.48307	.	.	ENSG00000170989	ENST00000305352;ENST00000424264	T	0.71934	-0.61	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.058522	0.64402	D	0.000001	T	0.79281	0.4419	M	0.66560	2.04	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	T	0.82230	-0.0560	10	0.87932	D	0	.	16.1063	0.81225	0.0:0.0:0.0:1.0	.	110	P21453	S1PR1_HUMAN	H	110	ENSP00000305416:Y110H	ENSP00000305416:Y110H	Y	+	1	0	S1PR1	101477456	1.000000	0.71417	1.000000	0.80357	0.003000	0.03518	8.040000	0.89188	2.205000	0.71048	0.528000	0.53228	TAC		0.567	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029908.1	NM_001400		16	33	0	0	0	1	0	16	33				
CAPN9	10753	broad.mit.edu	37	1	230883368	230883368	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:230883368G>A	ENST00000271971.2	+	1	239	c.126G>A	c.(124-126)ctG>ctA	p.L42L	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Silent_p.L42L|CAPN9_ENST00000354537.1_Silent_p.L42L	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	42	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GAGGCACCCTGTTTGAGGATG	0.607																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(124-126)ctG>ctA		calpain 9							67.0	68.0	68.0					1																	230883368		2203	4300	6503	SO:0001819	synonymous_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230883368G>A	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.126G>A	1.37:g.230883368G>A						CAPN9_ENST00000271971.2_Silent_p.L42L|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Silent_p.L42L	p.L42L	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			1	208	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	42			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Silent	SNP	ENST00000271971.2	37	c.126G>A	CCDS1586.1																																																																																				0.607	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		17	52	0	0	0	1	0	17	52				
CD163	9332	broad.mit.edu	37	12	7635998	7635998	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:7635998C>G	ENST00000359156.4	-	12	3255	c.3053G>C	c.(3052-3054)tGt>tCt	p.C1018S	CD163_ENST00000432237.2_Missense_Mutation_p.C1018S|CD163_ENST00000541972.1_Missense_Mutation_p.C1006S|CD163_ENST00000396620.3_Missense_Mutation_p.C1051S|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1018	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CTTGTGCCCACACTCACTATG	0.542																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3052-3054)tGt>tCt		CD163 molecule							105.0	92.0	96.0					12																	7635998		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635998C>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3053G>C	12.37:g.7635998C>G	ENSP00000352071:p.Cys1018Ser					CD163_ENST00000432237.2_Missense_Mutation_p.C1018S|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000396620.3_Missense_Mutation_p.C1051S|CD163_ENST00000541972.1_Missense_Mutation_p.C1006S	p.C1018S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			12	3255	-			1018			SRCR 9.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3053G>C	CCDS8578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.1|22.1	4.248358|4.248358	0.80024|0.80024	.|.	.|.	ENSG00000177575|ENSG00000177575	ENST00000359156;ENST00000542280;ENST00000541972;ENST00000396620;ENST00000432237|ENST00000537626	T;T;T;T;T|.	0.51817|.	0.69;0.69;0.69;0.69;0.69|.	5.3|5.3	5.3|5.3	0.74995|0.74995	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);|.	0.341921|.	0.29087|.	N|.	0.013200|.	D|D	0.91116|0.91116	0.7203|0.7203	H|H	0.99347|0.99347	4.525|4.525	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	D|D	0.94564|0.94564	0.7765|0.7765	10|5	0.87932|.	D|.	0|.	.|.	16.8075|16.8075	0.85709|0.85709	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1051;1018;1018|.	C9JHR8;Q86VB7-3;Q86VB7|.	.;.;C163A_HUMAN|.	S|L	1018;58;1006;1051;1018|31	ENSP00000352071:C1018S;ENSP00000445438:C58S;ENSP00000444071:C1006S;ENSP00000379863:C1051S;ENSP00000403885:C1018S|.	ENSP00000352071:C1018S|.	C|V	-|-	2|1	0|0	CD163|CD163	7527265|7527265	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.639000|0.639000	0.38242|0.38242	7.782000|7.782000	0.85680|0.85680	2.649000|2.649000	0.89929|0.89929	0.555000|0.555000	0.69702|0.69702	TGT|GTG		0.542	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		42	23	0	0	0	1	0	42	23				
ADAM22	53616	broad.mit.edu	37	7	87757924	87757924	+	Missense_Mutation	SNP	G	G	C	rs553357216		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:87757924G>C	ENST00000265727.7	+	9	765	c.686G>C	c.(685-687)cGa>cCa	p.R229P	ADAM22_ENST00000315984.7_Missense_Mutation_p.R229P|ADAM22_ENST00000398209.3_Missense_Mutation_p.R229P|ADAM22_ENST00000398204.4_Missense_Mutation_p.R229P|ADAM22_ENST00000439864.1_Missense_Mutation_p.R229P|ADAM22_ENST00000398201.4_Missense_Mutation_p.R229P			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	229					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGCTTCGTCGATATCCTCGT	0.368																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(685-687)cGa>cCa		ADAM metallopeptidase domain 22							208.0	189.0	195.0					7																	87757924		1889	4109	5998	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87757924G>C	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.686G>C	7.37:g.87757924G>C	ENSP00000265727:p.Arg229Pro					ADAM22_ENST00000265727.7_Missense_Mutation_p.R229P|ADAM22_ENST00000398209.3_Missense_Mutation_p.R229P|ADAM22_ENST00000398201.4_Missense_Mutation_p.R229P|ADAM22_ENST00000315984.7_Missense_Mutation_p.R229P|ADAM22_ENST00000439864.1_Missense_Mutation_p.R229P	p.R229P	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		9	1009	+	Esophageal squamous(14;0.00202)		229					O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.686G>C	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479712	0.63849	.	.	ENSG00000008277	ENST00000398204;ENST00000439864;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T;T	0.06687	4.09;3.27;4.12;4.13;4.17;4.15;4.14	5.1	5.1	0.69264	.	0.355663	0.27270	N	0.020130	T	0.14184	0.0343	L	0.27053	0.805	0.44995	D	0.99801	B;B;B;D;D;B	0.60575	0.048;0.08;0.048;0.98;0.988;0.057	B;B;B;D;P;B	0.63192	0.059;0.125;0.059;0.912;0.82;0.055	T	0.01262	-1.1402	10	0.62326	D	0.03	.	9.8352	0.40965	0.1279:0.0:0.8721:0.0	.	281;229;229;229;229;229	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2;E7EPF1;D6W5P7	.;.;ADA22_HUMAN;.;.;.	P	229;229;229;229;229;229;196	ENSP00000381262:R229P;ENSP00000391334:R229P;ENSP00000381260:R229P;ENSP00000265727:R229P;ENSP00000315900:R229P;ENSP00000381267:R229P;ENSP00000381261:R196P	ENSP00000265727:R229P	R	+	2	0	ADAM22	87595860	1.000000	0.71417	0.473000	0.27253	0.902000	0.53008	2.873000	0.48475	2.372000	0.80975	0.655000	0.94253	CGA		0.368	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		6	13	0	0	0	1	0	6	13				
EFCAB5	374786	broad.mit.edu	37	17	28380797	28380797	+	Missense_Mutation	SNP	C	C	T	rs553413830		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:28380797C>T	ENST00000394835.3	+	10	2017	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266C|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609C|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609C|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553C|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609C	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	609							calcium ion binding (GO:0005509)	p.R609C(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACAAGGGTCACGCAGAGAGTC	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		24932	0.0		0.0	False		,,,				2504	0.0					ENST00000394835.3																			1	Substitution - Missense(1)	p.R609C(1)	breast(1)	breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1825-1827)Cgc>Tgc		EF-hand calcium binding domain 5							248.0	237.0	241.0					17																	28380797		2112	4226	6338	SO:0001583	missense	374786						calcium ion binding	g.chr17:28380797C>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1825C>T	17.37:g.28380797C>T	ENSP00000378312:p.Arg609Cys					EFCAB5_ENST00000378738.3_Missense_Mutation_p.R609C|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R609C|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R609C|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R266C|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R553C	p.R609C	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN			10	2017	+			609					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.1825C>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228894	0.58777	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.78	0.211	0.15236	.	1.031300	0.07709	N	0.941752	T	0.43500	0.1250	L	0.40543	1.245	0.09310	N	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.995;0.99	P;P;P;P;B;P	0.57776	0.676;0.827;0.731;0.747;0.409;0.627	T	0.27157	-1.0082	10	0.45353	T	0.12	5.8403	2.3594	0.04303	0.2655:0.4557:0.129:0.1498	.	553;553;609;609;609;609	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	C	553;352;266;609;609;609;609;553;415	ENSP00000440619:R553C;ENSP00000445575:R266C;ENSP00000378312:R609C;ENSP00000322003:R609C;ENSP00000378309:R609C;ENSP00000368012:R609C;ENSP00000417009:R415C	ENSP00000322003:R609C	R	+	1	0	EFCAB5	25404923	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.071000	0.11505	0.056000	0.16144	-0.126000	0.14955	CGC		0.488	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		27	58	0	0	0	1	0	27	58				
BCLAF1	9774	broad.mit.edu	37	6	136599468	136599468	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:136599468T>A	ENST00000531224.1	-	4	803	c.551A>T	c.(550-552)cAg>cTg	p.Q184L	BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q182L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q182L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q184L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q182L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q184L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	184					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CGGTTCCTCCTGTGATTTACT	0.423																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(550-552)cAg>cTg		BCL2-associated transcription factor 1							245.0	241.0	243.0					6																	136599468		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599468T>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.551A>T	6.37:g.136599468T>A	ENSP00000435210:p.Gln184Leu					BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q184L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q182L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q182L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q182L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q184L	p.Q184L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	803	-	Colorectal(23;0.24)		184					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.551A>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787125	0.49997	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52;2.52;2.52	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000008	T	0.02970	0.0088	N	0.08118	0	0.80722	D	1	P;P;P;P	0.41450	0.597;0.75;0.597;0.597	B;B;B;B	0.36335	0.133;0.222;0.133;0.098	T	0.39623	-0.9605	10	0.51188	T	0.08	-9.2161	10.434	0.44424	0.0:0.0727:0.0:0.9273	.	182;182;184;184	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	184;182;184;184;182;182;184	ENSP00000435210:Q184L;ENSP00000229446:Q182L;ENSP00000435441:Q184L;ENSP00000436501:Q184L;ENSP00000434826:Q182L;ENSP00000376159:Q182L;ENSP00000431734:Q184L	ENSP00000229446:Q182L	Q	-	2	0	BCLAF1	136641161	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.160000	0.58164	2.202000	0.70862	0.528000	0.53228	CAG		0.423	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		37	110	0	0	0	1	0	37	110				
NDST3	9348	broad.mit.edu	37	4	119026256	119026256	+	Silent	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:119026256T>C	ENST00000296499.5	+	3	1468	c.1065T>C	c.(1063-1065)caT>caC	p.H355H	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	355	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AATTTTACCATACAGGTAAGA	0.368																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1063-1065)caT>caC		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							99.0	109.0	105.0					4																	119026256		2203	4298	6501	SO:0001819	synonymous_variant	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119026256T>C	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1065T>C	4.37:g.119026256T>C						NDST3_ENST00000433996.2_Intron	p.H355H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			3	1468	+			355			Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Silent	SNP	ENST00000296499.5	37	c.1065T>C	CCDS3708.1																																																																																				0.368	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		19	22	0	0	0	1	0	19	22				
SYNE1	23345	broad.mit.edu	37	6	152552560	152552560	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:152552560C>A	ENST00000367255.5	-	114	21606	c.21005G>T	c.(21004-21006)aGt>aTt	p.S7002I	SYNE1_ENST00000341594.5_Missense_Mutation_p.S6614I|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1526I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7002I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6931I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6931I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7002					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATTTGCCAACTTTTATTCAT	0.438										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(21004-21006)aGt>aTt		spectrin repeat containing, nuclear envelope 1							187.0	168.0	175.0					6																	152552560		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152552560C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21005G>T	6.37:g.152552560C>A	ENSP00000356224:p.Ser7002Ile	HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Missense_Mutation_p.S1526I|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6931I|SYNE1_ENST00000265368.4_Missense_Mutation_p.S7002I|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6614I|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6931I	p.S7002I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	114	21606	-		Ovarian(120;0.0955)	7002					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.21005G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180205	0.57800	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.99	4.95	0.65309	.	0.165996	0.42964	D	0.000640	T	0.19685	0.0473	N	0.22421	0.69	0.29833	N	0.829857	P;P;P	0.40266	0.586;0.586;0.71	B;B;B	0.43754	0.248;0.248;0.43	T	0.05750	-1.0866	10	0.49607	T	0.09	.	16.1818	0.81909	0.0:0.9266:0.0:0.0734	.	7002;7002;6931	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	I	7002;6931;7002;6931;6614;1526	ENSP00000356224:S7002I;ENSP00000396024:S6931I;ENSP00000265368:S7002I;ENSP00000390975:S6931I;ENSP00000341887:S6614I;ENSP00000349276:S1526I	ENSP00000265368:S7002I	S	-	2	0	SYNE1	152594253	1.000000	0.71417	0.993000	0.49108	0.952000	0.60782	4.920000	0.63390	2.850000	0.98022	0.650000	0.86243	AGT		0.438	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	30	1	0	6.31663e-08	1	8.24285e-08	14	30				
TEKT4	150483	broad.mit.edu	37	2	95537376	95537376	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:95537376G>A	ENST00000295201.4	+	1	189	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.A18T	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	18					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GTACGACGTGGCCCGTAACAC	0.662																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(52-54)Gcc>Acc		tektin 4							17.0	19.0	19.0					2																	95537376		2175	4243	6418	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537376G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.52G>A	2.37:g.95537376G>A	ENSP00000295201:p.Ala18Thr					TEKT4_ENST00000427593.2_Missense_Mutation_p.A18T|AC097374.2_ENST00000568768.1_RNA	p.A18T	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			1	189	+			18						Missense_Mutation	SNP	ENST00000295201.4	37	c.52G>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	16.49	3.137326	0.56936	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.12465	3.82;2.68	1.85	1.85	0.25348	.	0.148875	0.43260	D	0.000583	T	0.08670	0.0215	N	0.08118	0	0.36976	D	0.894041	D	0.53619	0.961	P	0.49637	0.617	T	0.36720	-0.9736	10	0.20519	T	0.43	-0.2223	9.3018	0.37851	0.0:0.0:1.0:0.0	.	18	Q8WW24	TEKT4_HUMAN	T	18	ENSP00000295201:A18T;ENSP00000407596:A18T	ENSP00000295201:A18T	A	+	1	0	TEKT4	94901103	0.675000	0.27558	0.808000	0.32385	0.126000	0.20510	3.932000	0.56537	1.021000	0.39600	0.460000	0.39030	GCC		0.662	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		13	32	0	0	0	1	0	13	32				
MAGI1	9223	broad.mit.edu	37	3	65422830	65422830	+	Splice_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:65422830C>A	ENST00000497477.2	-	10	1362	c.1363G>T	c.(1363-1365)Ggc>Tgc	p.G455C	MAGI1_ENST00000330909.8_Splice_Site_p.G455C|MAGI1_ENST00000483466.1_Splice_Site_p.G455C|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Splice_Site_p.G455C			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	455					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AGTACTTTACCCTGAAGTGGA	0.398																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.e10+1		membrane associated guanylate kinase, WW and PDZ domain containing 1							147.0	148.0	148.0					3																	65422830		2203	4300	6503	SO:0001630	splice_region_variant	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65422830C>A	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1363+1G>T	3.37:g.65422830C>A						MAGI1_ENST00000497477.2_Splice_Site_p.G455_splice|MAGI1_ENST00000483466.1_Splice_Site_p.G455_splice|MAGI1_ENST00000402939.2_Splice_Site_p.G455_splice|MAGI1_ENST00000470990.1_5'UTR	p.G455_splice	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	10	1362	-		Lung NSC(201;0.0016)	455					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Splice_Site	SNP	ENST00000497477.2	37	c.1363_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.39|17.39	3.378457|3.378457	0.61735|0.61735	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257|ENST00000460329	T;T;T;T;T;T|.	0.47528|.	0.84;0.84;0.84;0.84;0.84;0.84|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.097402|.	0.64402|.	N|.	0.000001|.	T|T	0.74816|0.74816	0.3766|0.3766	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	B;D;B;B;B|.	0.76494|.	0.276;0.999;0.176;0.053;0.057|.	B;D;B;B;B|.	0.73380|.	0.278;0.98;0.207;0.056;0.115|.	T|T	0.70784|0.70784	-0.4778|-0.4778	9|5	.|.	.|.	.|.	-3.6098|-3.6098	19.9618|19.9618	0.97254|0.97254	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	455;455;455;455;455|.	Q96QZ7-6;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;.;.;.;.|.	C|S	455;455;351;330;455;455;241|335	ENSP00000385450:G455C;ENSP00000331157:G455C;ENSP00000418177:G330C;ENSP00000420323:G455C;ENSP00000424369:G455C;ENSP00000420796:G241C|.	.|.	G|R	-|-	1|3	0|2	MAGI1|MAGI1	65397870|65397870	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	5.359000|5.359000	0.66074|0.66074	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GGC|AGG		0.398	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742	Missense_Mutation	14	18	1	0	1.52009e-12	1	2.23543e-12	14	18				
ZNF215	7762	broad.mit.edu	37	11	6977139	6977139	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:6977139G>T	ENST00000278319.5	+	7	1519	c.931G>T	c.(931-933)Gat>Tat	p.D311Y	ZNF215_ENST00000414517.2_Missense_Mutation_p.D311Y|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	311					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GAAAAGCTTTGATATTAATTC	0.323																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(931-933)Gat>Tat		zinc finger protein 215							64.0	75.0	71.0					11																	6977139		2201	4294	6495	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977139G>T	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.931G>T	11.37:g.6977139G>T	ENSP00000278319:p.Asp311Tyr					ZNF215_ENST00000414517.2_Missense_Mutation_p.D311Y|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Intron	p.D311Y	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1519	+			311					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.931G>T	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869491	0.51588	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.05855	3.38;3.38	4.02	3.06	0.35304	.	0.379178	0.19384	N	0.115597	T	0.03871	0.0109	N	0.08118	0	0.19575	N	0.999969	P	0.50943	0.94	P	0.44732	0.459	T	0.36040	-0.9764	10	0.54805	T	0.06	.	5.9999	0.19515	0.1596:0.0:0.8404:0.0	.	311	Q9UL58	ZN215_HUMAN	Y	311	ENSP00000278319:D311Y;ENSP00000393202:D311Y	ENSP00000278319:D311Y	D	+	1	0	ZNF215	6933715	0.000000	0.05858	0.003000	0.11579	0.347000	0.29111	0.085000	0.14912	0.953000	0.37825	0.655000	0.94253	GAT		0.323	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			12	24	1	0	1.08611e-07	1	1.40957e-07	12	24				
SOGA1	140710	broad.mit.edu	37	20	35444529	35444529	+	Missense_Mutation	SNP	G	G	A	rs200205394		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:35444529G>A	ENST00000357779.3	-	5	928	c.602C>T	c.(601-603)cCc>cTc	p.P201L	SOGA1_ENST00000456801.2_Missense_Mutation_p.P42L|SOGA1_ENST00000279034.6_Missense_Mutation_p.P201L|SOGA1_ENST00000237536.4_Missense_Mutation_p.P439L			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	201					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCGCGAGTGGGGGGCATCGGC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18706	0.0		0.001	False		,,,				2504	0.0					ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(1315-1317)cCc>cTc		suppressor of glucose, autophagy associated 1							35.0	40.0	38.0					20																	35444529		2166	4267	6433	SO:0001583	missense	140710							g.chr20:35444529G>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.602C>T	20.37:g.35444529G>A	ENSP00000350424:p.Pro201Leu					SOGA1_ENST00000456801.2_Missense_Mutation_p.P42L|SOGA1_ENST00000357779.3_Missense_Mutation_p.P201L|SOGA1_ENST00000279034.5_Missense_Mutation_p.P201L	p.P439L	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	1657	-			201					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.1316C>T		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	15.42	2.827922	0.50845	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.35973	1.93;1.97;1.28;2.0	5.24	5.24	0.73138	.	0.122950	0.56097	D	0.000037	T	0.55130	0.1901	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.47711	-0.9096	10	0.38643	T	0.18	-42.7137	17.7588	0.88457	0.0:0.0:1.0:0.0	.	201	O94964-4	.	L	439;201;42;201	ENSP00000237536:P439L;ENSP00000279034:P201L;ENSP00000413886:P42L;ENSP00000350424:P201L	ENSP00000237536:P439L	P	-	2	0	KIAA0889	34877943	1.000000	0.71417	0.301000	0.25044	0.126000	0.20510	7.819000	0.86621	2.723000	0.93209	0.655000	0.94253	CCC		0.642	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		19	32	0	0	0	1	0	19	32				
GFRA1	2674	broad.mit.edu	37	10	117885064	117885064	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:117885064C>A	ENST00000355422.6	-	6	988	c.438G>T	c.(436-438)gaG>gaT	p.E146D	GFRA1_ENST00000544592.1_Missense_Mutation_p.E25D|GFRA1_ENST00000439649.3_Missense_Mutation_p.E141D|GFRA1_ENST00000369236.1_Missense_Mutation_p.E141D	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	146					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGGGAATGTGCTCCACTGCAA	0.512																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(421-423)gaG>gaT		GDNF family receptor alpha 1							39.0	34.0	36.0					10																	117885064		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117885064C>A	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.438G>T	10.37:g.117885064C>A	ENSP00000347591:p.Glu146Asp					GFRA1_ENST00000544592.1_Missense_Mutation_p.E25D|GFRA1_ENST00000369236.1_Missense_Mutation_p.E141D|GFRA1_ENST00000355422.6_Missense_Mutation_p.E146D	p.E141D	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	5	790	-		Lung NSC(174;0.21)	146					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.423G>T	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	10.05	1.244963	0.22796	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.45668	1.44;0.89	5.74	1.76	0.24704	.	0.167487	0.51477	D	0.000094	T	0.27594	0.0678	L	0.36672	1.1	0.37920	D	0.931674	B;B	0.29716	0.255;0.235	B;B	0.25614	0.038;0.062	T	0.09751	-1.0660	10	0.25106	T	0.35	-16.9292	8.7944	0.34870	0.0:0.6999:0.0:0.3001	.	146;141	P56159;P56159-2	GFRA1_HUMAN;.	D	146;141;141;25;141	ENSP00000358239:E141D;ENSP00000442179:E25D	ENSP00000347591:E141D	E	-	3	2	GFRA1	117875054	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	0.619000	0.24388	0.062000	0.16340	0.561000	0.74099	GAG		0.512	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		6	6	1	0	3.59834e-05	1	4.23072e-05	6	6				
NLRP5	126206	broad.mit.edu	37	19	56539100	56539100	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:56539100C>T	ENST00000390649.3	+	7	1501	c.1501C>T	c.(1501-1503)Ctg>Ttg	p.L501L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	501	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCTCACAGGCCTGCACGCCGC	0.632																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1501-1503)Ctg>Ttg		NLR family, pyrin domain containing 5							33.0	35.0	35.0					19																	56539100		2124	4225	6349	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539100C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1501C>T	19.37:g.56539100C>T							p.L501L	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1501	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	501			NACHT.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1501C>T	CCDS12938.1																																																																																				0.632	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		18	22	0	0	0	1	0	18	22				
VWC2	375567	broad.mit.edu	37	7	49842419	49842419	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:49842419G>T	ENST00000340652.4	+	3	1365	c.809G>T	c.(808-810)tGt>tTt	p.C270F		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	270	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.				negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GATCAGTGCTGTCCCATCTGC	0.577																																						ENST00000340652.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						c.(808-810)tGt>tTt		von Willebrand factor C domain containing 2							245.0	160.0	189.0					7																	49842419		2203	4300	6503	SO:0001583	missense	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49842419G>T	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.809G>T	7.37:g.49842419G>T	ENSP00000341819:p.Cys270Phe						p.C270F	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN			3	1365	+			270			VWFC 2.		Q6UXE2	Missense_Mutation	SNP	ENST00000340652.4	37	c.809G>T	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502078	0.85176	.	.	ENSG00000188730	ENST00000340652	D	0.92149	-2.98	5.33	5.33	0.75918	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.98130	1.0430	10	0.87932	D	0	.	19.0335	0.92967	0.0:0.0:1.0:0.0	.	270	Q2TAL6	VWC2_HUMAN	F	270	ENSP00000341819:C270F	ENSP00000341819:C270F	C	+	2	0	VWC2	49812965	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.488000	0.83962	0.655000	0.94253	TGT		0.577	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		13	38	1	0	0.000151284	1	0.000175269	13	38				
FRYL	285527	broad.mit.edu	37	4	48584666	48584666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:48584666C>A	ENST00000503238.1	-	17	1833	c.1834G>T	c.(1834-1836)Gag>Tag	p.E612*	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E612*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.E612*|FRYL_ENST00000507711.1_Nonsense_Mutation_p.E612*|FRYL_ENST00000506685.1_Nonsense_Mutation_p.E318*			O94915	FRYL_HUMAN	FRY-like	612					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGAACATCCTCCCGCCAATCT	0.398																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(1834-1836)Gag>Tag		FRY-like							84.0	84.0	84.0					4																	48584666		1861	4106	5967	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48584666C>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1834G>T	4.37:g.48584666C>A	ENSP00000426064:p.Glu612*					FRYL_ENST00000503238.1_Nonsense_Mutation_p.E612*|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Nonsense_Mutation_p.E612*|FRYL_ENST00000506685.1_Nonsense_Mutation_p.E318*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.E612*	p.E612*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			20	2438	-			612					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.1834G>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	37	6.298766	0.97453	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711;ENST00000506685	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	20.0499	0.97621	0.0:1.0:0.0:0.0	.	.	.	.	X	612;612;612;612;318	.	ENSP00000351113:E612X	E	-	1	0	FRYL	48279423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.798000	0.96311	0.655000	0.94253	GAG		0.398	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			10	15	1	0	0.000442599	1	0.00049467	10	15				
FNDC1	84624	broad.mit.edu	37	6	159653190	159653190	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:159653190G>T	ENST00000297267.9	+	11	1846	c.1646G>T	c.(1645-1647)cGg>cTg	p.R549L	FNDC1_ENST00000340366.6_Missense_Mutation_p.R486L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	549					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTGGGTTCCCGGGAGGACTCG	0.627																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1645-1647)cGg>cTg		fibronectin type III domain containing 1							29.0	35.0	33.0					6																	159653190		1964	4157	6121	SO:0001583	missense	84624					extracellular region		g.chr6:159653190G>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1646G>T	6.37:g.159653190G>T	ENSP00000297267:p.Arg549Leu					FNDC1_ENST00000340366.6_Missense_Mutation_p.R486L	p.R549L	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	1846	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	549					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1646G>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	5.999	0.368219	0.11352	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.06849	3.25;4.08	5.7	-9.13	0.00704	.	2.252340	0.02393	N	0.079889	T	0.00724	0.0024	N	0.12746	0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42327	-0.9458	10	0.08179	T	0.78	-2.4586	1.0305	0.01537	0.4173:0.2159:0.1766:0.1901	.	486;549	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	L	549;486	ENSP00000297267:R549L;ENSP00000342460:R486L	ENSP00000297267:R549L	R	+	2	0	FNDC1	159573180	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.015000	0.03637	-1.628000	0.01548	-1.099000	0.02127	CGG		0.627	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		6	11	1	0	3.59834e-05	1	4.23072e-05	6	11				
PLCH2	9651	broad.mit.edu	37	1	2428299	2428299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:2428299G>T	ENST00000419816.2	+	15	2240	c.1966G>T	c.(1966-1968)Gag>Tag	p.E656*	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.E656*|RP3-395M20.3_ENST00000442305.1_RNA|PLCH2_ENST00000449969.1_Nonsense_Mutation_p.E629*|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.E656*			O75038	PLCH2_HUMAN	phospholipase C, eta 2	656	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GTCCTTCAGCGAGACCAAGGC	0.657																																						ENST00000449969.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(1885-1887)Gag>Tag		phospholipase C, eta 2							48.0	56.0	54.0					1																	2428299		2147	4265	6412	SO:0001587	stop_gained	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2428299G>T	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.1966G>T	1.37:g.2428299G>T	ENSP00000389803:p.Glu656*					PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Nonsense_Mutation_p.E656*|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.E656*|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.E656*	p.E629*			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	15	2046	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	656			PI-PLC Y-box.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Nonsense_Mutation	SNP	ENST00000419816.2	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	G	48	14.096424	0.99779	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	.	.	.	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1222	0.81365	0.0:0.0:1.0:0.0	.	.	.	.	X	629;656;656;503;444	.	ENSP00000278878:E444X	E	+	1	0	PLCH2	2418159	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.196000	0.94978	2.033000	0.60031	0.484000	0.47621	GAG		0.657	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		34	78	1	0	1.61788e-16	1	2.50323e-16	34	78				
LIPC	3990	broad.mit.edu	37	15	58855824	58855824	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:58855824G>T	ENST00000356113.6	+	10	1905	c.1290G>T	c.(1288-1290)tgG>tgT	p.W430C	LIPC_ENST00000299022.5_Missense_Mutation_p.W430C|LIPC_ENST00000414170.3_Missense_Mutation_p.W430C|LIPC_ENST00000433326.2_Missense_Mutation_p.W369C			P11150	LIPC_HUMAN	lipase, hepatic	430	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CCAATGTCTGGGACACGGTCC	0.517																																						ENST00000414170.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1288-1290)tgG>tgT		lipase, hepatic							113.0	91.0	98.0					15																	58855824		2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58855824G>T		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1290G>T	15.37:g.58855824G>T	ENSP00000348425:p.Trp430Cys					LIPC_ENST00000299022.5_Missense_Mutation_p.W430C|LIPC_ENST00000356113.6_Missense_Mutation_p.W430C|LIPC_ENST00000433326.2_Missense_Mutation_p.W369C	p.W430C			P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	9	1577	+		Colorectal(260;0.215)	430			PLAT.		A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.1290G>T	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221532	0.58560	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;T;D;D	0.90620	-2.46;-0.56;-2.46;-2.7	5.9	5.9	0.94986	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.85682	D	0.000000	D	0.96103	0.8730	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95969	0.8968	10	0.87932	D	0	.	20.282	0.98514	0.0:0.0:1.0:0.0	.	369;430	E7EUK6;P11150	.;LIPC_HUMAN	C	430;430;430;369	ENSP00000348425:W430C;ENSP00000395569:W430C;ENSP00000299022:W430C;ENSP00000395002:W369C	ENSP00000299022:W430C	W	+	3	0	LIPC	56643116	1.000000	0.71417	0.997000	0.53966	0.059000	0.15707	8.979000	0.93455	2.786000	0.95864	0.563000	0.77884	TGG		0.517	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			17	29	1	0	1.5739e-10	1	2.225e-10	17	29				
PKHD1L1	93035	broad.mit.edu	37	8	110499017	110499017	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:110499017G>A	ENST00000378402.5	+	59	9951	c.9847G>A	c.(9847-9849)Ggc>Agc	p.G3283S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3283					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGTACTGGTTGGCTCATTCAC	0.383										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(9847-9849)Ggc>Agc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							229.0	224.0	225.0					8																	110499017		1929	4113	6042	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110499017G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9847G>A	8.37:g.110499017G>A	ENSP00000367655:p.Gly3283Ser	HNSCC(38;0.096)					p.G3283S	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		59	9951	+			3283					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9847G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	7.292	0.611361	0.14066	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85171	-1.95;-1.95	5.42	3.29	0.37713	Pectin lyase fold/virulence factor (1);	0.160400	0.56097	N	0.000033	T	0.70649	0.3248	N	0.26130	0.795	0.32853	D	0.506884	B	0.02656	0.0	B	0.09377	0.004	T	0.61544	-0.7041	10	0.11182	T	0.66	.	6.3125	0.21173	0.8181:0.0:0.1819:0.0	.	3283	Q86WI1	PKHL1_HUMAN	S	3283;211	ENSP00000367655:G3283S;ENSP00000437376:G211S	ENSP00000367655:G3283S	G	+	1	0	PKHD1L1	110568193	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	2.647000	0.46639	0.591000	0.29711	0.563000	0.77884	GGC		0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		19	47	0	0	0	1	0	19	47				
PCDHGA6	56109	broad.mit.edu	37	5	140754224	140754224	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140754224C>A	ENST00000517434.1	+	1	574	c.574C>A	c.(574-576)Ccg>Acg	p.P192T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	192	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAAGTACCCGGAGCTGGT	0.582																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(574-576)Ccg>Acg									19.0	21.0	20.0					5																	140754224		1991	4164	6155	SO:0001583	missense	56109							g.chr5:140754224C>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.574C>A	5.37:g.140754224C>A	ENSP00000429601:p.Pro192Thr					PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	p.P192T	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	574	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.574C>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	15.81	2.941949	0.53079	.	.	ENSG00000253731	ENST00000517434	T	0.19938	2.11	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.306666	0.17376	U	0.176482	T	0.50480	0.1618	M	0.93808	3.46	0.09310	N	1	P;P	0.49307	0.915;0.922	B;P	0.53760	0.444;0.734	T	0.54866	-0.8229	10	0.66056	D	0.02	.	15.3896	0.74731	0.0:0.8604:0.1396:0.0	.	192;192	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	T	192	ENSP00000429601:P192T	ENSP00000429601:P192T	P	+	1	0	PCDHGA6	140734408	0.004000	0.15560	0.998000	0.56505	0.933000	0.57130	1.202000	0.32271	2.871000	0.98454	0.655000	0.94253	CCG		0.582	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		6	10	1	0	0.0215528	1	0.0224017	6	10				
TAOK2	9344	broad.mit.edu	37	16	29997052	29997052	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:29997052A>G	ENST00000308893.4	+	15	2905	c.1862A>G	c.(1861-1863)cAg>cGg	p.Q621R	TAOK2_ENST00000279394.3_Missense_Mutation_p.Q621R|TAOK2_ENST00000543033.1_Missense_Mutation_p.Q621R|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q448R	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	621					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGCAGCTCCAGCAGTGCCAG	0.657																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1861-1863)cAg>cGg		TAO kinase 2							15.0	17.0	16.0					16																	29997052		2194	4297	6491	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29997052A>G	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1862A>G	16.37:g.29997052A>G	ENSP00000310094:p.Gln621Arg					TAOK2_ENST00000543033.1_Missense_Mutation_p.Q621R|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q621R|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q448R	p.Q621R	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			15	2905	+			621					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1862A>G	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620533	0.87460	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.49432	0.78;0.78;0.78	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.67011	0.2848	M	0.73962	2.25	0.80722	D	1	D;D;P;P;D	0.69078	0.987;0.997;0.956;0.927;0.983	D;D;P;P;P	0.77557	0.953;0.99;0.72;0.529;0.795	T	0.69030	-0.5253	9	.	.	.	.	13.5899	0.61953	1.0:0.0:0.0:0.0	.	812;448;621;621;621	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	R	621	ENSP00000310094:Q621R;ENSP00000440336:Q621R;ENSP00000279394:Q621R	.	Q	+	2	0	TAOK2	29904553	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.339000	0.96797	1.864000	0.54056	0.383000	0.25322	CAG		0.657	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		9	32	0	0	0	1	0	9	32				
POU4F3	5459	broad.mit.edu	37	5	145719877	145719877	+	Missense_Mutation	SNP	A	A	G	rs398124631		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:145719877A>G	ENST00000230732.4	+	2	976	c.887A>G	c.(886-888)cAg>cGg	p.Q296R	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	296					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGCTATCCAGCCACGTCCT	0.552																																						ENST00000230732.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(886-888)cAg>cGg		POU class 4 homeobox 3							53.0	52.0	52.0					5																	145719877		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719877A>G	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.887A>G	5.37:g.145719877A>G	ENSP00000230732:p.Gln296Arg					CTC-359M8.1_ENST00000515598.1_RNA	p.Q296R	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	976	+			296					O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.887A>G	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.605735	0.66445	.	.	ENSG00000091010	ENST00000230732	D	0.96265	-3.96	4.62	4.62	0.57501	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.068631	0.64402	D	0.000012	D	0.97717	0.9251	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98385	1.0560	10	0.87932	D	0	.	13.1438	0.59450	1.0:0.0:0.0:0.0	.	296	Q15319	PO4F3_HUMAN	R	296	ENSP00000230732:Q296R	ENSP00000230732:Q296R	Q	+	2	0	POU4F3	145700070	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.112000	0.94314	1.922000	0.55676	0.379000	0.24179	CAG		0.552	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		13	35	0	0	0	1	0	13	35				
TMCC1	23023	broad.mit.edu	37	3	129370518	129370518	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:129370518T>C	ENST00000393238.3	-	6	2108	c.1768A>G	c.(1768-1770)Atc>Gtc	p.I590V	TMCC1_ENST00000329333.5_Missense_Mutation_p.I411V|TMCC1_ENST00000426664.2_Missense_Mutation_p.I476V|TMCC1_ENST00000432054.2_Missense_Mutation_p.I266V	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	590						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGGATGTTGATGAGTTTGCCC	0.567																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1768-1770)Atc>Gtc		transmembrane and coiled-coil domain family 1							162.0	143.0	149.0					3																	129370518		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129370518T>C	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1768A>G	3.37:g.129370518T>C	ENSP00000376930:p.Ile590Val					TMCC1_ENST00000432054.2_Missense_Mutation_p.I266V|TMCC1_ENST00000426664.2_Missense_Mutation_p.I476V|TMCC1_ENST00000329333.5_Missense_Mutation_p.I411V	p.I590V	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2108	-			590					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1768A>G	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.512272	0.64522	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	M	0.76433	2.335	0.80722	D	1	P;P	0.42357	0.771;0.777	P;B	0.51918	0.684;0.231	T	0.66814	-0.5828	10	0.42905	T	0.14	-17.1051	15.3476	0.74350	0.0:0.0:0.0:1.0	.	411;590	B4DE04;O94876	.;TMCC1_HUMAN	V	266;590;476;411	ENSP00000404711:I266V;ENSP00000376930:I590V;ENSP00000389892:I476V;ENSP00000327349:I411V	ENSP00000327349:I411V	I	-	1	0	TMCC1	130853208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.863000	0.87023	2.215000	0.71742	0.528000	0.53228	ATC		0.567	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		25	68	0	0	0	1	0	25	68				
PCDH9	5101	broad.mit.edu	37	13	67802364	67802364	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr13:67802364G>T	ENST00000377865.2	-	1	343	c.209C>A	c.(208-210)gCt>gAt	p.A70D	PCDH9_ENST00000328454.5_Missense_Mutation_p.A70D|PCDH9_ENST00000377861.3_Missense_Mutation_p.A70D|PCDH9_ENST00000544246.1_Missense_Mutation_p.A70D|PCDH9_ENST00000456367.1_Missense_Mutation_p.A70D			Q9HC56	PCDH9_HUMAN	protocadherin 9	70	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGCATCCCCAGCTTTAGAAAC	0.478																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(208-210)gCt>gAt		protocadherin 9							69.0	66.0	67.0					13																	67802364		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802364G>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.209C>A	13.37:g.67802364G>T	ENSP00000367096:p.Ala70Asp					PCDH9_ENST00000377865.2_Missense_Mutation_p.A70D|PCDH9_ENST00000377861.3_Missense_Mutation_p.A70D|PCDH9_ENST00000328454.5_Missense_Mutation_p.A70D|PCDH9_ENST00000456367.1_Missense_Mutation_p.A70D	p.A70D	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	900	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	70			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.209C>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753992	0.49362	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.14516	2.5;2.5;2.5;2.5;2.5	5.97	5.97	0.96955	Cadherin, N-terminal (1);Cadherin (3);	0.000000	0.85682	D	0.000000	T	0.23171	0.0560	N	0.20766	0.605	0.80722	D	1	P;P;D;D	0.56035	0.943;0.943;0.968;0.974	P;P;P;P	0.58620	0.698;0.696;0.755;0.842	T	0.01048	-1.1469	10	0.72032	D	0.01	.	20.4238	0.99064	0.0:0.0:1.0:0.0	.	70;70;70;70	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	D	70	ENSP00000442186:A70D;ENSP00000367096:A70D;ENSP00000401699:A70D;ENSP00000332060:A70D;ENSP00000367092:A70D	ENSP00000332060:A70D	A	-	2	0	PCDH9	66700365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.993000	0.88291	2.834000	0.97654	0.650000	0.86243	GCT		0.478	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		13	11	1	0	0.0202918	1	0.0212304	13	11				
KCNH8	131096	broad.mit.edu	37	3	19575568	19575568	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:19575568G>T	ENST00000328405.2	+	16	3567	c.3301G>T	c.(3301-3303)Gat>Tat	p.D1101Y		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1101					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGAAGTGAAAGATAACAAAGC	0.428																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(3301-3303)Gat>Tat		potassium voltage-gated channel, subfamily H (eag-related), member 8							30.0	31.0	31.0					3																	19575568		2199	4299	6498	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19575568G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3301G>T	3.37:g.19575568G>T	ENSP00000328813:p.Asp1101Tyr						p.D1101Y	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			16	3567	+			1101					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.3301G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198529	0.58126	.	.	ENSG00000183960	ENST00000328405	D	0.99270	-5.66	5.61	5.61	0.85477	.	0.000000	0.32258	U	0.006359	D	0.99158	0.9709	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99879	1.1110	9	.	.	.	.	19.6426	0.95764	0.0:0.0:1.0:0.0	.	1101	Q96L42	KCNH8_HUMAN	Y	1101	ENSP00000328813:D1101Y	.	D	+	1	0	KCNH8	19550572	1.000000	0.71417	0.076000	0.20297	0.911000	0.54048	7.159000	0.77483	2.650000	0.89964	0.655000	0.94253	GAT		0.428	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		7	10	1	0	0.000274275	1	0.000309455	7	10				
BAI3	577	broad.mit.edu	37	6	69943213	69943213	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:69943213G>C	ENST00000370598.1	+	18	3333	c.2512G>C	c.(2512-2514)Gga>Cga	p.G838R	BAI3_ENST00000238918.8_Missense_Mutation_p.G44R	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	838	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTCCACCCAGGGATGTAAAAC	0.478																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2512-2514)Gga>Cga		brain-specific angiogenesis inhibitor 3							198.0	180.0	186.0					6																	69943213		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69943213G>C	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2512G>C	6.37:g.69943213G>C	ENSP00000359630:p.Gly838Arg					BAI3_ENST00000238918.8_Missense_Mutation_p.G44R	p.G838R	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			18	3333	+		all_lung(197;0.212)	838			GPS.		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2512G>C	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523636	0.44866	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	D;D	0.84660	-1.88;-1.88	5.37	5.37	0.77165	GPS domain (3);	0.000000	0.85682	D	0.000000	D	0.95462	0.8526	H	0.98178	4.165	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.977	D	0.97035	0.9753	10	0.87932	D	0	.	19.1872	0.93648	0.0:0.0:1.0:0.0	.	44;838	B7Z356;O60242	.;BAI3_HUMAN	R	838;44	ENSP00000359630:G838R;ENSP00000238918:G44R	ENSP00000238918:G44R	G	+	1	0	BAI3	69999934	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.594000	0.74104	2.539000	0.85634	0.454000	0.30748	GGA		0.478	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			31	68	0	0	0	1	0	31	68				
KIAA0226L	80183	broad.mit.edu	37	13	47011869	47011869	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr13:47011869C>T	ENST00000409879.2	-	0	456							Q9H714	K226L_HUMAN	KIAA0226-like											NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TACCACTACACGCATCTTCAC	0.453																																						ENST00000409879.2																			0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26								KIAA0226-like																																						80183							g.chr13:47011869C>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000409879.2:c.-605G>A	13.37:g.47011869C>T										Q9H714	CM018_HUMAN			0	456	-								A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Translation_Start_Site	SNP	ENST00000409879.2	37																																																																																						0.453	KIAA0226L-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000335435.2	NM_025113		3	1	0	0	0	1	0	3	1				
FZD7	8324	broad.mit.edu	37	2	202900192	202900192	+	Silent	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:202900192C>G	ENST00000286201.1	+	1	883	c.822C>G	c.(820-822)acC>acG	p.T274T	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	274					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CCGTTCTCACCTACCTGGTGG	0.642											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1																			0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(820-822)acC>acG		frizzled family receptor 7							115.0	117.0	117.0					2																	202900192		2203	4300	6503	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900192C>G	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.822C>G	2.37:g.202900192C>G			OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.T274T	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN			1	883	+			274					O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.822C>G	CCDS2351.1																																																																																				0.642	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		40	151	0	0	0	1	0	40	151				
ST8SIA3	51046	broad.mit.edu	37	18	55020120	55020120	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:55020120C>T	ENST00000324000.3	+	1	2077	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	15					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TGTGCTGGGGCTGGTCATGCT	0.597																																						ENST00000324000.3																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(43-45)Ctg>Ttg		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3							64.0	62.0	63.0					18																	55020120		2203	4300	6503	SO:0001819	synonymous_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55020120C>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.43C>T	18.37:g.55020120C>T							p.L15L	NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	1	2077	+			15					A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.43C>T	CCDS32834.1																																																																																				0.597	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879		22	20	0	0	0	1	0	22	20				
OLFML2A	169611	broad.mit.edu	37	9	127563740	127563740	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:127563740G>T	ENST00000373580.3	+	5	717	c.717G>T	c.(715-717)gtG>gtT	p.V239V	OLFML2A_ENST00000288815.5_Silent_p.V25V	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	239					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ATGGCAGTGTGCAGAAAAGCT	0.517																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(715-717)gtG>gtT		olfactomedin-like 2A							100.0	97.0	98.0					9																	127563740		2203	4300	6503	SO:0001819	synonymous_variant	169611							g.chr9:127563740G>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.717G>T	9.37:g.127563740G>T						OLFML2A_ENST00000288815.5_Silent_p.V25V	p.V239V	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			5	717	+			239					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Silent	SNP	ENST00000373580.3	37	c.717G>T	CCDS6857.2																																																																																				0.517	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		43	29	1	0	2.00842e-17	1	3.12787e-17	43	29				
SYT15	83849	broad.mit.edu	37	10	46967545	46967545	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:46967545A>G	ENST00000374321.4	-	4	598	c.532T>C	c.(532-534)Tcg>Ccg	p.S178P	RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374323.4_Missense_Mutation_p.S231P|SYT15_ENST00000503753.1_Missense_Mutation_p.S178P|SYT15_ENST00000374325.3_Missense_Mutation_p.S178P	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	178	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CAGGTCTCCGAGGGGGCTTGC	0.627																																					Ovarian(57;1152 1428 19651 37745)	ENST00000374323.3																			0				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						c.(691-693)Tcg>Ccg		synaptotagmin XV							51.0	62.0	58.0					10																	46967545		2046	4191	6237	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46967545A>G	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.532T>C	10.37:g.46967545A>G	ENSP00000363441:p.Ser178Pro					SYT15_ENST00000503753.1_Missense_Mutation_p.S178P|SYT15_ENST00000374321.4_Missense_Mutation_p.S178P|SYT15_ENST00000374325.3_Missense_Mutation_p.S178P	p.S231P			Q9BQS2	SYT15_HUMAN			3	1278	-			178			C2 1.		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.691T>C	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	.	18.95	3.731181	0.69189	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374323;ENST00000374321;ENST00000512997	T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5	4.7	-3.55	0.04639	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.475980	0.23836	N	0.044093	T	0.70168	0.3193	M	0.64997	1.995	0.39912	D	0.974041	B;D	0.59357	0.202;0.985	B;P	0.56916	0.07;0.809	T	0.68477	-0.5398	9	.	.	.	.	6.3844	0.21552	0.3717:0.3809:0.0:0.2474	.	178;178	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	P	178;178;178;231;178;62	ENSP00000363445:S178P;ENSP00000427607:S178P;ENSP00000363443:S231P;ENSP00000363441:S178P;ENSP00000424803:S62P	.	S	-	1	0	SYT15	46387551	0.986000	0.35501	0.482000	0.27366	0.673000	0.39480	0.682000	0.25335	-0.397000	0.07691	0.533000	0.62120	TCG		0.627	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1	NM_031912		12	41	0	0	0	1	0	12	41				
PXDNL	137902	broad.mit.edu	37	8	52321744	52321744	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:52321744A>T	ENST00000356297.4	-	17	2540	c.2440T>A	c.(2440-2442)Ttg>Atg	p.L814M	PXDNL_ENST00000543296.1_Missense_Mutation_p.L814M	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	814					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTGTGGTCCAAGTCGTGCTCT	0.667																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2440-2442)Ttg>Atg		peroxidasin homolog (Drosophila)-like							15.0	19.0	18.0					8																	52321744		2127	4236	6363	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321744A>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2440T>A	8.37:g.52321744A>T	ENSP00000348645:p.Leu814Met					PXDNL_ENST00000543296.1_Missense_Mutation_p.L814M	p.L814M	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2540	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	814					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2440T>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376680	0.24857	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.77229	-1.08;-1.08	3.56	-0.843	0.10744	.	0.180209	0.26518	N	0.023938	T	0.72431	0.3459	L	0.40543	1.245	0.24333	N	0.994992	D	0.56521	0.976	P	0.59546	0.859	T	0.62572	-0.6826	10	0.46703	T	0.11	.	0.418	0.00452	0.4148:0.186:0.2187:0.1805	.	814	A1KZ92	PXDNL_HUMAN	M	814	ENSP00000348645:L814M;ENSP00000444865:L814M	ENSP00000348645:L814M	L	-	1	2	PXDNL	52484297	0.358000	0.24947	0.007000	0.13788	0.013000	0.08279	-0.673000	0.05239	-0.389000	0.07786	-0.321000	0.08615	TTG		0.667	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		9	26	0	0	0	1	0	9	26				
CLDN2	9075	broad.mit.edu	37	X	106144713	106144713	+	Intron	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:106144713T>A	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000276173.4_Missense_Mutation_p.H96L|RIPPLY1_ENST00000411805.1_Intron	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCTGACAGGGTGATGGAACTT	0.502																																						ENST00000276173.4																			0				lung(1)|urinary_tract(1)	2						c.(286-288)cAc>cTc		ripply transcriptional repressor 1							102.0	101.0	101.0					X																	106144713		2030	4170	6200	SO:0001627	intron_variant	92129				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus		g.chrX:106144713T>A	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+979T>A	X.37:g.106144713T>A						CLDN2_ENST00000541806.1_Intron|RIPPLY1_ENST00000411805.1_Intron	p.H96L	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN			3	316	-			96			Ripply homology domain.		B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.287A>T	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061197	0.76187	.	.	ENSG00000147223	ENST00000276173	.	.	.	5.33	5.33	0.75918	.	0.124058	0.52532	D	0.000070	T	0.78407	0.4278	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.81250	-0.1018	9	0.87932	D	0	.	10.9186	0.47150	0.0:0.0:0.0:1.0	.	96	Q0D2K3	RIPP1_HUMAN	L	96	.	ENSP00000276173:H96L	H	-	2	0	RIPPLY1	106031369	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.933000	0.56545	2.043000	0.60533	0.486000	0.48141	CAC		0.502	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			20	13	0	0	0	1	0	20	13				
IPO13	9670	broad.mit.edu	37	1	44433317	44433317	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:44433317G>C	ENST00000372343.3	+	20	3517	c.2855G>C	c.(2854-2856)cGg>cCg	p.R952P	DPH2_ENST00000396758.2_5'Flank|DPH2_ENST00000255108.3_5'Flank|IPO13_ENST00000372339.3_Missense_Mutation_p.R170P|DPH2_ENST00000412950.2_5'Flank	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	952					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGCTGTGCCGGGGTCTCCAT	0.557																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2854-2856)cGg>cCg		importin 13							81.0	74.0	76.0					1																	44433317		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44433317G>C	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2855G>C	1.37:g.44433317G>C	ENSP00000361418:p.Arg952Pro					IPO13_ENST00000372339.3_Missense_Mutation_p.R170P	p.R952P	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			20	3517	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	952					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.2855G>C	CCDS503.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357657	0.82243	.	.	ENSG00000117408	ENST00000372343;ENST00000372339	.	.	.	4.06	4.06	0.47325	.	0.064940	0.64402	D	0.000010	D	0.83234	0.5210	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87090	0.2172	9	0.87932	D	0	-20.4407	16.4512	0.83991	0.0:0.0:1.0:0.0	.	170;952	Q5T4X2;O94829	.;IPO13_HUMAN	P	952;170	.	ENSP00000361414:R170P	R	+	2	0	IPO13	44205904	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.588000	0.82629	2.105000	0.64084	0.450000	0.29827	CGG		0.557	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		5	22	0	0	0	1	0	5	22				
CDH10	1008	broad.mit.edu	37	5	24487835	24487835	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:24487835C>A	ENST00000264463.4	-	12	2811	c.2304G>T	c.(2302-2304)tgG>tgT	p.W768C	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	768					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACCGAGGGCCCCATTCTCGGA	0.408										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(2302-2304)tgG>tgT		cadherin 10, type 2 (T2-cadherin)							166.0	167.0	167.0					5																	24487835		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487835C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2304G>T	5.37:g.24487835C>A	ENSP00000264463:p.Trp768Cys	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.W768C	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2811	-			768					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2304G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875038	0.72180	.	.	ENSG00000040731	ENST00000264463	D	0.83506	-1.73	5.81	5.81	0.92471	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93779	0.8011	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.94733	0.7911	10	0.87932	D	0	.	19.0503	0.93041	0.0:1.0:0.0:0.0	.	768	Q9Y6N8	CAD10_HUMAN	C	768	ENSP00000264463:W768C	ENSP00000264463:W768C	W	-	3	0	CDH10	24523592	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.702000	0.84576	2.750000	0.94351	0.655000	0.94253	TGG		0.408	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		33	63	1	0	2.2171e-23	1	3.59428e-23	33	63				
GLI1	2735	broad.mit.edu	37	12	57865745	57865745	+	Silent	SNP	C	C	A	rs200550278		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:57865745C>A	ENST00000228682.2	+	12	3313	c.3222C>A	c.(3220-3222)acC>acA	p.T1074T	GLI1_ENST00000546141.1_Silent_p.T1033T|GLI1_ENST00000543426.1_Silent_p.T946T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1074					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTGGACATACCCCACCTCCCT	0.552																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(3220-3222)acC>acA		GLI family zinc finger 1							95.0	95.0	95.0					12																	57865745		2203	4300	6503	SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57865745C>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.3222C>A	12.37:g.57865745C>A						GLI1_ENST00000546141.1_Silent_p.T1033T|GLI1_ENST00000543426.1_Silent_p.T946T	p.T1074T	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	3313	+			1074					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.3222C>A	CCDS8940.1																																																																																				0.552	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		14	56	1	0	9.16793e-09	1	1.22325e-08	14	56				
C4orf26	152816	broad.mit.edu	37	4	76489591	76489591	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:76489591C>A	ENST00000311623.4	+	2	370	c.335C>A	c.(334-336)aCt>aAt	p.T112N	C4orf26_ENST00000435974.2_Missense_Mutation_p.L127I	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	112						extracellular region (GO:0005576)				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CGTTACCTTACTTATAGGTAT	0.443																																						ENST00000311623.4																			0				kidney(1)|large_intestine(4)|stomach(1)	6						c.(334-336)aCt>aAt		chromosome 4 open reading frame 26							174.0	184.0	181.0					4																	76489591		2203	4300	6503	SO:0001583	missense	152816					extracellular region		g.chr4:76489591C>A	AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.335C>A	4.37:g.76489591C>A	ENSP00000311307:p.Thr112Asn					C4orf26_ENST00000435974.2_Missense_Mutation_p.L127I	p.T112N	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		2	370	+			112					B4DTI3|E7ETQ0|Q8TEC3	Missense_Mutation	SNP	ENST00000311623.4	37	c.335C>A	CCDS3569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.09|14.09	2.430722|2.430722	0.43122|0.43122	.|.	.|.	ENSG00000174792|ENSG00000174792	ENST00000435974|ENST00000311623	T|T	0.55413|0.35048	0.52|1.33	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	.|2.041490	.|0.02471	.|N	.|0.087571	T|T	0.32071|0.32071	0.0817|0.0817	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	D|P	0.89917|0.47677	1.0|0.899	D|B	0.74674|0.41988	0.984|0.372	T|T	0.39563|0.39563	-0.9608|-0.9608	8|9	.|.	.|.	.|.	.|.	13.3683|13.3683	0.60698|0.60698	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	127|112	E7ETQ0|Q17RF5	.|CD026_HUMAN	I|N	127|112	ENSP00000406925:L127I|ENSP00000311307:T112N	.|.	L|T	+|+	1|2	0|0	C4orf26|C4orf26	76708615|76708615	0.023000|0.023000	0.18921|0.18921	0.341000|0.341000	0.25589|0.25589	0.103000|0.103000	0.19146|0.19146	0.714000|0.714000	0.25808|0.25808	2.611000|2.611000	0.88343|0.88343	0.650000|0.650000	0.86243|0.86243	CTT|ACT		0.443	C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252410.1	NM_178497		36	37	1	0	7.63091e-17	1	1.18454e-16	36	37				
NOC2L	26155	broad.mit.edu	37	1	887493	887493	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:887493C>G	ENST00000327044.6	-	11	1267	c.1218G>C	c.(1216-1218)tgG>tgC	p.W406C	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	406					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCACATACTGCCAGTTGTACA	0.607																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(1216-1218)tgG>tgC		nucleolar complex associated 2 homolog (S. cerevisiae)							72.0	66.0	68.0					1																	887493		2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:887493C>G	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.1218G>C	1.37:g.887493C>G	ENSP00000317992:p.Trp406Cys						p.W406C	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	11	1267	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	406					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.1218G>C	CCDS3.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637058	0.67130	.	.	ENSG00000188976	ENST00000327044	T	0.64260	-0.09	4.18	4.18	0.49190	Armadillo-type fold (1);	0.080168	0.56097	D	0.000035	D	0.83815	0.5336	M	0.93720	3.45	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.992;0.992;0.995	D	0.88877	0.3337	10	0.87932	D	0	-19.2757	16.3391	0.83076	0.0:1.0:0.0:0.0	.	406;406;173	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	C	406	ENSP00000317992:W406C	ENSP00000317992:W406C	W	-	3	0	NOC2L	877356	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.082000	0.76851	2.247000	0.74100	0.467000	0.42956	TGG		0.607	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		18	28	0	0	0	1	0	18	28				
MRPL19	9801	broad.mit.edu	37	2	75879711	75879711	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:75879711G>C	ENST00000393909.2	+	4	428	c.403G>C	c.(403-405)Ggg>Cgg	p.G135R	MRPL19_ENST00000358788.6_Missense_Mutation_p.G135R|MRPL19_ENST00000409374.1_Missense_Mutation_p.G135R	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	135					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(6)	8						CCAGTTTCTGGGGATTTGCAT	0.378																																						ENST00000393909.2																			0				kidney(1)|large_intestine(1)|lung(6)	8						c.(403-405)Ggg>Cgg		mitochondrial ribosomal protein L19							136.0	124.0	128.0					2																	75879711		1833	4083	5916	SO:0001583	missense	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75879711G>C	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.403G>C	2.37:g.75879711G>C	ENSP00000377486:p.Gly135Arg					MRPL19_ENST00000358788.6_Missense_Mutation_p.G135R|MRPL19_ENST00000409374.1_Missense_Mutation_p.G135R	p.G135R	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN			4	428	+			135					Q53TX9|Q96Q52	Missense_Mutation	SNP	ENST00000393909.2	37	c.403G>C	CCDS1960.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914485	0.92178	.	.	ENSG00000115364	ENST00000393909;ENST00000409374	.	.	.	5.39	5.39	0.77823	Translation protein SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.89966	0.6868	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93116	0.6521	9	0.87932	D	0	-24.6253	17.0358	0.86474	0.0:0.0:1.0:0.0	.	135	P49406	RM19_HUMAN	R	135	.	ENSP00000377486:G135R	G	+	1	0	MRPL19	75733219	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.281000	0.95811	2.708000	0.92522	0.650000	0.86243	GGG		0.378	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		16	40	0	0	0	1	0	16	40				
SYNE1	23345	broad.mit.edu	37	6	152545658	152545658	+	Missense_Mutation	SNP	C	C	T	rs150723622		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:152545658C>T	ENST00000367255.5	-	117	22094	c.21493G>A	c.(21493-21495)Gct>Act	p.A7165T	SYNE1_ENST00000341594.5_Missense_Mutation_p.A6777T|SYNE1_ENST00000356820.4_Missense_Mutation_p.A1689T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7165T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7094T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7094T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7165					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTGCACAGCTTCTAAGGAG	0.398										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(21493-21495)Gct>Act		spectrin repeat containing, nuclear envelope 1							98.0	93.0	95.0					6																	152545658		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152545658C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21493G>A	6.37:g.152545658C>T	ENSP00000356224:p.Ala7165Thr	HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Missense_Mutation_p.A1689T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7094T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7165T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A6777T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7094T	p.A7165T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	117	22094	-		Ovarian(120;0.0955)	7165					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.21493G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	34	5.399121	0.96030	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000018	T	0.63593	0.2524	M	0.64567	1.98	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.62320	-0.6879	10	0.59425	D	0.04	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	7165;7165;7094;7094	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	T	7165;7094;7165;7094;6777;1689;87	ENSP00000356224:A7165T;ENSP00000396024:A7094T;ENSP00000265368:A7165T;ENSP00000390975:A7094T;ENSP00000341887:A6777T;ENSP00000349276:A1689T;ENSP00000356220:A87T	ENSP00000265368:A7165T	A	-	1	0	SYNE1	152587351	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.445000	0.80570	2.861000	0.98227	0.655000	0.94253	GCT		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		11	21	0	0	0	1	0	11	21				
ARHGAP36	158763	broad.mit.edu	37	X	130217856	130217856	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:130217856A>G	ENST00000276211.5	+	4	813	c.468A>G	c.(466-468)cgA>cgG	p.R156R	ARHGAP36_ENST00000370922.1_Silent_p.R144R|ARHGAP36_ENST00000370921.1_Silent_p.R20R	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	156	Arg-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ACGTGGTGCGAAGGGTGTTTG	0.622																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(466-468)cgA>cgG		Rho GTPase activating protein 36							77.0	73.0	74.0					X																	130217856		2203	4300	6503	SO:0001819	synonymous_variant	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217856A>G		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.468A>G	X.37:g.130217856A>G						ARHGAP36_ENST00000370921.1_Silent_p.R20R|ARHGAP36_ENST00000370922.1_Silent_p.R144R	p.R156R	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			4	813	+			156			Arg-rich.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	c.468A>G	CCDS14628.1																																																																																				0.622	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		49	16	0	0	0	1	0	49	16				
C12orf43	64897	broad.mit.edu	37	12	121454223	121454223	+	Missense_Mutation	SNP	C	C	G	rs199680654		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:121454223C>G	ENST00000288757.3	-	1	77	c.55G>C	c.(55-57)Gat>Cat	p.D19H	C12orf43_ENST00000536407.2_Missense_Mutation_p.D19H|C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.D19H|C12orf43_ENST00000537817.1_5'UTR	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	19										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCTCCGCATCGCTACTGCTG	0.622																																						ENST00000288757.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14						c.(55-57)Gat>Cat		chromosome 12 open reading frame 43							57.0	55.0	56.0					12																	121454223		2203	4300	6503	SO:0001583	missense	64897							g.chr12:121454223C>G	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.55G>C	12.37:g.121454223C>G	ENSP00000288757:p.Asp19His					C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000536407.2_Missense_Mutation_p.D19H|C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.D19H	p.D19H	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN			1	77	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		19					Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	c.55G>C	CCDS9210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.10|17.10	3.303329|3.303329	0.60195|0.60195	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000288757;ENST00000539736|ENST00000536407	T;T|.	0.55052|.	0.57;0.54|.	5.06|5.06	4.17|4.17	0.49024|0.49024	.|.	0.485338|.	0.25912|.	N|.	0.027495|.	T|T	0.65069|0.65069	0.2656|0.2656	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.68039|.	0.955;0.955;0.955|.	T|T	0.63528|0.63528	-0.6617|-0.6617	10|5	0.62326|.	D|.	0.03|.	-9.5518|-9.5518	8.7284|8.7284	0.34483|0.34483	0.0:0.9001:0.0:0.0999|0.0:0.9001:0.0:0.0999	.|.	19;19;19|.	G5EA44;B4DWJ9;Q96C57|.	.;.;CL043_HUMAN|.	H|P	19|23	ENSP00000288757:D19H;ENSP00000437803:D19H|.	ENSP00000288757:D19H|.	D|R	-|-	1|2	0|0	C12orf43|C12orf43	119938606|119938606	0.998000|0.998000	0.40836|0.40836	0.975000|0.975000	0.42487|0.42487	0.445000|0.445000	0.32107|0.32107	2.018000|2.018000	0.40991|0.40991	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.622	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		27	34	0	0	0	1	0	27	34				
PCDHB6	56130	broad.mit.edu	37	5	140530079	140530079	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140530079C>A	ENST00000231136.1	+	1	241	c.241C>A	c.(241-243)Cat>Aat	p.H81N	PCDHB6_ENST00000543635.1_De_novo_Start_OutOfFrame	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	81	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCACAGACCCATGATTTACT	0.532																																						ENST00000543635.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84															80.0	88.0	85.0					5																	140530079		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530079C>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.241C>A	5.37:g.140530079C>A	ENSP00000231136:p.His81Asn					PCDHB6_ENST00000231136.1_Missense_Mutation_p.H81N				Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	192	+								B2R8R9	Translation_Start_Site	SNP	ENST00000231136.1	37		CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	8.725	0.915390	0.17907	.	.	ENSG00000113211	ENST00000231136	T	0.26518	1.73	4.97	-0.289	0.12851	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	T	0.14700	0.0355	N	0.08118	0	0.80722	D	1	B	0.22851	0.076	B	0.32022	0.139	T	0.12066	-1.0562	9	0.87932	D	0	.	10.4831	0.44706	0.0:0.1657:0.7122:0.1221	.	81	Q9Y5E3	PCDB6_HUMAN	N	81	ENSP00000231136:H81N	ENSP00000231136:H81N	H	+	1	0	PCDHB6	140510263	0.941000	0.31946	0.012000	0.15200	0.253000	0.25986	1.893000	0.39758	0.101000	0.17610	0.561000	0.74099	CAT		0.532	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		30	46	1	0	5.60225e-13	1	8.34191e-13	30	46				
CHML	1122	broad.mit.edu	37	1	241797420	241797420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:241797420C>T	ENST00000366553.1	-	1	1812	c.1649G>A	c.(1648-1650)tGg>tAg	p.W550*	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	550					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATAAAGAGCCCACAAGAGTCT	0.418																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(1648-1650)tGg>tAg		choroideremia-like (Rab escort protein 2)							47.0	48.0	48.0					1																	241797420		2203	4297	6500	SO:0001587	stop_gained	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797420C>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1649G>A	1.37:g.241797420C>T	ENSP00000355511:p.Trp550*					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	p.W550*	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1812	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	550					B2RAB9|Q17RE0|Q9H1Y4	Nonsense_Mutation	SNP	ENST00000366553.1	37	c.1649G>A	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	40	7.916803	0.98560	.	.	ENSG00000203668	ENST00000366553	.	.	.	4.42	4.42	0.53409	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3432	0.74314	0.0:1.0:0.0:0.0	.	.	.	.	X	550	.	ENSP00000355511:W550X	W	-	2	0	CHML	239864043	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.971000	0.70440	2.758000	0.94735	0.563000	0.77884	TGG		0.418	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		9	20	0	0	0	1	0	9	20				
EPHA5	2044	broad.mit.edu	37	4	66535349	66535349	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:66535349C>A	ENST00000273854.3	-	1	712	c.112G>T	c.(112-114)Gct>Tct	p.A38S	EPHA5_ENST00000432638.2_Missense_Mutation_p.A38S|RP11-807H7.1_ENST00000509473.1_lincRNA|EPHA5_ENST00000354839.4_Missense_Mutation_p.A38S|EPHA5_ENST00000511294.1_Missense_Mutation_p.A38S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	38					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CAGAGGGGAGCCCGTCGAGGT	0.751										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(112-114)Gct>Tct		EPH receptor A5							13.0	16.0	15.0					4																	66535349		2189	4292	6481	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66535349C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.112G>T	4.37:g.66535349C>A	ENSP00000273854:p.Ala38Ser	TSP Lung(17;0.13)				EPHA5_ENST00000432638.2_Missense_Mutation_p.A38S|EPHA5_ENST00000354839.4_Missense_Mutation_p.A38S|EPHA5_ENST00000511294.1_Missense_Mutation_p.A38S	p.A38S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			1	712	-			38					Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.112G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430161	0.43122	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.73152	-0.65;-0.72;-0.63;-0.63	5.37	4.52	0.55395	.	0.424017	0.19395	N	0.115310	T	0.50939	0.1645	N	0.14661	0.345	0.25660	N	0.986017	B;B;B;B	0.14438	0.006;0.006;0.01;0.006	B;B;B;B	0.16289	0.007;0.007;0.015;0.007	T	0.33904	-0.9850	10	0.22109	T	0.4	.	10.0105	0.41984	0.0:0.907:0.0:0.093	.	38;38;38;38	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	38	ENSP00000273854:A38S;ENSP00000389208:A38S;ENSP00000346899:A38S;ENSP00000427638:A38S	ENSP00000273854:A38S	A	-	1	0	EPHA5	66217944	0.919000	0.31177	0.995000	0.50966	0.903000	0.53119	2.328000	0.43867	1.380000	0.46344	0.655000	0.94253	GCT		0.751	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		7	13	1	0	5.18039e-06	1	6.29331e-06	7	13				
TFAP2B	7021	broad.mit.edu	37	6	50810895	50810895	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:50810895C>G	ENST00000393655.3	+	7	1342	c.1173C>G	c.(1171-1173)atC>atG	p.I391M	TFAP2B_ENST00000263046.4_Missense_Mutation_p.I400M	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	391				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCGGGGATCCAGAGCTGCC	0.632																																					Pancreas(116;1373 2332 5475 10752)	ENST00000263046.4																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40						c.(1198-1200)atC>atG		transcription factor AP-2 beta (activating enhancer binding protein 2 beta)							66.0	74.0	71.0					6																	50810895		2203	4300	6503	SO:0001583	missense	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810895C>G	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1173C>G	6.37:g.50810895C>G	ENSP00000377265:p.Ile391Met					TFAP2B_ENST00000393655.3_Missense_Mutation_p.I391M	p.I400M			Q92481	AP2B_HUMAN			8	1366	+	Lung NSC(77;0.156)		391	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Missense_Mutation	SNP	ENST00000393655.3	37	c.1200C>G	CCDS4934.2	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213661	0.39102	.	.	ENSG00000008196	ENST00000393655;ENST00000263046	D;D	0.97161	-4.27;-4.27	4.79	-0.298	0.12814	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92469	0.7609	L	0.55834	1.745	0.53688	D	0.999977	P	0.48998	0.918	P	0.49853	0.624	D	0.88397	0.3012	10	0.46703	T	0.11	-16.0275	1.9369	0.03339	0.1583:0.4275:0.1403:0.2739	.	391	Q92481	AP2B_HUMAN	M	391;400	ENSP00000377265:I391M;ENSP00000263046:I400M	ENSP00000263046:I400M	I	+	3	3	TFAP2B	50918854	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	1.610000	0.36869	0.029000	0.15352	-0.274000	0.10170	ATC		0.632	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		55	93	0	0	0	1	0	55	93				
PTPN23	25930	broad.mit.edu	37	3	47451444	47451444	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:47451444G>T	ENST00000265562.4	+	20	2233	c.2156G>T	c.(2155-2157)cGg>cTg	p.R719L	PTPN23_ENST00000431726.1_Missense_Mutation_p.R593L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	719	Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGCCGCCACGGCCCACAGCC	0.677																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(2155-2157)cGg>cTg		protein tyrosine phosphatase, non-receptor type 23							16.0	19.0	18.0					3																	47451444		2199	4294	6493	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47451444G>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2156G>T	3.37:g.47451444G>T	ENSP00000265562:p.Arg719Leu					PTPN23_ENST00000431726.1_Missense_Mutation_p.R593L	p.R719L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	2233	+			719			Pro-rich.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.2156G>T	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350647	0.61183	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.03004	4.08	3.77	3.77	0.43336	.	0.328731	0.28236	N	0.016096	T	0.07908	0.0198	L	0.27053	0.805	0.52501	D	0.999955	D;D	0.60160	0.987;0.976	D;P	0.67725	0.953;0.749	T	0.40040	-0.9584	10	0.39692	T	0.17	-26.0252	10.7074	0.45962	0.0:0.1949:0.8051:0.0	.	593;719	B4DST5;Q9H3S7	.;PTN23_HUMAN	L	684;719	ENSP00000265562:R719L	ENSP00000265562:R719L	R	+	2	0	PTPN23	47426448	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	5.820000	0.69250	1.951000	0.56629	0.455000	0.32223	CGG		0.677	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		4	7	1	0	0.00024832	1	0.000282859	4	7				
ABCA13	154664	broad.mit.edu	37	7	48626772	48626772	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:48626772G>A	ENST00000435803.1	+	57	14552	c.14528G>A	c.(14527-14529)cGc>cAc	p.R4843H	ABCA13_ENST00000544596.1_Missense_Mutation_p.R573H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4843	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCATCAGGCGCTTACACCTC	0.587																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(14527-14529)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 13							46.0	52.0	50.0					7																	48626772		2067	4210	6277	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48626772G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14528G>A	7.37:g.48626772G>A	ENSP00000411096:p.Arg4843His					ABCA13_ENST00000544596.1_Missense_Mutation_p.R573H	p.R4843H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			57	14552	+			4843			ABC transporter 2.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.14528G>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.749431	0.49257	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.93859	-3.3;-3.3;-3.3	5.71	3.88	0.44766	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.128704	0.34268	N	0.004110	D	0.95411	0.8510	M	0.74467	2.265	0.18873	N	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.996;0.999	D	0.88882	0.3340	10	0.62326	D	0.03	.	6.9771	0.24681	0.0792:0.0:0.6077:0.3131	.	573;2545;4843	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	H	4843;616;573	ENSP00000411096:R4843H;ENSP00000391042:R616H;ENSP00000442634:R573H	ENSP00000391042:R616H	R	+	2	0	ABCA13	48597318	0.180000	0.23148	0.043000	0.18650	0.424000	0.31475	2.562000	0.45914	0.733000	0.32492	0.650000	0.86243	CGC		0.587	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		7	8	0	0	0	1	0	7	8				
TNNC2	7125	broad.mit.edu	37	20	44453474	44453474	+	Splice_Site	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:44453474C>A	ENST00000372555.3	-	2	96		c.e2-1		TNNC2_ENST00000372557.1_Splice_Site	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)						muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	GCTGGTCCGTCTGCAGGAGAC	0.612																																						ENST00000372557.1																			0				endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.e3-1		troponin C type 2 (fast)							108.0	112.0	111.0					20																	44453474		2203	4300	6503	SO:0001630	splice_region_variant	7125				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding	g.chr20:44453474C>A		CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.4-1G>T	20.37:g.44453474C>A						TNNC2_ENST00000372555.3_Splice_Site				P02585	TNNC2_HUMAN			3	166	-		Myeloproliferative disorder(115;0.0122)						Q6FH92	Splice_Site	SNP	ENST00000372555.3	37		CCDS13375.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684149	0.68157	.	.	ENSG00000101470	ENST00000372555	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7956	0.85601	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNNC2	43886881	1.000000	0.71417	0.997000	0.53966	0.704000	0.40688	4.314000	0.59166	2.536000	0.85505	0.462000	0.41574	.		0.612	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079524.3	NM_003279	Intron	34	75	1	0	2.2871e-25	1	3.73323e-25	34	75				
EXD1	161829	broad.mit.edu	37	15	41488237	41488237	+	Splice_Site	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:41488237T>A	ENST00000314992.5	-	6	551		c.e6-2		EXD1_ENST00000458580.2_Splice_Site	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1								3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGTGGCCACCTACAATAGACC	0.383																																						ENST00000314992.5																			0				large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						c.e6-2		exonuclease 3'-5' domain containing 1							43.0	43.0	43.0					15																	41488237		2203	4300	6503	SO:0001630	splice_region_variant	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41488237T>A	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.361-2A>T	15.37:g.41488237T>A						EXD1_ENST00000458580.2_Splice_Site		NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN			6	551	-								A8K909|B7Z839|Q6ZW94	Splice_Site	SNP	ENST00000314992.5	37		CCDS10072.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981749	0.74474	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0954	0.65019	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	EXD1	39275529	1.000000	0.71417	0.923000	0.36655	0.886000	0.51366	5.981000	0.70524	2.152000	0.67230	0.379000	0.24179	.		0.383	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596	Intron	5	13	0	0	0	1	0	5	13				
SELP	6403	broad.mit.edu	37	1	169572298	169572298	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:169572298C>A	ENST00000263686.6	-	10	1708	c.1671G>T	c.(1669-1671)tcG>tcT	p.S557S	SELP_ENST00000367786.2_Silent_p.S495S|SELP_ENST00000367793.2_Silent_p.S495S|SELP_ENST00000367788.2_Silent_p.S495S|SELP_ENST00000367791.2_Silent_p.S433S|SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Silent_p.S495S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	557	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	TCCAGCGTCCCGATCGAGTAC	0.448																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1669-1671)tcG>tcT		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						108.0	99.0	102.0					1																	169572298		2203	4300	6503	SO:0001819	synonymous_variant	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169572298C>A	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1671G>T	1.37:g.169572298C>A						SELP_ENST00000367794.2_Silent_p.S495S|SELP_ENST00000367788.2_Silent_p.S495S|SELP_ENST00000367793.2_Silent_p.S495S|SELP_ENST00000367786.2_Silent_p.S495S|SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367791.2_Silent_p.S433S	p.S557S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			10	1708	-	all_hematologic(923;0.208)		557			Sushi 6.		Q5R344|Q8IVD1	Silent	SNP	ENST00000263686.6	37	c.1671G>T	CCDS1282.1																																																																																				0.448	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		13	38	1	0	2.61681e-11	1	3.75525e-11	13	38				
OR6C70	390327	broad.mit.edu	37	12	55863745	55863745	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:55863745A>G	ENST00000327335.4	-	1	177	c.178T>C	c.(178-180)Ttc>Ctc	p.F60L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TTACGGAGGAAGAAATACATT	0.393																																						ENST00000327335.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						c.(178-180)Ttc>Ctc		olfactory receptor, family 6, subfamily C, member 70							50.0	51.0	50.0					12																	55863745		2203	4300	6503	SO:0001583	missense	390327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55863745A>G		CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.178T>C	12.37:g.55863745A>G	ENSP00000329153:p.Phe60Leu					RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	p.F60L	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN			1	177	-			60						Missense_Mutation	SNP	ENST00000327335.4	37	c.178T>C	CCDS31825.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.116111	0.37339	.	.	ENSG00000184954	ENST00000327335	T	0.13778	2.56	3.93	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000111	T	0.32071	0.0817	L	0.60012	1.86	0.26774	N	0.969744	D	0.89917	1.0	D	0.87578	0.998	T	0.03641	-1.1017	10	0.87932	D	0	.	12.9019	0.58130	1.0:0.0:0.0:0.0	.	60	A6NIJ9	O6C70_HUMAN	L	60	ENSP00000329153:F60L	ENSP00000329153:F60L	F	-	1	0	OR6C70	54150012	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	5.706000	0.68362	1.778000	0.52293	0.460000	0.39030	TTC		0.393	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411820.1			5	12	0	0	0	1	0	5	12				
OR4Q3	441669	broad.mit.edu	37	14	20215980	20215980	+	Missense_Mutation	SNP	C	C	A	rs368729783		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:20215980C>A	ENST00000331723.1	+	1	394	c.394C>A	c.(394-396)Cgc>Agc	p.R132S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAACCCTTTGCGCTACCTTAC	0.493																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(394-396)Cgc>Agc		olfactory receptor, family 4, subfamily Q, member 3							120.0	121.0	121.0					14																	20215980		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215980C>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.394C>A	14.37:g.20215980C>A	ENSP00000330049:p.Arg132Ser						p.R132S	NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	394	+	all_cancers(95;0.00108)		132					Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.394C>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	6.906	0.536659	0.13188	.	.	ENSG00000182652	ENST00000331723	T	0.01313	5.02	4.36	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.346500	0.20339	U	0.094276	T	0.02767	0.0083	M	0.77313	2.365	0.23501	N	0.997545	B	0.26935	0.164	B	0.23852	0.049	T	0.22977	-1.0201	10	0.62326	D	0.03	.	9.8188	0.40869	0.0:0.8978:0.0:0.1022	.	132	Q8NH05	OR4Q3_HUMAN	S	132	ENSP00000330049:R132S	ENSP00000330049:R132S	R	+	1	0	OR4Q3	19285820	0.000000	0.05858	1.000000	0.80357	0.056000	0.15407	0.021000	0.13489	1.053000	0.40415	0.406000	0.27484	CGC		0.493	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			18	29	1	0	8.10497e-08	1	1.05476e-07	18	29				
CSTF3	1479	broad.mit.edu	37	11	33106683	33106683	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:33106683G>A	ENST00000323959.4	-	21	2243	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	TCP11L1_ENST00000324357.9_3'UTR	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	702					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGAACAGGGGGGACAACGGCT	0.517																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(2104-2106)Ccc>Tcc		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							96.0	96.0	96.0					11																	33106683		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33106683G>A	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.2104C>T	11.37:g.33106683G>A	ENSP00000315791:p.Pro702Ser					TCP11L1_ENST00000324357.9_3'UTR	p.P702S	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			21	2243	-			702					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.2104C>T	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471330	0.84533	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	M	0.68317	2.08	0.80722	D	1	P	0.46621	0.881	P	0.46796	0.527	T	0.65162	-0.6235	9	0.30854	T	0.27	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	702	Q12996	CSTF3_HUMAN	S	702;635	.	ENSP00000315791:P702S	P	-	1	0	CSTF3	33063259	1.000000	0.71417	0.994000	0.49952	0.793000	0.44817	9.675000	0.98638	2.861000	0.98227	0.650000	0.86243	CCC		0.517	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		12	32	0	0	0	1	0	12	32				
OR10A7	121364	broad.mit.edu	37	12	55615466	55615466	+	Missense_Mutation	SNP	C	C	A	rs138358769		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:55615466C>A	ENST00000326258.1	+	1	658	c.658C>A	c.(658-660)Cgc>Agc	p.R220S		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R220C(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTCCTACACCCGCATTATCAT	0.458																																						ENST00000326258.1																			1	Substitution - Missense(1)	p.R220C(1)	lung(1)	endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(658-660)Cgc>Agc		olfactory receptor, family 10, subfamily A, member 7							185.0	142.0	157.0					12																	55615466		2203	4300	6503	SO:0001583	missense	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615466C>A	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.658C>A	12.37:g.55615466C>A	ENSP00000326718:p.Arg220Ser						p.R220S	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	658	+			220					Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	c.658C>A	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	c	11.68	1.710414	0.30322	.	.	ENSG00000179919	ENST00000326258	T	0.00099	8.73	4.08	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.343534	0.20973	N	0.082345	T	0.00109	0.0003	L	0.31526	0.94	0.09310	N	1	B	0.32010	0.351	B	0.35312	0.2	T	0.04242	-1.0966	10	0.25106	T	0.35	.	7.2382	0.26082	0.0:0.6365:0.0:0.3635	.	220	Q8NGE5	O10A7_HUMAN	S	220	ENSP00000326718:R220S	ENSP00000326718:R220S	R	+	1	0	OR10A7	53901733	0.000000	0.05858	0.028000	0.17463	0.640000	0.38277	-2.056000	0.01396	0.498000	0.27948	0.637000	0.83480	CGC		0.458	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			14	21	1	0	4.36969e-10	1	6.14084e-10	14	21				
PREX1	57580	broad.mit.edu	37	20	47273679	47273679	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:47273679G>C	ENST00000371941.3	-	18	2044	c.2022C>G	c.(2020-2022)gaC>gaG	p.D674E	PREX1_ENST00000396220.1_Missense_Mutation_p.D674E	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	674	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGAACACCAGGTCCTCATTGA	0.612											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(2020-2022)gaC>gaG		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							96.0	73.0	80.0					20																	47273679		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47273679G>C	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2022C>G	20.37:g.47273679G>C	ENSP00000361009:p.Asp674Glu		OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PREX1_ENST00000371941.3_Missense_Mutation_p.D674E	p.D674E			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		18	2044	-			674			PDZ.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.2022C>G	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.264829	0.80358	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.15603	2.41;2.41	5.12	3.18	0.36537	PDZ/DHR/GLGF (2);	0.000000	0.56097	U	0.000023	T	0.15955	0.0384	L	0.34521	1.04	0.50313	D	0.999865	P	0.49090	0.919	P	0.45998	0.5	T	0.01444	-1.1353	10	0.62326	D	0.03	.	9.6933	0.40143	0.2828:0.0:0.7172:0.0	.	674	Q8TCU6	PREX1_HUMAN	E	674	ENSP00000361009:D674E;ENSP00000379522:D674E	ENSP00000361009:D674E	D	-	3	2	PREX1	46707086	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.146000	0.58072	0.567000	0.29293	0.561000	0.74099	GAC		0.612	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		6	15	0	0	0	1	0	6	15				
KIAA0408	9729	broad.mit.edu	37	6	127771048	127771048	+	Splice_Site	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:127771048T>C	ENST00000483725.3	-	4	835		c.e4-2		SOGA3_ENST00000556132.1_Splice_Site|SOGA3_ENST00000481848.2_Splice_Site	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408											endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTCAAGAGCCTTTACACATAT	0.408																																						ENST00000556132.1																			0											c.e10-2		SOGA family member 3							115.0	114.0	115.0					6																	127771048		2203	4300	6503	SO:0001630	splice_region_variant	387104					integral to membrane		g.chr6:127771048T>C	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.499-2A>G	6.37:g.127771048T>C						SOGA3_ENST00000481848.2_Splice_Site|KIAA0408_ENST00000483725.3_Splice_Site		NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			10	4528	-								B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Splice_Site	SNP	ENST00000483725.3	37		CCDS34531.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975267	0.74360	.	.	ENSG00000189367	ENST00000483725;ENST00000487331	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9869	0.80160	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0408	127812741	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	6.828000	0.75308	2.171000	0.68590	0.533000	0.62120	.		0.408	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702	Intron	13	21	0	0	0	1	0	13	21				
RYR2	6262	broad.mit.edu	37	1	237604783	237604783	+	Splice_Site	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:237604783G>C	ENST00000366574.2	+	13	1487	c.1170G>C	c.(1168-1170)aaG>aaC	p.K390N	RYR2_ENST00000360064.6_Splice_Site_p.K388N|RYR2_ENST00000542537.1_Splice_Site_p.K374N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	390	MIR 5. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACAACGTAAGGTAAGGTGAT	0.353																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.e13+1		ryanodine receptor 2 (cardiac)							108.0	100.0	102.0					1																	237604783		1842	4100	5942	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237604783G>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1170+1G>C	1.37:g.237604783G>C						RYR2_ENST00000360064.6_Splice_Site_p.K388_splice|RYR2_ENST00000542537.1_Splice_Site_p.K374_splice	p.K390_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		13	1487	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	390			MIR 5.		Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.1170_splice	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306491	0.81247	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.90444	-2.67;-2.67;-2.67	5.34	5.34	0.76211	MIR motif (1);MIR (2);	0.000000	0.64402	D	0.000003	D	0.93000	0.7772	M	0.79475	2.455	0.80722	D	1	P	0.52692	0.955	P	0.48488	0.579	D	0.93877	0.7167	10	0.87932	D	0	.	19.3955	0.94605	0.0:0.0:1.0:0.0	.	390	Q92736	RYR2_HUMAN	N	390;388;374	ENSP00000355533:K390N;ENSP00000353174:K388N;ENSP00000443798:K374N	ENSP00000353174:K388N	K	+	3	2	RYR2	235671406	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	9.554000	0.98121	2.645000	0.89757	0.655000	0.94253	AAG		0.353	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Missense_Mutation	8	20	0	0	0	1	0	8	20				
CHD9	80205	broad.mit.edu	37	16	53308168	53308168	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:53308168G>C	ENST00000398510.3	+	23	5008	c.4921G>C	c.(4921-4923)Gtt>Ctt	p.V1641L	CHD9_ENST00000447540.1_Missense_Mutation_p.V1641L|CHD9_ENST00000566029.1_Missense_Mutation_p.V1641L|CHD9_ENST00000564845.1_Missense_Mutation_p.V1641L			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1641					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAAGCAAGAAGTTATTGGAAA	0.323																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(4921-4923)Gtt>Ctt		chromodomain helicase DNA binding protein 9							131.0	112.0	118.0					16																	53308168		1824	4091	5915	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53308168G>C	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4921G>C	16.37:g.53308168G>C	ENSP00000381522:p.Val1641Leu					CHD9_ENST00000398510.3_Missense_Mutation_p.V1641L|CHD9_ENST00000564845.1_Missense_Mutation_p.V1641L|CHD9_ENST00000447540.1_Missense_Mutation_p.V1641L	p.V1641L			Q3L8U1	CHD9_HUMAN			24	5130	+		all_cancers(37;0.0212)	1641					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.4921G>C		.	.	.	.	.	.	.	.	.	.	G	19.26	3.793030	0.70452	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.94828	-3.53;-3.53	5.6	5.6	0.85130	.	0.000000	0.51477	D	0.000096	D	0.93533	0.7936	L	0.46157	1.445	0.58432	D	0.999997	B;B;B;B	0.33694	0.01;0.421;0.01;0.018	B;B;B;B	0.38842	0.012;0.283;0.012;0.028	D	0.92928	0.6361	10	0.62326	D	0.03	-8.3609	19.2099	0.93749	0.0:0.0:1.0:0.0	.	9;1641;1641;1641	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	L	1641;1641;9	ENSP00000396345:V1641L;ENSP00000381522:V1641L	ENSP00000381522:V1641L	V	+	1	0	CHD9	51865669	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.408000	0.80041	2.644000	0.89710	0.563000	0.77884	GTT		0.323	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		2	1	0	0	0	1	0	2	1				
AKAP9	10142	broad.mit.edu	37	7	91643574	91643574	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:91643574A>T	ENST00000359028.2	+	11	3805	c.3580A>T	c.(3580-3582)Aag>Tag	p.K1194*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.K1194*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.K1182*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1194					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGATGAAGGAAAGCCTTTACA	0.313			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(3580-3582)Aag>Tag		A kinase (PRKA) anchor protein 9							89.0	87.0	88.0					7																	91643574		2203	4300	6503	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91643574A>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.3580A>T	7.37:g.91643574A>T	ENSP00000351922:p.Lys1194*					AKAP9_ENST00000358100.2_Nonsense_Mutation_p.K1194*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.K1182*	p.K1194*			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		11	3805	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1194					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.3580A>T		.	.	.	.	.	.	.	.	.	.	A	41	8.973715	0.99021	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.907	0.19006	0.6724:0.1665:0.0:0.1611	.	.	.	.	X	1182;1194;1194;1194;1194	.	ENSP00000348573:K1182X	K	+	1	0	AKAP9	91481510	0.887000	0.30362	0.895000	0.35142	0.803000	0.45373	1.726000	0.38085	1.771000	0.52183	0.528000	0.53228	AAG		0.313	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		9	9	0	0	0	1	0	9	9				
OR5AN1	390195	broad.mit.edu	37	11	59132570	59132570	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:59132570A>G	ENST00000313940.2	+	1	686	c.639A>G	c.(637-639)ctA>ctG	p.L213L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CAAGTGCCCTAGTTATCATGA	0.423																																						ENST00000313940.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						c.(637-639)ctA>ctG		olfactory receptor, family 5, subfamily AN, member 1							215.0	190.0	199.0					11																	59132570		2201	4295	6496	SO:0001819	synonymous_variant	390195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59132570A>G	AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.639A>G	11.37:g.59132570A>G							p.L213L	NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN			1	686	+			213					B9EIS2|Q6IEV4	Silent	SNP	ENST00000313940.2	37	c.639A>G	CCDS31559.1																																																																																				0.423	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394231.1	NM_001004729		23	40	0	0	0	1	0	23	40				
KCNC4	3749	broad.mit.edu	37	1	110765816	110765816	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:110765816C>T	ENST00000369787.3	+	2	936	c.909C>T	c.(907-909)tgC>tgT	p.C303C	KCNC4_ENST00000438661.2_Silent_p.C303C|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.C303C	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	303					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCGTGTGCTGCCCCGACACGC	0.592																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(907-909)tgC>tgT		potassium voltage-gated channel, Shaw-related subfamily, member 4							279.0	205.0	230.0					1																	110765816		2203	4300	6503	SO:0001819	synonymous_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110765816C>T	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.909C>T	1.37:g.110765816C>T						KCNC4_ENST00000413138.3_Silent_p.C303C|KCNC4_ENST00000438661.2_Silent_p.C303C|KCNC4_ENST00000412512.2_Intron	p.C303C	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	936	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	303					Q3MIM4|Q5TBI6	Silent	SNP	ENST00000369787.3	37	c.909C>T	CCDS821.1																																																																																				0.592	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		34	57	0	0	0	1	0	34	57				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	50	0	0	0	1	0	4	50				
SCGB1D1	10648	broad.mit.edu	37	11	61959555	61959555	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:61959555G>A	ENST00000306238.3	+	2	152	c.83G>A	c.(82-84)gGt>gAt	p.G28D		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	28						extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						CAAGCTCTTGGTTCTGAAATC	0.428																																						ENST00000306238.3																			0				endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						c.(82-84)gGt>gAt		secretoglobin, family 1D, member 1							65.0	63.0	64.0					11																	61959555		2202	4299	6501	SO:0001583	missense	10648					extracellular space	binding	g.chr11:61959555G>A	AJ224171	CCDS8015.1	11q13	2011-12-14			ENSG00000168515	ENSG00000168515		"""Secretoglobins"""	18395	protein-coding gene	gene with protein product	"""prostatein-like lipophilin A"", ""lipophilin A (uteroglobin family member)"""	615060				9720917, 10066439, 22155607	Standard	NM_006552		Approved	LPHA, LIPA, MGC71958	uc001nsz.1	O95968	OTTHUMG00000167505	ENST00000306238.3:c.83G>A	11.37:g.61959555G>A	ENSP00000303070:p.Gly28Asp						p.G28D	NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN			2	152	+			28						Missense_Mutation	SNP	ENST00000306238.3	37	c.83G>A	CCDS8015.1	.	.	.	.	.	.	.	.	.	.	G	4.167	0.029470	0.08054	.	.	ENSG00000168515	ENST00000306238	T	0.11495	2.77	3.75	-7.5	0.01351	.	2.260690	0.02956	U	0.142336	T	0.05777	0.0151	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25012	-1.0144	9	0.35671	T	0.21	.	1.2263	0.01934	0.3072:0.1324:0.1093:0.4511	.	28	O95968	SG1D1_HUMAN	D	28	ENSP00000303070:G28D	ENSP00000303070:G28D	G	+	2	0	SCGB1D1	61716131	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.157000	0.00283	-2.830000	0.00339	-1.087000	0.02190	GGT		0.428	SCGB1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394856.1	NM_006552		10	19	0	0	0	1	0	10	19				
SLC16A14	151473	broad.mit.edu	37	2	230914587	230914587	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:230914587C>T	ENST00000295190.4	-	3	751	c.293G>A	c.(292-294)gGg>gAg	p.G98E		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CTGGCGGCACCCACAGGTGTT	0.468																																						ENST00000295190.4																			0				NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(292-294)gGg>gAg		solute carrier family 16, member 14							51.0	51.0	51.0					2																	230914587		2203	4300	6503	SO:0001583	missense	151473					integral to membrane|plasma membrane	symporter activity	g.chr2:230914587C>T	BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.293G>A	2.37:g.230914587C>T	ENSP00000295190:p.Gly98Glu						p.G98E	NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)	3	751	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)	98					A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	ENST00000295190.4	37	c.293G>A	CCDS2473.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433021	0.83776	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.78481	-1.18;-1.18;-1.18	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000021	D	0.89065	0.6609	M	0.83692	2.655	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.994;1.0	D	0.90756	0.4661	10	0.87932	D	0	.	18.0841	0.89452	0.0:1.0:0.0:0.0	.	98;98	E7EMG7;Q7RTX9	.;MOT14_HUMAN	E	98	ENSP00000295190:G98E;ENSP00000400352:G98E;ENSP00000395775:G98E	ENSP00000295190:G98E	G	-	2	0	SLC16A14	230622831	1.000000	0.71417	0.994000	0.49952	0.670000	0.39368	6.303000	0.72794	2.490000	0.84030	0.655000	0.94253	GGG		0.468	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256918.2	NM_152527		16	28	0	0	0	1	0	16	28				
BHMT2	23743	broad.mit.edu	37	5	78379197	78379197	+	Splice_Site	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:78379197G>C	ENST00000255192.3	+	6	847	c.781G>C	c.(781-783)Gga>Cga	p.G261R	BHMT2_ENST00000521567.1_Splice_Site_p.G197R|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	261	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	ATATCCCTTTGGTAAGCTCAG	0.488																																						ENST00000255192.3																			0				endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15						c.e6+1		betaine--homocysteine S-methyltransferase 2	L-Methionine(DB00134)						54.0	56.0	55.0					5																	78379197		2203	4300	6503	SO:0001630	splice_region_variant	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78379197G>C		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.781+1G>C	5.37:g.78379197G>C						DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Splice_Site_p.G197_splice	p.G261_splice	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	6	847	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	261			Hcy-binding.		B7Z516|Q9NXX7	Splice_Site	SNP	ENST00000255192.3	37	c.781_splice	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	G	32	5.171744	0.94807	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	T;T	0.29917	1.55;1.55	5.53	5.53	0.82687	Homocysteine S-methyltransferase (4);	0.349891	0.32518	N	0.005991	T	0.58018	0.2093	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.988	D;D	0.71870	0.975;0.941	T	0.59883	-0.7370	10	0.62326	D	0.03	-1.7608	19.466	0.94939	0.0:0.0:1.0:0.0	.	197;261	B7Z516;Q9H2M3	.;BHMT2_HUMAN	R	261;197	ENSP00000255192:G261R;ENSP00000430278:G197R	ENSP00000255192:G261R	G	+	1	0	BHMT2	78414953	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.535000	0.82014	2.607000	0.88179	0.655000	0.94253	GGA		0.488	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614	Missense_Mutation	9	17	0	0	0	1	0	9	17				
LAMA1	284217	broad.mit.edu	37	18	6956694	6956694	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr18:6956694G>T	ENST00000389658.3	-	56	8128	c.8035C>A	c.(8035-8037)Cct>Act	p.P2679T	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2679					axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GCCAGCTTAGGCCTTTCTGAC	0.522																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8035-8037)Cct>Act		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						71.0	72.0	72.0					18																	6956694		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6956694G>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8035C>A	18.37:g.6956694G>T	ENSP00000374309:p.Pro2679Thr					RP11-781P6.1_ENST00000584722.1_RNA	p.P2679T	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			56	8128	-		Colorectal(10;0.172)	2679						Missense_Mutation	SNP	ENST00000389658.3	37	c.8035C>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390241	0.42410	.	.	ENSG00000101680	ENST00000389658	T	0.18810	2.19	5.48	1.52	0.23074	.	0.145714	0.46145	D	0.000301	T	0.35038	0.0918	M	0.69823	2.125	0.24980	N	0.991601	D	0.76494	0.999	D	0.64687	0.928	T	0.14531	-1.0469	10	0.62326	D	0.03	.	4.2009	0.10466	0.1446:0.1246:0.6018:0.129	.	2679	P25391	LAMA1_HUMAN	T	2679	ENSP00000374309:P2679T	ENSP00000374309:P2679T	P	-	1	0	LAMA1	6946694	0.931000	0.31567	0.001000	0.08648	0.304000	0.27724	1.554000	0.36266	-0.011000	0.14247	-0.122000	0.15005	CCT		0.522	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		209	35	1	0	2.05961e-90	1	3.42068e-90	209	35				
FAM13C	220965	broad.mit.edu	37	10	61007384	61007384	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:61007384T>C	ENST00000373868.2	-	14	1835	c.1748A>G	c.(1747-1749)aAa>aGa	p.K583R	FAM13C_ENST00000277705.6_Missense_Mutation_p.K603R|FAM13C_ENST00000468840.2_Missense_Mutation_p.K500R|PHYHIPL_ENST00000373878.3_3'UTR|FAM13C_ENST00000442566.3_Missense_Mutation_p.K604R|FAM13C_ENST00000373867.3_Missense_Mutation_p.K499R|FAM13C_ENST00000419214.2_Missense_Mutation_p.K485R|PHYHIPL_ENST00000373880.4_3'UTR	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	583										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCAAATAGTTTTGGCCACATC	0.363																																						ENST00000373867.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1495-1497)aAa>aGa		family with sequence similarity 13, member C							275.0	247.0	256.0					10																	61007384		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61007384T>C	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1748A>G	10.37:g.61007384T>C	ENSP00000362975:p.Lys583Arg					PHYHIPL_ENST00000373880.4_3'UTR|PHYHIPL_ENST00000373878.3_3'UTR|FAM13C_ENST00000373868.2_Missense_Mutation_p.K583R|FAM13C_ENST00000277705.6_Missense_Mutation_p.K603R|FAM13C_ENST00000419214.2_Missense_Mutation_p.K485R|FAM13C_ENST00000468840.2_Missense_Mutation_p.K500R|FAM13C_ENST00000442566.3_Missense_Mutation_p.K604R	p.K499R	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN			15	1961	-			583					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1496A>G	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515516	0.85389	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840	T;T;T;T	0.55234	0.64;0.59;0.53;0.64	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.71367	0.3331	M	0.65975	2.015	0.39822	D	0.972848	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.991;0.999	T	0.75320	-0.3359	10	0.66056	D	0.02	-14.7257	16.087	0.81065	0.0:0.0:0.0:1.0	.	499;485;583	B7ZB77;Q8NE31-3;Q8NE31	.;.;FA13C_HUMAN	R	499;583;604;603;485;500	ENSP00000362975:K583R;ENSP00000395661:K604R;ENSP00000277705:K603R;ENSP00000391993:K485R	ENSP00000277705:K603R	K	-	2	0	FAM13C	60677390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.950000	0.70265	2.202000	0.70862	0.533000	0.62120	AAA		0.363	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			23	47	0	0	0	1	0	23	47				
TERF1	7013	broad.mit.edu	37	8	73958220	73958220	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:73958220A>T	ENST00000276603.5	+	10	1191	c.1168A>T	c.(1168-1170)Aat>Tat	p.N390Y	TERF1_ENST00000276602.6_Missense_Mutation_p.N370Y|RP11-531A24.7_ENST00000607665.1_RNA	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	390	HTH myb-type. {ECO:0000255|PROSITE- ProRule:PRU00625}.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AGAAGACAAGAATTTGAGATC	0.333																																						ENST00000276602.6																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(1108-1110)Aat>Tat		telomeric repeat binding factor (NIMA-interacting) 1							61.0	61.0	61.0					8																	73958220		2203	4300	6503	SO:0001583	missense	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73958220A>T	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.1168A>T	8.37:g.73958220A>T	ENSP00000276603:p.Asn390Tyr					TERF1_ENST00000276603.5_Missense_Mutation_p.N390Y	p.N370Y	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		9	1131	+	Breast(64;0.218)		390			Interaction with RLIM.		A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	ENST00000276603.5	37	c.1108A>T	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658247	0.67586	.	.	ENSG00000147601	ENST00000276603;ENST00000276602	T;T	0.42513	0.97;0.97	5.52	4.3	0.51218	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.603398	0.18065	N	0.152812	T	0.43523	0.1251	N	0.16368	0.405	0.23401	N	0.997751	D;D	0.67145	0.975;0.996	P;D	0.64877	0.8;0.93	T	0.20940	-1.0260	10	0.45353	T	0.12	.	10.5467	0.45064	0.7147:0.2853:0.0:0.0	.	370;390	P54274-2;P54274	.;TERF1_HUMAN	Y	390;370	ENSP00000276603:N390Y;ENSP00000276602:N370Y	ENSP00000276602:N370Y	N	+	1	0	TERF1	74120774	0.967000	0.33354	0.974000	0.42286	0.985000	0.73830	1.307000	0.33516	2.096000	0.63516	0.455000	0.32223	AAT		0.333	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		15	14	0	0	0	1	0	15	14				
DUOX2	50506	broad.mit.edu	37	15	45404788	45404788	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:45404788A>T	ENST00000603300.1	-	4	491	c.289T>A	c.(289-291)Tcg>Acg	p.S97T	DUOX2_ENST00000389039.6_Missense_Mutation_p.S97T|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	97	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGTGGAGCGACGGCAGGCCG	0.677																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(289-291)Tcg>Acg		dual oxidase 2							32.0	33.0	32.0					15																	45404788		2196	4289	6485	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45404788A>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.289T>A	15.37:g.45404788A>T	ENSP00000475084:p.Ser97Thr					DUOX2_ENST00000603300.1_Missense_Mutation_p.S97T	p.S97T			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	4	674	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	97			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.289T>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114470	0.77210	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	M	0.84846	2.72	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.83454	0.0050	9	0.54805	T	0.06	-19.7701	15.3856	0.74699	1.0:0.0:0.0:0.0	.	97	Q9NRD8	DUOX2_HUMAN	T	97	.	ENSP00000373691:S97T	S	-	1	0	DUOX2	43192080	1.000000	0.71417	0.133000	0.22050	0.122000	0.20287	7.023000	0.76437	2.234000	0.73211	0.459000	0.35465	TCG		0.677	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		34	61	0	0	0	1	0	34	61				
SUPT6H	6830	broad.mit.edu	37	17	27027531	27027531	+	Splice_Site	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:27027531G>T	ENST00000314616.6	+	35	5089		c.e35+1		SUPT6H_ENST00000347486.4_Splice_Site	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGCTTACCACGTATGTGGCTT	0.637																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.e35+1		suppressor of Ty 6 homolog (S. cerevisiae)							54.0	56.0	56.0					17																	27027531		2203	4300	6503	SO:0001630	splice_region_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027531G>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4806+1G>T	17.37:g.27027531G>T						SUPT6H_ENST00000347486.4_Splice_Site		NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			35	5089	+	Lung NSC(42;0.00431)							A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Splice_Site	SNP	ENST00000314616.6	37		CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029069	0.75504	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4501	0.90700	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SUPT6H	24051658	1.000000	0.71417	0.990000	0.47175	0.765000	0.43378	9.121000	0.94375	2.364000	0.80123	0.650000	0.86243	.		0.637	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	Intron	26	39	1	0	7.16444e-05	1	8.34095e-05	26	39				
CTCFL	140690	broad.mit.edu	37	20	56094387	56094387	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:56094387A>G	ENST00000608263.1	-	3	1462	c.801T>C	c.(799-801)tcT>tcC	p.S267S	CTCFL_ENST00000432255.2_Silent_p.S267S|CTCFL_ENST00000371196.2_Silent_p.S267S|CTCFL_ENST00000429804.3_Silent_p.S267S|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Silent_p.S267S|CTCFL_ENST00000608158.1_Silent_p.S267S|CTCFL_ENST00000423479.3_Silent_p.S267S|CTCFL_ENST00000539382.1_Silent_p.S62S|CTCFL_ENST00000608425.1_Silent_p.S267S|CTCFL_ENST00000422869.2_Silent_p.S267S|CTCFL_ENST00000433949.3_Silent_p.S62S|CTCFL_ENST00000609232.1_Silent_p.S267S|CTCFL_ENST00000608903.1_Silent_p.S5S|CTCFL_ENST00000481655.2_Silent_p.S267S|CTCFL_ENST00000608440.1_Silent_p.S267S|CTCFL_ENST00000502686.2_Silent_p.S5S	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	267					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTGACATTCTAGAAGAGGTGA	0.418																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(799-801)tcT>tcC		CCCTC-binding factor (zinc finger protein)-like							140.0	129.0	132.0					20																	56094387		2203	4300	6503	SO:0001819	synonymous_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56094387A>G		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.801T>C	20.37:g.56094387A>G						CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000371196.2_Silent_p.S267S|CTCFL_ENST00000502686.2_Silent_p.S5S|CTCFL_ENST00000429804.2_Silent_p.S267S|CTCFL_ENST00000422869.2_Silent_p.S267S|CTCFL_ENST00000423479.2_Silent_p.S267S|CTCFL_ENST00000433949.2_Silent_p.S267S|CTCFL_ENST00000243914.3_Silent_p.S267S|CTCFL_ENST00000539382.1_Silent_p.S62S|CTCFL_ENST00000422109.2_Silent_p.S267S|CTCFL_ENST00000432255.2_Silent_p.S267S	p.S267S			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		3	1462	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		267					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	c.801T>C	CCDS13459.1																																																																																				0.418	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		25	56	0	0	0	1	0	25	56				
CUL3	8452	broad.mit.edu	37	2	225342967	225342967	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:225342967G>A	ENST00000264414.4	-	15	2463	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W	CUL3_ENST00000409096.1_Missense_Mutation_p.R685W|CUL3_ENST00000409777.1_Missense_Mutation_p.R685W|CUL3_ENST00000344951.4_Missense_Mutation_p.R643W	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	709					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTCATTATCCGCACTATAGCA	0.408																																						ENST00000264414.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(2125-2127)Cgg>Tgg		cullin 3							194.0	175.0	181.0					2																	225342967		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225342967G>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2125C>T	2.37:g.225342967G>A	ENSP00000264414:p.Arg709Trp					CUL3_ENST00000344951.4_Missense_Mutation_p.R643W|CUL3_ENST00000409096.1_Missense_Mutation_p.R685W|CUL3_ENST00000409777.1_Missense_Mutation_p.R685W	p.R709W	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	15	2463	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	709					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.2125C>T	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090121	0.94149	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	D;D;D;D	0.86956	-1.91;-1.59;-2.19;-2.19	6.17	4.29	0.51040	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.052754	0.85682	D	0.000000	D	0.96178	0.8754	H	0.99391	4.545	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96557	0.9412	10	0.87932	D	0	.	11.0443	0.47849	0.066:0.0:0.8046:0.1294	.	643;687;709	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	W	709;643;685;685	ENSP00000264414:R709W;ENSP00000343601:R643W;ENSP00000387200:R685W;ENSP00000386525:R685W	ENSP00000264414:R709W	R	-	1	2	CUL3	225051211	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.365000	0.66116	1.627000	0.50400	0.655000	0.94253	CGG		0.408	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			17	15	0	0	0	1	0	17	15				
CDH18	1016	broad.mit.edu	37	5	19473364	19473364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:19473364C>A	ENST00000507958.1	-	15	3334	c.2344G>T	c.(2344-2346)Gga>Tga	p.G782*	CDH18_ENST00000382275.1_Nonsense_Mutation_p.G782*|CDH18_ENST00000274170.4_Nonsense_Mutation_p.G782*|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	782					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTATTTCTCCATAGAGTTCA	0.438																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(2344-2346)Gga>Tga		cadherin 18, type 2							81.0	85.0	83.0					5																	19473364		2203	4300	6503	SO:0001587	stop_gained	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473364C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2344G>T	5.37:g.19473364C>A	ENSP00000425093:p.Gly782*					CDH18_ENST00000274170.4_Nonsense_Mutation_p.G782*|CDH18_ENST00000382275.1_Nonsense_Mutation_p.G782*|CDH18_ENST00000510297.1_5'UTR	p.G782*			Q13634	CAD18_HUMAN			15	3334	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		782					A8K0I2|B4DHG6|Q8N5Z2	Nonsense_Mutation	SNP	ENST00000507958.1	37	c.2344G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	47	13.551055	0.99749	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	.	.	.	5.21	5.21	0.72293	.	0.058874	0.64402	D	0.000002	.	.	.	.	.	.	0.51767	D	0.999934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6979	0.88286	0.0:1.0:0.0:0.0	.	.	.	.	X	782	.	.	G	-	1	0	CDH18	19509121	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.457000	0.60088	2.600000	0.87896	0.655000	0.94253	GGA		0.438	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		11	32	1	0	3.86212e-05	1	4.51849e-05	11	32				
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G	rs371409680		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:7577090C>G	ENST00000269305.4	-	8	1037	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000420246.2_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCTCTGTGCGCCGGTCTCT	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		73	Substitution - Missense(44)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(7)|Insertion - Frameshift(2)|Unknown(2)|Complex - deletion inframe(1)	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)	lung(13)|upper_aerodigestive_tract(10)|urinary_tract(9)|haematopoietic_and_lymphoid_tissue(6)|large_intestine(5)|breast(5)|ovary(4)|bone(4)|stomach(3)|central_nervous_system(3)|oesophagus(3)|pancreas(2)|autonomic_ganglia(2)|liver(2)|cervix(1)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM021154	TP53	M		c.(847-849)cGc>cCc	Other conserved DNA damage response genes	tumor protein p53							86.0	73.0	78.0					17																	7577090		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577090C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.848G>C	17.37:g.7577090C>G	ENSP00000269305:p.Arg283Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P	p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	980	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	283		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.848G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692626	0.68271	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	4.99	4.02	0.46733	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.056377	0.64402	D	0.000003	D	0.99641	0.9868	M	0.78049	2.395	0.28236	N	0.925907	P;D;D;P	0.76494	0.939;0.999;0.977;0.951	P;D;D;D	0.70016	0.889;0.967;0.933;0.933	D	0.98126	1.0428	10	0.87932	D	0	-4.3612	11.3481	0.49573	0.0:0.9114:0.0:0.0886	.	283;283;283;283	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	283;283;283;283;283;272;151	ENSP00000352610:R283P;ENSP00000269305:R283P;ENSP00000398846:R283P;ENSP00000391127:R283P;ENSP00000391478:R283P;ENSP00000425104:R151P	ENSP00000269305:R283P	R	-	2	0	TP53	7517815	0.998000	0.40836	0.015000	0.15790	0.873000	0.50193	3.584000	0.53936	1.318000	0.45170	0.462000	0.41574	CGC		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	26	0	0	0	1	0	13	26				
ARFGEF1	10565	broad.mit.edu	37	8	68152517	68152517	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:68152517C>A	ENST00000262215.3	-	20	3248	c.2859G>T	c.(2857-2859)tgG>tgT	p.W953C	ARFGEF1_ENST00000518230.1_5'Flank|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.W407C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	953					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAAAAGGCGTCCAAGCCAACT	0.323																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2857-2859)tgG>tgT		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							68.0	63.0	65.0					8																	68152517		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68152517C>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2859G>T	8.37:g.68152517C>A	ENSP00000262215:p.Trp953Cys					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.W407C	p.W953C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		20	3248	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	953					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.2859G>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449359	0.84101	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.37235	2.16;1.21	5.84	5.84	0.93424	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81250	-0.1018	10	0.87932	D	0	.	20.1466	0.98079	0.0:1.0:0.0:0.0	.	953;407	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	C	407;953	ENSP00000428429:W407C;ENSP00000262215:W953C	ENSP00000262215:W953C	W	-	3	0	ARFGEF1	68315071	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.779000	0.95612	0.591000	0.81541	TGG		0.323	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		7	36	1	0	0.000274275	1	0.000309455	7	36				
BAZ2A	11176	broad.mit.edu	37	12	56995031	56995031	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:56995031G>T	ENST00000551812.1	-	21	4426	c.4233C>A	c.(4231-4233)ccC>ccA	p.P1411P	BAZ2A_ENST00000179765.5_Silent_p.P1379P|BAZ2A_ENST00000549884.1_Silent_p.P1409P|BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000379441.3_Silent_p.P1381P	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1411	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGAACTTACTGGGAGGTCTCC	0.597																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(4135-4137)ccC>ccA		bromodomain adjacent to zinc finger domain, 2A							99.0	97.0	98.0					12																	56995031		2006	4178	6184	SO:0001819	synonymous_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56995031G>T	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.4233C>A	12.37:g.56995031G>T						BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000549884.1_Silent_p.P1409P|BAZ2A_ENST00000379441.3_Silent_p.P1381P|BAZ2A_ENST00000551812.1_Silent_p.P1411P	p.P1379P			Q9UIF9	BAZ2A_HUMAN			22	4336	-			1411			Pro-rich.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Silent	SNP	ENST00000551812.1	37	c.4137C>A	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	9.490	1.100411	0.20552	.	.	ENSG00000076108	ENST00000547453	.	.	.	5.34	1.36	0.22044	.	.	.	.	.	T	0.57710	0.2072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51309	-0.8722	4	.	.	.	-12.9219	9.2919	0.37791	0.401:0.0:0.599:0.0	.	.	.	.	K	80	.	.	Q	-	1	0	BAZ2A	55281298	0.647000	0.27304	1.000000	0.80357	0.967000	0.64934	-0.358000	0.07641	0.325000	0.23359	-0.140000	0.14226	CAA		0.597	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		10	33	1	0	0.000673444	1	0.000749147	10	33				
SLC15A4	121260	broad.mit.edu	37	12	129294521	129294521	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:129294521C>A	ENST00000266771.5	-	3	1017	c.978G>T	c.(976-978)ttG>ttT	p.L326F	SLC15A4_ENST00000539703.1_Intron|SLC15A4_ENST00000544112.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	326					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GTATCAAAGCCAAGAAAACAG	0.393																																						ENST00000266771.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22						c.(976-978)ttG>ttT		solute carrier family 15 (oligopeptide transporter), member 4							150.0	134.0	139.0					12																	129294521		2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129294521C>A	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.978G>T	12.37:g.129294521C>A	ENSP00000266771:p.Leu326Phe					SLC15A4_ENST00000544112.1_5'UTR|SLC15A4_ENST00000539703.1_Intron	p.L326F	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	3	1017	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		326					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.978G>T	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237150	0.39498	.	.	ENSG00000139370	ENST00000266771;ENST00000376740	T;T	0.61859	0.07;3.48	5.33	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);	0.132659	0.52532	D	0.000064	T	0.55210	0.1906	M	0.62266	1.93	0.80722	D	1	B	0.20459	0.045	B	0.26614	0.071	T	0.52426	-0.8577	10	0.30854	T	0.27	.	13.7386	0.62833	0.0:0.9254:0.0:0.0746	.	326	Q8N697	S15A4_HUMAN	F	326;26	ENSP00000266771:L326F;ENSP00000365930:L26F	ENSP00000266771:L326F	L	-	3	2	SLC15A4	127860474	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.587000	0.46128	2.630000	0.89119	0.655000	0.94253	TTG		0.393	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		6	27	1	0	0.0215528	1	0.0224017	6	27				
OR4N4	283694	broad.mit.edu	37	15	22382568	22382568	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:22382568A>C	ENST00000328795.4	+	1	187	c.96A>C	c.(94-96)ttA>ttC	p.L32F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGCTGATCTTAATTTTCTACC	0.408																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(94-96)ttA>ttC		olfactory receptor, family 4, subfamily N, member 4							166.0	166.0	166.0					15																	22382568		2190	4262	6452	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382568A>C	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.96A>C	15.37:g.22382568A>C	ENSP00000332500:p.Leu32Phe					RP11-69H14.6_ENST00000558896.1_RNA	p.L32F	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	187	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	32					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.96A>C	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	0.489	-0.876112	0.02550	.	.	ENSG00000183706	ENST00000328795	T	0.01804	4.63	3.24	0.448	0.16614	.	0.733784	0.11122	N	0.597347	T	0.02533	0.0077	L	0.60067	1.865	0.09310	N	1	B	0.17852	0.024	B	0.21151	0.033	T	0.38802	-0.9644	10	0.35671	T	0.21	-4.025	8.1166	0.30946	0.6157:0.3843:0.0:0.0	.	32	Q8N0Y3	OR4N4_HUMAN	F	32	ENSP00000332500:L32F	ENSP00000332500:L32F	L	+	3	2	OR4N4	19883932	0.000000	0.05858	0.351000	0.25721	0.008000	0.06430	-2.121000	0.01322	0.400000	0.25396	0.164000	0.16699	TTA		0.408	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			34	117	0	0	0	1	0	34	117				
KIF14	9928	broad.mit.edu	37	1	200539118	200539118	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:200539118C>T	ENST00000367350.4	-	23	4020	c.3582G>A	c.(3580-3582)atG>atA	p.M1194I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1194	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTCTGTTCTTCATCAAACTCC	0.289																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(3580-3582)atG>atA		kinesin family member 14							115.0	118.0	117.0					1																	200539118		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200539118C>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3582G>A	1.37:g.200539118C>T	ENSP00000356319:p.Met1194Ile						p.M1194I	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			23	4020	-			1194			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3582G>A	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266256	0.59540	.	.	ENSG00000118193	ENST00000367350	T	0.16457	2.34	5.68	5.68	0.88126	.	0.053961	0.85682	D	0.000000	T	0.21145	0.0509	M	0.62723	1.935	0.38235	D	0.941157	P	0.39831	0.69	B	0.33454	0.164	T	0.05716	-1.0868	10	0.40728	T	0.16	.	19.763	0.96332	0.0:1.0:0.0:0.0	.	1194	Q15058	KIF14_HUMAN	I	1194	ENSP00000356319:M1194I	ENSP00000356319:M1194I	M	-	3	0	KIF14	198805741	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.563000	0.60823	2.675000	0.91044	0.591000	0.81541	ATG		0.289	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		4	15	0	0	0	1	0	4	15				
IPO11	51194	broad.mit.edu	37	5	61846284	61846284	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:61846284G>C	ENST00000325324.6	+	25	2510	c.2341G>C	c.(2341-2343)Ggg>Cgg	p.G781R	IPO11_ENST00000409296.3_Missense_Mutation_p.G821R	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	781					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TATTATAGAAGGGGAGGTAAG	0.348																																						ENST00000325324.6																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30						c.(2341-2343)Ggg>Cgg		importin 11							87.0	84.0	85.0					5																	61846284		2203	4300	6503	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61846284G>C	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.2341G>C	5.37:g.61846284G>C	ENSP00000316651:p.Gly781Arg					IPO11_ENST00000409296.3_Missense_Mutation_p.G821R	p.G781R	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	25	2510	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	781					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.2341G>C	CCDS34167.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.555097|4.555097	0.86231|0.86231	.|.	.|.	ENSG00000086200|ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553|ENST00000511713	T;T|.	0.66995|.	-0.24;-0.24|.	5.47|5.47	5.47|5.47	0.80525|0.80525	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69251|0.69251	0.3090|0.3090	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;P;P|.	0.48764|.	0.915;0.749;0.754|.	B;B;B|.	0.41666|.	0.363;0.318;0.169|.	T|T	0.65195|0.65195	-0.6227|-0.6227	10|5	0.19590|.	T|.	0.45|.	.|.	18.9113|18.9113	0.92487|0.92487	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	821;351;781|.	Q9UI26-2;B3KN03;Q9UI26|.	.;.;IPO11_HUMAN|.	R|N	781;821;351|45	ENSP00000316651:G781R;ENSP00000386992:G821R|.	ENSP00000316651:G781R|.	G|K	+|+	1|3	0|2	IPO11|IPO11	61882041|61882041	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.807000|8.807000	0.91935|0.91935	2.585000|2.585000	0.87301|0.87301	0.650000|0.650000	0.86243|0.86243	GGG|AAG		0.348	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		7	13	0	0	0	1	0	7	13				
TMEM150B	284417	broad.mit.edu	37	19	55831443	55831443	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:55831443C>A	ENST00000326652.4	-	6	470	c.288G>T	c.(286-288)ctG>ctT	p.L96L	TMEM150B_ENST00000438693.1_Silent_p.L96L	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	96						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						CCAGGGCACACAGAAGACCCG	0.627																																						ENST00000326652.4																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(286-288)ctG>ctT		transmembrane protein 150B							78.0	78.0	78.0					19																	55831443		1977	4148	6125	SO:0001819	synonymous_variant	284417					integral to membrane		g.chr19:55831443C>A	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.288G>T	19.37:g.55831443C>A						TMEM150B_ENST00000438693.1_Silent_p.L96L	p.L96L			A6NC51	T150B_HUMAN			6	470	-			96					B7ZW71	Silent	SNP	ENST00000326652.4	37	c.288G>T	CCDS42629.1																																																																																				0.627	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		29	50	1	0	3.65163e-15	1	5.57725e-15	29	50				
TFDP3	51270	broad.mit.edu	37	X	132351159	132351159	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:132351159C>A	ENST00000310125.4	-	1	1217	c.1129G>T	c.(1129-1131)Ggc>Tgc	p.G377C		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	377					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					ACCCTGGAGCCACTGTACTGA	0.577																																						ENST00000310125.4																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19						c.(1129-1131)Ggc>Tgc		transcription factor Dp family, member 3							95.0	95.0	95.0					X																	132351159		2203	4300	6503	SO:0001583	missense	51270					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:132351159C>A	AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.1129G>T	X.37:g.132351159C>A	ENSP00000385461:p.Gly377Cys						p.G377C	NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN			1	1217	-	Acute lymphoblastic leukemia(192;0.000127)		377					Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	c.1129G>T	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925446	0.34002	.	.	ENSG00000183434	ENST00000310125	T	0.24908	1.83	0.602	0.602	0.17535	.	.	.	.	.	T	0.36386	0.0965	L	0.55990	1.75	0.48341	D	0.999637	D	0.89917	1.0	D	0.77557	0.99	T	0.28554	-1.0040	9	0.56958	D	0.05	.	2.895	0.05688	0.0:0.624:0.0:0.376	.	377	Q5H9I0	TFDP3_HUMAN	C	377	ENSP00000385461:G377C	ENSP00000385461:G377C	G	-	1	0	TFDP3	132178825	1.000000	0.71417	0.029000	0.17559	0.005000	0.04900	3.216000	0.51176	0.543000	0.28864	0.292000	0.19580	GGC		0.577	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1	NM_016521		31	25	1	0	1.74807e-11	1	2.51616e-11	31	25				
LOC101243545	101243545	broad.mit.edu	37	3	161146942	161146942	+	lincRNA	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:161146942A>T	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						TGTTGGCAACATCCAAAGCAT	0.388																																						ENST00000473595.1																			0																				76.0	86.0	83.0					3																	161146942		1458	2598	4056			101243545							g.chr3:161146942A>T																													3.37:g.161146942A>T						RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1						0	1231	+									RNA	SNP	ENST00000473595.1	37																																																																																						0.388	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			39	31	0	0	0	1	0	39	31				
SLC39A12	221074	broad.mit.edu	37	10	18276413	18276413	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:18276413G>T	ENST00000377369.2	+	7	1375	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C	SLC39A12_ENST00000377374.4_Missense_Mutation_p.G368C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G368C|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G234C	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	368					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CTTAGAATACGGCTACAGCAC	0.522																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1102-1104)Ggc>Tgc		solute carrier family 39 (zinc transporter), member 12							98.0	72.0	81.0					10																	18276413		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18276413G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1102G>T	10.37:g.18276413G>T	ENSP00000366586:p.Gly368Cys					SLC39A12_ENST00000539911.1_Missense_Mutation_p.G234C|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G368C|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G368C	p.G368C	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			7	1375	+			368					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1102G>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848463	0.91277	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.68903	-0.22;-0.36;-0.22;-0.28	5.84	5.84	0.93424	.	0.146097	0.64402	D	0.000008	D	0.83968	0.5369	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82752	-0.0302	10	0.41790	T	0.15	-18.4518	20.1379	0.98040	0.0:0.0:1.0:0.0	.	368;368;368	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	C	368;368;368;234;288	ENSP00000366586:G368C;ENSP00000366591:G368C;ENSP00000366588:G368C;ENSP00000440445:G234C	ENSP00000366586:G368C	G	+	1	0	SLC39A12	18316419	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.127000	0.94417	2.779000	0.95612	0.655000	0.94253	GGC		0.522	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		14	30	1	0	1.05317e-09	1	1.45002e-09	14	30				
ZCCHC13	389874	broad.mit.edu	37	X	73524174	73524174	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:73524174G>C	ENST00000339534.2	+	1	150	c.73G>C	c.(73-75)Gga>Cga	p.G25R		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	25							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGGAGGAGCTGGAGGGCGAAG	0.557																																						ENST00000339534.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						c.(73-75)Gga>Cga		zinc finger, CCHC domain containing 13							71.0	49.0	56.0					X																	73524174		2203	4300	6503	SO:0001583	missense	389874						nucleic acid binding|zinc ion binding	g.chrX:73524174G>C	BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.73G>C	X.37:g.73524174G>C	ENSP00000345633:p.Gly25Arg						p.G25R	NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN			1	150	+			25						Missense_Mutation	SNP	ENST00000339534.2	37	c.73G>C	CCDS14425.1	.	.	.	.	.	.	.	.	.	.	G	6.661	0.490411	0.12702	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.25	2.48	0.30137	.	0.075706	0.53938	N	0.000044	T	0.12732	0.0309	N	0.01742	-0.745	0.09310	N	0.999999	B	0.11235	0.004	B	0.15484	0.013	T	0.21381	-1.0247	9	0.28530	T	0.3	.	6.9768	0.24679	0.0:0.7133:0.1812:0.1055	.	25	Q8WW36	ZCH13_HUMAN	R	25	.	ENSP00000345633:G25R	G	+	1	0	ZCCHC13	73440899	0.987000	0.35691	0.000000	0.03702	0.017000	0.09413	2.686000	0.46968	0.559000	0.29153	-0.347000	0.07816	GGA		0.557	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1	NM_203303		4	4	0	0	0	1	0	4	4				
DPPA4	55211	broad.mit.edu	37	3	109049600	109049600	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:109049600C>T	ENST00000335658.6	-	5	504	c.450G>A	c.(448-450)aaG>aaA	p.K150K	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	150					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCTTTTCCACCTTTAATTTTT	0.428																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(448-450)aaG>aaA		developmental pluripotency associated 4							71.0	75.0	74.0					3																	109049600		2203	4300	6503	SO:0001819	synonymous_variant	55211					nucleus	protein binding	g.chr3:109049600C>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.450G>A	3.37:g.109049600C>T						DPPA4_ENST00000478791.1_5'UTR	p.K150K	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			5	504	-			150					A8K4M7|Q9H9N5|Q9NVI6	Silent	SNP	ENST00000335658.6	37	c.450G>A	CCDS33814.1																																																																																				0.428	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		8	40	0	0	0	1	0	8	40				
BAGE2	85319	broad.mit.edu	37	21	11098892	11098892	+	RNA	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:11098892G>T	ENST00000470054.1	-	0	33							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ctctaagccgggaacagagca	0.597																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098892G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098892G>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	33	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.597	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	17	1	0	0.00024832	1	0.000282859	4	17				
C6orf58	352999	broad.mit.edu	37	6	127911383	127911383	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:127911383G>T	ENST00000329722.7	+	5	838	c.826G>T	c.(826-828)Gta>Tta	p.V276L		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	276						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TAATACTGATGTAGCCCCTTT	0.393																																						ENST00000329722.7																			0				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15						c.(826-828)Gta>Tta		chromosome 6 open reading frame 58							177.0	175.0	176.0					6																	127911383		2203	4300	6503	SO:0001583	missense	352999					extracellular region		g.chr6:127911383G>T	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.826G>T	6.37:g.127911383G>T	ENSP00000328069:p.Val276Leu						p.V276L	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	5	838	+			276					B4E1I0|Q5VUP2	Missense_Mutation	SNP	ENST00000329722.7	37	c.826G>T	CCDS34533.1	.	.	.	.	.	.	.	.	.	.	G	9.624	1.134670	0.21123	.	.	ENSG00000184530	ENST00000329722	T	0.42900	0.96	5.19	-5.73	0.02398	.	1.945150	0.01983	N	0.044990	T	0.10723	0.0262	L	0.29908	0.895	0.09310	N	1	B	0.29766	0.256	B	0.25291	0.059	T	0.10590	-1.0623	10	0.31617	T	0.26	0.0041	7.7973	0.29154	0.3301:0.0:0.5416:0.1283	.	276	Q6P5S2	CF058_HUMAN	L	276	ENSP00000328069:V276L	ENSP00000328069:V276L	V	+	1	0	C6orf58	127953076	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.276000	0.02815	-0.743000	0.04784	-0.136000	0.14681	GTA		0.393	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		24	55	1	0	2.24059e-21	1	3.62001e-21	24	55				
PCDHGB1	56104	broad.mit.edu	37	5	140730750	140730750	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140730750C>A	ENST00000523390.1	+	1	923	c.923C>A	c.(922-924)aCa>aAa	p.T308K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGAAGAGACAAGTAGATAT	0.423																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(922-924)aCa>aAa									116.0	116.0	116.0					5																	140730750		1948	4155	6103	SO:0001583	missense	56104							g.chr5:140730750C>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.923C>A	5.37:g.140730750C>A	ENSP00000429273:p.Thr308Lys					PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T308K	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	923	+								Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.923C>A	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	0.057	-1.232751	0.01505	.	.	ENSG00000254221	ENST00000523390	T	0.01106	5.33	5.43	3.63	0.41609	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01061	0.0035	N	0.20986	0.625	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.15484	0.013;0.008	T	0.48725	-0.9010	9	0.30078	T	0.28	.	7.6876	0.28548	0.3438:0.3462:0.31:0.0	.	308;308	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	K	308	ENSP00000429273:T308K	ENSP00000429273:T308K	T	+	2	0	PCDHGB1	140710934	0.000000	0.05858	0.249000	0.24280	0.048000	0.14542	-1.396000	0.02513	0.750000	0.32877	0.563000	0.77884	ACA		0.423	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		16	41	1	0	2.32078e-09	1	3.16774e-09	16	41				
GRIP1	23426	broad.mit.edu	37	12	66773099	66773099	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:66773099C>A	ENST00000398016.3	-	19	2494	c.2426G>T	c.(2425-2427)gGg>gTg	p.G809V	GRIP1_ENST00000286445.7_Missense_Mutation_p.G861V|GRIP1_ENST00000359742.4_Missense_Mutation_p.G861V	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATAACTCAGCCCCACATCTGG	0.507																																						ENST00000359742.4																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2581-2583)gGg>gTg		glutamate receptor interacting protein 1							189.0	184.0	185.0					12																	66773099		1932	4131	6063	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66773099C>A	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2426G>T	12.37:g.66773099C>A	ENSP00000381098:p.Gly809Val					GRIP1_ENST00000286445.7_Missense_Mutation_p.G861V|GRIP1_ENST00000398016.3_Missense_Mutation_p.G809V	p.G861V			Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	20	2822	-			861					B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2582G>T	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.34|13.34	2.208595|2.208595	0.39003|0.39003	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T|T;T;T;T;T;T	0.79141|0.78707	-1.24|-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	4.8|4.8	3.9|3.9	0.45041|0.45041	.|.	0.046786|0.046786	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.66790|0.66790	0.2825|0.2825	L|L	0.41236|0.41236	1.265|1.265	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.17667	.|0.001;0.001;0.005;0.023	.|B;B;B;B	.|0.20184	.|0.003;0.004;0.018;0.028	T|T	0.60214|0.60214	-0.7307|-0.7307	7|9	.|.	.|.	.|.	-17.5941|-17.5941	10.4211|10.4211	0.44350|0.44350	0.1366:0.7878:0.0:0.0756|0.1366:0.7878:0.0:0.0756	.|.	.|809;861;809;861	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	C|V	676|809;861;861;809;753;701	ENSP00000439053:G676C|ENSP00000381098:G809V;ENSP00000352780:G861V;ENSP00000286445:G861V;ENSP00000446047:G809V;ENSP00000446024:G753V;ENSP00000446011:G701V	.|.	G|G	-|-	1|2	0|0	GRIP1|GRIP1	65059366|65059366	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.320000|4.320000	0.59203|0.59203	2.639000|2.639000	0.89480|0.89480	0.561000|0.561000	0.74099|0.74099	GGC|GGG		0.507	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			46	81	1	0	3.54909e-21	1	5.71464e-21	46	81				
SLC12A2	6558	broad.mit.edu	37	5	127488461	127488461	+	Missense_Mutation	SNP	G	G	T	rs373411636		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:127488461G>T	ENST00000262461.2	+	15	2516	c.2327G>T	c.(2326-2328)cGt>cTt	p.R776L	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R776L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	776					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	CATTCAATTCGTCTTTCTGGA	0.413																																						ENST00000262461.2																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2326-2328)cGt>cTt		solute carrier family 12 (sodium/potassium/chloride transporter), member 2	Bumetanide(DB00887)|Potassium Chloride(DB00761)						121.0	114.0	117.0					5																	127488461		2203	4300	6503	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127488461G>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2327G>T	5.37:g.127488461G>T	ENSP00000262461:p.Arg776Leu					SLC12A2_ENST00000343225.4_Missense_Mutation_p.R776L	p.R776L	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	15	2516	+		all_cancers(142;0.0972)|Prostate(80;0.151)	776					Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.2327G>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966881	0.53507	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.98362	-4.89;-4.89	5.27	5.27	0.74061	Amino acid permease domain (1);	0.215343	0.46758	D	0.000270	D	0.97558	0.9200	L	0.42632	1.34	0.80722	D	1	P;P	0.49696	0.91;0.927	P;P	0.51516	0.543;0.672	D	0.97151	0.9831	10	0.38643	T	0.18	.	19.0718	0.93140	0.0:0.0:1.0:0.0	.	776;776	P55011-3;P55011	.;S12A2_HUMAN	L	776	ENSP00000262461:R776L;ENSP00000340878:R776L	ENSP00000262461:R776L	R	+	2	0	SLC12A2	127516360	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.777000	0.55364	2.746000	0.94184	0.460000	0.39030	CGT		0.413	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		13	17	1	0	7.03913e-09	1	9.47191e-09	13	17				
SPATA31C1	441452	broad.mit.edu	37	9	90534066	90534066	+	RNA	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:90534066T>A	ENST00000602681.1	+	0	812							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGAGCTCCCTGAGCAAGACA	0.557																																						ENST00000602681.1																			0																																																			441452							g.chr9:90534066T>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90534066T>A														0	812	+									RNA	SNP	ENST00000602681.1	37																																																																																						0.557	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		5	10	0	0	0	1	0	5	10				
SPEG	10290	broad.mit.edu	37	2	220333617	220333617	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:220333617G>T	ENST00000312358.7	+	12	3470	c.3338G>T	c.(3337-3339)cGg>cTg	p.R1113L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1113	Ig-like 5.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TTGCGGCTGCGGCAGGACGGG	0.647																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(3337-3339)cGg>cTg		SPEG complex locus							24.0	30.0	28.0					2																	220333617		2078	4214	6292	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220333617G>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3338G>T	2.37:g.220333617G>T	ENSP00000311684:p.Arg1113Leu					SPEG_ENST00000485813.1_3'UTR	p.R1113L	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	12	3470	+		Renal(207;0.0183)	1113			Ig-like 5.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.3338G>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	6.589	0.476951	0.12521	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.67345	-0.26	4.49	0.387	0.16259	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.990727	0.08181	N	0.985441	T	0.30727	0.0774	N	0.01188	-0.97	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.21552	-1.0242	10	0.09084	T	0.74	.	4.8202	0.13387	0.5357:0.0:0.3092:0.1551	.	1113	Q15772	SPEG_HUMAN	L	1113	ENSP00000311684:R1113L	ENSP00000265327:R1113L	R	+	2	0	SPEG	220041861	0.072000	0.21174	0.016000	0.15963	0.633000	0.38033	0.454000	0.21827	-0.112000	0.11979	-0.345000	0.07892	CGG		0.647	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		10	26	1	0	0.0581538	1	0.0597901	10	26				
TBCK	93627	broad.mit.edu	37	4	107157660	107157660	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:107157660G>A	ENST00000273980.5	-	15	1684	c.1237C>T	c.(1237-1239)Cat>Tat	p.H413Y	TBCK_ENST00000432496.2_Missense_Mutation_p.H413Y|TBCK_ENST00000394706.3_Missense_Mutation_p.H374Y|TBCK_ENST00000361687.4_Missense_Mutation_p.H350Y|TBCK_ENST00000394708.2_Missense_Mutation_p.H413Y					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTGTTTGAATGAGGTAAATTA	0.338																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1237-1239)Cat>Tat		TBC1 domain containing kinase							52.0	52.0	52.0					4																	107157660		2203	4299	6502	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107157660G>A		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1237C>T	4.37:g.107157660G>A	ENSP00000273980:p.His413Tyr					TBCK_ENST00000394708.2_Missense_Mutation_p.H413Y|TBCK_ENST00000361687.4_Missense_Mutation_p.H350Y|TBCK_ENST00000394706.3_Missense_Mutation_p.H374Y|TBCK_ENST00000432496.2_Missense_Mutation_p.H413Y	p.H413Y			Q8TEA7	TBCK_HUMAN			15	1684	-			413						Missense_Mutation	SNP	ENST00000273980.5	37	c.1237C>T	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510171	0.27036	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93	5.87	5.87	0.94306	.	0.044683	0.85682	D	0.000000	T	0.08133	0.0203	N	0.22421	0.69	0.52501	D	0.999952	B;P;P	0.45428	0.328;0.858;0.78	B;B;B	0.34931	0.087;0.192;0.135	T	0.39761	-0.9598	10	0.17832	T	0.49	.	20.2169	0.98300	0.0:0.0:1.0:0.0	.	413;374;350	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	Y	413;413;350;374;413	ENSP00000273980:H413Y;ENSP00000405847:H413Y;ENSP00000355338:H350Y;ENSP00000378196:H374Y;ENSP00000378198:H413Y	ENSP00000273980:H413Y	H	-	1	0	TBCK	107377109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.614000	0.98353	2.774000	0.95407	0.643000	0.83706	CAT		0.338	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		5	4	0	0	0	1	0	5	4				
SPATA31D5P	347127	broad.mit.edu	37	9	84530616	84530616	+	RNA	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:84530616G>A	ENST00000527857.1	+	0	638					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CCCCTGACCTGATCACCACCT	0.532																																						ENST00000527857.1																			0																																																			347127							g.chr9:84530616G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84530616G>A								NR_026851.1						0	638	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.532	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		25	64	0	0	0	1	0	25	64				
DOCK2	1794	broad.mit.edu	37	5	169135205	169135205	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:169135205C>A	ENST00000256935.8	+	15	1496	c.1416C>A	c.(1414-1416)ccC>ccA	p.P472P	DOCK2_ENST00000540750.1_De_novo_Start_OutOfFrame|DOCK2_ENST00000520908.1_De_novo_Start_OutOfFrame	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	472	DHR-1.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGACAAGCCCATGAATGAGT	0.423																																						ENST00000520908.1																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160								dedicator of cytokinesis 2							112.0	104.0	106.0					5																	169135205		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169135205C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1416C>A	5.37:g.169135205C>A						DOCK2_ENST00000256935.8_Silent_p.P472P|DOCK2_ENST00000540750.1_De_novo_Start_OutOfFrame				Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		0	160	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)						Q2M3I0|Q96AK7	Translation_Start_Site	SNP	ENST00000256935.8	37		CCDS4371.1																																																																																				0.423	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		6	10	1	0	0.00198382	1	0.00217123	6	10				
ANO5	203859	broad.mit.edu	37	11	22277028	22277028	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:22277028A>G	ENST00000324559.8	+	13	1609	c.1292A>G	c.(1291-1293)gAa>gGa	p.E431G		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	431					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCAGAATTTGAAGCTATGTGT	0.433																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1291-1293)gAa>gGa		anoctamin 5							168.0	167.0	167.0					11																	22277028		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22277028A>G	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1292A>G	11.37:g.22277028A>G	ENSP00000315371:p.Glu431Gly						p.E431G	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			13	1609	+			431						Missense_Mutation	SNP	ENST00000324559.8	37	c.1292A>G	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.258420	0.80246	.	.	ENSG00000171714	ENST00000324559	T	0.64991	-0.13	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.80059	0.4554	M	0.84683	2.71	0.58432	D	0.999996	D	0.76494	0.999	D	0.71656	0.974	T	0.81988	-0.0680	10	0.44086	T	0.13	.	14.8993	0.70666	1.0:0.0:0.0:0.0	.	431	Q75V66	ANO5_HUMAN	G	431	ENSP00000315371:E431G	ENSP00000315371:E431G	E	+	2	0	ANO5	22233604	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.086000	0.76885	1.921000	0.55644	0.460000	0.39030	GAA		0.433	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		18	42	0	0	0	1	0	18	42				
FLRT2	23768	broad.mit.edu	37	14	86089034	86089034	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:86089034C>T	ENST00000330753.4	+	2	1943	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	FLRT2_ENST00000554746.1_Silent_p.S392S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	392					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAAACCCTAGCAGAAGCTACA	0.577																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1174-1176)agC>agT		fibronectin leucine rich transmembrane protein 2							78.0	80.0	80.0					14																	86089034		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089034C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1176C>T	14.37:g.86089034C>T						FLRT2_ENST00000554746.1_Silent_p.S392S	p.S392S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1943	+			392					A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.1176C>T	CCDS9877.1																																																																																				0.577	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			27	54	0	0	0	1	0	27	54				
XIRP2	129446	broad.mit.edu	37	2	168106475	168106475	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:168106475T>A	ENST00000409195.1	+	9	8662	c.8573T>A	c.(8572-8574)aTc>aAc	p.I2858N	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I2636N|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.I2858N|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2683					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAAGGTTATCGATGCACAT	0.368																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8572-8574)aTc>aAc		xin actin-binding repeat containing 2							119.0	115.0	116.0					2																	168106475		1887	4114	6001	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106475T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8573T>A	2.37:g.168106475T>A	ENSP00000386840:p.Ile2858Asn					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.I2636N|XIRP2_ENST00000295237.9_Missense_Mutation_p.I2858N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	p.I2858N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	8662	+			2683					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8573T>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	9.840	1.190756	0.21954	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02916	4.11;4.11;4.12	6.02	-0.925	0.10458	.	1.265560	0.04779	N	0.429553	T	0.03739	0.0106	L	0.47716	1.5	0.09310	N	1	P;P;P	0.45474	0.779;0.859;0.859	B;B;B	0.40009	0.168;0.316;0.316	T	0.49031	-0.8981	10	0.30078	T	0.28	-0.0578	8.3033	0.32027	0.1306:0.572:0.0:0.2974	.	2683;2683;2636	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	2858;2858;2636;272	ENSP00000386840:I2858N;ENSP00000295237:I2858N;ENSP00000387255:I2636N	ENSP00000295237:I2858N	I	+	2	0	XIRP2	167814721	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-0.583000	0.05807	0.031000	0.15407	0.533000	0.62120	ATC		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		17	34	0	0	0	1	0	17	34				
GALNTL5	168391	broad.mit.edu	37	7	151664376	151664376	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:151664376A>G	ENST00000392800.2	+	2	299	c.45A>G	c.(43-45)acA>acG	p.T15T	GALNTL5_ENST00000431418.2_Silent_p.T15T	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	15					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GGTCCTTGACATTTGGGATCT	0.393																																						ENST00000392800.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(43-45)acA>acG		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							61.0	60.0	60.0					7																	151664376		2203	4300	6503	SO:0001819	synonymous_variant	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151664376A>G	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.45A>G	7.37:g.151664376A>G						GALNTL5_ENST00000431418.2_Silent_p.T15T	p.T15T	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	2	299	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	15					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Silent	SNP	ENST00000392800.2	37	c.45A>G	CCDS5929.1																																																																																				0.393	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		5	14	0	0	0	1	0	5	14				
ADCY5	111	broad.mit.edu	37	3	123166426	123166426	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:123166426G>A	ENST00000462833.1	-	1	2179	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	323					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAGGCGCTGCGTGGCTGCGGC	0.687																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(967-969)Cgc>Tgc		adenylate cyclase 5							23.0	24.0	23.0					3																	123166426		2200	4295	6495	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123166426G>A	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.967C>T	3.37:g.123166426G>A	ENSP00000419361:p.Arg323Cys						p.R323C	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	1	2179	-			323					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.967C>T	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506033	0.64410	.	.	ENSG00000173175	ENST00000462833	T	0.23552	1.9	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000003	T	0.46092	0.1375	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	P	0.59357	0.856	T	0.45249	-0.9274	10	0.62326	D	0.03	.	14.5651	0.68171	0.0:0.0:0.8444:0.1556	.	323	O95622	ADCY5_HUMAN	C	323	ENSP00000419361:R323C	ENSP00000419361:R323C	R	-	1	0	ADCY5	124649116	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	4.932000	0.63476	2.443000	0.82685	0.561000	0.74099	CGC		0.687	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		9	35	0	0	0	1	0	9	35				
KIAA1456	57604	broad.mit.edu	37	8	12870338	12870338	+	Missense_Mutation	SNP	G	G	T	rs369298289	byFrequency	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:12870338G>T	ENST00000524591.2	+	4	789	c.300G>T	c.(298-300)gaG>gaT	p.E100D	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	100							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TTAGGGATGAGGGCTTCGATG	0.507																																						ENST00000524591.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(298-300)gaG>gaT		KIAA1456							92.0	93.0	93.0					8																	12870338		2002	4168	6170	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12870338G>T	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.300G>T	8.37:g.12870338G>T	ENSP00000432695:p.Glu100Asp					KIAA1456_ENST00000447063.2_Intron	p.E100D	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN			4	789	+			100					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.300G>T	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656211	0.29425	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.44482	0.92	5.73	4.84	0.62591	Methyltransferase type 11 (1);	0.278207	0.43260	D	0.000589	T	0.29389	0.0732	N	0.20610	0.595	0.80722	D	1	B	0.13145	0.007	B	0.14578	0.011	T	0.04178	-1.0971	10	0.24483	T	0.36	-12.5525	15.7964	0.78412	0.0686:0.0:0.9314:0.0	.	100	Q9P272	K1456_HUMAN	D	100;13	ENSP00000432695:E100D	ENSP00000432695:E100D	E	+	3	2	AC135352.2	12914709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.447000	0.52936	2.882000	0.98803	0.655000	0.94253	GAG		0.507	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		8	11	1	0	0.00307968	1	0.00334748	8	11				
TSHZ3	57616	broad.mit.edu	37	19	31767880	31767880	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:31767880C>A	ENST00000240587.4	-	2	3146	c.2819G>T	c.(2818-2820)gGg>gTg	p.G940V		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	940					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G757V(1)|p.G940V(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CATGGACAGCCCGGTGAACCT	0.572																																						ENST00000240587.4																			2	Substitution - Missense(2)	p.G757V(1)|p.G940V(1)	lung(2)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2818-2820)gGg>gTg		teashirt zinc finger homeobox 3							50.0	49.0	50.0					19																	31767880		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767880C>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2819G>T	19.37:g.31767880C>A	ENSP00000240587:p.Gly940Val						p.G940V	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	3146	-	Esophageal squamous(110;0.226)		940					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2819G>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335435	0.60853	.	.	ENSG00000121297	ENST00000240587	D	0.94330	-3.4	5.58	4.55	0.56014	Homeobox (2);Homeodomain-like (1);	0.050748	0.85682	D	0.000000	D	0.94424	0.8206	L	0.58810	1.83	0.80722	D	1	D	0.58268	0.982	P	0.55785	0.784	D	0.94713	0.7894	10	0.87932	D	0	-28.5518	14.3984	0.67027	0.0:0.9291:0.0:0.0709	.	940	Q63HK5	TSH3_HUMAN	V	940	ENSP00000240587:G940V	ENSP00000240587:G940V	G	-	2	0	TSHZ3	36459720	1.000000	0.71417	0.288000	0.24862	0.895000	0.52256	7.461000	0.80834	1.353000	0.45828	0.591000	0.81541	GGG		0.572	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		11	17	1	0	9.70103e-10	1	1.34736e-09	11	17				
LRP1B	53353	broad.mit.edu	37	2	141777553	141777553	+	Silent	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:141777553C>G	ENST00000389484.3	-	12	2879	c.1908G>C	c.(1906-1908)cgG>cgC	p.R636R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	636					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAGAGTCTTCCGACTCTGAG	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1906-1908)cgG>cgC		low density lipoprotein receptor-related protein 1B							95.0	98.0	97.0					2																	141777553		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141777553C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1908G>C	2.37:g.141777553C>G		TSP Lung(27;0.18)					p.R636R	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	12	2879	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	636					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.1908G>C	CCDS2182.1																																																																																				0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		19	35	0	0	0	1	0	19	35				
IL21R	50615	broad.mit.edu	37	16	27445713	27445713	+	Missense_Mutation	SNP	C	C	A	rs374987749		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:27445713C>A	ENST00000337929.3	+	3	568	c.95C>A	c.(94-96)aCg>aAg	p.T32K	IL21R_ENST00000395754.4_Missense_Mutation_p.T32K|IL21R_ENST00000564089.1_Missense_Mutation_p.T32K|IL21R_ENST00000395755.1_Missense_Mutation_p.T32K	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	32	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TACCTCCAGACGGTCATCTGC	0.632			T	BCL6	NHL																																	ENST00000337929.3				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(94-96)aCg>aAg		interleukin 21 receptor							113.0	90.0	98.0					16																	27445713		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27445713C>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.95C>A	16.37:g.27445713C>A	ENSP00000338010:p.Thr32Lys					IL21R_ENST00000395754.4_Missense_Mutation_p.T32K|IL21R_ENST00000395755.1_Missense_Mutation_p.T32K|IL21R_ENST00000564089.1_Missense_Mutation_p.T32K	p.T32K	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN			3	568	+			32					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.95C>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	c	12.59	1.983664	0.35036	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.95205	-3.64;-3.64;-3.64	4.39	3.41	0.39046	Fibronectin, type III (1);	0.059521	0.64402	D	0.000003	D	0.94765	0.8310	L	0.60455	1.87	0.29688	N	0.841171	D	0.69078	0.997	D	0.64144	0.922	D	0.89592	0.3828	10	0.15066	T	0.55	-14.95	10.2841	0.43556	0.0:0.7992:0.2008:0.0	.	32	Q9HBE5	IL21R_HUMAN	K	32	ENSP00000338010:T32K;ENSP00000379104:T32K;ENSP00000379103:T32K	ENSP00000338010:T32K	T	+	2	0	IL21R	27353214	0.444000	0.25649	0.150000	0.22450	0.048000	0.14542	1.167000	0.31847	1.171000	0.42768	0.555000	0.69702	ACG		0.632	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		21	17	1	0	1.22574e-08	1	1.63088e-08	21	17				
TRAV22	28661	broad.mit.edu	37	14	22538980	22538980	+	RNA	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:22538980G>T	ENST00000390450.3	+	0	161									T cell receptor alpha variable 22																		AGCTCTGCTGGGGCTCTTGAG	0.512																																						ENST00000390450.3																			0																				73.0	79.0	77.0					14																	22538980		1926	4141	6067			28661							g.chr14:22538980G>T	AE000660		14q11.2	2012-02-07			ENSG00000211802	ENSG00000211802		"""T cell receptors / TRA locus"""	12119	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV13S1, TCRAV22S1			OTTHUMG00000170649		14.37:g.22538980G>T														0	161	+									RNA	SNP	ENST00000390450.3	37																																																																																						0.512	TRAV22-001	KNOWN	upstream_ATG|mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409897.1	NG_001332		3	7	1	0	0.004672	1	0.0050322	3	7				
FAM71B	153745	broad.mit.edu	37	5	156590334	156590334	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:156590334C>A	ENST00000302938.4	-	2	1037	c.942G>T	c.(940-942)gcG>gcT	p.A314A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	314	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGCTGCTCCCGCCAGCGCTG	0.527																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(940-942)gcG>gcT		family with sequence similarity 71, member B							111.0	111.0	111.0					5																	156590334		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590334C>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.942G>T	5.37:g.156590334C>A							p.A314A	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1037	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	314			Ala-rich.		Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.942G>T	CCDS4335.1																																																																																				0.527	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		22	71	1	0	1.10513e-12	1	1.64043e-12	22	71				
ZNF292	23036	broad.mit.edu	37	6	87964708	87964708	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:87964708G>T	ENST00000369577.3	+	8	1404	c.1361G>T	c.(1360-1362)cGa>cTa	p.R454L	ZNF292_ENST00000339907.4_Missense_Mutation_p.R449L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	454						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACCTTGAAACGACAATGTCTT	0.368																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(1360-1362)cGa>cTa		zinc finger protein 292							88.0	82.0	84.0					6																	87964708		1851	4090	5941	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87964708G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.1361G>T	6.37:g.87964708G>T	ENSP00000358590:p.Arg454Leu					ZNF292_ENST00000339907.4_Missense_Mutation_p.R449L	p.R454L	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	1404	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	454					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.1361G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051876	0.75960	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.37411	1.2;1.2	6.06	6.06	0.98353	.	0.054564	0.85682	D	0.000000	T	0.57154	0.2034	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.77557	0.99	T	0.57341	-0.7828	10	0.87932	D	0	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	454	O60281	ZN292_HUMAN	L	454;449	ENSP00000358590:R454L;ENSP00000342847:R449L	ENSP00000342847:R449L	R	+	2	0	ZNF292	88021427	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.972000	0.88022	2.880000	0.98712	0.650000	0.86243	CGA		0.368	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		7	11	1	0	0.00198382	1	0.00217123	7	11				
IRX5	10265	broad.mit.edu	37	16	54965318	54965318	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:54965318G>C	ENST00000394636.4	+	1	545	c.208G>C	c.(208-210)Gac>Cac	p.D70H	CRNDE_ENST00000560208.1_lincRNA|IRX5_ENST00000320990.5_Missense_Mutation_p.D70H|IRX5_ENST00000558597.1_5'Flank|IRX5_ENST00000560154.1_Missense_Mutation_p.D70H			P78411	IRX5_HUMAN	iroquois homeobox 5	70					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GTACGGcgccgaccccgcggc	0.756																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(208-210)Gac>Cac		iroquois homeobox 5							6.0	8.0	7.0					16																	54965318		2065	4100	6165	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54965318G>C	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.208G>C	16.37:g.54965318G>C	ENSP00000378132:p.Asp70His					IRX5_ENST00000320990.5_Missense_Mutation_p.D70H|IRX5_ENST00000560154.1_Missense_Mutation_p.D70H	p.D70H			P78411	IRX5_HUMAN			1	545	+			70	YGADPAAAAAAAFSSYV -> MAVETTVHTHLSASPPQ (in Ref. 2; AAB50002).				H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.208G>C	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239172	0.79800	.	.	ENSG00000176842	ENST00000394636;ENST00000320990;ENST00000447390	T;T	0.61040	0.14;0.14	4.94	4.94	0.65067	.	0.105176	0.41396	D	0.000885	T	0.74215	0.3687	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	0.992;1.0	P;D	0.72982	0.888;0.979	T	0.75792	-0.3193	10	0.52906	T	0.07	-13.4043	17.4969	0.87720	0.0:0.0:1.0:0.0	.	70;70	A2RRB5;P78411	.;IRX5_HUMAN	H	70	ENSP00000378132:D70H;ENSP00000316250:D70H	ENSP00000316250:D70H	D	+	1	0	IRX5	53522819	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.743000	0.91592	2.449000	0.82847	0.561000	0.74099	GAC		0.756	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			10	14	0	0	0	1	0	10	14				
TNRC18	84629	broad.mit.edu	37	7	5427940	5427940	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:5427940G>A	ENST00000430969.1	-	5	1863	c.1515C>T	c.(1513-1515)ggC>ggT	p.G505G	TNRC18_ENST00000399537.4_Silent_p.G505G	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	505	Pro-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TATGCTCAGGGCCGGTGGGCG	0.736																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(1513-1515)ggC>ggT		trinucleotide repeat containing 18							8.0	10.0	9.0					7																	5427940		1845	4043	5888	SO:0001819	synonymous_variant	84629						DNA binding	g.chr7:5427940G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.1515C>T	7.37:g.5427940G>A						TNRC18_ENST00000430969.1_Silent_p.G505G	p.G505G			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	5	1863	-		Ovarian(82;0.142)	505			Pro-rich.		A8MX41|Q96JH1|Q96K91	Silent	SNP	ENST00000430969.1	37	c.1515C>T	CCDS47534.1																																																																																				0.736	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				14	30	0	0	0	1	0	14	30				
TPTE	7179	broad.mit.edu	37	21	10906977	10906977	+	Silent	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:10906977T>A	ENST00000361285.4	-	24	1913	c.1584A>T	c.(1582-1584)ccA>ccT	p.P528P	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.P490P|TPTE_ENST00000298232.7_Silent_p.P510P	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	528	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAATCTGATGGATAAATTC	0.358																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1528-1530)ccA>ccT		transmembrane phosphatase with tensin homology							134.0	119.0	124.0					21																	10906977		2203	4300	6503	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906977T>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1584A>T	21.37:g.10906977T>A						TPTE_ENST00000361285.4_Silent_p.P528P|TPTE_ENST00000342420.5_Silent_p.P490P|TPTE_ENST00000415664.2_5'UTR	p.P510P	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	23	1897	-			528			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.1530A>T	CCDS13560.2																																																																																				0.358	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			4	25	0	0	0	1	0	4	25				
CD93	22918	broad.mit.edu	37	20	23065896	23065896	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:23065896G>T	ENST00000246006.4	-	1	1081	c.934C>A	c.(934-936)Cgt>Agt	p.R312S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	312	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCCCCCCACGACATGGGCTG	0.647																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(934-936)Cgt>Agt		CD93 molecule							45.0	50.0	48.0					20																	23065896		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065896G>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.934C>A	20.37:g.23065896G>T	ENSP00000246006:p.Arg312Ser						p.R312S	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1081	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		312			EGF-like 2.		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.934C>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	4.163	0.028648	0.08054	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	D	0.86562	-2.14	5.42	-5.84	0.02318	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.408720	0.04751	N	0.424586	T	0.74238	0.3690	N	0.25094	0.71	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.61997	-0.6947	10	0.09338	T	0.73	0.3292	9.7864	0.40679	0.0:0.1471:0.6052:0.2477	.	312	Q9NPY3	C1QR1_HUMAN	S	312	ENSP00000246006:R312S	ENSP00000246006:R312S	R	-	1	0	CD93	23013896	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.252000	0.08806	-0.830000	0.04262	-0.271000	0.10264	CGT		0.647	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		22	53	1	0	1.87028e-06	1	2.32561e-06	22	53				
DAPK1	1612	broad.mit.edu	37	9	90322049	90322049	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:90322049C>T	ENST00000408954.3	+	26	4398	c.4063C>T	c.(4063-4065)Ccc>Tcc	p.P1355S	DAPK1_ENST00000469640.2_Missense_Mutation_p.P1380S|DAPK1_ENST00000358077.5_Missense_Mutation_p.P1355S|DAPK1_ENST00000472284.1_Missense_Mutation_p.P1355S|DAPK1_ENST00000491893.1_Missense_Mutation_p.P1289S	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1355	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGATTTCCTCCCCAGCCCCCT	0.632									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(4138-4140)Ccc>Tcc		death-associated protein kinase 1							50.0	55.0	54.0					9																	90322049		1967	4132	6099	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90322049C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.4063C>T	9.37:g.90322049C>T	ENSP00000386135:p.Pro1355Ser					DAPK1_ENST00000472284.1_Missense_Mutation_p.P1355S|DAPK1_ENST00000408954.3_Missense_Mutation_p.P1355S|DAPK1_ENST00000491893.1_Missense_Mutation_p.P1289S|DAPK1_ENST00000358077.5_Missense_Mutation_p.P1355S	p.P1380S			P53355	DAPK1_HUMAN			27	4513	+			1355			Death.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.4138C>T	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	0.031	-1.334950	0.01287	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	6.17	5.27	0.74061	Death (3);DEATH-like (2);	0.116382	0.36665	N	0.002467	T	0.74550	0.3731	L	0.35723	1.085	0.53688	D	0.99997	B;B;B	0.11235	0.004;0.001;0.004	B;B;B	0.14578	0.011;0.01;0.011	T	0.64896	-0.6299	10	0.08179	T	0.78	.	8.36	0.32353	0.1531:0.7506:0.0:0.0963	.	1289;1355;1355	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	S	1355;1355;1380;1355;1289	ENSP00000350785:P1355S;ENSP00000417076:P1355S;ENSP00000418885:P1380S;ENSP00000386135:P1355S;ENSP00000419026:P1289S	ENSP00000350785:P1355S	P	+	1	0	DAPK1	89511869	1.000000	0.71417	0.563000	0.28383	0.217000	0.24651	2.971000	0.49248	1.615000	0.50252	0.655000	0.94253	CCC		0.632	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		18	39	0	0	0	1	0	18	39				
GRID1	2894	broad.mit.edu	37	10	87487645	87487645	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:87487645G>A	ENST00000327946.7	-	10	1585	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	GRID1_ENST00000536331.1_Silent_p.S71S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	500					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TCCCGTTCCAGGAGGTGTTAT	0.537										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1498-1500)tcC>tcT		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						119.0	111.0	114.0					10																	87487645		2203	4300	6503	SO:0001819	synonymous_variant	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87487645G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1500C>T	10.37:g.87487645G>A		Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Silent_p.S71S	p.S500S	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			10	1585	-			500					B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	c.1500C>T	CCDS31236.1																																																																																				0.537	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		17	33	0	0	0	1	0	17	33				
SLCO1B1	10599	broad.mit.edu	37	12	21377744	21377744	+	Silent	SNP	A	A	T	rs370991447		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:21377744A>T	ENST00000256958.2	+	14	1932	c.1836A>T	c.(1834-1836)tcA>tcT	p.S612S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	612					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CACGTGGGTCATGTAGGACAT	0.328																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1834-1836)tcA>tcT		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	A		2,4404	4.2+/-10.8	0,2,2201	138.0	132.0	134.0		1836	-4.9	0.0	12		134	0,8600		0,0,4300	no	coding-synonymous	SLCO1B1	NM_006446.4		0,2,6501	TT,TA,AA		0.0,0.0454,0.0154		612/692	21377744	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21377744A>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1836A>T	12.37:g.21377744A>T							p.S612S	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			14	1932	+			612					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	ENST00000256958.2	37	c.1836A>T	CCDS8685.1																																																																																				0.328	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		11	100	0	0	0	1	0	11	100				
PPP4R4	57718	broad.mit.edu	37	14	94708277	94708277	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:94708277T>C	ENST00000304338.3	+	10	1283	c.1129T>C	c.(1129-1131)Tgt>Cgt	p.C377R		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	377					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACGGAAGAACTGTGCTTATAA	0.318																																						ENST00000304338.3																			0				NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(1129-1131)Tgt>Cgt		protein phosphatase 4, regulatory subunit 4							49.0	50.0	50.0					14																	94708277		2203	4298	6501	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94708277T>C	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1129T>C	14.37:g.94708277T>C	ENSP00000305924:p.Cys377Arg						p.C377R	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			10	1283	+			377					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.1129T>C	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	T	17.84	3.488766	0.64074	.	.	ENSG00000119698	ENST00000304338	T	0.33654	1.4	5.25	5.25	0.73442	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.70174	-0.4944	10	0.87932	D	0	-13.0786	15.1314	0.72527	0.0:0.0:0.0:1.0	.	377	Q6NUP7	PP4R4_HUMAN	R	377	ENSP00000305924:C377R	ENSP00000305924:C377R	C	+	1	0	PPP4R4	93778030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.207000	0.72159	1.984000	0.57885	0.482000	0.46254	TGT		0.318	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		7	19	0	0	0	1	0	7	19				
HTR1B	3351	broad.mit.edu	37	6	78172340	78172340	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:78172340G>T	ENST00000369947.2	-	1	1150	c.781C>A	c.(781-783)Ccc>Acc	p.P261T		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	261					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GTGGACCCGGGGGAGTCGGTT	0.592																																						ENST00000369947.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(781-783)Ccc>Acc		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						71.0	82.0	78.0					6																	78172340		2203	4300	6503	SO:0001583	missense	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172340G>T	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.781C>A	6.37:g.78172340G>T	ENSP00000358963:p.Pro261Thr						p.P261T	NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	1150	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	261					Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	c.781C>A	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677997	0.29783	.	.	ENSG00000135312	ENST00000369947	T	0.62364	0.03	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.35793	1.09	0.58432	D	0.999999	B	0.25048	0.117	B	0.25987	0.065	T	0.27400	-1.0075	9	.	.	.	.	17.7254	0.88364	0.0:0.0:1.0:0.0	.	261	P28222	5HT1B_HUMAN	T	261	ENSP00000358963:P261T	.	P	-	1	0	HTR1B	78229059	1.000000	0.71417	0.965000	0.40720	0.529000	0.34654	6.321000	0.72881	2.661000	0.90470	0.555000	0.69702	CCC		0.592	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863		33	71	1	0	6.50621e-10	1	9.06291e-10	33	71				
SPATC1	375686	broad.mit.edu	37	8	145096219	145096219	+	Missense_Mutation	SNP	C	C	A	rs148669001		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:145096219C>A	ENST00000377470.3	+	4	1495	c.1393C>A	c.(1393-1395)Cgc>Agc	p.R465S	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	465						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCCCAGAGCGCGTACGGCT	0.632																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1393-1395)Cgc>Agc		spermatogenesis and centriole associated 1							76.0	57.0	63.0					8																	145096219		2203	4300	6503	SO:0001583	missense	375686							g.chr8:145096219C>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1393C>A	8.37:g.145096219C>A	ENSP00000366690:p.Arg465Ser					SPATC1_ENST00000447830.2_Intron	p.R465S	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	1495	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		465					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.1393C>A	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264224	0.59431	.	.	ENSG00000186583	ENST00000377470	T	0.46063	0.88	4.48	3.54	0.40534	.	0.164928	0.38663	N	0.001606	T	0.55832	0.1945	M	0.72894	2.215	0.80722	D	1	D	0.65815	0.995	P	0.60682	0.878	T	0.57522	-0.7797	10	0.49607	T	0.09	-18.7928	10.2365	0.43286	0.1972:0.8028:0.0:0.0	.	465	Q76KD6	SPERI_HUMAN	S	465	ENSP00000366690:R465S	ENSP00000366690:R465S	R	+	1	0	SPATC1	145168207	1.000000	0.71417	0.994000	0.49952	0.895000	0.52256	3.146000	0.50631	2.212000	0.71576	0.462000	0.41574	CGC		0.632	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		11	31	1	0	0.00136819	1	0.00150787	11	31				
COL11A1	1301	broad.mit.edu	37	1	103487291	103487291	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:103487291T>G	ENST00000370096.3	-	9	1592	c.1280A>C	c.(1279-1281)cAg>cCg	p.Q427P	COL11A1_ENST00000353414.4_Missense_Mutation_p.Q388P|COL11A1_ENST00000358392.2_Missense_Mutation_p.Q439P|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q311P	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	427	Triple-helical region (interrupted).				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCTCCTTTCTGTCCTTTCTC	0.353																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1315-1317)cAg>cCg		collagen, type XI, alpha 1							159.0	146.0	150.0					1																	103487291		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103487291T>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1280A>C	1.37:g.103487291T>G	ENSP00000359114:p.Gln427Pro					COL11A1_ENST00000512756.1_Missense_Mutation_p.Q311P|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q388P|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q427P	p.Q439P	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	9	1633	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	427			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1316A>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307217	0.60305	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95	5.28	5.28	0.74379	.	0.124068	0.53938	D	0.000042	D	0.82742	0.5103	M	0.81341	2.54	0.53005	D	0.999963	B;P;P;B	0.35982	0.396;0.531;0.531;0.396	B;B;B;B	0.38500	0.142;0.275;0.275;0.142	D	0.85062	0.0935	10	0.51188	T	0.08	.	15.2074	0.73190	0.0:0.0:0.0:1.0	.	311;388;439;427	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	P	427;439;388;311;439	ENSP00000359114:Q427P;ENSP00000351163:Q439P;ENSP00000302551:Q388P;ENSP00000426533:Q311P;ENSP00000408640:Q439P	ENSP00000302551:Q388P	Q	-	2	0	COL11A1	103259879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.222000	0.65277	1.996000	0.58369	0.519000	0.50382	CAG		0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		12	24	0	0	0	1	0	12	24				
LCP1	3936	broad.mit.edu	37	13	46730580	46730580	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr13:46730580C>A	ENST00000398576.2	-	8	872	c.484G>T	c.(484-486)Gtc>Ttc	p.V162F	LCP1_ENST00000323076.2_Missense_Mutation_p.V162F|LCP1_ENST00000460190.1_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	162	Actin-binding 1.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TACCAAAGGACAATGCCATCT	0.383			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(484-486)Gtc>Ttc		lymphocyte cytosolic protein 1 (L-plastin)							203.0	196.0	198.0					13																	46730580		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46730580C>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.484G>T	13.37:g.46730580C>A	ENSP00000381581:p.Val162Phe					LCP1_ENST00000323076.2_Missense_Mutation_p.V162F	p.V162F			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	8	872	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	162			Actin-binding 1.|CH 1.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.484G>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686420	0.68157	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000416500	D;D;D	0.95918	-3.85;-3.85;-3.85	5.4	5.4	0.78164	Calponin homology domain (5);	0.052696	0.85682	D	0.000000	D	0.97570	0.9204	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98001	1.0360	10	0.72032	D	0.01	-22.2737	18.5162	0.90936	0.0:1.0:0.0:0.0	.	162	P13796	PLSL_HUMAN	F	162	ENSP00000315757:V162F;ENSP00000381581:V162F;ENSP00000408052:V162F	ENSP00000315757:V162F	V	-	1	0	LCP1	45628581	0.998000	0.40836	0.989000	0.46669	0.997000	0.91878	3.935000	0.56560	2.685000	0.91497	0.655000	0.94253	GTC		0.383	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		17	28	1	0	1.56452e-12	1	2.29367e-12	17	28				
GPR142	350383	broad.mit.edu	37	17	72368531	72368531	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:72368531T>A	ENST00000335666.4	+	4	1229	c.1181T>A	c.(1180-1182)cTg>cAg	p.L394Q		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	394						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGGGTCCACCTGGCCTTGGAT	0.617																																						ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(1180-1182)cTg>cAg		G protein-coupled receptor 142							108.0	90.0	96.0					17																	72368531		2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368531T>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1181T>A	17.37:g.72368531T>A	ENSP00000335158:p.Leu394Gln						p.L394Q	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			4	1229	+			394					A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.1181T>A	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.203845	0.79127	.	.	ENSG00000257008	ENST00000335666	T	0.38887	1.11	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.62196	0.2408	M	0.71581	2.175	0.43953	D	0.996628	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.62310	-0.6881	10	0.37606	T	0.19	-7.1147	14.4694	0.67506	0.0:0.0:0.0:1.0	.	394;1356	Q7Z601;Q8NGB0	GP142_HUMAN;.	Q	394	ENSP00000335158:L394Q	ENSP00000335158:L394Q	L	+	2	0	GPR142	69880126	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.637000	0.83313	2.042000	0.60477	0.454000	0.30748	CTG		0.617	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		28	68	0	0	0	1	0	28	68				
FER1L6	654463	broad.mit.edu	37	8	125083772	125083772	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:125083772C>A	ENST00000522917.1	+	31	4198	c.3992C>A	c.(3991-3993)cCc>cAc	p.P1331H	FER1L6_ENST00000399018.1_Missense_Mutation_p.P1331H|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1331						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TACAAAAGCCCCCAGGATTCT	0.522																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(3991-3993)cCc>cAc		fer-1-like 6 (C. elegans)							75.0	77.0	77.0					8																	125083772		1887	4110	5997	SO:0001583	missense	654463					integral to membrane		g.chr8:125083772C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.3992C>A	8.37:g.125083772C>A	ENSP00000428280:p.Pro1331His					FER1L6_ENST00000399018.1_Missense_Mutation_p.P1331H|FER1L6-AS2_ENST00000520031.1_RNA	p.P1331H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		31	4198	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1331						Missense_Mutation	SNP	ENST00000522917.1	37	c.3992C>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.439648	0.25900	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.83335	-1.71;-1.71	5.96	3.25	0.37280	.	0.726564	0.13135	U	0.411137	D	0.82513	0.5053	M	0.79693	2.465	0.46631	D	0.999138	B	0.09022	0.002	B	0.08055	0.003	T	0.77040	-0.2735	10	0.66056	D	0.02	-1.941	9.165	0.37046	0.0:0.7283:0.0:0.2717	.	1331	Q2WGJ9	FR1L6_HUMAN	H	1331	ENSP00000428280:P1331H;ENSP00000381982:P1331H	ENSP00000381982:P1331H	P	+	2	0	FER1L6	125152953	0.998000	0.40836	0.447000	0.26932	0.284000	0.27059	2.364000	0.44187	0.443000	0.26582	-0.136000	0.14681	CCC		0.522	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		12	21	1	0	2.27111e-07	1	2.90776e-07	12	21				
OR5M11	219487	broad.mit.edu	37	11	56309893	56309893	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:56309893T>A	ENST00000528616.2	-	1	864	c.841A>T	c.(841-843)Agt>Tgt	p.S281C		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGTACCGGACTCACAAAGGTG	0.388																																						ENST00000528616.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						c.(841-843)Agt>Tgt		olfactory receptor, family 5, subfamily M, member 11							87.0	81.0	83.0					11																	56309893		1885	4115	6000	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56309893T>A	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.841A>T	11.37:g.56309893T>A	ENSP00000432417:p.Ser281Cys						p.S281C	NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN			1	864	-			281					B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.841A>T	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	T	9.915	1.210622	0.22289	.	.	ENSG00000255223	ENST00000528616	T	0.39787	1.06	4.85	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.46328	0.1387	L	0.61036	1.89	0.27191	N	0.960428	B	0.25105	0.118	B	0.37346	0.247	T	0.50600	-0.8809	9	0.87932	D	0	.	8.5989	0.33732	0.0:0.0915:0.0:0.9085	.	281	Q96RB7	OR5MB_HUMAN	C	281	ENSP00000432417:S281C	ENSP00000432417:S281C	S	-	1	0	OR5M11	56066469	0.001000	0.12720	0.137000	0.22149	0.300000	0.27592	0.857000	0.27831	0.915000	0.36847	0.514000	0.50259	AGT		0.388	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245		8	22	0	0	0	1	0	8	22				
DENND1C	79958	broad.mit.edu	37	19	6478988	6478988	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:6478988G>T	ENST00000381480.2	-	5	368	c.256C>A	c.(256-258)Cgc>Agc	p.R86S	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.R42S	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	86	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCCCGCAGGCGGCAGAAACCA	0.647																																						ENST00000381480.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						c.(256-258)Cgc>Agc		DENN/MADD domain containing 1C							51.0	62.0	58.0					19																	6478988		1895	4111	6006	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6478988G>T	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.256C>A	19.37:g.6478988G>T	ENSP00000370889:p.Arg86Ser					DENND1C_ENST00000543576.1_Missense_Mutation_p.R42S|DENND1C_ENST00000591030.1_5'UTR	p.R86S	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN			5	368	-			86			UDENN.		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.256C>A	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524191	0.85600	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.49432	0.78;0.78	5.03	5.03	0.67393	uDENN (3);	0.057232	0.64402	D	0.000001	T	0.73079	0.3541	M	0.89095	3.005	0.49687	D	0.999816	D	0.64830	0.994	D	0.72075	0.976	T	0.78703	-0.2101	10	0.62326	D	0.03	-19.0929	15.8312	0.78752	0.0:0.0:1.0:0.0	.	86	Q8IV53	DEN1C_HUMAN	S	86;42	ENSP00000370889:R86S;ENSP00000437805:R42S	ENSP00000370889:R86S	R	-	1	0	DENND1C	6429988	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.557000	0.60782	2.348000	0.79779	0.313000	0.20887	CGC		0.647	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2	NM_024898		14	54	1	0	0.000219431	1	0.000251763	14	54				
KRTAP13-1	140258	broad.mit.edu	37	21	31768565	31768565	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:31768565G>T	ENST00000355459.2	+	1	174	c.161G>T	c.(160-162)aGg>aTg	p.R54M		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	54	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCTCTATAGGGGCTGTCAG	0.612																																						ENST00000355459.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(160-162)aGg>aTg		keratin associated protein 13-1							64.0	65.0	65.0					21																	31768565		2203	4300	6503	SO:0001583	missense	140258					intermediate filament		g.chr21:31768565G>T	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.161G>T	21.37:g.31768565G>T	ENSP00000347635:p.Arg54Met						p.R54M	NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN			1	174	+			54			5 X 10 AA approximate repeats.		Q14D20|Q3LI79	Missense_Mutation	SNP	ENST00000355459.2	37	c.161G>T	CCDS13590.2	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301543	0.23736	.	.	ENSG00000198390	ENST00000355459	T	0.03212	4.01	4.39	0.477	0.16784	.	1.167460	0.06400	N	0.718560	T	0.07638	0.0192	M	0.61703	1.905	0.09310	N	1	P	0.45240	0.854	P	0.47891	0.56	T	0.31833	-0.9929	10	0.54805	T	0.06	.	4.0066	0.09603	0.3845:0.1735:0.442:0.0	.	54	Q8IUC0	KR131_HUMAN	M	54	ENSP00000347635:R54M	ENSP00000347635:R54M	R	+	2	0	KRTAP13-1	30690436	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.401000	0.20948	0.072000	0.16694	0.557000	0.71058	AGG		0.612	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3			26	41	1	0	1.1804e-14	1	1.79708e-14	26	41				
NTNG1	22854	broad.mit.edu	37	1	107867514	107867514	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:107867514A>G	ENST00000370068.1	+	3	1703	c.857A>G	c.(856-858)tAc>tGc	p.Y286C	NTNG1_ENST00000370074.4_Missense_Mutation_p.Y286C|NTNG1_ENST00000370066.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370071.2_Missense_Mutation_p.Y286C|NTNG1_ENST00000370073.2_Missense_Mutation_p.Y286C|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370061.3_Missense_Mutation_p.Y286C|NTNG1_ENST00000542803.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370072.3_Missense_Mutation_p.Y286C|NTNG1_ENST00000370070.2_Missense_Mutation_p.Y286C|NTNG1_ENST00000370067.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370065.1_Missense_Mutation_p.Y286C			Q9Y2I2	NTNG1_HUMAN	netrin G1	286	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CGCTACTTTTACGCGATCTCA	0.463																																						ENST00000370067.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(856-858)tAc>tGc		netrin G1							62.0	64.0	63.0					1																	107867514		2203	4298	6501	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107867514A>G	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.857A>G	1.37:g.107867514A>G	ENSP00000359085:p.Tyr286Cys					NTNG1_ENST00000542803.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370065.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370068.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370074.4_Missense_Mutation_p.Y286C|NTNG1_ENST00000370066.1_Missense_Mutation_p.Y286C|NTNG1_ENST00000370073.2_Missense_Mutation_p.Y286C|NTNG1_ENST00000370072.3_Missense_Mutation_p.Y286C|NTNG1_ENST00000370071.2_Missense_Mutation_p.Y286C|NTNG1_ENST00000370061.3_Missense_Mutation_p.Y286C|NTNG1_ENST00000370070.2_Missense_Mutation_p.Y286C|NTNG1_ENST00000477948.1_3'UTR	p.Y286C			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	3	1484	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	286			Laminin N-terminal.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.857A>G	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067971	0.76301	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	D;D;D;D;D;D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	6.05	6.05	0.98169	Laminin, N-terminal (3);	0.000000	0.56097	D	0.000040	D	0.94072	0.8100	H	0.94582	3.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.95496	0.8573	10	0.87932	D	0	.	16.6	0.84812	1.0:0.0:0.0:0.0	.	286;286;286;286;286	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	C	286;286;286;286;286;286;286;286;47;47;286;286;286;286;286;286	ENSP00000359090:Y286C;ENSP00000359088:Y286C;ENSP00000440561:Y286C;ENSP00000359078:Y286C;ENSP00000359089:Y286C;ENSP00000359087:Y286C;ENSP00000359091:Y286C;ENSP00000359085:Y286C;ENSP00000359084:Y286C;ENSP00000359083:Y286C;ENSP00000359082:Y286C	ENSP00000294649:Y286C	Y	+	2	0	NTNG1	107669037	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.339000	0.96797	2.323000	0.78572	0.533000	0.62120	TAC		0.463	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		14	32	0	0	0	1	0	14	32				
KYNU	8942	broad.mit.edu	37	2	143742671	143742671	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:143742671G>T	ENST00000264170.4	+	9	1006	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	KYNU_ENST00000409512.1_Missense_Mutation_p.D250Y|KYNU_ENST00000375773.2_Missense_Mutation_p.D250Y	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TGTTGGCTTTGATCTAGCACA	0.343																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(748-750)Gat>Tat		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						208.0	192.0	198.0					2																	143742671		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143742671G>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.748G>T	2.37:g.143742671G>T	ENSP00000264170:p.Asp250Tyr					KYNU_ENST00000375773.2_Missense_Mutation_p.D250Y|KYNU_ENST00000409512.1_Missense_Mutation_p.D250Y	p.D250Y	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	9	1006	+			250						Missense_Mutation	SNP	ENST00000264170.4	37	c.748G>T	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363122	0.82353	.	.	ENSG00000115919	ENST00000264170;ENST00000375773;ENST00000409512	D;D;D	0.92397	-3.03;-3.03;-3.03	6.07	6.07	0.98685	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.098619	0.64402	D	0.000002	D	0.97517	0.9187	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97670	1.0166	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	250;250	Q16719;Q9BVW3	KYNU_HUMAN;.	Y	250	ENSP00000264170:D250Y;ENSP00000364928:D250Y;ENSP00000386731:D250Y	ENSP00000264170:D250Y	D	+	1	0	KYNU	143459141	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	8.385000	0.90163	2.890000	0.99128	0.650000	0.86243	GAT		0.343	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		7	21	1	0	0.00307968	1	0.00334748	7	21				
HGF	3082	broad.mit.edu	37	7	81392160	81392160	+	Silent	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:81392160A>T	ENST00000222390.5	-	2	343	c.117T>A	c.(115-117)atT>atA	p.I39I	HGF_ENST00000457544.2_Silent_p.I39I|HGF_ENST00000423064.2_Silent_p.I39I|HGF_ENST00000453411.1_Silent_p.I39I|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000444829.2_Silent_p.I39I|HGF_ENST00000354224.6_Silent_p.I39I	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	39	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TGAATTCATGAATTGTATTTC	0.269																																						ENST00000222390.5																			0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(115-117)atT>atA		hepatocyte growth factor (hepapoietin A; scatter factor)							152.0	133.0	140.0					7																	81392160		2202	4299	6501	SO:0001819	synonymous_variant	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81392160A>T		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.117T>A	7.37:g.81392160A>T						HGF_ENST00000423064.2_Silent_p.I39I|HGF_ENST00000457544.2_Silent_p.I39I|HGF_ENST00000354224.6_Silent_p.I39I|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000453411.1_Silent_p.I39I|HGF_ENST00000444829.2_Silent_p.I39I	p.I39I	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN			2	343	-			39			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Silent	SNP	ENST00000222390.5	37	c.117T>A	CCDS5597.1																																																																																				0.269	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		6	7	0	0	0	1	0	6	7				
FAM187B	148109	broad.mit.edu	37	19	35719114	35719114	+	Missense_Mutation	SNP	G	G	T	rs147533788		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:35719114G>T	ENST00000324675.3	-	1	518	c.470C>A	c.(469-471)cCg>cAg	p.P157Q		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	157						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						ACACTCGCCCGGCTCCTCACA	0.607																																						ENST00000324675.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						c.(469-471)cCg>cAg		family with sequence similarity 187, member B							66.0	65.0	65.0					19																	35719114		2203	4300	6503	SO:0001583	missense	148109					integral to membrane		g.chr19:35719114G>T	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.470C>A	19.37:g.35719114G>T	ENSP00000323355:p.Pro157Gln						p.P157Q	NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN			1	518	-			157					Q8N7G6	Missense_Mutation	SNP	ENST00000324675.3	37	c.470C>A	CCDS12448.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017253	0.35606	.	.	ENSG00000177558	ENST00000324675	T	0.23147	1.92	5.07	-3.02	0.05446	.	0.811537	0.10685	N	0.645876	T	0.24624	0.0597	L	0.45581	1.43	0.09310	N	1	P	0.52316	0.952	P	0.51101	0.659	T	0.16217	-1.0410	10	0.42905	T	0.14	-12.3117	3.7818	0.08683	0.329:0.0:0.4055:0.2655	.	157	Q17R55	F187B_HUMAN	Q	157	ENSP00000323355:P157Q	ENSP00000323355:P157Q	P	-	2	0	FAM187B	40410954	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	-0.175000	0.09825	-0.220000	0.09988	0.655000	0.94253	CCG		0.607	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378854.1	NM_152481		28	58	1	0	1.16021e-09	1	1.59277e-09	28	58				
OGFRL1	79627	broad.mit.edu	37	6	72011258	72011258	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:72011258A>G	ENST00000370435.4	+	7	996	c.862A>G	c.(862-864)Aga>Gga	p.R288G	RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	288						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTATACAATTAGAGACAGAAG	0.408																																						ENST00000370435.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						c.(862-864)Aga>Gga		opioid growth factor receptor-like 1							61.0	67.0	65.0					6																	72011258		2203	4300	6503	SO:0001583	missense	79627					membrane	receptor activity	g.chr6:72011258A>G		CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.862A>G	6.37:g.72011258A>G	ENSP00000359464:p.Arg288Gly					RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA	p.R288G	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN			7	996	+			288					Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	ENST00000370435.4	37	c.862A>G	CCDS34482.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.497259	0.44352	.	.	ENSG00000119900	ENST00000370435	T	0.58210	0.35	6.04	2.2	0.27929	Opioid growth factor receptor (OGFr) conserved domain (1);	0.045369	0.85682	D	0.000000	T	0.57110	0.2031	M	0.64997	1.995	0.41921	D	0.990518	D	0.67145	0.996	D	0.68765	0.96	T	0.62329	-0.6877	10	0.62326	D	0.03	-30.6096	13.9231	0.63945	0.6416:0.3584:0.0:0.0	.	288	Q5TC84	OGRL1_HUMAN	G	288	ENSP00000359464:R288G	ENSP00000359464:R288G	R	+	1	2	OGFRL1	72067979	1.000000	0.71417	0.830000	0.32933	0.153000	0.21895	3.571000	0.53841	0.134000	0.18681	-0.460000	0.05396	AGA		0.408	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041153.2	NM_024576		22	34	0	0	0	1	0	22	34				
OR2T4	127074	broad.mit.edu	37	1	248525459	248525459	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:248525459C>A	ENST00000366475.1	+	1	577	c.577C>A	c.(577-579)Ccc>Acc	p.P193T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACATTCACTCCCATCACCAT	0.522																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(577-579)Ccc>Acc		olfactory receptor, family 2, subfamily T, member 4							251.0	218.0	229.0					1																	248525459		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525459C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.577C>A	1.37:g.248525459C>A	ENSP00000355431:p.Pro193Thr						p.P193T	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	577	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		193					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.577C>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	2.949	-0.217270	0.06101	.	.	ENSG00000196944	ENST00000366475	T	0.36520	1.25	3.61	-2.78	0.05859	GPCR, rhodopsin-like superfamily (1);	0.146672	0.31884	N	0.006919	T	0.17789	0.0427	N	0.11651	0.15	0.09310	N	1	B	0.32188	0.359	B	0.41646	0.362	T	0.18116	-1.0347	10	0.32370	T	0.25	.	3.6841	0.08321	0.2505:0.2958:0.3697:0.084	.	193	Q8NH00	OR2T4_HUMAN	T	193	ENSP00000355431:P193T	ENSP00000355431:P193T	P	+	1	0	OR2T4	246592082	0.000000	0.05858	0.019000	0.16419	0.091000	0.18340	-4.170000	0.00281	-0.243000	0.09653	-0.202000	0.12741	CCC		0.522	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		53	104	1	0	5.39261e-20	1	8.62455e-20	53	104				
ZSCAN18	65982	broad.mit.edu	37	19	58596713	58596713	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:58596713G>T	ENST00000240727.6	-	7	1271	c.872C>A	c.(871-873)gCc>gAc	p.A291D	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A347D|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A291D|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A155D	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	291					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTCCTCGCAGGCGCACCCAGC	0.746																																						ENST00000240727.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19						c.(871-873)gCc>gAc		zinc finger and SCAN domain containing 18							6.0	8.0	7.0					19																	58596713		1504	3143	4647	SO:0001583	missense	65982				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58596713G>T	AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.872C>A	19.37:g.58596713G>T	ENSP00000240727:p.Ala291Asp					ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A155D|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A347D|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A291D	p.A291D	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	7	1271	-		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)	291					B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Missense_Mutation	SNP	ENST00000240727.6	37	c.872C>A	CCDS12971.1	.	.	.	.	.	.	.	.	.	.	G	8.743	0.919416	0.17982	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02579	4.55;4.24	2.43	-3.01	0.05463	.	2.362100	0.01746	N	0.029670	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B;B;B;B	0.23650	0.032;0.089;0.054;0.037	B;B;B;B	0.23574	0.021;0.022;0.047;0.021	T	0.42378	-0.9455	10	0.18276	T	0.48	-0.1861	3.1449	0.06468	0.2878:0.0:0.3703:0.3418	.	347;155;290;291	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	D	347;291;155	ENSP00000240727:A291D;ENSP00000392653:A155D	ENSP00000240727:A291D	A	-	2	0	ZSCAN18	63288525	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.656000	0.05342	-0.900000	0.03896	-1.108000	0.02087	GCC		0.746	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926		20	53	1	0	1.00905e-13	1	1.51676e-13	20	53				
SMAD3	4088	broad.mit.edu	37	15	67473711	67473711	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:67473711C>A	ENST00000327367.4	+	6	1101	c.791C>A	c.(790-792)tCc>tAc	p.S264Y	SMAD3_ENST00000540846.2_Missense_Mutation_p.S159Y|SMAD3_ENST00000439724.3_Missense_Mutation_p.S220Y|SMAD3_ENST00000537194.2_Missense_Mutation_p.S69Y	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	264	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell-cell junction organization (GO:0045216)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|embryonic pattern specification (GO:0009880)|endoderm development (GO:0007492)|evasion or tolerance of host defenses by virus (GO:0019049)|extrinsic apoptotic signaling pathway (GO:0097191)|gene expression (GO:0010467)|heart looping (GO:0001947)|immune response (GO:0006955)|immune system development (GO:0002520)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|lens fiber cell differentiation (GO:0070306)|liver development (GO:0001889)|mesoderm formation (GO:0001707)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)|nodal signaling pathway (GO:0038092)|osteoblast development (GO:0002076)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta3 production (GO:0032916)|primary miRNA processing (GO:0031053)|protein stabilization (GO:0050821)|regulation of binding (GO:0051098)|regulation of epithelial cell proliferation (GO:0050678)|regulation of immune response (GO:0050776)|regulation of striated muscle tissue development (GO:0016202)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|somitogenesis (GO:0001756)|T cell activation (GO:0042110)|thyroid gland development (GO:0030878)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transport (GO:0006810)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|bHLH transcription factor binding (GO:0043425)|chromatin DNA binding (GO:0031490)|co-SMAD binding (GO:0070410)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		ACCGACCCCTCCAATTCGGAG	0.587																																						ENST00000327367.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(790-792)tCc>tAc		SMAD family member 3							67.0	63.0	64.0					15																	67473711		2201	4299	6500	SO:0001583	missense	4088				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr15:67473711C>A	BC050743	CCDS10222.1, CCDS45288.1, CCDS53950.1, CCDS53951.1	15q21-q22	2006-11-06	2006-11-06	2004-05-26	ENSG00000166949	ENSG00000166949		"""SMADs"""	6769	protein-coding gene	gene with protein product		603109	"""MAD, mothers against decapentaplegic homolog 3 (Drosophila)"", ""SMAD, mothers against DPP homolog 3 (Drosophila)"""	MADH3		8774881, 8673135	Standard	NM_001145102		Approved	JV15-2, HsT17436	uc002aqj.3	P84022	OTTHUMG00000133230	ENST00000327367.4:c.791C>A	15.37:g.67473711C>A	ENSP00000332973:p.Ser264Tyr					SMAD3_ENST00000540846.2_Missense_Mutation_p.S159Y|SMAD3_ENST00000537194.2_Missense_Mutation_p.S69Y|SMAD3_ENST00000439724.3_Missense_Mutation_p.S220Y	p.S264Y	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)	6	1101	+			264			MH2.		A8K4B6|B7Z4Z5|B7Z6M9|B7Z9Q2|F5H383|O09064|O09144|O14510|O35273|Q92940|Q93002|Q9GKR4	Missense_Mutation	SNP	ENST00000327367.4	37	c.791C>A	CCDS10222.1	.	.	.	.	.	.	.	.	.	.	C	32	5.189698	0.94923	.	.	ENSG00000166949	ENST00000327367;ENST00000535241;ENST00000540846;ENST00000439724;ENST00000537194	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.1	5.1	0.69264	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.99636	1.0987	10	0.87932	D	0	.	18.8753	0.92332	0.0:1.0:0.0:0.0	.	220;264	B7Z4Z5;P84022	.;SMAD3_HUMAN	Y	264;264;159;220;69	ENSP00000332973:S264Y;ENSP00000437757:S159Y;ENSP00000401133:S220Y;ENSP00000445348:S69Y	ENSP00000332973:S264Y	S	+	2	0	SMAD3	65260765	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.675000	0.84002	2.515000	0.84797	0.555000	0.69702	TCC		0.587	SMAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256967.2	NM_005902		17	27	1	0	6.44725e-10	1	9.00719e-10	17	27				
ASL	435	broad.mit.edu	37	7	65551735	65551735	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:65551735G>T	ENST00000304874.9	+	8	631	c.529G>T	c.(529-531)Gcc>Tcc	p.A177S	ASL_ENST00000395332.3_Missense_Mutation_p.A177S|ASL_ENST00000380839.4_Intron|AC068533.7_ENST00000450043.1_5'Flank|ASL_ENST00000395331.3_Missense_Mutation_p.A177S	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	177					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCACAGCCACGCCGTGGCACT	0.687																																						ENST00000304874.9																			0				breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18						c.(529-531)Gcc>Tcc		argininosuccinate lyase	L-Arginine(DB00125)						23.0	23.0	23.0					7																	65551735		2202	4299	6501	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65551735G>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.529G>T	7.37:g.65551735G>T	ENSP00000307188:p.Ala177Ser					ASL_ENST00000380839.4_Intron|ASL_ENST00000395332.3_Missense_Mutation_p.A177S|ASL_ENST00000395331.3_Missense_Mutation_p.A177S	p.A177S	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN			8	631	+			177					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.529G>T	CCDS5531.1	.	.	.	.	.	.	.	.	.	.	g	16.07	3.017749	0.54576	.	.	ENSG00000126522	ENST00000304874;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D	0.99277	-5.67;-5.67;-5.67;-5.67	5.65	4.76	0.60689	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.165057	0.53938	D	0.000056	D	0.98960	0.9646	M	0.68952	2.095	0.58432	D	0.999999	P;P;P	0.44241	0.571;0.829;0.722	P;P;P	0.54100	0.738;0.742;0.742	D	0.98922	1.0784	10	0.59425	D	0.04	.	13.9682	0.64223	0.0737:0.0:0.9263:0.0	.	177;177;177	B4DU69;E7EMI0;P04424	.;.;ARLY_HUMAN	S	177;177;112;177	ENSP00000307188:A177S;ENSP00000378741:A177S;ENSP00000354710:A112S;ENSP00000378740:A177S	ENSP00000307188:A177S	A	+	1	0	ASL	65189170	1.000000	0.71417	0.095000	0.20976	0.041000	0.13682	5.626000	0.67777	1.378000	0.46305	0.655000	0.94253	GCC		0.687	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		3	9	1	0	1	1	1	3	9				
GLIS3	169792	broad.mit.edu	37	9	4118407	4118407	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:4118407G>T	ENST00000324333.10	-	3	799	c.606C>A	c.(604-606)agC>agA	p.S202R	GLIS3_ENST00000381971.3_Missense_Mutation_p.S357R	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	202					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGGGAATGCAGCTGCCGCGCA	0.736																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(604-606)agC>agA		GLIS family zinc finger 3							11.0	10.0	11.0					9																	4118407		2177	4243	6420	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:4118407G>T	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.606C>A	9.37:g.4118407G>T	ENSP00000325494:p.Ser202Arg					GLIS3_ENST00000381971.3_Missense_Mutation_p.S357R	p.S202R	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	3	799	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	202					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.606C>A	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858152	0.32791	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.12879	2.67;2.64	5.63	3.72	0.42706	.	0.104896	0.39146	N	0.001459	T	0.11324	0.0276	L	0.49126	1.545	0.43652	D	0.996068	B;B	0.25809	0.135;0.083	B;B	0.21151	0.033;0.015	T	0.12502	-1.0545	10	0.17369	T	0.5	.	8.1203	0.30967	0.3189:0.0:0.6811:0.0	.	357;202	Q8NEA6-2;Q8NEA6	.;GLIS3_HUMAN	R	202;357	ENSP00000325494:S202R;ENSP00000371398:S357R	ENSP00000325494:S202R	S	-	3	2	GLIS3	4108407	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	2.995000	0.49441	0.664000	0.31047	-0.345000	0.07892	AGC		0.736	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		14	16	1	0	4.3838e-07	1	5.53805e-07	14	16				
IQCH	64799	broad.mit.edu	37	15	67687863	67687863	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:67687863G>T	ENST00000335894.4	+	13	1933	c.1867G>T	c.(1867-1869)Gtt>Ttt	p.V623F	IQCH_ENST00000360277.4_Intron|IQCH_ENST00000546225.1_Intron|IQCH_ENST00000358767.3_Intron	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	623										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAATGTGGCAGTTCCTCCTGG	0.428																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(1867-1869)Gtt>Ttt		IQ motif containing H							101.0	95.0	97.0					15																	67687863		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67687863G>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1867G>T	15.37:g.67687863G>T	ENSP00000336861:p.Val623Phe					IQCH_ENST00000546225.1_Intron|IQCH_ENST00000360277.4_Intron|IQCH_ENST00000358767.3_Intron	p.V623F	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	13	1933	+			623					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.1867G>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	G	5.222	0.226497	0.09916	.	.	ENSG00000103599	ENST00000335894	T	0.49432	0.78	6.17	1.51	0.23008	.	0.615413	0.16635	N	0.205901	T	0.40498	0.1119	M	0.63428	1.95	0.09310	N	0.999999	B	0.14805	0.011	B	0.20767	0.031	T	0.34403	-0.9830	10	0.42905	T	0.14	-9.3466	5.2988	0.15766	0.4406:0.0:0.4294:0.13	.	623	Q86VS3	IQCH_HUMAN	F	623	ENSP00000336861:V623F	ENSP00000336861:V623F	V	+	1	0	IQCH	65474917	0.003000	0.15002	0.152000	0.22495	0.100000	0.18952	0.350000	0.20079	0.004000	0.14682	0.655000	0.94253	GTT		0.428	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		26	43	1	0	2.65835e-16	1	4.09972e-16	26	43				
SPEG	10290	broad.mit.edu	37	2	220333618	220333618	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:220333618G>T	ENST00000312358.7	+	12	3471	c.3339G>T	c.(3337-3339)cgG>cgT	p.R1113R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1113	Ig-like 5.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCGGCTGCGGCAGGACGGGG	0.642																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(3337-3339)cgG>cgT		SPEG complex locus							24.0	30.0	28.0					2																	220333618		2078	4213	6291	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220333618G>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3339G>T	2.37:g.220333618G>T						SPEG_ENST00000485813.1_3'UTR	p.R1113R	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	12	3471	+		Renal(207;0.0183)	1113			Ig-like 5.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.3339G>T	CCDS42824.1																																																																																				0.642	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		10	26	1	0	0.0581538	1	0.0597901	10	26				
TSPAN14	81619	broad.mit.edu	37	10	82271934	82271934	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:82271934G>T	ENST00000429989.3	+	6	708	c.485G>T	c.(484-486)tGg>tTg	p.W162L	TSPAN14_ENST00000372156.1_Missense_Mutation_p.W162L|TSPAN14_ENST00000372158.1_Missense_Mutation_p.W162L|TSPAN14_ENST00000341863.6_Missense_Mutation_p.W105L|TSPAN14_ENST00000481124.1_Missense_Mutation_p.W39L|TSPAN14_ENST00000372164.3_Missense_Mutation_p.W145L	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	162					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CCTGAAGACTGGGACCTCAAC	0.597																																						ENST00000429989.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(484-486)tGg>tTg		tetraspanin 14							108.0	98.0	102.0					10																	82271934		2203	4300	6503	SO:0001583	missense	81619					integral to membrane		g.chr10:82271934G>T	AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.485G>T	10.37:g.82271934G>T	ENSP00000396270:p.Trp162Leu					TSPAN14_ENST00000341863.6_Missense_Mutation_p.W105L|TSPAN14_ENST00000372156.1_Missense_Mutation_p.W162L|TSPAN14_ENST00000372164.3_Missense_Mutation_p.W145L|TSPAN14_ENST00000372158.1_Missense_Mutation_p.W162L|TSPAN14_ENST00000481124.1_Missense_Mutation_p.W39L	p.W162L	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	Colorectal(32;0.229)		6	708	+			162					A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	Missense_Mutation	SNP	ENST00000429989.3	37	c.485G>T	CCDS7369.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985685	0.93044	.	.	ENSG00000108219	ENST00000429989;ENST00000481124;ENST00000372157;ENST00000372164;ENST00000372158;ENST00000341863;ENST00000372156	T;T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.25	5.25	0.73442	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.91946	0.5567	10	0.28530	T	0.3	-20.7217	16.3451	0.83120	0.0:0.0:1.0:0.0	.	39;162;145	B4DHY6;Q8NG11;Q8NG11-2	.;TSN14_HUMAN;.	L	162;39;132;145;162;105;162	ENSP00000396270:W162L;ENSP00000418195:W39L;ENSP00000361230:W132L;ENSP00000361237:W145L;ENSP00000361231:W162L;ENSP00000344076:W105L;ENSP00000361229:W162L	ENSP00000344076:W105L	W	+	2	0	TSPAN14	82261914	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.740000	0.98839	2.448000	0.82819	0.563000	0.77884	TGG		0.597	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049081.2	NM_030927		12	27	1	0	2.27111e-07	1	2.90776e-07	12	27				
SLC41A2	84102	broad.mit.edu	37	12	105280120	105280120	+	Silent	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:105280120T>A	ENST00000258538.3	-	5	1105	c.978A>T	c.(976-978)atA>atT	p.I326I		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	326					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TGGCAAGAGTTATAAGGTCGC	0.368																																					Esophageal Squamous(195;176 2919 4272 35572)	ENST00000258538.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						c.(976-978)atA>atT		solute carrier family 41 (magnesium transporter), member 2							108.0	93.0	98.0					12																	105280120		2203	4300	6503	SO:0001819	synonymous_variant	84102					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr12:105280120T>A	BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.978A>T	12.37:g.105280120T>A							p.I326I	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN			5	1105	-			326					Q3KP68|Q9H0E5	Silent	SNP	ENST00000258538.3	37	c.978A>T	CCDS9100.2																																																																																				0.368	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346850.3	NM_032148		7	22	0	0	0	1	0	7	22				
CDH10	1008	broad.mit.edu	37	5	24492992	24492992	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:24492992C>A	ENST00000264463.4	-	10	2065	c.1558G>T	c.(1558-1560)Ggt>Tgt	p.G520C	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	520	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G520S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCTGTCCACCTAAAGGGTCA	0.328										HNSCC(23;0.051)																												ENST00000264463.4																			1	Substitution - Missense(1)	p.G520S(1)	lung(1)	NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1558-1560)Ggt>Tgt		cadherin 10, type 2 (T2-cadherin)							168.0	181.0	177.0					5																	24492992		2203	4298	6501	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492992C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1558G>T	5.37:g.24492992C>A	ENSP00000264463:p.Gly520Cys	HNSCC(23;0.051)				CDH10_ENST00000502921.1_5'UTR	p.G520C	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	2065	-			520			Cadherin 5.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1558G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861258	0.71949	.	.	ENSG00000040731	ENST00000264463	T	0.52754	0.65	4.94	4.94	0.65067	Cadherin (4);Cadherin-like (1);	0.179260	0.48286	D	0.000185	T	0.60011	0.2236	L	0.39898	1.24	0.47737	D	0.999505	D	0.69078	0.997	D	0.65874	0.939	T	0.63355	-0.6656	10	0.72032	D	0.01	.	17.5183	0.87780	0.0:1.0:0.0:0.0	.	520	Q9Y6N8	CAD10_HUMAN	C	520	ENSP00000264463:G520C	ENSP00000264463:G520C	G	-	1	0	CDH10	24528749	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.231000	0.51294	2.449000	0.82847	0.585000	0.79938	GGT		0.328	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		11	34	1	0	1.5842e-08	1	2.09609e-08	11	34				
C1QTNF3	114899	broad.mit.edu	37	5	34033498	34033498	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:34033498C>A	ENST00000231338.7	-	3	349	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	C1QTNF3_ENST00000382065.3_Missense_Mutation_p.D161Y|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.D72Y|C1QTNF3_ENST00000513065.1_5'Flank	NM_030945.3	NP_112207.1	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	88	Collagen-like.				cellular triglyceride homeostasis (GO:0035356)|fat cell differentiation (GO:0045444)|negative regulation of gene expression (GO:0010629)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of cytokine secretion (GO:0050715)|protein trimerization (GO:0070206)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TCACCTTTGTCGCCCTTCTCA	0.547																																						ENST00000382065.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17						c.(481-483)Gac>Tac		C1q and tumor necrosis factor related protein 3							157.0	154.0	155.0					5																	34033498		2203	4300	6503	SO:0001583	missense	114899					collagen		g.chr5:34033498C>A	AF329837	CCDS3904.1, CCDS34141.1	5p13	2009-05-20			ENSG00000082196	ENSG00000082196			14326	protein-coding gene	gene with protein product	"""cartonectin"""	612045				18421280	Standard	NM_030945		Approved	CTRP3, Cors, Corcs, 2310005P21Rik, Cors-26	uc003jio.3	Q9BXJ4	OTTHUMG00000090735	ENST00000231338.7:c.262G>T	5.37:g.34033498C>A	ENSP00000231338:p.Asp88Tyr					C1QTNF3_ENST00000231338.7_Missense_Mutation_p.D88Y	p.D161Y	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN			3	1187	-	all_lung(31;0.0207)		88			C1q.		Q0VAN4|Q542Y2|Q6MZN1|Q96KY1	Missense_Mutation	SNP	ENST00000231338.7	37	c.481G>T	CCDS3904.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779241	0.70107	.	.	ENSG00000082196	ENST00000382065;ENST00000231338	D;D	0.90900	-2.75;-2.75	5.53	5.53	0.82687	.	.	.	.	.	D	0.93986	0.8074	L	0.53617	1.68	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.924	D	0.91423	0.5160	9	0.24483	T	0.36	.	19.8372	0.96661	0.0:1.0:0.0:0.0	.	161;88	Q0VAN4;Q9BXJ4	.;C1QT3_HUMAN	Y	161;88	ENSP00000371497:D161Y;ENSP00000231338:D88Y	ENSP00000231338:D88Y	D	-	1	0	C1QTNF3	34069255	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.445000	0.66594	2.770000	0.95276	0.655000	0.94253	GAC		0.547	C1QTNF3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207469.1	NM_030945		27	49	1	0	7.41945e-09	1	9.92743e-09	27	49				
EGLN3	112399	broad.mit.edu	37	14	34419948	34419948	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:34419948C>T	ENST00000250457.3	-	1	339	c.11G>A	c.(10-12)gGa>gAa	p.G4E	EGLN3_ENST00000553215.1_Missense_Mutation_p.G4E|EGLN3_ENST00000547327.2_Missense_Mutation_p.G4E	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	4					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|protein hydroxylation (GO:0018126)|regulation of cell proliferation (GO:0042127)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	CATGATGTGTCCCAGGGGCAT	0.627																																					Esophageal Squamous(161;245 1904 13895 22565 30076)	ENST00000547327.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15						c.(10-12)gGa>gAa		egl-9 family hypoxia-inducible factor 3	Vitamin C(DB00126)						74.0	81.0	79.0					14																	34419948		2203	4300	6503	SO:0001583	missense	112399				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding	g.chr14:34419948C>T	AJ310545	CCDS9646.1	14q12	2013-08-21	2013-08-21		ENSG00000129521	ENSG00000129521			14661	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 3"""	606426	"""EGL nine (C.elegans) homolog 3"", ""egl nine homolog 3 (C. elegans)"""				Standard	NM_022073		Approved	PHD3, HIFPH3	uc001wsa.4	Q9H6Z9	OTTHUMG00000029498	ENST00000250457.3:c.11G>A	14.37:g.34419948C>T	ENSP00000250457:p.Gly4Glu					EGLN3_ENST00000553215.1_Missense_Mutation_p.G4E|EGLN3_ENST00000250457.3_Missense_Mutation_p.G4E	p.G4E			Q9H6Z9	EGLN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	1	339	-	Breast(36;0.0303)|Hepatocellular(127;0.133)		4					Q2TA79|Q3B8N4|Q6P1R2	Missense_Mutation	SNP	ENST00000250457.3	37	c.11G>A	CCDS9646.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145567	0.37923	.	.	ENSG00000129521	ENST00000250457;ENST00000539567;ENST00000553215;ENST00000547327	T;T;D	0.85702	-1.22;-0.54;-2.02	5.7	3.86	0.44501	.	0.275136	0.41294	N	0.000908	T	0.70325	0.3211	L	0.31752	0.955	0.34775	D	0.734175	B;B;B	0.18166	0.026;0.0;0.0	B;B;B	0.18561	0.022;0.002;0.001	T	0.61544	-0.7041	10	0.02654	T	1	0.0036	6.2597	0.20893	0.1389:0.6571:0.1337:0.0702	.	4;4;4	F8VR39;Q9H6Z9;F8W1G2	.;EGLN3_HUMAN;.	E	4	ENSP00000250457:G4E;ENSP00000447470:G4E;ENSP00000446572:G4E	ENSP00000250457:G4E	G	-	2	0	EGLN3	33489699	0.171000	0.23029	0.998000	0.56505	0.994000	0.84299	0.671000	0.25172	0.731000	0.32448	0.655000	0.94253	GGA		0.627	EGLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276647.1			35	74	0	0	0	1	0	35	74				
PPP1CB	5500	broad.mit.edu	37	2	29006792	29006792	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:29006792A>G	ENST00000395366.2	+	5	812	c.540A>G	c.(538-540)caA>caG	p.Q180Q	PPP1CB_ENST00000296122.6_Silent_p.Q180Q|PPP1CB_ENST00000358506.2_Silent_p.Q180Q|SPDYA_ENST00000462832.1_3'UTR	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	180					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAGACCTGCAATCTATGGAGC	0.318																																						ENST00000395366.2																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9						c.(538-540)caA>caG		protein phosphatase 1, catalytic subunit, beta isozyme							122.0	128.0	126.0					2																	29006792		2203	4300	6503	SO:0001819	synonymous_variant	5500				cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding	g.chr2:29006792A>G		CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.540A>G	2.37:g.29006792A>G						SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000296122.6_Silent_p.Q180Q|PPP1CB_ENST00000358506.2_Silent_p.Q180Q	p.Q180Q	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN			5	812	+	Acute lymphoblastic leukemia(172;0.155)		180					B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Silent	SNP	ENST00000395366.2	37	c.540A>G	CCDS33169.1																																																																																				0.318	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324841.1			11	14	0	0	0	1	0	11	14				
RBM18	92400	broad.mit.edu	37	9	125004299	125004299	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr9:125004299A>G	ENST00000417201.3	-	6	577	c.437T>C	c.(436-438)aTt>aCt	p.I146T	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	146							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						TTTTGCTTCAATGGCTTTTAT	0.413																																						ENST00000417201.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						c.(436-438)aTt>aCt		RNA binding motif protein 18							86.0	80.0	82.0					9																	125004299		2203	4300	6503	SO:0001583	missense	92400						nucleotide binding|RNA binding	g.chr9:125004299A>G	AK057676	CCDS6839.1	9q34.11	2013-02-12			ENSG00000119446	ENSG00000119446		"""RNA binding motif (RRM) containing"""	28413	protein-coding gene	gene with protein product						12477932	Standard	NM_033117		Approved	MGC2734	uc004bma.2	Q96H35	OTTHUMG00000020602	ENST00000417201.3:c.437T>C	9.37:g.125004299A>G	ENSP00000409315:p.Ile146Thr					RBM18_ENST00000483428.1_5'UTR	p.I146T	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN			6	577	-			146					B3KQ89	Missense_Mutation	SNP	ENST00000417201.3	37	c.437T>C	CCDS6839.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873401	0.72180	.	.	ENSG00000119446	ENST00000417201	T	0.15718	2.4	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.68593	2.085	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.16247	-1.0409	10	0.59425	D	0.04	-16.4062	14.8349	0.70175	1.0:0.0:0.0:0.0	.	146	Q96H35	RBM18_HUMAN	T	146	ENSP00000409315:I146T	ENSP00000409315:I146T	I	-	2	0	RBM18	124044120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.421000	0.90259	2.102000	0.63906	0.402000	0.26972	ATT		0.413	RBM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053928.2	NM_033117		11	6	0	0	0	1	0	11	6				
USH2A	7399	broad.mit.edu	37	1	215848509	215848509	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:215848509A>G	ENST00000307340.3	-	63	13130	c.12744T>C	c.(12742-12744)caT>caC	p.H4248H	USH2A_ENST00000366943.2_Silent_p.H4248H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4248	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCTACAGGTATGCCCAGCTG	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(12742-12744)caT>caC		Usher syndrome 2A (autosomal recessive, mild)							92.0	87.0	89.0					1																	215848509		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848509A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12744T>C	1.37:g.215848509A>G		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.H4248H	p.H4248H			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13130	-			4248			Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.12744T>C	CCDS31025.1																																																																																				0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	16	0	0	0	1	0	12	16				
ADAMTS10	81794	broad.mit.edu	37	19	8657003	8657003	+	Intron	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:8657003C>A	ENST00000597188.1	-	14	1858				ADAMTS10_ENST00000270328.4_Intron|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.C15F	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10							extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGGGGGGAGACAGGAAGGAGT	0.677																																						ENST00000595838.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(43-45)tGt>tTt		ADAM metallopeptidase with thrombospondin type 1 motif, 10							24.0	26.0	25.0					19																	8657003		2185	4271	6456	SO:0001627	intron_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8657003C>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1588-16G>T	19.37:g.8657003C>A						ADAMTS10_ENST00000270328.4_Intron|ADAMTS10_ENST00000597188.1_Intron	p.C15F			Q9H324	ATS10_HUMAN			1	77	-			931					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.44G>T	CCDS12206.1																																																																																				0.677	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		11	34	1	0	1.58986e-06	1	1.98733e-06	11	34				
SULT1C2	6819	broad.mit.edu	37	2	108910170	108910170	+	Missense_Mutation	SNP	T	T	A	rs184514994	byFrequency	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:108910170T>A	ENST00000437390.2	+	2	224	c.47T>A	c.(46-48)gTg>gAg	p.V16E	SULT1C2_ENST00000409880.1_Missense_Mutation_p.V16E|SULT1C2_ENST00000326853.5_Missense_Mutation_p.V16E|SULT1C2_ENST00000492554.1_3'UTR|SULT1C2_ENST00000251481.6_Missense_Mutation_p.V16E			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	22					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CTGAAAGAGGTGGAGGGGACC	0.512																																						ENST00000326853.5																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(46-48)gTg>gAg		sulfotransferase family, cytosolic, 1C, member 2							75.0	70.0	72.0					2																	108910170		2203	4300	6503	SO:0001583	missense	6819				3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity	g.chr2:108910170T>A	U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.47T>A	2.37:g.108910170T>A	ENSP00000399651:p.Val16Glu					SULT1C2_ENST00000409880.1_Missense_Mutation_p.V16E|SULT1C2_ENST00000437390.2_Missense_Mutation_p.V16E|SULT1C2_ENST00000251481.6_Missense_Mutation_p.V16E|SULT1C2_ENST00000492554.1_3'UTR	p.V16E	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN			2	500	+			16					Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	ENST00000437390.2	37	c.47T>A		.	.	.	.	.	.	.	.	.	.	T	15.87	2.960247	0.53400	.	.	ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000438339;ENST00000409880;ENST00000437390	T;T;T;T;T	0.01887	4.58;4.58;4.58;4.58;4.58	4.98	4.98	0.66077	.	0.130542	0.34580	N	0.003848	T	0.04318	0.0119	N	0.08118	0	0.44055	D	0.996799	D;D;D	0.63880	0.978;0.961;0.993	D;D;D	0.70227	0.929;0.929;0.968	T	0.60727	-0.7206	10	0.66056	D	0.02	.	12.6103	0.56547	0.0:0.0:0.0:1.0	.	16;16;16	B4DLP0;O00338;O00338-2	.;ST1C2_HUMAN;.	E	16	ENSP00000251481:V16E;ENSP00000319622:V16E;ENSP00000401996:V16E;ENSP00000387054:V16E;ENSP00000399651:V16E	ENSP00000251481:V16E	V	+	2	0	SULT1C2	108276602	1.000000	0.71417	0.614000	0.29051	0.226000	0.24999	4.552000	0.60747	1.863000	0.54032	0.459000	0.35465	GTG		0.512	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2	NM_176825		11	23	0	0	0	1	0	11	23				
ZNF667	63934	broad.mit.edu	37	19	56973706	56973706	+	Splice_Site	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:56973706C>G	ENST00000504904.3	-	4	753		c.e4+1		ZNF667_ENST00000292069.6_Splice_Site|ZNF667_ENST00000591790.1_Splice_Site|ZNF667_ENST00000342634.3_Splice_Site			Q5HYK9	ZN667_HUMAN	zinc finger protein 667						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(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTGCCACTTACCTTGGATTTG	0.537																																						ENST00000591790.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.e2+1		zinc finger protein 667							251.0	203.0	220.0					19																	56973706		2203	4300	6503	SO:0001630	splice_region_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56973706C>G		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.33+1G>C	19.37:g.56973706C>G						ZNF667_ENST00000504904.3_Splice_Site|ZNF667_ENST00000342634.3_Splice_Site|ZNF667_ENST00000292069.6_Splice_Site				Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	2	1462	-		Colorectal(82;0.000256)|Ovarian(87;0.243)						B2RMS6|B9EK36|Q6B093|Q9H807	Splice_Site	SNP	ENST00000504904.3	37		CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	9.899	1.206378	0.22205	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7801	0.57472	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF667	61665518	0.994000	0.37717	0.928000	0.36995	0.175000	0.22909	3.064000	0.49986	2.295000	0.77249	0.467000	0.42956	.		0.537	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	Intron	22	78	0	0	0	1	0	22	78				
GPR26	2849	broad.mit.edu	37	10	125426259	125426259	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:125426259G>A	ENST00000284674.1	+	1	389	c.336G>A	c.(334-336)ctG>ctA	p.L112L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	112					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TCTTCCCGCTGAGCTACCGGG	0.701																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(334-336)ctG>ctA		G protein-coupled receptor 26							10.0	11.0	10.0					10																	125426259		2191	4282	6473	SO:0001819	synonymous_variant	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426259G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.336G>A	10.37:g.125426259G>A							p.L112L	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	389	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	112					Q2M2E2	Silent	SNP	ENST00000284674.1	37	c.336G>A	CCDS7636.1																																																																																				0.701	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			10	17	0	0	0	1	0	10	17				
WDR91	29062	broad.mit.edu	37	7	134878065	134878065	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:134878065G>A	ENST00000354475.4	-	11	1608	c.1577C>T	c.(1576-1578)tCa>tTa	p.S526L	WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000344400.5_Missense_Mutation_p.S526L|WDR91_ENST00000423565.1_Missense_Mutation_p.S491L	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	526										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTCTGGTGCTGAGAAGTCCAC	0.602																																						ENST00000354475.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1576-1578)tCa>tTa		WD repeat domain 91							66.0	60.0	62.0					7																	134878065		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134878065G>A	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1577C>T	7.37:g.134878065G>A	ENSP00000346466:p.Ser526Leu					WDR91_ENST00000423565.1_Missense_Mutation_p.S491L|WDR91_ENST00000344400.5_Missense_Mutation_p.S526L	p.S526L	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN			11	1608	-			526					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.1577C>T	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256727	0.39896	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.68025	1.37;-0.3;0.3	5.66	-0.232	0.13082	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.858030	0.10559	N	0.660483	T	0.54287	0.1849	L	0.36672	1.1	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.43261	-0.9402	10	0.49607	T	0.09	-12.9296	10.1419	0.42740	0.3861:0.0:0.6139:0.0	.	526	A4D1P6	WDR91_HUMAN	L	526;526;491	ENSP00000340877:S526L;ENSP00000346466:S526L;ENSP00000392555:S491L	ENSP00000340877:S526L	S	-	2	0	WDR91	134528605	0.045000	0.20229	0.000000	0.03702	0.764000	0.43329	1.507000	0.35758	-0.362000	0.08113	-0.150000	0.13652	TCA		0.602	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		16	41	0	0	0	1	0	16	41				
TGM6	343641	broad.mit.edu	37	20	2377207	2377207	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:2377207C>A	ENST00000202625.2	+	4	541	c.480C>A	c.(478-480)gaC>gaA	p.D160E	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.D160E	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	160					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TGCTCAGCGACAGCGGCATCA	0.612																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(478-480)gaC>gaA		transglutaminase 6	L-Glutamine(DB00130)						95.0	84.0	88.0					20																	2377207		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2377207C>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.480C>A	20.37:g.2377207C>A	ENSP00000202625:p.Asp160Glu					TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Missense_Mutation_p.D160E	p.D160E	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			4	541	+			160					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.480C>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775579	0.70107	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	D;D	0.91996	-2.95;-2.95	5.08	5.08	0.68730	.	0.049410	0.85682	D	0.000000	D	0.87708	0.6245	N	0.20986	0.625	0.35683	D	0.814192	P;P	0.46578	0.88;0.809	P;B	0.44394	0.448;0.174	D	0.89512	0.3772	10	0.31617	T	0.26	-44.5972	16.0034	0.80327	0.0:1.0:0.0:0.0	.	160;160	O95932-2;O95932	.;TGM3L_HUMAN	E	160	ENSP00000202625:D160E;ENSP00000370831:D160E	ENSP00000202625:D160E	D	+	3	2	TGM6	2325207	0.000000	0.05858	1.000000	0.80357	0.973000	0.67179	-0.788000	0.04614	2.649000	0.89929	0.655000	0.94253	GAC		0.612	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		9	30	1	0	0.335167	1	0.338733	9	30				
CFAP46	54777	broad.mit.edu	37	10	134671183	134671183	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:134671183T>C	ENST00000368586.5	-	39	5585	c.5485A>G	c.(5485-5487)Atc>Gtc	p.I1829V	TTC40_ENST00000263170.5_5'UTR	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AAGCCCTGGATGCTGTGAAGC	0.552																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(5485-5487)Atc>Gtc		tetratricopeptide repeat domain 40							102.0	71.0	82.0					10																	134671183		2202	4300	6502	SO:0001583	missense	54777							g.chr10:134671183T>C																												ENST00000368586.5:c.5485A>G	10.37:g.134671183T>C	ENSP00000357575:p.Ile1829Val					TTC40_ENST00000263170.5_5'UTR	p.I1829V	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			39	5585	-			494						Missense_Mutation	SNP	ENST00000368586.5	37	c.5485A>G	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	T	5.390	0.257132	0.10239	.	.	ENSG00000171811	ENST00000368586	T	0.09911	2.93	2.96	-3.47	0.04753	.	.	.	.	.	T	0.02193	0.0068	N	0.02011	-0.69	0.09310	N	1	.	.	.	.	.	.	T	0.39440	-0.9614	7	0.02654	T	1	.	0.3151	0.00294	0.216:0.1671:0.195:0.4219	.	.	.	.	V	1829	ENSP00000357575:I1829V	ENSP00000357575:I1829V	I	-	1	0	C10orf93	134521173	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.006000	0.12833	-0.805000	0.04404	0.391000	0.25812	ATC		0.552	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			3	10	0	0	0	1	0	3	10				
MAF1	84232	broad.mit.edu	37	8	145161460	145161460	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:145161460A>G	ENST00000322428.5	+	6	907	c.503A>G	c.(502-504)tAt>tGt	p.Y168C	KIAA1875_ENST00000323662.8_5'Flank|MAF1_ENST00000534585.1_Missense_Mutation_p.Y198C|SHARPIN_ENST00000398712.2_5'Flank|SHARPIN_ENST00000533948.1_5'Flank|MAF1_ENST00000532522.1_Missense_Mutation_p.Y168C	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	168					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCCCAGCTATAACCCAGAC	0.562																																						ENST00000534585.1																			0				central_nervous_system(1)|lung(8)|urinary_tract(1)	10						c.(592-594)tAt>tGt		MAF1 homolog (S. cerevisiae)							131.0	112.0	119.0					8																	145161460		2203	4300	6503	SO:0001583	missense	84232				negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus		g.chr8:145161460A>G		CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.503A>G	8.37:g.145161460A>G	ENSP00000318604:p.Tyr168Cys					MAF1_ENST00000322428.5_Missense_Mutation_p.Y168C|MAF1_ENST00000532522.1_Missense_Mutation_p.Y168C	p.Y198C			Q9H063	MAF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	984	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		168					D3DWL4	Missense_Mutation	SNP	ENST00000322428.5	37	c.593A>G	CCDS6416.1	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694277	0.68386	.	.	ENSG00000179632	ENST00000322428;ENST00000534585;ENST00000532522;ENST00000527058	T;T;T	0.67865	-0.29;-0.23;-0.29	5.47	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.85435	0.5696	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86234	0.1639	10	0.87932	D	0	-28.1674	8.431	0.32757	0.826:0.0:0.0:0.174	.	168	Q9H063	MAF1_HUMAN	C	168;198;168;198	ENSP00000318604:Y168C;ENSP00000433979:Y198C;ENSP00000436720:Y168C	ENSP00000318604:Y168C	Y	+	2	0	MAF1	145233448	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.603000	0.74145	0.865000	0.35603	0.533000	0.62120	TAT		0.562	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382910.1	NM_032272		11	36	0	0	0	1	0	11	36				
LPHN2	23266	broad.mit.edu	37	1	82433865	82433865	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:82433865G>T	ENST00000370728.1	+	16	3138	c.2493G>T	c.(2491-2493)atG>atT	p.M831I	LPHN2_ENST00000370717.2_Missense_Mutation_p.M831I|LPHN2_ENST00000370727.1_Missense_Mutation_p.M831I|LPHN2_ENST00000271029.4_Missense_Mutation_p.M831I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.M818I|LPHN2_ENST00000370725.1_Missense_Mutation_p.M831I|LPHN2_ENST00000370721.1_Missense_Mutation_p.M756I|LPHN2_ENST00000359929.3_Missense_Mutation_p.M818I|LPHN2_ENST00000370723.1_Missense_Mutation_p.M818I|LPHN2_ENST00000319517.6_Missense_Mutation_p.M818I|LPHN2_ENST00000335786.5_Missense_Mutation_p.M831I|LPHN2_ENST00000370713.1_Missense_Mutation_p.M818I|LPHN2_ENST00000370730.1_Missense_Mutation_p.M831I|LPHN2_ENST00000394879.1_Missense_Mutation_p.M818I			O95490	LPHN2_HUMAN	latrophilin 2	831	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAATTCTCATGGCCCACAGGG	0.423																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2491-2493)atG>atT		latrophilin 2							104.0	103.0	104.0					1																	82433865		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82433865G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2493G>T	1.37:g.82433865G>T	ENSP00000359763:p.Met831Ile					LPHN2_ENST00000370725.1_Missense_Mutation_p.M831I|LPHN2_ENST00000370715.1_Missense_Mutation_p.M818I|LPHN2_ENST00000271029.4_Missense_Mutation_p.M831I|LPHN2_ENST00000370713.1_Missense_Mutation_p.M818I|LPHN2_ENST00000359929.3_Missense_Mutation_p.M818I|LPHN2_ENST00000319517.6_Missense_Mutation_p.M818I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.M831I|LPHN2_ENST00000370721.1_Missense_Mutation_p.M756I|LPHN2_ENST00000370717.2_Missense_Mutation_p.M831I|LPHN2_ENST00000394879.1_Missense_Mutation_p.M818I|LPHN2_ENST00000370723.1_Missense_Mutation_p.M818I|LPHN2_ENST00000370730.1_Missense_Mutation_p.M831I|LPHN2_ENST00000370727.1_Missense_Mutation_p.M831I	p.M831I			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	16	3138	+			831			GPS.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2493G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.421085|4.421085	0.83559|0.83559	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.72051|.	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81307|0.81307	0.4795|0.4795	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.988;0.999|.	D;D;D|.	0.85130|.	0.997;0.981;0.997|.	T|T	0.83324|0.83324	-0.0016|-0.0016	10|5	0.87932|.	D|.	0|.	.|.	19.1903|19.1903	0.93663|0.93663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	818;818;818|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	I|L	756;831;831;831;831;818;818;818;818;818;831;818;831;831|699	ENSP00000359756:M756I;ENSP00000359763:M831I;ENSP00000359765:M831I;ENSP00000359762:M831I;ENSP00000359760:M831I;ENSP00000359758:M818I;ENSP00000353006:M818I;ENSP00000359750:M818I;ENSP00000359748:M818I;ENSP00000322270:M818I;ENSP00000359752:M831I;ENSP00000378344:M818I;ENSP00000271029:M831I;ENSP00000337306:M831I|.	ENSP00000271029:M831I|.	M|W	+|+	3|2	0|0	LPHN2|LPHN2	82206453|82206453	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.528000|2.528000	0.85240|0.85240	0.585000|0.585000	0.79938|0.79938	ATG|TGG		0.423	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		15	30	1	0	7.81268e-19	1	1.22476e-18	15	30				
SYNE1	23345	broad.mit.edu	37	6	152763221	152763221	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:152763221G>T	ENST00000367255.5	-	31	4598	c.3997C>A	c.(3997-3999)Cgc>Agc	p.R1333S	SYNE1_ENST00000341594.5_Missense_Mutation_p.R1399S|SYNE1_ENST00000413186.2_Missense_Mutation_p.R1333S|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1333S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1340S|SYNE1_ENST00000367248.3_Missense_Mutation_p.R1323S|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1333S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1340S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1333					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGATGCGGCGTTCCTGCCTC	0.622										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(3997-3999)Cgc>Agc		spectrin repeat containing, nuclear envelope 1							60.0	62.0	61.0					6																	152763221		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152763221G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3997C>A	6.37:g.152763221G>T	ENSP00000356224:p.Arg1333Ser	HNSCC(10;0.0054)				SYNE1_ENST00000413186.2_Missense_Mutation_p.R1333S|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1333S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1340S|SYNE1_ENST00000367248.3_Missense_Mutation_p.R1323S|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1333S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1399S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1340S	p.R1333S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	31	4598	-		Ovarian(120;0.0955)	1333					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3997C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993947	0.54041	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87887	0.65;0.66;0.56;0.66;0.77;-2.13;-2.3;-2.31	5.19	5.19	0.71726	.	0.235457	0.30584	N	0.009308	T	0.77651	0.4162	L	0.51422	1.61	0.80722	D	1	P;P;P;P;P;P	0.43431	0.76;0.708;0.702;0.807;0.708;0.807	B;B;B;B;B;B	0.40782	0.127;0.137;0.184;0.34;0.137;0.184	T	0.76642	-0.2884	10	0.23891	T	0.37	.	13.7642	0.62983	0.0:0.2779:0.7221:0.0	.	1316;1333;1323;1333;1333;1340	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	S	1333;1340;1333;1340;1399;1333;1323;1333	ENSP00000356224:R1333S;ENSP00000396024:R1340S;ENSP00000265368:R1333S;ENSP00000390975:R1340S;ENSP00000341887:R1399S;ENSP00000356222:R1333S;ENSP00000356217:R1323S;ENSP00000414510:R1333S	ENSP00000265368:R1333S	R	-	1	0	SYNE1	152804914	0.998000	0.40836	0.996000	0.52242	0.949000	0.60115	2.821000	0.48065	2.576000	0.86940	0.650000	0.86243	CGC		0.622	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		30	79	1	0	5.60225e-13	1	8.34191e-13	30	79				
DPH6	89978	broad.mit.edu	37	15	35834663	35834663	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:35834663A>G	ENST00000256538.4	-	2	95	c.69T>C	c.(67-69)gcT>gcC	p.A23A	DPH6_ENST00000440392.2_Silent_p.A23A	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6	23					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										TCTGATGCCCAGCAGCAATGC	0.398																																						ENST00000440392.2																			0											c.(67-69)gcT>gcC		diphthamine biosynthesis 6							165.0	153.0	157.0					15																	35834663		2201	4298	6499	SO:0001819	synonymous_variant	89978							g.chr15:35834663A>G		CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.69T>C	15.37:g.35834663A>G						DPH6_ENST00000256538.4_Silent_p.A23A	p.A23A	NM_001141972.1	NP_001135444.1					2	119	-								B3KWG1|Q96HJ6	Silent	SNP	ENST00000256538.4	37	c.69T>C	CCDS10043.1																																																																																				0.398	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251973.1	NM_080650		12	41	0	0	0	1	0	12	41				
PLXNA2	5362	broad.mit.edu	37	1	208212312	208212312	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:208212312G>C	ENST00000367033.3	-	25	5275	c.4518C>G	c.(4516-4518)aaC>aaG	p.N1506K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1506					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CGTTGTCAGGGTTGACGCAGT	0.488																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(4516-4518)aaC>aaG		plexin A2							140.0	121.0	127.0					1																	208212312		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208212312G>C	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4518C>G	1.37:g.208212312G>C	ENSP00000356000:p.Asn1506Lys						p.N1506K	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	25	5275	-			1506					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.4518C>G	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359838	0.61403	.	.	ENSG00000076356	ENST00000367033	T	0.00864	5.6	5.62	1.16	0.20824	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.042137	0.85682	D	0.000000	T	0.01353	0.0044	M	0.74258	2.255	0.80722	D	1	P	0.49447	0.924	B	0.41236	0.351	T	0.61466	-0.7057	10	0.07644	T	0.81	.	11.4839	0.50342	0.39:0.0:0.61:0.0	.	1506	O75051	PLXA2_HUMAN	K	1506	ENSP00000356000:N1506K	ENSP00000356000:N1506K	N	-	3	2	PLXNA2	206278935	1.000000	0.71417	0.932000	0.37286	0.807000	0.45602	2.627000	0.46469	0.336000	0.23639	0.650000	0.86243	AAC		0.488	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		13	31	0	0	0	1	0	13	31				
CFAP46	54777	broad.mit.edu	37	10	134751117	134751117	+	Missense_Mutation	SNP	G	G	A	rs536559191		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:134751117G>A	ENST00000368586.5	-	6	699	c.599C>T	c.(598-600)aCg>aTg	p.T200M	TTC40_ENST00000368585.3_Missense_Mutation_p.T200M|TTC40_ENST00000368582.2_Missense_Mutation_p.T200M	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGGAGCTGCCGTGGAGCAGAA	0.463																																						ENST00000368586.5																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.(598-600)aCg>aTg		tetratricopeptide repeat domain 40							85.0	89.0	88.0					10																	134751117		2203	4300	6503	SO:0001583	missense	54777							g.chr10:134751117G>A																												ENST00000368586.5:c.599C>T	10.37:g.134751117G>A	ENSP00000357575:p.Thr200Met					TTC40_ENST00000368582.2_Missense_Mutation_p.T200M|TTC40_ENST00000368585.3_Missense_Mutation_p.T200M	p.T200M	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN			6	699	-			0						Missense_Mutation	SNP	ENST00000368586.5	37	c.599C>T	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	4.325	0.059598	0.08339	.	.	ENSG00000171811	ENST00000368586;ENST00000368582;ENST00000368585	D;D;D	0.83250	-1.7;-1.7;-1.7	4.74	1.63	0.23807	.	0.445941	0.19668	N	0.108822	T	0.75953	0.3920	M	0.70595	2.14	0.09310	N	1	P;D	0.53151	0.889;0.958	B;B	0.37144	0.154;0.242	T	0.69087	-0.5238	10	0.59425	D	0.04	.	6.923	0.24399	0.1691:0.2377:0.5933:0.0	.	200;200	Q5SR76-2;Q5SR76-1	.;.	M	200	ENSP00000357575:T200M;ENSP00000357571:T200M;ENSP00000357574:T200M	ENSP00000357571:T200M	T	-	2	0	C10orf93	134601107	0.003000	0.15002	0.001000	0.08648	0.055000	0.15305	0.263000	0.18478	0.524000	0.28502	0.650000	0.86243	ACG		0.463	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3			24	41	0	0	0	1	0	24	41				
SLC5A12	159963	broad.mit.edu	37	11	26725436	26725436	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:26725436C>A	ENST00000396005.3	-	5	893	c.584G>T	c.(583-585)gGc>gTc	p.G195V	SLC5A12_ENST00000280467.6_Missense_Mutation_p.G195V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	195					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CGTTAAGAAGCCCACAATCAT	0.403																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(583-585)gGc>gTc		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							237.0	213.0	221.0					11																	26725436		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26725436C>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.584G>T	11.37:g.26725436C>A	ENSP00000379326:p.Gly195Val					SLC5A12_ENST00000280467.6_Missense_Mutation_p.G195V	p.G195V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			5	893	-			195					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.584G>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674836	0.88445	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.92858	-3.12;-3.12;-3.12	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97496	1.0057	10	0.87932	D	0	.	18.6369	0.91382	0.0:1.0:0.0:0.0	.	195;195	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	V	195;195;7	ENSP00000379326:G195V;ENSP00000280467:G195V;ENSP00000435053:G7V	ENSP00000280467:G195V	G	-	2	0	SLC5A12	26682012	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.624000	0.83124	2.412000	0.81896	0.484000	0.47621	GGC		0.403	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		26	60	1	0	7.92952e-12	1	1.14833e-11	26	60				
CSMD3	114788	broad.mit.edu	37	8	113529455	113529455	+	Splice_Site	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:113529455C>T	ENST00000297405.5	-	28	4809		c.e28-1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							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						GCAACAGAACCTATCAAAAGA	0.388										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.e28-1		CUB and Sushi multiple domains 3							38.0	35.0	36.0					8																	113529455		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113529455C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4565-1G>A	8.37:g.113529455C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site		NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			28	4809	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37		CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357139	0.82243	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5002	0.87728	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113598631	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	7.246000	0.78247	2.339000	0.79563	0.585000	0.79938	.		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	4	14	0	0	0	1	0	4	14				
ATP13A4	84239	broad.mit.edu	37	3	193171956	193171956	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:193171956C>A	ENST00000342695.4	-	17	2283	c.1961G>T	c.(1960-1962)gGc>gTc	p.G654V	ATP13A4_ENST00000392443.3_Missense_Mutation_p.G635V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	654						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GACTCGGAAGCCCTGTGTCGT	0.438																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(1960-1962)gGc>gTc		ATPase type 13A4							147.0	125.0	132.0					3																	193171956		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193171956C>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1961G>T	3.37:g.193171956C>A	ENSP00000339182:p.Gly654Val					ATP13A4_ENST00000392443.3_Missense_Mutation_p.G635V	p.G654V	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	17	2283	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		654					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.1961G>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689657	0.88735	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.80566	-1.39;-1.39	6.17	6.17	0.99709	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.074652	0.56097	D	0.000030	D	0.94876	0.8344	H	0.99545	4.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.997	D	0.96531	0.9393	10	0.87932	D	0	-20.9765	18.3732	0.90420	0.0:1.0:0.0:0.0	.	635;654;654	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	V	635;654	ENSP00000376238:G635V;ENSP00000339182:G654V	ENSP00000339182:G654V	G	-	2	0	ATP13A4	194654650	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.617000	0.67716	2.941000	0.99782	0.655000	0.94253	GGC		0.438	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		17	13	1	0	1.28384e-07	1	1.65713e-07	17	13				
BARX2	8538	broad.mit.edu	37	11	129245990	129245990	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:129245990G>A	ENST00000281437.4	+	1	156	c.60G>A	c.(58-60)cgG>cgA	p.R20R		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	20					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CAGCCAGGCGGCGCTACAAGA	0.647											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000281437.4																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(58-60)cgG>cgA		BARX homeobox 2							78.0	86.0	83.0					11																	129245990		2201	4297	6498	SO:0001819	synonymous_variant	8538							g.chr11:129245990G>A	AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.60G>A	11.37:g.129245990G>A			OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1571		p.R20R	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)	1	156	+	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	20					O43518|Q6NT51	Silent	SNP	ENST00000281437.4	37	c.60G>A	CCDS8481.1																																																																																				0.647	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386153.1	NM_003658		41	54	0	0	0	1	0	41	54				
SMG5	23381	broad.mit.edu	37	1	156222723	156222723	+	Silent	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:156222723G>A	ENST00000361813.5	-	18	2793	c.2649C>T	c.(2647-2649)atC>atT	p.I883I	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	883	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TCCTTGGGATGATGACAATGA	0.532																																						ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(2647-2649)atC>atT		SMG5 nonsense mediated mRNA decay factor							68.0	57.0	61.0					1																	156222723		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156222723G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2649C>T	1.37:g.156222723G>A						SMG5_ENST00000368267.4_Intron	p.I883I	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			18	2793	-	Hepatocellular(266;0.158)		883			PINc.		D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.2649C>T	CCDS1137.1	.	.	.	.	.	.	.	.	.	.	G	9.775	1.173626	0.21704	.	.	ENSG00000198952	ENST00000420555	.	.	.	5.83	2.93	0.34026	.	.	.	.	.	T	0.39358	0.1075	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	-15.6397	6.0383	0.19720	0.2217:0.1369:0.6414:0.0	.	.	.	.	Y	5	.	.	H	-	1	0	SMG5	154489347	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.185000	0.58330	0.368000	0.24481	0.561000	0.74099	CAT		0.532	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		9	10	0	0	0	1	0	9	10				
CEP112	201134	broad.mit.edu	37	17	64092398	64092398	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:64092398G>C	ENST00000392769.2	-	8	957	c.739C>G	c.(739-741)Cat>Gat	p.H247D	CEP112_ENST00000535342.2_Missense_Mutation_p.H247D|CEP112_ENST00000537949.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	247					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GAGAGAAAATGATCATCATGG	0.338																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(739-741)Cat>Gat		centrosomal protein 112kDa							123.0	113.0	117.0					17																	64092398		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:64092398G>C	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.739C>G	17.37:g.64092398G>C	ENSP00000376522:p.His247Asp					CEP112_ENST00000537949.1_Intron|CEP112_ENST00000535342.2_Missense_Mutation_p.H247D	p.H247D	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			8	957	-			247					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.739C>G	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955689	0.34471	.	.	ENSG00000154240	ENST00000535342;ENST00000392769	T;T	0.40756	1.02;1.02	5.87	5.87	0.94306	.	0.543723	0.18181	N	0.149140	T	0.32645	0.0836	N	0.22421	0.69	0.80722	D	1	B	0.21905	0.062	B	0.19391	0.025	T	0.05784	-1.0864	10	0.27785	T	0.31	-3.4073	16.9339	0.86198	0.0:0.0:1.0:0.0	.	247	Q8N8E3	CE112_HUMAN	D	247	ENSP00000442784:H247D;ENSP00000376522:H247D	ENSP00000376522:H247D	H	-	1	0	CEP112	61522860	0.994000	0.37717	0.995000	0.50966	0.472000	0.32918	5.254000	0.65457	2.785000	0.95823	0.591000	0.81541	CAT		0.338	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		11	23	0	0	0	1	0	11	23				
GABRG3	2567	broad.mit.edu	37	15	27725977	27725977	+	Intron	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:27725977G>T	ENST00000333743.6	+	6	966				RP11-100M12.3_ENST00000556642.1_RNA|GABRG3_ENST00000555083.1_Missense_Mutation_p.E252D	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGCCAGAGAGGCCTAAGGCC	0.413																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000555083.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(754-756)gaG>gaT		gamma-aminobutyric acid (GABA) A receptor, gamma 3							27.0	28.0	28.0					15																	27725977		1891	4134	6025	SO:0001627	intron_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27725977G>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.712+44G>T	15.37:g.27725977G>T						GABRG3_ENST00000333743.6_Intron	p.E252D	NM_001270873.1	NP_001257802.1	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	6	899	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	0					G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.756G>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545611	0.27652	.	.	ENSG00000182256	ENST00000555083	T	0.52754	0.65	3.79	0.46	0.16684	.	.	.	.	.	T	0.24005	0.0581	.	.	.	0.09310	N	1	B	0.23591	0.088	B	0.15484	0.013	T	0.15896	-1.0421	7	.	.	.	.	1.0423	0.01562	0.2115:0.1453:0.4236:0.2197	.	252	G3V594	.	D	252	ENSP00000452244:E252D	.	E	+	3	2	GABRG3	25399572	0.000000	0.05858	0.012000	0.15200	0.081000	0.17604	-0.840000	0.04363	-0.017000	0.14103	0.508000	0.49915	GAG		0.413	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			4	8	1	0	0.00909568	1	0.00966543	4	8				
NAA25	80018	broad.mit.edu	37	12	112481547	112481547	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:112481547T>A	ENST00000261745.4	-	18	2380	c.2132A>T	c.(2131-2133)aAc>aTc	p.N711I		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	711						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTTCTCCGAGTTCTTTGGCTC	0.493																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(2131-2133)aAc>aTc		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							88.0	91.0	90.0					12																	112481547		2203	4300	6503	SO:0001583	missense	80018					cytoplasm	protein binding	g.chr12:112481547T>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.2132A>T	12.37:g.112481547T>A	ENSP00000261745:p.Asn711Ile						p.N711I	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			18	2380	-			711					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	ENST00000261745.4	37	c.2132A>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.042216	0.93685	.	.	ENSG00000111300	ENST00000261745	T	0.29397	1.57	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.991;0.994	T	0.25950	-1.0117	10	0.36615	T	0.2	-15.9457	16.1415	0.81528	0.0:0.0:0.0:1.0	.	711;711	A8K8X0;Q14CX7	.;NAA25_HUMAN	I	711	ENSP00000261745:N711I	ENSP00000261745:N711I	N	-	2	0	NAA25	110965930	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.585000	0.82584	2.198000	0.70561	0.533000	0.62120	AAC		0.493	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		16	49	0	0	0	1	0	16	49				
TLR10	81793	broad.mit.edu	37	4	38776141	38776141	+	Silent	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:38776141A>G	ENST00000308973.4	-	4	1676	c.1071T>C	c.(1069-1071)aaT>aaC	p.N357N	TLR10_ENST00000508334.1_Silent_p.N357N|TLR10_ENST00000506111.1_Silent_p.N357N|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Silent_p.N357N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	357					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTAAGATATTATTGGCAAAAT	0.333																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(1069-1071)aaT>aaC		toll-like receptor 10							77.0	82.0	80.0					4																	38776141		2203	4300	6503	SO:0001819	synonymous_variant	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776141A>G	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1071T>C	4.37:g.38776141A>G						TLR10_ENST00000508334.1_Silent_p.N357N|TLR10_ENST00000361424.2_Silent_p.N357N|TLR10_ENST00000506111.1_Silent_p.N357N	p.N357N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	1676	-			357					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Silent	SNP	ENST00000308973.4	37	c.1071T>C	CCDS3445.1																																																																																				0.333	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			21	15	0	0	0	1	0	21	15				
CAPN6	827	broad.mit.edu	37	X	110496308	110496308	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chrX:110496308C>G	ENST00000324068.1	-	4	601	c.434G>C	c.(433-435)gGa>gCa	p.G145A	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	145	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GACCAGATCTCCGTTAATGGT	0.408																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(433-435)gGa>gCa		calpain 6							149.0	125.0	133.0					X																	110496308		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110496308C>G	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.434G>C	X.37:g.110496308C>G	ENSP00000317214:p.Gly145Ala					CAPN6_ENST00000541758.1_5'UTR	p.G145A	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			4	601	-			145			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.434G>C	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940510	0.73557	.	.	ENSG00000077274	ENST00000324068	T	0.54675	0.56	5.97	5.97	0.96955	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	H	0.94808	3.585	0.58432	D	0.999998	D	0.89917	1.0	D	0.85130	0.997	D	0.84859	0.0818	10	0.87932	D	0	.	13.5174	0.61549	0.0:0.9246:0.0:0.0754	.	145	Q9Y6Q1	CAN6_HUMAN	A	145	ENSP00000317214:G145A	ENSP00000317214:G145A	G	-	2	0	CAPN6	110382964	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.042000	0.57347	2.527000	0.85204	0.600000	0.82982	GGA		0.408	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			19	14	0	0	0	1	0	19	14				
FAM135B	51059	broad.mit.edu	37	8	139163784	139163784	+	Silent	SNP	A	A	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:139163784A>C	ENST00000395297.1	-	13	3104	c.2934T>G	c.(2932-2934)gcT>gcG	p.A978A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	978										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTTATGTTTAGCCTCCGGGA	0.498										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2932-2934)gcT>gcG		family with sequence similarity 135, member B							121.0	101.0	108.0					8																	139163784		2203	4300	6503	SO:0001819	synonymous_variant	51059							g.chr8:139163784A>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2934T>G	8.37:g.139163784A>C		HNSCC(54;0.14)					p.A978A	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3104	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		978					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.2934T>G	CCDS6375.2																																																																																				0.498	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		14	44	0	0	0	1	0	14	44				
CLSTN2	64084	broad.mit.edu	37	3	140178487	140178487	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:140178487C>A	ENST00000458420.3	+	7	1288	c.1098C>A	c.(1096-1098)gtC>gtA	p.V366V	RP11-68L1.2_ENST00000503357.1_RNA|RP11-68L1.1_ENST00000483759.2_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	366			V -> I (in dbSNP:rs7632885). {ECO:0000269|PubMed:12498782, ECO:0000269|PubMed:12972431, ECO:0000269|Ref.5}.		homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTGCCAAAGTCCCCGATGGGA	0.572										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(1096-1098)gtC>gtA		calsyntenin 2							82.0	69.0	74.0					3																	140178487		2203	4300	6503	SO:0001819	synonymous_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140178487C>A	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.1098C>A	3.37:g.140178487C>A		HNSCC(16;0.037)				RP11-68L1.2_ENST00000503357.1_RNA	p.V366V	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			7	1288	+			366		V -> I (in dbSNP:rs7632885).			B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Silent	SNP	ENST00000458420.3	37	c.1098C>A	CCDS3112.1																																																																																				0.572	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		7	51	1	0	0.0381472	1	0.0393912	7	51				
CCDC181	57821	broad.mit.edu	37	1	169390784	169390784	+	Silent	SNP	T	T	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:169390784T>G	ENST00000367806.3	-	3	1037	c.885A>C	c.(883-885)ccA>ccC	p.P295P	CCDC181_ENST00000545005.1_Silent_p.P295P|CCDC181_ENST00000367805.3_Silent_p.P295P|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	295						nucleus (GO:0005634)											TGCGGTTGAGTGGTGGCTGAG	0.483																																						ENST00000545005.1																			0											c.(883-885)ccA>ccC		coiled-coil domain containing 181							164.0	154.0	157.0					1																	169390784		2203	4300	6503	SO:0001819	synonymous_variant	57821							g.chr1:169390784T>G	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.885A>C	1.37:g.169390784T>G						CCDC181_ENST00000367806.3_Silent_p.P295P|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Silent_p.P295P	p.P295P							4	1392	-								O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37	c.885A>C																																																																																					0.483	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		32	55	0	0	0	1	0	32	55				
GNG13	51764	broad.mit.edu	37	16	848729	848729	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:848729G>A	ENST00000248150.4	-	3	295	c.194C>T	c.(193-195)aCc>aTc	p.T65I		NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN	guanine nucleotide binding protein (G protein), gamma 13	65					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|sensory perception of taste (GO:0050909)|small molecule metabolic process (GO:0044281)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)			ovary(1)	1		Hepatocellular(780;0.00335)				TCACAGGATGGTGCATTTGCC	0.622																																						ENST00000248150.4																			0				ovary(1)	1						c.(193-195)aCc>aTc		guanine nucleotide binding protein (G protein), gamma 13							147.0	154.0	152.0					16																	848729		2200	4300	6500	SO:0001583	missense	51764				cellular response to glucagon stimulus|energy reserve metabolic process		signal transducer activity	g.chr16:848729G>A	AB030207	CCDS10427.1	16p13.3	2008-08-01			ENSG00000127588	ENSG00000127588			14131	protein-coding gene	gene with protein product	"""G gamma subunit, clone:h2-35"""	607298				10570481	Standard	NM_016541		Approved	h2-35, G(gamma)13	uc002ckh.4	Q9P2W3	OTTHUMG00000047839	ENST00000248150.4:c.194C>T	16.37:g.848729G>A	ENSP00000248150:p.Thr65Ile						p.T65I	NM_016541.2	NP_057625.1	Q9P2W3	GBG13_HUMAN			3	295	-		Hepatocellular(780;0.00335)	65					B2R5C8|Q52LX0|Q9UJJ3	Missense_Mutation	SNP	ENST00000248150.4	37	c.194C>T	CCDS10427.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425754	0.25639	.	.	ENSG00000127588	ENST00000248150	T	0.23147	1.92	5.07	4.12	0.48240	G-protein gamma domain (3);	1.004080	0.08008	N	0.989923	T	0.15739	0.0379	.	.	.	0.26465	N	0.975383	B	0.02656	0.0	B	0.01281	0.0	T	0.31336	-0.9947	9	0.17832	T	0.49	-5.4613	7.5971	0.28054	0.0895:0.2749:0.6355:0.0	.	65	Q9P2W3	GBG13_HUMAN	I	65	ENSP00000248150:T65I	ENSP00000248150:T65I	T	-	2	0	GNG13	788730	0.772000	0.28567	0.620000	0.29132	0.744000	0.42396	1.205000	0.32308	1.133000	0.42147	0.561000	0.74099	ACC		0.622	GNG13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109062.3	NM_016541		63	228	0	0	0	1	0	63	228				
FRK	2444	broad.mit.edu	37	6	116263644	116263644	+	Missense_Mutation	SNP	C	C	A	rs141525046	byFrequency	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:116263644C>A	ENST00000606080.1	-	8	1897	c.1451G>T	c.(1450-1452)cGt>cTt	p.R484L	FRK_ENST00000538210.1_Missense_Mutation_p.R342L	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	484	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.R484L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AAGTTTCCAACGCAGTGTCTC	0.388																																						ENST00000606080.1																			1	Substitution - Missense(1)	p.R484L(1)	lung(1)	breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1450-1452)cGt>cTt		fyn-related kinase							137.0	132.0	134.0					6																	116263644		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116263644C>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1451G>T	6.37:g.116263644C>A	ENSP00000476145:p.Arg484Leu					FRK_ENST00000538210.1_Missense_Mutation_p.R342L	p.R484L	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	8	1897	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	484			Protein kinase.		B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1451G>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	c	7.765	0.706308	0.15239	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.26810	1.71;1.71	5.59	1.83	0.25207	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.644681	0.14692	N	0.304140	T	0.04227	0.0117	N	0.11255	0.115	0.24352	N	0.994911	B	0.02656	0.0	B	0.01281	0.0	T	0.38457	-0.9660	10	0.72032	D	0.01	.	6.2639	0.20915	0.1184:0.1318:0.0:0.7498	.	484	P42685	FRK_HUMAN	L	484;342	ENSP00000357615:R484L;ENSP00000443075:R342L	ENSP00000357615:R484L	R	-	2	0	FRK	116370337	0.905000	0.30787	0.114000	0.21550	0.181000	0.23173	1.393000	0.34497	0.074000	0.16767	-0.374000	0.07098	CGT		0.388	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		16	42	1	0	2.98522e-18	1	4.6644e-18	16	42				
UROC1	131669	broad.mit.edu	37	3	126219696	126219696	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:126219696C>T	ENST00000290868.2	-	11	1040	c.987G>A	c.(985-987)ttG>ttA	p.L329L	UROC1_ENST00000383579.3_Silent_p.L389L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	329					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCGTCGTGTCCAATTCGTGGA	0.642																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(985-987)ttG>ttA		urocanate hydratase 1							69.0	64.0	66.0					3																	126219696		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126219696C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.987G>A	3.37:g.126219696C>T						UROC1_ENST00000383579.3_Silent_p.L389L	p.L329L	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	11	1040	-			329					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.987G>A	CCDS3038.1																																																																																				0.642	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		19	30	0	0	0	1	0	19	30				
KCNN2	3781	broad.mit.edu	37	5	113829140	113829140	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:113829140C>A	ENST00000512097.3	+	8	2441	c.1423C>A	c.(1423-1425)Caa>Aaa	p.Q475K	RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Missense_Mutation_p.Q475K|KCNN2_ENST00000503706.1_Missense_Mutation_p.Q127K			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	475	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	ACTGAATGACCAAGCAAACAC	0.408																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1423-1425)Caa>Aaa		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2							103.0	98.0	100.0					5																	113829140		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113829140C>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1423C>A	5.37:g.113829140C>A	ENSP00000427120:p.Gln475Lys					KCNN2_ENST00000264773.3_Missense_Mutation_p.Q475K|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Missense_Mutation_p.Q127K	p.Q475K			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	8	2441	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	475			Calmodulin-binding (By similarity).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1423C>A	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573334	0.86542	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	D;D	0.98512	-4.97;-3.29	5.71	5.71	0.89125	Calmodulin-binding domain (2);	0.047433	0.85682	D	0.000000	D	0.96956	0.9006	L	0.46885	1.475	0.80722	D	1	P	0.36438	0.553	B	0.39531	0.302	D	0.96238	0.9173	10	0.32370	T	0.25	.	19.4873	0.95035	0.0:1.0:0.0:0.0	.	475	Q9H2S1	KCNN2_HUMAN	K	475;127	ENSP00000264773:Q475K;ENSP00000421439:Q127K	ENSP00000264773:Q475K	Q	+	1	0	KCNN2	113857039	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.395000	0.79876	2.712000	0.92718	0.650000	0.86243	CAA		0.408	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		4	17	1	0	0.014758	1	0.0154747	4	17				
TRIP12	9320	broad.mit.edu	37	2	230656690	230656690	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:230656690T>A	ENST00000283943.5	-	28	4260	c.4082A>T	c.(4081-4083)cAg>cTg	p.Q1361L	TRIP12_ENST00000389045.3_Missense_Mutation_p.Q1091L|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1409L	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1361					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCGTACTGCCTGATACACAGT	0.418																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4081-4083)cAg>cTg		thyroid hormone receptor interactor 12							164.0	158.0	160.0					2																	230656690		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230656690T>A	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4082A>T	2.37:g.230656690T>A	ENSP00000283943:p.Gln1361Leu					TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1409L|TRIP12_ENST00000389045.3_Missense_Mutation_p.Q1091L	p.Q1361L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	28	4260	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1361					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.4082A>T	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	33	5.212128	0.95069	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.66460	-0.19;0.27;-0.21	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.80188	0.4577	M	0.76328	2.33	0.80722	D	1	P;P;P	0.45126	0.851;0.851;0.851	P;P;P	0.58391	0.838;0.838;0.838	T	0.82275	-0.0538	10	0.87932	D	0	.	16.1254	0.81392	0.0:0.0:0.0:1.0	.	1091;1409;1361	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	L	1361;1091;1409	ENSP00000283943:Q1361L;ENSP00000373697:Q1091L;ENSP00000373696:Q1409L	ENSP00000283943:Q1361L	Q	-	2	0	TRIP12	230364934	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.656000	0.83736	2.195000	0.70347	0.528000	0.53228	CAG		0.418	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		22	44	0	0	0	1	0	22	44				
PCDH8	5100	broad.mit.edu	37	13	53421458	53421458	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr13:53421458C>A	ENST00000377942.3	-	1	1317	c.1114G>T	c.(1114-1116)Gct>Tct	p.A372S	PCDH8_ENST00000338862.4_Missense_Mutation_p.A372S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	372					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGGCGGCAGCGGCGAAGGGT	0.741																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(1114-1116)Gct>Tct		protocadherin 8							5.0	4.0	4.0					13																	53421458		1476	3040	4516	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53421458C>A	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1114G>T	13.37:g.53421458C>A	ENSP00000367177:p.Ala372Ser					PCDH8_ENST00000338862.4_Missense_Mutation_p.A372S	p.A372S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1317	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	372					B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.1114G>T	CCDS9438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.022|8.022	0.759781|0.759781	0.15846|0.15846	.|.	.|.	ENSG00000136099|ENSG00000136099	ENST00000377942;ENST00000338862|ENST00000448969	T;T|.	0.52526|.	0.68;0.66|.	4.14|4.14	3.26|3.26	0.37387|0.37387	.|.	0.362815|.	0.20134|.	N|.	0.098524|.	T|T	0.27098|0.27098	0.0664|0.0664	N|N	0.08118|0.08118	0|0	0.33150|0.33150	D|D	0.545606|0.545606	B;B|.	0.10296|.	0.001;0.003|.	B;B|.	0.15052|.	0.012;0.008|.	T|T	0.29971|0.29971	-0.9994|-0.9994	10|6	0.29301|0.14252	T|T	0.29|0.57	.|.	9.7774|9.7774	0.40628|0.40628	0.0:0.8997:0.0:0.1003|0.0:0.8997:0.0:0.1003	.|.	372;372|.	O95206-2;O95206|.	.;PCDH8_HUMAN|.	S|L	372|371	ENSP00000367177:A372S;ENSP00000341350:A372S|.	ENSP00000341350:A372S|ENSP00000399977:R371L	A|R	-|-	1|2	0|0	PCDH8|PCDH8	52319459|52319459	0.990000|0.990000	0.36364|0.36364	0.746000|0.746000	0.31095|0.31095	0.094000|0.094000	0.18550|0.18550	2.002000|2.002000	0.40835|0.40835	2.136000|2.136000	0.66102|0.66102	0.561000|0.561000	0.74099|0.74099	GCT|CGC		0.741	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		5	11	1	0	1.23904e-05	1	1.48248e-05	5	11				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			100294341							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	29	0	0	0	1	0	3	29				
ZNF296	162979	broad.mit.edu	37	19	45579617	45579617	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:45579617C>T	ENST00000303809.2	-	1	229	c.15G>A	c.(13-15)aaG>aaA	p.K5K	GEMIN7_ENST00000591607.1_5'Flank|CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000270257.4_5'Flank|GEMIN7_ENST00000391951.2_5'Flank|GEMIN7_ENST00000591747.1_5'Flank	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	5					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CGCTGCCGGCCTTGCGGCGGG	0.751																																						ENST00000303809.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						c.(13-15)aaG>aaA		zinc finger protein 296							12.0	14.0	13.0					19																	45579617		1881	3713	5594	SO:0001819	synonymous_variant	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45579617C>T	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.15G>A	19.37:g.45579617C>T							p.K5K	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN			1	229	-			5						Silent	SNP	ENST00000303809.2	37	c.15G>A	CCDS12653.1																																																																																				0.751	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		33	42	0	0	0	1	0	33	42				
AKAP6	9472	broad.mit.edu	37	14	33293497	33293497	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr14:33293497G>A	ENST00000280979.4	+	13	6648	c.6478G>A	c.(6478-6480)Gtt>Att	p.V2160I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2160					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGAGGCCTGTGTTGAGGGTGA	0.473																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(6478-6480)Gtt>Att		A kinase (PRKA) anchor protein 6							83.0	77.0	79.0					14																	33293497		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33293497G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6478G>A	14.37:g.33293497G>A	ENSP00000280979:p.Val2160Ile					AKAP6_ENST00000557272.1_Intron	p.V2160I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6648	+	Breast(36;0.0388)|Prostate(35;0.15)		2160					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.6478G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204331	0.38905	.	.	ENSG00000151320	ENST00000280979	T	0.51574	0.7	6.03	4.19	0.49359	.	0.642001	0.15393	N	0.264708	T	0.41143	0.1146	L	0.60455	1.87	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43327	-0.9398	10	0.56958	D	0.05	-6.6531	5.4312	0.16454	0.233:0.1975:0.5694:0.0	.	2160	Q13023	AKAP6_HUMAN	I	2160	ENSP00000280979:V2160I	ENSP00000280979:V2160I	V	+	1	0	AKAP6	32363248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.721000	0.38032	1.547000	0.49401	0.655000	0.94253	GTT		0.473	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		4	15	0	0	0	1	0	4	15				
TOR1AIP2	163590	broad.mit.edu	37	1	179820247	179820247	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:179820247C>T	ENST00000367612.3	-	4	673	c.286G>A	c.(286-288)Gat>Aat	p.D96N	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.D96N	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	41										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TTTCCGCCATCCAGAAAACTC	0.448																																						ENST00000367612.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(286-288)Gat>Aat		torsin A interacting protein 2							105.0	92.0	96.0					1																	179820247		2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179820247C>T		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.286G>A	1.37:g.179820247C>T	ENSP00000356584:p.Asp96Asn						p.D96N	NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN			4	673	-			96					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.286G>A	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.743473	0.49151	.	.	ENSG00000169905	ENST00000367612	T	0.25749	1.78	5.79	4.7	0.59300	.	0.896356	0.09471	N	0.797730	T	0.30603	0.0770	L	0.51422	1.61	0.09310	N	1	B	0.31459	0.324	B	0.39805	0.31	T	0.17137	-1.0379	10	0.29301	T	0.29	-4.4538	10.6102	0.45417	0.0:0.9002:0.0:0.0998	.	96	Q8NFQ8	TOIP2_HUMAN	N	96	ENSP00000356584:D96N	ENSP00000356584:D96N	D	-	1	0	TOR1AIP2	178086870	0.082000	0.21442	0.083000	0.20561	0.150000	0.21749	1.748000	0.38308	2.722000	0.93159	0.655000	0.94253	GAT		0.448	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		7	34	0	0	0	1	0	7	34				
PLA2G4A	5321	broad.mit.edu	37	1	186948481	186948481	+	Silent	SNP	C	C	T	rs149831494	byFrequency	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:186948481C>T	ENST00000367466.3	+	17	2147	c.1995C>T	c.(1993-1995)atC>atT	p.I665I	PLA2G4A_ENST00000442353.2_Silent_p.I605I	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	665	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	AGAAAGAAATCGCTGACTTTG	0.348													C|||	3	0.000599042	0.0015	0.0014	5008	,	,		18552	0.0		0.0	False		,,,				2504	0.0					ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1993-1995)atC>atT		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	C		7,4399	12.9+/-30.5	0,7,2196	99.0	97.0	98.0		1995	-1.8	1.0	1	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous	PLA2G4A	NM_024420.2		0,7,6496	TT,TC,CC		0.0,0.1589,0.0538		665/750	186948481	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186948481C>T	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1995C>T	1.37:g.186948481C>T						PLA2G4A_ENST00000442353.2_Silent_p.I605I	p.I665I	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			17	2147	+			665			PLA2c.		B1AKG4|Q29R80	Silent	SNP	ENST00000367466.3	37	c.1995C>T	CCDS1372.1																																																																																				0.348	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		8	22	0	0	0	1	0	8	22				
PDZRN3	23024	broad.mit.edu	37	3	73433317	73433317	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:73433317G>T	ENST00000263666.4	-	10	2514	c.2400C>A	c.(2398-2400)gcC>gcA	p.A800A	PDZRN3_ENST00000535920.1_Silent_p.A522A|PDZRN3_ENST00000462146.2_Silent_p.A457A|PDZRN3_ENST00000479530.1_Silent_p.A517A|PDZRN3_ENST00000466780.1_Silent_p.A457A|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	800					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGGCCCGTAGGCTTCCGTGG	0.652																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2398-2400)gcC>gcA		PDZ domain containing ring finger 3							47.0	51.0	49.0					3																	73433317		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433317G>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2400C>A	3.37:g.73433317G>T						PDZRN3_ENST00000466780.1_Silent_p.A457A|PDZRN3_ENST00000479530.1_Silent_p.A517A|PDZRN3_ENST00000462146.2_Silent_p.A457A|PDZRN3_ENST00000535920.1_Silent_p.A522A	p.A800A	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2514	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	800					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2400C>A	CCDS33789.1																																																																																				0.652	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		19	20	1	0	1.87028e-06	1	2.32561e-06	19	20				
FSHR	2492	broad.mit.edu	37	2	49381409	49381409	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:49381409C>G	ENST00000406846.2	-	1	267	c.148G>C	c.(148-150)Gaa>Caa	p.E50Q	FSHR_ENST00000304421.4_Missense_Mutation_p.E50Q|FSHR_ENST00000346173.3_Missense_Mutation_p.E50Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	50					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.E50K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	ACTCACAGTTCAATGGCATTC	0.453									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			1	Substitution - Missense(1)	p.E50K(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(148-150)Gaa>Caa		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						66.0	65.0	66.0					2																	49381409		2203	4300	6503	SO:0001583	missense	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49381409C>G		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.148G>C	2.37:g.49381409C>G	ENSP00000384708:p.Glu50Gln					FSHR_ENST00000304421.4_Missense_Mutation_p.E50Q|FSHR_ENST00000346173.3_Missense_Mutation_p.E50Q	p.E50Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	267	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	50					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.148G>C	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965119	0.34659	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.46	5.46	0.80206	Leucine-rich repeat-containing N-terminal (1);	0.143888	0.46442	D	0.000288	D	0.87974	0.6313	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.81914	0.99;0.995;0.995	D	0.86366	0.1720	9	.	.	.	.	14.6913	0.69087	0.0:1.0:0.0:0.0	.	50;50;50	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Q	50	ENSP00000384708:E50Q;ENSP00000333908:E50Q;ENSP00000306780:E50Q;ENSP00000415504:E50Q	.	E	-	1	0	FSHR	49234913	0.997000	0.39634	0.972000	0.41901	0.303000	0.27691	4.110000	0.57831	2.840000	0.97914	0.655000	0.94253	GAA		0.453	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			7	13	0	0	0	1	0	7	13				
TBC1D9	23158	broad.mit.edu	37	4	141543409	141543409	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:141543409C>A	ENST00000442267.2	-	21	3815	c.3741G>T	c.(3739-3741)cgG>cgT	p.R1247R		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1247							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCCCATCATCCGGATGTTTT	0.597																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3739-3741)cgG>cgT		TBC1 domain family, member 9 (with GRAM domain)							73.0	74.0	73.0					4																	141543409		1962	4156	6118	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543409C>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3741G>T	4.37:g.141543409C>A							p.R1247R	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3815	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1247					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.3741G>T	CCDS47136.1																																																																																				0.597	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		23	24	1	0	6.44725e-10	1	9.00719e-10	23	24				
CSMD2	114784	broad.mit.edu	37	1	34383835	34383835	+	Silent	SNP	C	C	A	rs548252791		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:34383835C>A	ENST00000373381.4	-	5	956	c.780G>T	c.(778-780)tcG>tcT	p.S260S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	220	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TATGGTACTCCGAGGGGAAGT	0.582																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(778-780)tcG>tcT		CUB and Sushi multiple domains 2							97.0	82.0	87.0					1																	34383835		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34383835C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.780G>T	1.37:g.34383835C>A							p.S260S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			5	956	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	220			CUB 2.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.780G>T																																																																																					0.582	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		7	26	1	0	1.26484e-09	1	1.73142e-09	7	26				
TM7SF2	7108	broad.mit.edu	37	11	64880758	64880758	+	Missense_Mutation	SNP	G	G	T	rs368139158		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:64880758G>T	ENST00000279263.7	+	4	533	c.371G>T	c.(370-372)gGg>gTg	p.G124V	TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000540748.1_Missense_Mutation_p.G8V|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000345348.5_Missense_Mutation_p.G124V	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	124					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGCCTCTGGGGGCGCTCCCG	0.642											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000279263.7																			0				lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(370-372)gGg>gTg		transmembrane 7 superfamily member 2							27.0	33.0	31.0					11																	64880758		2016	4159	6175	SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64880758G>T	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.371G>T	11.37:g.64880758G>T	ENSP00000279263:p.Gly124Val		OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	134	TM7SF2_ENST00000540748.1_Missense_Mutation_p.G8V|TM7SF2_ENST00000345348.5_Missense_Mutation_p.G124V|TM7SF2_ENST00000531029.1_3'UTR	p.G124V	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN			4	533	+			124					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	c.371G>T	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251485	0.22880	.	.	ENSG00000149809	ENST00000279263;ENST00000524986;ENST00000540748;ENST00000525385;ENST00000345348;ENST00000529414	D;D;D;D;D;D	0.97976	-4.57;-4.57;-4.64;-4.57;-4.57;-4.57	4.81	2.95	0.34219	.	0.480564	0.23155	N	0.051312	D	0.95245	0.8458	L	0.43152	1.355	0.80722	D	1	B;B;B	0.30973	0.21;0.248;0.302	B;B;B	0.39971	0.068;0.211;0.315	D	0.90043	0.4143	10	0.18276	T	0.48	-12.7632	7.5449	0.27761	0.1955:0.0:0.8045:0.0	.	8;124;124	F5GYV3;O76062-2;O76062	.;.;ERG24_HUMAN	V	124;95;8;95;124;124	ENSP00000279263:G124V;ENSP00000435972:G95V;ENSP00000441215:G8V;ENSP00000433325:G95V;ENSP00000329520:G124V;ENSP00000433275:G124V	ENSP00000279263:G124V	G	+	2	0	TM7SF2	64637334	0.951000	0.32395	0.325000	0.25375	0.682000	0.39822	2.098000	0.41757	0.639000	0.30564	0.561000	0.74099	GGG		0.642	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1	NM_003273		12	27	1	0	5.50884e-06	1	6.65826e-06	12	27				
HDC	3067	broad.mit.edu	37	15	50544696	50544696	+	Silent	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr15:50544696C>A	ENST00000267845.3	-	9	1374	c.972G>T	c.(970-972)ctG>ctT	p.L324L	HDC_ENST00000543581.1_Silent_p.L324L	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AGGTCTGCTGCAGCTTGTACT	0.602																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(970-972)ctG>ctT		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						206.0	164.0	178.0					15																	50544696		2196	4295	6491	SO:0001819	synonymous_variant	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50544696C>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.972G>T	15.37:g.50544696C>A						HDC_ENST00000543581.1_Silent_p.L324L	p.L324L	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	9	1374	-		all_lung(180;0.0138)	324						Silent	SNP	ENST00000267845.3	37	c.972G>T	CCDS10134.1																																																																																				0.602	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			24	55	1	0	3.08376e-08	1	4.04637e-08	24	55				
ITGB1	3688	broad.mit.edu	37	10	33196033	33196033	+	Intron	SNP	G	G	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:33196033G>C	ENST00000396033.2	-	15	2467				ITGB1_ENST00000374956.4_Intron|ITGB1_ENST00000423113.1_Missense_Mutation_p.F790L|ITGB1_ENST00000302278.3_Intron	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)						axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TTGGATTCTTGAAATTATTAA	0.313																																						ENST00000423113.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(2368-2370)ttC>ttG		integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)							158.0	164.0	162.0					10																	33196033		2203	4300	6503	SO:0001627	intron_variant	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33196033G>C	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.2331+1262C>G	10.37:g.33196033G>C						ITGB1_ENST00000374956.4_Intron|ITGB1_ENST00000396033.2_Intron|ITGB1_ENST00000302278.3_Intron	p.F790L	NM_033668.2	NP_391988.1	P05556	ITB1_HUMAN			15	2369	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	790					A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.2370C>G	CCDS7174.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.254122|4.254122	0.80135|0.80135	.|.	.|.	ENSG00000150093|ENSG00000150093	ENST00000423113|ENST00000488427	D|.	0.90955|.	-2.76|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|.	.|.	.|.	.|.	T|T	0.75117|0.75117	0.3806|0.3806	.|.	.|.	.|.	0.41078|0.41078	D|D	0.985508|0.985508	B|.	0.09022|.	0.002|.	B|.	0.17098|.	0.017|.	T|T	0.72232|0.72232	-0.4353|-0.4353	8|4	0.49607|.	T|.	0.09|.	.|.	18.8008|18.8008	0.92016|0.92016	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	790|.	P05556-5|.	.|.	L|E	790|59	ENSP00000388694:F790L|.	ENSP00000388694:F790L|.	F|Q	-|-	3|1	2|0	ITGB1|ITGB1	33236039|33236039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.865000|9.865000	0.99609|0.99609	2.876000|2.876000	0.98609|0.98609	0.644000|0.644000	0.83932|0.83932	TTC|CAA		0.313	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		22	46	0	0	0	1	0	22	46				
THRB	7068	broad.mit.edu	37	3	24193920	24193920	+	Silent	SNP	G	G	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:24193920G>T	ENST00000356447.4	-	5	629	c.345C>A	c.(343-345)acC>acA	p.T115T	THRB_ENST00000396671.2_Silent_p.T115T|THRB_ENST00000416420.1_Silent_p.T115T|THRB_ENST00000280696.5_Silent_p.T130T	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	115					female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGTGATACCCGGTGGCTTTGT	0.488																																					Melanoma(21;896 1043 15021 37958)	ENST00000396671.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19						c.(343-345)acC>acA		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						153.0	125.0	134.0					3																	24193920		2203	4300	6503	SO:0001819	synonymous_variant	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24193920G>T		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.345C>A	3.37:g.24193920G>T						THRB_ENST00000280696.5_Silent_p.T130T|THRB_ENST00000416420.1_Silent_p.T115T|THRB_ENST00000356447.4_Silent_p.T115T	p.T115T	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN			6	693	-			115					B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP	ENST00000356447.4	37	c.345C>A	CCDS2641.1																																																																																				0.488	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		11	8	1	0	1.61879e-10	1	2.28168e-10	11	8				
LRRC3B	116135	broad.mit.edu	37	3	26751267	26751267	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:26751267C>A	ENST00000396641.2	+	2	696	c.104C>A	c.(103-105)cCc>cAc	p.P35H	LRRC3B_ENST00000417744.1_Missense_Mutation_p.P35H|AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.P35H	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	35	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AGTATGTGTCCCAAGGGCTGT	0.438																																						ENST00000396641.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(103-105)cCc>cAc		leucine rich repeat containing 3B							182.0	169.0	173.0					3																	26751267		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751267C>A	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.104C>A	3.37:g.26751267C>A	ENSP00000379880:p.Pro35His					LRRC3B_ENST00000417744.1_Missense_Mutation_p.P35H|LRRC3B_ENST00000456208.2_Missense_Mutation_p.P35H	p.P35H	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	696	+			35			LRRNT.		Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.104C>A	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765226	0.69878	.	.	ENSG00000179796	ENST00000396641;ENST00000414619;ENST00000432040;ENST00000417744;ENST00000456208	D;D;D;D	0.97976	-4.64;-4.64;-4.64;-4.64	6.17	6.17	0.99709	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99026	0.9667	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99433	1.0936	10	0.87932	D	0	-21.3618	19.8676	0.96824	0.0:1.0:0.0:0.0	.	35	Q96PB8	LRC3B_HUMAN	H	35	ENSP00000379880:P35H;ENSP00000398184:P35H;ENSP00000406370:P35H;ENSP00000394940:P35H	ENSP00000379880:P35H	P	+	2	0	LRRC3B	26726271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CCC		0.438	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		16	22	1	0	1.52009e-12	1	2.23543e-12	16	22				
PCDHA9	9752	broad.mit.edu	37	5	140229239	140229239	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr5:140229239T>C	ENST00000532602.1	+	1	2192	c.1159T>C	c.(1159-1161)Tgc>Cgc	p.C387R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.C387R|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	387	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTTACCTGCTCCCTGAC	0.562																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1159-1161)Tgc>Cgc									115.0	103.0	107.0					5																	140229239		2196	4274	6470	SO:0001583	missense	9752							g.chr5:140229239T>C	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1159T>C	5.37:g.140229239T>C	ENSP00000436042:p.Cys387Arg					PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.C387R|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.C387R	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1883	+								O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.1159T>C	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.752803	0.49362	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.50277	0.75;0.75	3.6	3.6	0.41247	Cadherin (4);Cadherin-like (1);	0.000000	0.34676	U	0.003765	T	0.74935	0.3782	H	0.94808	3.585	0.20975	N	0.999819	D;D	0.89917	1.0;0.96	D;P	0.79784	0.993;0.748	T	0.69953	-0.5005	10	0.87932	D	0	.	12.6426	0.56718	0.0:0.0:0.0:1.0	.	387;387	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	R	387	ENSP00000436042:C387R;ENSP00000367362:C387R	ENSP00000367362:C387R	C	+	1	0	PCDHA9	140209423	0.027000	0.19231	0.907000	0.35723	0.108000	0.19459	1.959000	0.40412	1.609000	0.50190	0.260000	0.18958	TGC		0.562	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		48	85	0	0	0	1	0	48	85				
PKHD1L1	93035	broad.mit.edu	37	8	110499018	110499018	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr8:110499018G>A	ENST00000378402.5	+	59	9952	c.9848G>A	c.(9847-9849)gGc>gAc	p.G3283D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3283					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTACTGGTTGGCTCATTCACT	0.383										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(9847-9849)gGc>gAc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							229.0	224.0	225.0					8																	110499018		1928	4112	6040	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110499018G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9848G>A	8.37:g.110499018G>A	ENSP00000367655:p.Gly3283Asp	HNSCC(38;0.096)					p.G3283D	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		59	9952	+			3283					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9848G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395959	0.62177	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85629	-2.01;-2.01	5.42	5.42	0.78866	Pectin lyase fold/virulence factor (1);	0.160400	0.56097	D	0.000033	D	0.84911	0.5577	M	0.68728	2.09	0.41461	D	0.988049	B	0.15930	0.015	B	0.20184	0.028	T	0.81588	-0.0864	10	0.51188	T	0.08	.	17.0713	0.86574	0.0:0.0:1.0:0.0	.	3283	Q86WI1	PKHL1_HUMAN	D	3283;211	ENSP00000367655:G3283D;ENSP00000437376:G211D	ENSP00000367655:G3283D	G	+	2	0	PKHD1L1	110568194	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	7.728000	0.84847	2.704000	0.92352	0.563000	0.77884	GGC		0.383	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		19	46	0	0	0	1	0	19	46				
LCE2B	26239	broad.mit.edu	37	1	152659361	152659361	+	Silent	SNP	C	C	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:152659361C>T	ENST00000368780.3	+	2	96	c.42C>T	c.(40-42)ccC>ccT	p.P14P	LCE2B_ENST00000417924.2_Silent_p.P14P	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	14	Cys-rich.|Pro-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCCCCTCCCAAGTGTCCTC	0.498																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(40-42)ccC>ccT		late cornified envelope 2B							109.0	110.0	110.0					1																	152659361		2203	4298	6501	SO:0001819	synonymous_variant	26239				keratinization			g.chr1:152659361C>T	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.42C>T	1.37:g.152659361C>T						LCE2B_ENST00000417924.2_Silent_p.P14P	p.P14P	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	96	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		14			Cys-rich.|Pro-rich.		Q5TA80	Silent	SNP	ENST00000368780.3	37	c.42C>T	CCDS1020.1																																																																																				0.498	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		29	93	0	0	0	1	0	29	93				
IKZF1	10320	broad.mit.edu	37	7	50468093	50468093	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr7:50468093A>T	ENST00000331340.3	+	8	1483	c.1328A>T	c.(1327-1329)gAg>gTg	p.E443V	IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Missense_Mutation_p.E213V|IKZF1_ENST00000357364.4_Missense_Mutation_p.E356V|IKZF1_ENST00000359197.5_Missense_Mutation_p.E401V|IKZF1_ENST00000343574.5_Missense_Mutation_p.E356V|IKZF1_ENST00000438033.1_Missense_Mutation_p.E356V|IKZF1_ENST00000439701.1_Missense_Mutation_p.E401V|IKZF1_ENST00000349824.4_Missense_Mutation_p.E300V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	443					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCCGCCTCCGAGAACTCGCAG	0.657			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(1327-1329)gAg>gTg		IKAROS family zinc finger 1 (Ikaros)							26.0	31.0	29.0					7																	50468093		2103	4231	6334	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50468093A>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.1328A>T	7.37:g.50468093A>T	ENSP00000331614:p.Glu443Val					IKZF1_ENST00000439701.1_Missense_Mutation_p.E401V|IKZF1_ENST00000346667.4_Missense_Mutation_p.E213V|IKZF1_ENST00000438033.1_Missense_Mutation_p.E356V|IKZF1_ENST00000357364.4_Missense_Mutation_p.E356V|IKZF1_ENST00000343574.5_Missense_Mutation_p.E356V|IKZF1_ENST00000359197.5_Missense_Mutation_p.E401V|IKZF1_ENST00000349824.4_Missense_Mutation_p.E300V|IKZF1_ENST00000440768.2_3'UTR	p.E443V	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			8	1483	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	443					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.1328A>T		.	.	.	.	.	.	.	.	.	.	A	15.00	2.704784	0.48412	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	D;D;D;D;D;D;D;D	0.96685	-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09;-4.09	5.74	5.74	0.90152	.	0.299636	0.41194	D	0.000922	D	0.97393	0.9147	.	.	.	0.80722	D	1	D;P;B;B;P	0.56521	0.976;0.874;0.234;0.234;0.742	P;P;B;B;P	0.62885	0.908;0.571;0.234;0.087;0.582	D	0.96785	0.9578	9	0.29301	T	0.29	-18.9937	16.0326	0.80588	1.0:0.0:0.0:0.0	.	356;213;356;401;443	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	V	213;356;401;300;356;443;356;401	ENSP00000340080:E213V;ENSP00000342750:E356V;ENSP00000352123:E401V;ENSP00000342485:E300V;ENSP00000349928:E356V;ENSP00000331614:E443V;ENSP00000396554:E356V;ENSP00000413025:E401V	ENSP00000331614:E443V	E	+	2	0	IKZF1	50435587	1.000000	0.71417	0.972000	0.41901	0.623000	0.37688	6.808000	0.75206	2.185000	0.69588	0.528000	0.53228	GAG		0.657	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		9	40	0	0	0	1	0	9	40				
MAP3K8	1326	broad.mit.edu	37	10	30747067	30747067	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr10:30747067A>G	ENST00000263056.1	+	7	1624	c.928A>G	c.(928-930)Atc>Gtc	p.I310V	MAP3K8_ENST00000375321.1_Missense_Mutation_p.I310V|MAP3K8_ENST00000542547.1_Missense_Mutation_p.I310V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)	p.I310V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CAAAGCAGACATCTACAGCCT	0.547																																						ENST00000263056.1																			1	Substitution - Missense(1)	p.I310V(1)	haematopoietic_and_lymphoid_tissue(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(928-930)Atc>Gtc		mitogen-activated protein kinase kinase kinase 8							90.0	90.0	90.0					10																	30747067		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30747067A>G	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.928A>G	10.37:g.30747067A>G	ENSP00000263056:p.Ile310Val					MAP3K8_ENST00000375321.1_Missense_Mutation_p.I310V|MAP3K8_ENST00000542547.1_Missense_Mutation_p.I310V	p.I310V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			7	1624	+		Prostate(175;0.151)	310			Protein kinase.		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.928A>G	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338162	0.81911	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000375321	T;T;T	0.37752	1.18;1.18;1.18	5.05	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44307	0.1287	N	0.17312	0.475	0.80722	D	1	D	0.58620	0.983	D	0.73708	0.981	T	0.49925	-0.8887	10	0.62326	D	0.03	.	15.1442	0.72637	1.0:0.0:0.0:0.0	.	310	P41279	M3K8_HUMAN	V	310	ENSP00000263056:I310V;ENSP00000443610:I310V;ENSP00000364470:I310V	ENSP00000263056:I310V	I	+	1	0	MAP3K8	30787073	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.705000	0.91357	2.052000	0.61016	0.524000	0.50904	ATC		0.547	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		21	25	0	0	0	1	0	21	25				
MYH2	4620	broad.mit.edu	37	17	10432781	10432781	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:10432781C>A	ENST00000245503.5	-	25	3519	c.3135G>T	c.(3133-3135)gaG>gaT	p.E1045D	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1045D|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1045					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTTTCTTGCTCCAAGGACC	0.383																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3133-3135)gaG>gaT		myosin, heavy chain 2, skeletal muscle, adult							120.0	114.0	116.0					17																	10432781		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432781C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3135G>T	17.37:g.10432781C>A	ENSP00000245503:p.Glu1045Asp					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1045D|CTC-297N7.7_ENST00000587182.1_RNA	p.E1045D	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			25	3519	-			1045					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3135G>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.988066	0.53934	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.96136	-3.92;-3.92	5.24	4.28	0.50868	.	0.000000	0.39475	U	0.001342	D	0.94032	0.8088	M	0.74546	2.27	0.44042	D	0.996773	B	0.20459	0.045	B	0.21151	0.033	D	0.92210	0.5775	10	0.66056	D	0.02	.	10.3894	0.44160	0.0:0.8515:0.0:0.1485	.	1045	Q9UKX2	MYH2_HUMAN	D	1045	ENSP00000245503:E1045D;ENSP00000380367:E1045D	ENSP00000245503:E1045D	E	-	3	2	MYH2	10373506	0.958000	0.32768	1.000000	0.80357	0.943000	0.58893	0.131000	0.15870	1.452000	0.47756	-0.186000	0.12905	GAG		0.383	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		11	26	1	0	2.27111e-07	1	2.90776e-07	11	26				
CRB1	23418	broad.mit.edu	37	1	197404094	197404094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr1:197404094delG	ENST00000367400.3	+	9	3236	c.3101delG	c.(3100-3102)tggfs	p.W1034fs	CRB1_ENST00000367397.1_Frame_Shift_Del_p.W415fs|CRB1_ENST00000535699.1_Frame_Shift_Del_p.W1010fs|CRB1_ENST00000544212.1_Frame_Shift_Del_p.W515fs|CRB1_ENST00000367399.2_Frame_Shift_Del_p.W922fs|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1034	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GATGGCACATGGCACGAAGTG	0.443																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1243-1245)tgfs		crumbs homolog 1 (Drosophila)							82.0	84.0	83.0					1																	197404094		2203	4300	6503	SO:0001589	frameshift_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404094delG		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3101delG	1.37:g.197404094delG	ENSP00000356370:p.Trp1034fs					CRB1_ENST00000544212.1_Frame_Shift_Del_p.W515fs|CRB1_ENST00000535699.1_Frame_Shift_Del_p.W1010fs|CRB1_ENST00000367400.3_Frame_Shift_Del_p.W1034fs|CRB1_ENST00000367399.2_Frame_Shift_Del_p.W922fs|CRB1_ENST00000538660.1_Intron	p.W415fs			P82279	CRUM1_HUMAN			5	2102	+			1034			EGF-like 10; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Frame_Shift_Del	DEL	ENST00000367400.3	37	c.1244delG	CCDS1390.1																																																																																				0.443	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		22	31						22	31	---	---	---	---
BARD1	580	broad.mit.edu	37	2	215646211	215646211	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:215646211delC	ENST00000260947.4	-	4	521	c.387delG	c.(385-387)aggfs	p.R129fs	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	129					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAAACTTTTCCTAGGTTTAT	0.328									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(385-387)agfs		BRCA1 associated RING domain 1							57.0	61.0	60.0					2																	215646211		2203	4297	6500	SO:0001589	frameshift_variant	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215646211delC		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.387delG	2.37:g.215646211delC	ENSP00000260947:p.Arg129fs					BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_5'UTR	p.R129fs	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	521	-		Renal(323;0.0243)	129					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Frame_Shift_Del	DEL	ENST00000260947.4	37	c.387delG	CCDS2397.1																																																																																				0.328	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		10	18						10	18	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226273674	226273674	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr2:226273674delG	ENST00000272907.6	+	2	491	c.78delG	c.(76-78)atgfs	p.M26fs	NYAP2_ENST00000409269.2_Frame_Shift_Del_p.M26fs	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	26					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TTGAGGATATGGGGATGAAGG	0.428																																						ENST00000272907.6																			0											c.(76-78)atfs		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							152.0	138.0	142.0					2																	226273674		1899	4125	6024	SO:0001589	frameshift_variant	57624							g.chr2:226273674delG	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.78delG	2.37:g.226273674delG	ENSP00000272907:p.Met26fs					NYAP2_ENST00000409269.2_Frame_Shift_Del_p.M26fs	p.M26fs	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			2	491	+			26					A2RRN4|Q96NL2	Frame_Shift_Del	DEL	ENST00000272907.6	37	c.78delG	CCDS46529.1																																																																																				0.428	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		14	43						14	43	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907558	164907558	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:164907558delC	ENST00000475390.1	-	2	1504	c.1061delG	c.(1060-1062)ggtfs	p.G354fs	SLITRK3_ENST00000241274.3_Frame_Shift_Del_p.G354fs			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	354					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGGTTTGGACCAGGATATAA	0.502										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(1060-1062)gtfs		SLIT and NTRK-like family, member 3							286.0	304.0	298.0					3																	164907558		2203	4300	6503	SO:0001589	frameshift_variant	22865					integral to membrane		g.chr3:164907558delC	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1061delG	3.37:g.164907558delC	ENSP00000420091:p.Gly354fs	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Frame_Shift_Del_p.G354fs	p.G354fs			O94933	SLIK3_HUMAN			2	1504	-			354					Q1RMY6	Frame_Shift_Del	DEL	ENST00000475390.1	37	c.1061delG	CCDS3197.1																																																																																				0.502	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		50	181						50	181	---	---	---	---
SLC2A2	6514	broad.mit.edu	37	3	170727800	170727800	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr3:170727800delC	ENST00000314251.3	-	4	522	c.443delG	c.(442-444)ggafs	p.G148fs	SLC2A2_ENST00000382808.4_Frame_Shift_Del_p.G29fs	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	148					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	ATGAGATGGTCCCAATTTTGA	0.373																																						ENST00000314251.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(442-444)gafs		solute carrier family 2 (facilitated glucose transporter), member 2							80.0	80.0	80.0					3																	170727800		2203	4300	6503	SO:0001589	frameshift_variant	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170727800delC	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.443delG	3.37:g.170727800delC	ENSP00000323568:p.Gly148fs					SLC2A2_ENST00000382808.4_Frame_Shift_Del_p.G29fs	p.G148fs	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		4	522	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		148					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Frame_Shift_Del	DEL	ENST00000314251.3	37	c.443delG	CCDS3215.1																																																																																				0.373	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		16	14						16	14	---	---	---	---
NDST3	9348	broad.mit.edu	37	4	119154206	119154206	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr4:119154206delC	ENST00000296499.5	+	9	2262	c.1859delC	c.(1858-1860)tccfs	p.S620fs	NDST3_ENST00000433996.2_Frame_Shift_Del_p.S539fs	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	620	Heparan sulfate N-sulfotransferase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ATGCATCCTTCCATCCTTAGT	0.373																																						ENST00000296499.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						c.(1858-1860)tcfs		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3							189.0	187.0	187.0					4																	119154206		2203	4299	6502	SO:0001589	frameshift_variant	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119154206delC	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1859delC	4.37:g.119154206delC	ENSP00000296499:p.Ser620fs					NDST3_ENST00000433996.2_Frame_Shift_Del_p.S539fs	p.S620fs	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN			9	2262	+			620			Heparan sulfate N-sulfotransferase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Frame_Shift_Del	DEL	ENST00000296499.5	37	c.1859delC	CCDS3708.1																																																																																				0.373	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		8	25						8	25	---	---	---	---
LCA5	167691	broad.mit.edu	37	6	80197310	80197310	+	Frame_Shift_Del	DEL	G	G	-	rs17857375		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr6:80197310delG	ENST00000392959.1	-	9	2116	c.1505delC	c.(1504-1506)ccafs	p.P502fs	LCA5_ENST00000369846.4_Frame_Shift_Del_p.P502fs	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	502				P -> R (in Ref. 3; AAH50327). {ECO:0000305}.	intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTTCTCTCTGGGGAGTGTAG	0.383																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(1504-1506)cafs		Leber congenital amaurosis 5							129.0	131.0	130.0					6																	80197310		2203	4299	6502	SO:0001589	frameshift_variant	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80197310delG		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1505delC	6.37:g.80197310delG	ENSP00000376686:p.Pro502fs					LCA5_ENST00000369846.4_Frame_Shift_Del_p.P502fs	p.P502fs	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	9	2116	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	502	P -> R (in Ref. 3; AAH50327).				E1P542|Q9BWX7	Frame_Shift_Del	DEL	ENST00000392959.1	37	c.1505delC	CCDS4990.1																																																																																				0.383	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		18	75						18	75	---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17531213	17531213	+	Intron	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:17531213delG	ENST00000318024.4	-	16	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000005226.7_Frame_Shift_Del_p.P569fs|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GTTGGAGGGTGGAGGGTGGGG	0.627																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(1702-1704)cafs		Usher syndrome 1C (autosomal recessive, severe)							15.0	17.0	16.0					11																	17531213		2199	4292	6491	SO:0001627	intron_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17531213delG	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7686C>-	11.37:g.17531213delG						USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron	p.P569fs	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			18	1702	-			0					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Frame_Shift_Del	DEL	ENST00000318024.4	37	c.1703delC	CCDS31438.1																																																																																				0.627	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		7	8						7	8	---	---	---	---
OR8H1	219469	broad.mit.edu	37	11	56058244	56058244	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:56058244delG	ENST00000313022.2	-	1	322	c.295delC	c.(295-297)cagfs	p.Q99fs		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AAGAACATCTGGGCAAAGCAG	0.428																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(295-297)agfs		olfactory receptor, family 8, subfamily H, member 1							219.0	219.0	219.0					11																	56058244		2201	4296	6497	SO:0001589	frameshift_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058244delG	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.295delC	11.37:g.56058244delG	ENSP00000323595:p.Gln99fs						p.Q99fs	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	322	-	Esophageal squamous(21;0.00448)		99					B2RNI7|Q6IFC5	Frame_Shift_Del	DEL	ENST00000313022.2	37	c.295delC	CCDS31526.1																																																																																				0.428	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		29	107						29	107	---	---	---	---
RP11-856F16.2	0	broad.mit.edu	37	11	94647237	94647240	+	RNA	DEL	TACC	TACC	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr11:94647237_94647240delTACC	ENST00000545958.1	-	0	97																											TATGTCAAAATACCAGAGCAACCC	0.422																																						ENST00000545958.1																			0																																																			0							g.chr11:94647237_94647240delTACC																													11.37:g.94647237_94647240delTACC														0	97	-									RNA	DEL	ENST00000545958.1	37																																																																																						0.422	RP11-856F16.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000396687.1			8	27						8	27	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546856	11546858	+	In_Frame_Del	DEL	AGA	AGA	-	rs200312236|rs202119309		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr12:11546856_11546858delAGA	ENST00000389362.4	-	3	189_191	c.154_156delTCT	c.(154-156)tctdel	p.S52del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	52						extracellular region (GO:0005576)		p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCCTGGAGGAGATGGGGGACCT	0.557																																						ENST00000389362.4																			3	Unknown(2)|Deletion - In frame(1)	p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1)	stomach(3)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(154-156)del		proline-rich protein BstNI subfamily 2				14,4130		3,8,2061						1.0	0.0			144	22,8112		1,20,4046	no	coding	PRB2	NM_006248.3		4,28,6107	A1A1,A1R,RR		0.2705,0.3378,0.2932				36,12242				SO:0001651	inframe_deletion	653247							g.chr12:11546856_11546858delAGA	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.154_156delTCT	12.37:g.11546856_11546858delAGA	ENSP00000374013:p.Ser52del					PRB1_ENST00000546254.1_Intron	p.S52del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	189_191	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.154_156delTCT	CCDS41757.2																																																																																				0.557	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	488						7	488	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24043458	24043458	+	Splice_Site	DEL	A	A	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:24043458delA	ENST00000321728.7	+	4	465	c.290delA	c.(289-291)gac>gc	p.D97fs	PRKCB_ENST00000303531.7_Splice_Site_p.D97fs	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	97					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TGGCTCCAGGACCCCCGCAGC	0.537																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.e4-1		protein kinase C, beta	Vitamin E(DB00163)						84.0	73.0	77.0					16																	24043458		2197	4300	6497	SO:0001630	splice_region_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24043458delA	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.289-1A>-	16.37:g.24043458delA						PRKCB_ENST00000321728.7_Splice_Site_p.D97_splice	p.D97_splice	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			4	442	+			97					C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Splice_Site	DEL	ENST00000321728.7	37	c.288_splice	CCDS10618.1																																																																																				0.537	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	Frame_Shift_Del	16	23						16	23	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28847078	28847079	+	Splice_Site	INS	-	-	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr16:28847078_28847079insG	ENST00000336783.4	+	21	3061_3062	c.2894_2895insG	c.(2893-2898)caggcc>caGggcc	p.A966fs	ATXN2L_ENST00000564304.1_Splice_Site_p.A972fs|ATXN2L_ENST00000340394.8_Splice_Site_p.A966fs|ATXN2L_ENST00000395547.2_Splice_Site_p.A966fs|ATXN2L_ENST00000570200.1_Splice_Site_p.A966fs|ATXN2L_ENST00000382686.4_Splice_Site_p.A966fs|ATXN2L_ENST00000325215.6_Splice_Site_p.A966fs|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	966					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CATGTTACCCAGGTAAGAGCCC	0.629																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.e21+1		ataxin 2-like																																				SO:0001630	splice_region_variant	11273					membrane		g.chr16:28847078_28847079insG		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.2895+1->G	16.37:g.28847080_28847080dupG						ATXN2L_ENST00000564304.1_Splice_Site_p.R971_splice|ATXN2L_ENST00000570200.1_Splice_Site_p.R965_splice|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Splice_Site_p.R965_splice|ATXN2L_ENST00000382686.4_Splice_Site_p.R965_splice|ATXN2L_ENST00000340394.8_Splice_Site_p.R965_splice|ATXN2L_ENST00000325215.6_Splice_Site_p.R965_splice	p.R965_splice	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN			21	3061_3062	+			965					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Splice_Site	INS	ENST00000336783.4	37	c.2895_splice	CCDS10641.1																																																																																				0.629	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245	Frame_Shift_Ins	13	74						13	74	---	---	---	---
LOC100287072	100287072	broad.mit.edu	37	17	20623668	20623668	+	RNA	DEL	T	T	-	rs539058062	byFrequency	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr17:20623668delT	ENST00000578210.1	+	0	150					NR_073509.1																						gcccggctaattttttttttt	0.572													|||unknown(NO_COVERAGE)	1336	0.266773	0.2292	0.2767	5008	,	,		11315	0.2778		0.2584	False		,,,				2504	0.3078					ENST00000578210.1																			0																																																			100287072							g.chr17:20623668delT																													17.37:g.20623668delT								NR_073509.1						0	150	+									RNA	DEL	ENST00000578210.1	37																																																																																						0.572	AC126365.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443937.1			3	4						3	4	---	---	---	---
FGF22	27006	broad.mit.edu	37	19	643528	643528	+	Frame_Shift_Del	DEL	G	G	-	rs527353913		TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:643528delG	ENST00000215530.5	+	3	468	c.437delG	c.(436-438)aggfs	p.R146fs	FGF22_ENST00000586042.2_Frame_Shift_Del_p.E138fs|FGF22_ENST00000166133.3_Frame_Shift_Del_p.R105fs	NM_020637.1	NP_065688.1	Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22	146					cell differentiation (GO:0030154)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)				endometrium(1)|lung(1)|prostate(1)	3		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGGACAGGAggggggggccc	0.736																																						ENST00000215530.5																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(436-438)agfs		fibroblast growth factor 22							10.0	11.0	11.0					19																	643528		2162	4234	6396	SO:0001589	frameshift_variant	27006				cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity	g.chr19:643528delG		CCDS12037.1, CCDS74241.1	19p13.3	2008-07-04				ENSG00000070388			3679	protein-coding gene	gene with protein product		605831				15260994, 16597617	Standard	NM_020637		Approved		uc010xfq.2	Q9HCT0		ENST00000215530.5:c.437delG	19.37:g.643528delG	ENSP00000215530:p.Arg146fs					FGF22_ENST00000586042.2_Frame_Shift_Del_p.E138fs|FGF22_ENST00000166133.3_Frame_Shift_Del_p.R105fs	p.R146fs	NM_020637.1	NP_065688.1	Q9HCT0	FGF22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	468	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	146					B2RPH4	Frame_Shift_Del	DEL	ENST00000215530.5	37	c.437delG	CCDS12037.1																																																																																				0.736	FGF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452103.1			16	40						16	40	---	---	---	---
SF3A2	8175	broad.mit.edu	37	19	2248382	2248402	+	In_Frame_Del	DEL	CTCCCGGGGTCCATCCGTCGG	CTCCCGGGGTCCATCCGTCGG	-	rs375372766|rs375562170	byFrequency	TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:2248382_2248402delCTCCCGGGGTCCATCCGTCGG	ENST00000221494.5	+	9	1650_1670	c.1232_1252delCTCCCGGGGTCCATCCGTCGG	c.(1231-1254)cctcccggggtccatccgtcggct>cct	p.PGVHPSA412del	AMH_ENST00000221496.4_5'Flank|MIR4321_ENST00000592276.1_RNA	NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	412	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(2)	4		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)		CACCCCCAACCTCCCGGGGTCCATCCGTCGGCTCCTGGGGT	0.719																																						ENST00000221494.4																			0				NS(1)|large_intestine(1)|lung(2)	4						c.(1231-1254)cct>c		splicing factor 3a, subunit 2, 66kDa																																				SO:0001651	inframe_deletion	8175				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding	g.chr19:2248382_2248402delCTCCCGGGGTCCATCCGTCGG	L21990	CCDS12084.1	19p13.3	2012-10-02	2002-08-29		ENSG00000104897	ENSG00000104897			10766	protein-coding gene	gene with protein product		600796	"""splicing factor 3a, subunit 2, 66kD"""			8211113, 8541848	Standard	NM_007165		Approved	SF3a66, SAP62, PRPF11, Prp11	uc002lvg.3	Q15428	OTTHUMG00000180414	ENST00000221494.5:c.1232_1252delCTCCCGGGGTCCATCCGTCGG	19.37:g.2248382_2248402delCTCCCGGGGTCCATCCGTCGG	ENSP00000221494:p.Pro412_Ala418del						p.PPGVHPSA411del	NM_007165.4	NP_009096.2	Q15428	SF3A2_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)	9	1650_1670	+		Hepatocellular(1079;0.137)	411			Pro-rich.		B2RBU1|D6W605|O75245	In_Frame_Del	DEL	ENST00000221494.5	37	c.1232_1252delCTCCCGGGGTCCATCCGTCGG	CCDS12084.1																																																																																				0.719	SF3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451268.3			2	4						2	4	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9058463	9058463	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:9058463delG	ENST00000397910.4	-	3	29186	c.28983delC	c.(28981-28983)accfs	p.T9661fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9663	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTGGTGATGGTTATTTCTG	0.498																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28981-28983)acfs		mucin 16, cell surface associated							175.0	155.0	161.0					19																	9058463		2000	4161	6161	SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058463delG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28983delC	19.37:g.9058463delG	ENSP00000381008:p.Thr9661fs						p.T9661fs	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29186	-			9663			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.28983delC	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	27						16	27	---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50549456	50549457	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr19:50549456_50549457insG	ENST00000595661.1	+	6	2251_2252	c.1756_1757insG	c.(1756-1758)aggfs	p.R586fs	ZNF473_ENST00000445728.3_Frame_Shift_Ins_p.R574fs|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Frame_Shift_Ins_p.R586fs|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Frame_Shift_Ins_p.R586fs			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	586					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GATTCACACCAGGGGAGTGAAG	0.455																																						ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1756-1758)gggfs		zinc finger protein 473																																				SO:0001589	frameshift_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549456_50549457insG	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1760dupG	19.37:g.50549460_50549460dupG	ENSP00000472808:p.Arg586fs					ZNF473_ENST00000270617.3_Frame_Shift_Ins_p.G586fs|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Frame_Shift_Ins_p.G586fs|ZNF473_ENST00000445728.3_Frame_Shift_Ins_p.G574fs	p.G586fs			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2251_2252	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	586					A8K8T7|Q9ULS9|Q9Y4Q7	Frame_Shift_Ins	INS	ENST00000595661.1	37	c.1756_1757insG	CCDS33077.1																																																																																				0.455	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		11	18						11	18	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56099177	56099177	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr20:56099177delC	ENST00000608263.1	-	1	746	c.85delG	c.(85-87)gagfs	p.E31fs	CTCFL_ENST00000432255.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000429804.3_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000608158.1_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000423479.3_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608425.1_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000609232.1_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000481655.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000608440.1_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000502686.2_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	31					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TTTTCCTCCTCCTTCAGGCCT	0.532																																						ENST00000426658.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(85-87)agfs		CCCTC-binding factor (zinc finger protein)-like							237.0	263.0	254.0					20																	56099177		2203	4300	6503	SO:0001589	frameshift_variant	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56099177delC		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.85delG	20.37:g.56099177delC	ENSP00000476783:p.Glu31fs					CTCFL_ENST00000433949.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.E31fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.E31fs	p.E31fs			Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	746	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		31					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Frame_Shift_Del	DEL	ENST00000608263.1	37	c.85delG	CCDS13459.1																																																																																				0.532	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		64	168						64	168	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47681227	47681228	+	Frame_Shift_Ins	INS	-	-	TTCG			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr21:47681227_47681228insTTCG	ENST00000397708.1	-	15	3687_3688	c.3433_3434insCGAA	c.(3433-3435)aggfs	p.R1145fs	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.R1145fs|MCM3AP_ENST00000467026.1_5'Flank			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1145					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTCCTGCTCCCTTCGCTCTCTT	0.5																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(3433-3435)ggafs		minichromosome maintenance complex component 3 associated protein																																				SO:0001589	frameshift_variant	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47681227_47681228insTTCG	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.3430_3433dupCGAA	21.37:g.47681228_47681231dupTTCG	ENSP00000380820:p.Arg1145fs					MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.G1145fs	p.G1145fs			O60318	MCM3A_HUMAN			15	3687_3688	-	Breast(49;0.112)		1145					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.3433_3434insCGAA	CCDS13734.1																																																																																				0.500	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		41	123						41	123	---	---	---	---
ADRBK2	157	broad.mit.edu	37	22	26083503	26083503	+	Splice_Site	DEL	G	G	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr22:26083503delG	ENST00000324198.6	+	11	1018		c.e11-1			NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2						receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCTGATTCCAGGGGGCGATTT	0.403																																						ENST00000324198.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.e11-1		adrenergic, beta, receptor kinase 2	Adenosine triphosphate(DB00171)						109.0	91.0	97.0					22																	26083503		2203	4300	6503	SO:0001630	splice_region_variant	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26083503delG	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.827-1G>-	22.37:g.26083503delG								NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN			11	1018	+								Q9UGW9	Splice_Site	DEL	ENST00000324198.6	37		CCDS13832.1																																																																																				0.403	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160	Intron	8	20						8	20	---	---	---	---
ADM2	79924	broad.mit.edu	37	22	50921379	50921379	+	3'UTR	DEL	C	C	-			TCGA-CN-A497-01A-11D-A24D-08	TCGA-CN-A497-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2940c863-461c-4036-82d9-15d08e666dac	8736b22a-255d-4677-8a2f-2d1ab8e02014	g.chr22:50921379delC	ENST00000395738.2	+	0	786				ADM2_ENST00000362068.2_Frame_Shift_Del_p.P83fs	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGTGCTGTGCCCCCGTCCAG	0.677																																						ENST00000362068.2																			0				breast(1)|kidney(1)	2						c.(244-246)ccfs		adrenomedullin 2							3.0	3.0	3.0					22																	50921379		1860	3838	5698	SO:0001624	3_prime_UTR_variant	79924				positive regulation of angiogenesis	extracellular region	hormone activity	g.chr22:50921379delC	AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"""Endogenous ligands"""	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.*47C>-	22.37:g.50921379delC						ADM2_ENST00000395738.2_3'UTR	p.P83fs			Q7Z4H4	ADM2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	2	759	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	0					Q3LFQ0	Frame_Shift_Del	DEL	ENST00000395738.2	37	c.244delC	CCDS33682.1																																																																																				0.677	ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866		4	4						4	4	---	---	---	---
