#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
EPB41L3	23136	broad.mit.edu	37	18	5423443	5423443	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr18:5423443G>A	ENST00000341928.2	-	11	1613	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	EPB41L3_ENST00000400111.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R425C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R425C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	425	Hydrophilic.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTGCTGGGCGATCTATCAAC	0.493																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1273-1275)Cgc>Tgc		erythrocyte membrane protein band 4.1-like 3							201.0	151.0	168.0					18																	5423443		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5423443G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1273C>T	18.37:g.5423443G>A	ENSP00000343158:p.Arg425Cys					EPB41L3_ENST00000540638.2_Missense_Mutation_p.R425C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R425C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000542652.2_5'UTR	p.R425C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			11	1613	-			425			Hydrophilic.		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1273C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518106	0.85495	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	6.08	6.08	0.98989	FERM adjacent (FA) (1);	0.000000	0.85682	D	0.000000	D	0.97417	0.9155	M	0.94021	3.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.999	D	0.97499	1.0059	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	425;316;425;425	F5GX05;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	C	425;316;425;316;425;425	ENSP00000343158:R425C;ENSP00000441174:R425C;ENSP00000341138:R425C;ENSP00000382981:R425C	ENSP00000343158:R425C	R	-	1	0	EPB41L3	5413443	1.000000	0.71417	0.990000	0.47175	0.926000	0.56050	6.347000	0.73004	2.894000	0.99253	0.591000	0.81541	CGC		0.493	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		12	49	0	0	0	1	0	12	49				
GRIK1	2897	broad.mit.edu	37	21	30963507	30963507	+	Silent	SNP	C	C	T	rs144528849		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr21:30963507C>T	ENST00000399907.1	-	10	1701	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	GRIK1_ENST00000389124.2_Silent_p.T430T|GRIK1_ENST00000535441.1_Silent_p.T432T|GRIK1_ENST00000309434.7_Silent_p.T432T|GRIK1_ENST00000399909.1_Silent_p.T415T|GRIK1_ENST00000327783.4_Silent_p.T430T|GRIK1_ENST00000389125.3_Silent_p.T415T|GRIK1_ENST00000399914.1_Silent_p.T415T|GRIK1_ENST00000399913.1_Silent_p.T430T	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	430					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.T430T(1)|p.T415T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TGTTGCTGTCCGTCATGTTAA	0.448																																						ENST00000399914.1																			2	Substitution - coding silent(2)	p.T430T(1)|p.T415T(1)	large_intestine(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1243-1245)acG>acA		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)	C	,	2,4404	4.2+/-10.8	0,2,2201	397.0	313.0	341.0		1290,1245	-10.1	0.1	21	dbSNP_134	341	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRIK1	NM_000830.3,NM_175611.2	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	430/919,415/906	30963507	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30963507C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1290G>A	21.37:g.30963507C>T						GRIK1_ENST00000535441.1_Silent_p.T432T|GRIK1_ENST00000309434.7_Silent_p.T432T|GRIK1_ENST00000389125.3_Silent_p.T415T|GRIK1_ENST00000399913.1_Silent_p.T430T|GRIK1_ENST00000399909.1_Silent_p.T415T|GRIK1_ENST00000327783.4_Silent_p.T430T|GRIK1_ENST00000389124.2_Silent_p.T430T|GRIK1_ENST00000399907.1_Silent_p.T430T	p.T415T			P39086	GRIK1_HUMAN			9	1766	-			430					Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	c.1245G>A	CCDS42913.1																																																																																				0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			6	175	0	0	0	1	0	6	175				
NCAPD3	23310	broad.mit.edu	37	11	134079319	134079319	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr11:134079319C>T	ENST00000534548.2	-	5	684	c.620G>A	c.(619-621)cGg>cAg	p.R207Q		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	207					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGAAAGGTCCCGGGCAGAAAA	0.343																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(619-621)cGg>cAg		non-SMC condensin II complex, subunit D3							43.0	47.0	45.0					11																	134079319		2200	4297	6497	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134079319C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.620G>A	11.37:g.134079319C>T	ENSP00000433681:p.Arg207Gln						p.R207Q	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	5	684	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	207					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.620G>A	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	C	0.171	-1.071169	0.01918	.	.	ENSG00000151503	ENST00000534548	T	0.20463	2.07	5.43	0.233	0.15386	.	0.657045	0.16975	N	0.191925	T	0.11836	0.0288	L	0.33485	1.01	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.38779	-0.9645	10	0.09843	T	0.71	-1.6014	7.3951	0.26931	0.1103:0.5329:0.0:0.3568	.	207	P42695	CNDD3_HUMAN	Q	207	ENSP00000433681:R207Q	ENSP00000431612:R207Q	R	-	2	0	NCAPD3	133584529	0.000000	0.05858	0.017000	0.16124	0.180000	0.23129	0.033000	0.13754	-0.065000	0.13021	-0.813000	0.03139	CGG		0.343	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		4	56	0	0	0	1	0	4	56				
SRCAP	10847	broad.mit.edu	37	16	30715429	30715429	+	Silent	SNP	C	C	T			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr16:30715429C>T	ENST00000262518.4	+	4	484	c.99C>T	c.(97-99)gcC>gcT	p.A33A	SRCAP_ENST00000395059.2_Silent_p.A33A|RNU6-1043P_ENST00000410355.1_RNA|SRCAP_ENST00000344771.4_Silent_p.A33A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	33					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTCCCCTGCCTCATCCAGTT	0.552																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(97-99)gcC>gcT		Snf2-related CREBBP activator protein							70.0	72.0	71.0					16																	30715429		1986	4156	6142	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30715429C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.99C>T	16.37:g.30715429C>T						SRCAP_ENST00000395059.2_Silent_p.A33A|SRCAP_ENST00000344771.4_Silent_p.A33A	p.A33A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		4	484	+			33					B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.99C>T	CCDS10689.2																																																																																				0.552	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		31	108	0	0	0	1	0	31	108				
AXIN2	8313	broad.mit.edu	37	17	63526188	63526188	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr17:63526188G>A	ENST00000375702.5	-	9	2351	c.2243C>T	c.(2242-2244)gCc>gTc	p.A748V	AXIN2_ENST00000307078.5_Missense_Mutation_p.A813V			Q9Y2T1	AXIN2_HUMAN	axin 2	813					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CGCTCCACAGGCAAACTCATC	0.453									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(2437-2439)gCc>gTc		axin 2							129.0	114.0	119.0					17																	63526188		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63526188G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.2243C>T	17.37:g.63526188G>A	ENSP00000364854:p.Ala748Val					AXIN2_ENST00000375702.5_Missense_Mutation_p.A748V	p.A813V	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			11	2751	-			813			DIX.		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.2438C>T		.	.	.	.	.	.	.	.	.	.	G	20.8	4.053338	0.75960	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.43688	0.94;0.94	5.57	4.55	0.56014	DIX (3);	0.095068	0.64402	D	0.000001	T	0.27900	0.0687	N	0.03608	-0.345	0.42210	D	0.991807	P;P	0.46142	0.873;0.671	P;B	0.48654	0.585;0.202	T	0.22068	-1.0227	10	0.66056	D	0.02	-29.6899	11.1206	0.48287	0.0:0.0:0.5924:0.4076	.	813;748	Q9Y2T1;E7ES00	AXIN2_HUMAN;.	V	813;748	ENSP00000302625:A813V;ENSP00000364854:A748V	ENSP00000302625:A813V	A	-	2	0	AXIN2	60956650	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.859000	0.75467	2.619000	0.88677	0.561000	0.74099	GCC		0.453	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		4	128	0	0	0	1	0	4	128				
OR5B17	219965	broad.mit.edu	37	11	58126185	58126185	+	Missense_Mutation	SNP	G	G	A	rs142474037		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr11:58126185G>A	ENST00000357377.3	-	1	357	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R120C(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTGCGTAGCGGTCATAGGCC	0.473																																						ENST00000357377.3																			1	Substitution - Missense(1)	p.R120C(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(358-360)Cgc>Tgc		olfactory receptor, family 5, subfamily B, member 17		G	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	124.0	111.0	115.0		358	2.7	0.8	11	dbSNP_134	115	2,8588	2.2+/-6.3	0,2,4293	yes	missense	OR5B17	NM_001005489.1	180	0,3,6493	AA,AG,GG		0.0233,0.0227,0.0231	benign	120/315	58126185	3,12989	2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126185G>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.358C>T	11.37:g.58126185G>A	ENSP00000349945:p.Arg120Cys						p.R120C	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	357	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	120					Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.358C>T	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	g	11.97	1.797199	0.31777	2.27E-4	2.33E-4	ENSG00000197786	ENST00000357377	T	0.77358	-1.09	3.6	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.208574	0.24033	N	0.042165	T	0.77212	0.4097	M	0.86268	2.805	0.31811	N	0.627163	P	0.34412	0.453	B	0.32928	0.155	T	0.79843	-0.1632	10	0.72032	D	0.01	-0.7041	9.8508	0.41055	0.1056:0.0:0.8944:0.0	.	120	Q8NGF7	OR5BH_HUMAN	C	120	ENSP00000349945:R120C	ENSP00000349945:R120C	R	-	1	0	OR5B17	57882761	0.018000	0.18449	0.811000	0.32455	0.649000	0.38597	1.672000	0.37523	0.717000	0.32145	0.461000	0.40582	CGC		0.473	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		4	84	0	0	0	1	0	4	84				
IRS4	8471	broad.mit.edu	37	X	107976000	107976000	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chrX:107976000G>A	ENST00000372129.2	-	1	3651	c.3575C>T	c.(3574-3576)cCa>cTa	p.P1192L	RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1192	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTGCAGATGGGTTGTGGGC	0.637																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(3574-3576)cCa>cTa		insulin receptor substrate 4							68.0	71.0	70.0					X																	107976000		2202	4299	6501	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107976000G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3575C>T	X.37:g.107976000G>A	ENSP00000361202:p.Pro1192Leu						p.P1192L	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	3651	-			1192			Ala-rich.			Missense_Mutation	SNP	ENST00000372129.2	37	c.3575C>T	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457842	0.43634	.	.	ENSG00000133124	ENST00000372129	T	0.37584	1.19	4.39	0.527	0.17084	.	0.882047	0.09806	N	0.753483	T	0.20941	0.0504	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.23940	-1.0174	10	0.48119	T	0.1	3.2935	2.9353	0.05812	0.342:0.0:0.4529:0.2051	.	1192	O14654	IRS4_HUMAN	L	1192	ENSP00000361202:P1192L	ENSP00000361202:P1192L	P	-	2	0	IRS4	107862656	0.085000	0.21516	0.001000	0.08648	0.001000	0.01503	0.533000	0.23082	-0.035000	0.13691	-0.191000	0.12829	CCA		0.637	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		6	130	0	0	0	1	0	6	130				
RGS16	6004	broad.mit.edu	37	1	182571581	182571581	+	Missense_Mutation	SNP	G	G	C	rs368228931		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr1:182571581G>C	ENST00000367558.5	-	3	342	c.194C>G	c.(193-195)tCg>tGg	p.S65W		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	65	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CAGGTCGAACGACTCTCTCCA	0.438																																						ENST00000367558.5																			0				NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						c.(193-195)tCg>tGg		regulator of G-protein signaling 16							80.0	76.0	77.0					1																	182571581		2203	4300	6503	SO:0001583	missense	6004				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:182571581G>C	U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"""Regulators of G-protein signaling"""	9997	protein-coding gene	gene with protein product		602514	"""regulator of G-protein signalling 16"""			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.194C>G	1.37:g.182571581G>C	ENSP00000356529:p.Ser65Trp						p.S65W	NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN			3	342	-			65			RGS.		B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	ENST00000367558.5	37	c.194C>G	CCDS1348.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216275	0.79352	.	.	ENSG00000143333	ENST00000367558	T	0.02498	4.27	5.23	5.23	0.72850	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.30592	-0.9973	10	0.87932	D	0	.	16.0754	0.80965	0.0:0.0:1.0:0.0	.	65;65	B4DVW5;O15492	.;RGS16_HUMAN	W	65	ENSP00000356529:S65W	ENSP00000356529:S65W	S	-	2	0	RGS16	180838204	1.000000	0.71417	0.946000	0.38457	0.996000	0.88848	7.915000	0.87484	2.594000	0.87642	0.655000	0.94253	TCG		0.438	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085188.1	NM_002928		11	54	0	0	0	1	0	11	54				
RSPO2	340419	broad.mit.edu	37	8	109001362	109001362	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr8:109001362G>A	ENST00000276659.5	-	3	825	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.R2C	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	69					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCATACTGGCGCATCCCTTCT	0.473																																						ENST00000276659.5																		EIF3E/RSPO2(6)	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28						c.(205-207)Cgc>Tgc		R-spondin 2							121.0	99.0	106.0					8																	109001362		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001362G>A	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.205C>T	8.37:g.109001362G>A	ENSP00000276659:p.Arg69Cys					RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.R2C|RSPO2_ENST00000517781.1_Intron	p.R69C	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	825	-			69					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.205C>T	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257135	0.80246	.	.	ENSG00000147655	ENST00000517939;ENST00000276659;ENST00000521502;ENST00000521757;ENST00000521956;ENST00000520026;ENST00000522333	T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	5.04	2.85	0.33270	Growth factor, receptor (1);	0.048247	0.64402	D	0.000001	D	0.85885	0.5801	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86809	0.1997	10	0.72032	D	0.01	-1.5052	11.5156	0.50520	0.0:0.0:0.3984:0.6016	.	69	Q6UXX9	RSPO2_HUMAN	C	2;69;2;2;69;41;69	ENSP00000428940:R2C;ENSP00000276659:R69C;ENSP00000428614:R2C;ENSP00000430485:R2C;ENSP00000430010:R69C;ENSP00000429159:R41C;ENSP00000430973:R69C	ENSP00000276659:R69C	R	-	1	0	RSPO2	109070538	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.320000	0.59203	1.205000	0.43262	0.557000	0.71058	CGC		0.473	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		15	66	0	0	0	1	0	15	66				
ARHGAP25	9938	broad.mit.edu	37	2	69002491	69002491	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr2:69002491A>G	ENST00000295381.3	+	2	619	c.200A>G	c.(199-201)tAc>tGc	p.Y67C	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.Y41C|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.Y67C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.Y67C	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	67	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAGCAGAGGTACTTTGTGCTG	0.577																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(199-201)tAc>tGc		Rho GTPase activating protein 25							131.0	139.0	136.0					2																	69002491		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002491A>G	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.200A>G	2.37:g.69002491A>G	ENSP00000295381:p.Tyr67Cys					ARHGAP25_ENST00000409202.3_Missense_Mutation_p.Y67C|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.Y67C|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.Y41C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.Y60C	p.Y67C	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			2	619	+			67			PH.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.200A>G		.	.	.	.	.	.	.	.	.	.	A	20.1	3.940283	0.73557	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079	T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.131154	0.53938	D	0.000055	T	0.51839	0.1698	M	0.92784	3.345	0.49798	D	0.999829	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.996;0.998;0.996;0.996;0.992;0.997	T	0.64206	-0.6462	10	0.87932	D	0	.	14.5679	0.68191	1.0:0.0:0.0:0.0	.	67;41;67;60;60;60;67	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	C	41;67;67;67;60;60;60;60	ENSP00000439917:Y41C;ENSP00000295381:Y67C;ENSP00000386911:Y67C;ENSP00000420583:Y67C;ENSP00000386863:Y60C;ENSP00000386241:Y60C;ENSP00000417139:Y60C	ENSP00000295381:Y67C	Y	+	2	0	ARHGAP25	68855995	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.596000	0.46205	2.111000	0.64477	0.460000	0.39030	TAC		0.577	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		7	223	0	0	0	1	0	7	223				
KIRREL	55243	broad.mit.edu	37	1	158059381	158059381	+	Silent	SNP	C	C	T	rs146308217	byFrequency	TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr1:158059381C>T	ENST00000359209.6	+	9	1201	c.1134C>T	c.(1132-1134)atC>atT	p.I378I	KIRREL_ENST00000392272.2_Silent_p.I275I|KIRREL_ENST00000360089.4_Silent_p.I214I|KIRREL_ENST00000368172.1_Silent_p.I192I|KIRREL_ENST00000416935.2_Silent_p.I278I|KIRREL_ENST00000368173.3_Silent_p.I394I			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	378	Ig-like C2-type 4.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TGCCTCGAATCGGAGTGGCTG	0.622													C|||	4	0.000798722	0.0008	0.0	5008	,	,		19444	0.0		0.003	False		,,,				2504	0.0					ENST00000368172.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38						c.(574-576)atC>atT		kin of IRRE like (Drosophila)		C		0,4406		0,0,2203	54.0	57.0	56.0		1134	-1.3	1.0	1	dbSNP_134	56	25,8575	18.5+/-59.3	0,25,4275	no	coding-synonymous	KIRREL	NM_018240.5		0,25,6478	TT,TC,CC		0.2907,0.0,0.1922		378/758	158059381	25,12981	2203	4300	6503	SO:0001819	synonymous_variant	55243					integral to membrane		g.chr1:158059381C>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1134C>T	1.37:g.158059381C>T						KIRREL_ENST00000368173.3_Silent_p.I394I|KIRREL_ENST00000416935.2_Silent_p.I278I|KIRREL_ENST00000392272.2_Silent_p.I275I|KIRREL_ENST00000359209.6_Silent_p.I378I|KIRREL_ENST00000360089.4_Silent_p.I214I	p.I192I			Q96J84	KIRR1_HUMAN			5	588	+	all_hematologic(112;0.0378)		378			Ig-like C2-type 2.		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	c.576C>T	CCDS1172.2																																																																																				0.622	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		18	96	0	0	0	1	0	18	96				
VPS13C	54832	broad.mit.edu	37	15	62173140	62173140	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr15:62173140G>T	ENST00000261517.5	-	72	9863	c.9790C>A	c.(9790-9792)Ctc>Atc	p.L3264I	VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Missense_Mutation_p.L3264I|VPS13C_ENST00000249837.3_Missense_Mutation_p.L3221I|VPS13C_ENST00000395898.3_Missense_Mutation_p.L3221I	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTGAATGAGGACCATAAAA	0.338																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9790-9792)Ctc>Atc		vacuolar protein sorting 13 homolog C (S. cerevisiae)							44.0	47.0	46.0					15																	62173140		2198	4296	6494	SO:0001583	missense	54832				protein localization			g.chr15:62173140G>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9790C>A	15.37:g.62173140G>T	ENSP00000261517:p.Leu3264Ile					VPS13C_ENST00000395898.3_Missense_Mutation_p.L3221I|VPS13C_ENST00000395896.4_Missense_Mutation_p.L3264I|VPS13C_ENST00000249837.3_Missense_Mutation_p.L3221I|VPS13C_ENST00000558919.1_5'UTR	p.L3264I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			72	9863	-			3264						Missense_Mutation	SNP	ENST00000261517.5	37	c.9790C>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524619	0.64747	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D;T	0.83673	-1.75;-1.75;-1.75;-1.37	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.91274	0.7249	M	0.86097	2.795	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;1.0;0.996	D	0.92147	0.5725	10	0.87932	D	0	.	12.7906	0.57530	0.0747:0.0:0.9253:0.0	.	3221;3264;3221;3264	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	I	3221;3264;3264;3264	ENSP00000249837:L3221I;ENSP00000261517:L3264I;ENSP00000379233:L3264I;ENSP00000379235:L3264I	ENSP00000249837:L3221I	L	-	1	0	VPS13C	59960432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.157000	0.50716	2.616000	0.88540	0.650000	0.86243	CTC		0.338	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		3	54	1	0	1	1	1	3	54				
ERMAP	114625	broad.mit.edu	37	1	43296726	43296726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr1:43296726C>T	ENST00000372517.2	+	4	617	c.373C>T	c.(373-375)Cga>Tga	p.R125*	ERMAP_ENST00000372514.3_Nonsense_Mutation_p.R125*|ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000328249.3_Nonsense_Mutation_p.R35*	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	125	Ig-like V-type.		Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGTCTTACCGATGTCTGAT	0.527																																						ENST00000328249.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(103-105)Cga>Tga		erythroblast membrane-associated protein (Scianna blood group)							130.0	111.0	117.0					1																	43296726		2203	4300	6503	SO:0001587	stop_gained	114625					integral to membrane|plasma membrane		g.chr1:43296726C>T	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.373C>T	1.37:g.43296726C>T	ENSP00000361595:p.Arg125*					ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Nonsense_Mutation_p.R125*|ERMAP_ENST00000372517.2_Nonsense_Mutation_p.R125*	p.R35*			Q96PL5	ERMAP_HUMAN			1	1141	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	125		G -> S (in Sc7 antigen).	Ig-like V-type.		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Nonsense_Mutation	SNP	ENST00000372517.2	37	c.103C>T	CCDS475.1	.	.	.	.	.	.	.	.	.	.	C	44	11.038751	0.99507	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	.	.	.	5.1	0.779	0.18550	.	1.955520	0.03116	N	0.163140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	3.21	0.06678	0.3689:0.4277:0.0:0.2034	.	.	.	.	X	125;125;35	.	ENSP00000332439:R35X	R	+	1	2	ERMAP	43069313	0.012000	0.17670	0.014000	0.15608	0.572000	0.35998	-0.144000	0.10280	0.308000	0.22923	0.557000	0.71058	CGA		0.527	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		9	48	0	0	0	1	0	9	48				
CYP2F1	1572	broad.mit.edu	37	19	41622408	41622408	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr19:41622408C>T	ENST00000331105.2	+	3	292	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	74					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGGACCCAGGCGGGTGGTGGT	0.602																																						ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(220-222)Cgg>Tgg		cytochrome P450, family 2, subfamily F, polypeptide 1							116.0	112.0	113.0					19																	41622408		2203	4300	6503	SO:0001583	missense	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622408C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.220C>T	19.37:g.41622408C>T	ENSP00000333534:p.Arg74Trp						p.R74W	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			3	292	+			74					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.220C>T	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634616	0.29068	.	.	ENSG00000197446	ENST00000331105	T	0.12879	2.64	3.91	1.68	0.24146	.	0.312538	0.26719	N	0.022842	T	0.29976	0.0750	M	0.75264	2.295	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.68039	0.954;0.955	T	0.04373	-1.0956	10	0.87932	D	0	.	7.1498	0.25604	0.1696:0.735:0.0:0.0955	.	74;74	Q32MN5;P24903	.;CP2F1_HUMAN	W	74	ENSP00000333534:R74W	ENSP00000333534:R74W	R	+	1	2	CYP2F1	46314248	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	0.285000	0.18883	0.297000	0.22615	-0.282000	0.10007	CGG		0.602	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			23	178	0	0	0	1	0	23	178				
NARS2	79731	broad.mit.edu	37	11	78277282	78277282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr11:78277282C>A	ENST00000281038.5	-	4	784	c.409G>T	c.(409-411)Gag>Tag	p.E137*	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	137					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CGCAGATACTCCAGAGGATGC	0.373																																						ENST00000281038.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27						c.(409-411)Gag>Tag		asparaginyl-tRNA synthetase 2, mitochondrial (putative)	L-Asparagine(DB00174)						82.0	80.0	80.0					11																	78277282		2200	4291	6491	SO:0001587	stop_gained	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78277282C>A	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.409G>T	11.37:g.78277282C>A	ENSP00000281038:p.Glu137*					NARS2_ENST00000528850.1_5'UTR	p.E137*	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN			4	784	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		137					G3V178	Nonsense_Mutation	SNP	ENST00000281038.5	37	c.409G>T	CCDS8261.1	.	.	.	.	.	.	.	.	.	.	C	37	6.027549	0.97216	.	.	ENSG00000137513	ENST00000281038;ENST00000529880	.	.	.	5.13	5.13	0.70059	.	0.050939	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.3883	17.7175	0.88342	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000281038:E137X	E	-	1	0	NARS2	77954930	1.000000	0.71417	0.998000	0.56505	0.592000	0.36648	6.850000	0.75420	2.547000	0.85894	0.655000	0.94253	GAG		0.373	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		5	82	1	0	0.000602214	1	0.000622288	5	82				
TRIOBP	11078	broad.mit.edu	37	22	38165192	38165192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr22:38165192C>T	ENST00000406386.3	+	20	6988	c.6733C>T	c.(6733-6735)Cag>Tag	p.Q2245*	TRIOBP_ENST00000403663.2_Nonsense_Mutation_p.Q532*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2245					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCGCCACAACCAGGTGGGCCT	0.711																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(6733-6735)Cag>Tag		TRIO and F-actin binding protein							11.0	14.0	13.0					22																	38165192		2138	4244	6382	SO:0001587	stop_gained	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38165192C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.6733C>T	22.37:g.38165192C>T	ENSP00000384312:p.Gln2245*					TRIOBP_ENST00000403663.2_Nonsense_Mutation_p.Q532*|RP1-37E16.12_ENST00000455236.1_RNA	p.Q2245*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			20	6988	+	Melanoma(58;0.0574)		2245					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	c.6733C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	49	15.302683	0.99829	.	.	ENSG00000100106	ENST00000406386;ENST00000403663	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.2065	0.89857	0.0:1.0:0.0:0.0	.	.	.	.	X	2245;532	.	ENSP00000386026:Q532X	Q	+	1	0	TRIOBP	36495138	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.496000	0.66918	2.320000	0.78422	0.462000	0.41574	CAG		0.711	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	14	0	0	0	1	0	7	14				
CDH23	64072	broad.mit.edu	37	10	73544680	73544680	+	Silent	SNP	C	C	T			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr10:73544680C>T	ENST00000224721.6	+	42	5555	c.5550C>T	c.(5548-5550)aaC>aaT	p.N1850N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1845	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGACATCAACGACAACGACC	0.597																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5548-5550)aaC>aaT		cadherin-related 23							84.0	89.0	87.0					10																	73544680		2184	4279	6463	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73544680C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5550C>T	10.37:g.73544680C>T							p.N1850N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			42	5555	+			1845			Cadherin 17.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.5550C>T																																																																																					0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		20	43	0	0	0	1	0	20	43				
WDR49	151790	broad.mit.edu	37	3	167217986	167217986	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr3:167217986C>A	ENST00000308378.3	-	14	2235	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Nonsense_Mutation_p.E609*|WDR49_ENST00000476376.1_Nonsense_Mutation_p.E469*	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	644										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CGCTCTTCCTCTGGTTCTTTC	0.428																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(1930-1932)Gag>Tag		WD repeat domain 49							141.0	158.0	152.0					3																	167217986		2203	4300	6503	SO:0001587	stop_gained	151790							g.chr3:167217986C>A	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1930G>T	3.37:g.167217986C>A	ENSP00000311343:p.Glu644*					WDR49_ENST00000453925.2_Nonsense_Mutation_p.E609*|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Nonsense_Mutation_p.E469*	p.E644*	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			14	2235	-			644					Q8N297	Nonsense_Mutation	SNP	ENST00000308378.3	37	c.1930G>T	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.90|15.90	2.970002|2.970002	0.53614|0.53614	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	.|.	.|.	.|.	5.13|5.13	3.3|3.3	0.37823|0.37823	.|.	0.444046|.	0.19821|.	N|.	0.105320|.	.|T	.|0.63070	.|0.2480	.|.	.|.	.|.	0.40799|0.40799	D|D	0.983324|0.983324	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60826	.|-0.7186	.|4	0.54805|.	T|.	0.06|.	.|.	12.9061|12.9061	0.58154|0.58154	0.0:0.6579:0.3421:0.0|0.0:0.6579:0.3421:0.0	.|.	.|.	.|.	.|.	X|H	644;469;609|620	.|.	ENSP00000311343:E644X|.	E|Q	-|-	1|3	0|2	WDR49|WDR49	168700680|168700680	0.428000|0.428000	0.25522|0.25522	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	0.878000|0.878000	0.28126|0.28126	0.518000|0.518000	0.28383|0.28383	0.467000|0.467000	0.42956|0.42956	GAG|CAG		0.428	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		47	206	1	0	2.52991e-16	1	2.70438e-16	47	206				
ZNF774	342132	broad.mit.edu	37	15	90904247	90904247	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr15:90904247G>A	ENST00000354377.3	+	4	1370	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	395					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)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGCACCAACGAATCCACACC	0.498																																						ENST00000354377.3																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14						c.(1183-1185)cGa>cAa		zinc finger protein 774							72.0	67.0	68.0					15																	90904247		2199	4298	6497	SO:0001583	missense	342132				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90904247G>A	BC067279	CCDS32330.1	15q26.1	2013-01-08				ENSG00000196391		"""Zinc fingers, C2H2-type"""	33108	protein-coding gene	gene with protein product							Standard	NM_001004309		Approved	MGC75360	uc002bpk.4	Q6NX45		ENST00000354377.3:c.1184G>A	15.37:g.90904247G>A	ENSP00000346348:p.Arg395Gln					ZNF774_ENST00000379090.5_Intron	p.R395Q	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		4	1370	+	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		395					A8K020	Missense_Mutation	SNP	ENST00000354377.3	37	c.1184G>A	CCDS32330.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273349	0.80580	.	.	ENSG00000196391	ENST00000354377	T	0.24723	1.84	5.51	4.6	0.57074	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32028	N	0.006685	T	0.46946	0.1419	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.46062	-0.9218	10	0.66056	D	0.02	.	12.3334	0.55051	0.083:0.0:0.917:0.0	.	395	Q6NX45	ZN774_HUMAN	Q	395	ENSP00000346348:R395Q	ENSP00000346348:R395Q	R	+	2	0	ZNF774	88705251	0.073000	0.21202	0.018000	0.16275	0.823000	0.46562	1.995000	0.40767	1.334000	0.45468	-0.254000	0.11334	CGA		0.498	ZNF774-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418048.1	NM_001004309		27	79	0	0	0	1	0	27	79				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							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)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	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.11098863A>G												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	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	45	0	0	0	1	0	3	45				
SPINK9	643394	broad.mit.edu	37	5	147718067	147718067	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr5:147718067A>C	ENST00000377906.1	+	3	169	c.114A>C	c.(112-114)ttA>ttC	p.L38F	SPINK9_ENST00000511717.2_Missense_Mutation_p.L59F|RP11-373N22.3_ENST00000501695.3_RNA	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	38	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAAAAGTTACCACCAGGAC	0.308																																						ENST00000511717.2																			0				ovary(1)|urinary_tract(1)	2						c.(175-177)ttA>ttC		serine peptidase inhibitor, Kazal type 9							86.0	90.0	88.0					5																	147718067		2202	4299	6501	SO:0001583	missense	643394					extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147718067A>C	AY396740	CCDS34269.1	5q33.1	2011-08-31				ENSG00000204909		"""Serine peptidase inhibitors, Kazal type"""	32951	protein-coding gene	gene with protein product		613511					Standard	NM_001040433		Approved		uc003lpe.1	Q5DT21		ENST00000377906.1:c.114A>C	5.37:g.147718067A>C	ENSP00000367139:p.Leu38Phe					RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000377906.1_Missense_Mutation_p.L38F	p.L59F			Q5DT21	ISK9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	447	+			38			Kazal-like.		B2RPN9	Missense_Mutation	SNP	ENST00000377906.1	37	c.177A>C	CCDS34269.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.804728	0.50315	.	.	ENSG00000204909	ENST00000511717;ENST00000377906	T;T	0.74947	-0.89;-0.89	4.1	4.1	0.47936	Proteinase inhibitor I1, Kazal (2);	0.702810	0.11098	N	0.599992	T	0.73916	0.3648	.	.	.	0.09310	N	1	D	0.58970	0.984	P	0.59643	0.861	T	0.59757	-0.7394	9	0.10111	T	0.7	-3.3487	9.6761	0.40041	1.0:0.0:0.0:0.0	.	38	Q5DT21	ISK9_HUMAN	F	59;38	ENSP00000427240:L59F;ENSP00000367139:L38F	ENSP00000367139:L38F	L	+	3	2	SPINK9	147698260	0.001000	0.12720	0.549000	0.28204	0.022000	0.10575	0.705000	0.25675	1.845000	0.53610	0.528000	0.53228	TTA		0.308	SPINK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373382.1	NM_001040433		14	33	0	0	0	1	0	14	33				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	32	0	0	0	1	0	5	32				
SLC38A8	146167	broad.mit.edu	37	16	84075582	84075582	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr16:84075582C>T	ENST00000299709.3	-	1	180	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	RNA5SP432_ENST00000362480.1_RNA	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	61					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACCAGCTCCACCAGGAAGGCA	0.632																																						ENST00000299709.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(181-183)Gtg>Atg		solute carrier family 38, member 8							72.0	81.0	78.0					16																	84075582		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84075582C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.181G>A	16.37:g.84075582C>T	ENSP00000299709:p.Val61Met						p.V61M	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN			1	180	-			61						Missense_Mutation	SNP	ENST00000299709.3	37	c.181G>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473459	0.26423	.	.	ENSG00000166558	ENST00000299709	T	0.02280	4.36	4.91	2.57	0.30868	.	0.310296	0.30302	N	0.009935	T	0.02970	0.0088	L	0.39085	1.19	0.51233	D	0.999912	P	0.46578	0.88	B	0.44133	0.442	T	0.60929	-0.7165	10	0.44086	T	0.13	.	12.1404	0.53994	0.0:0.8338:0.0:0.1662	.	61	A6NNN8	S38A8_HUMAN	M	61	ENSP00000299709:V61M	ENSP00000299709:V61M	V	-	1	0	SLC38A8	82633083	1.000000	0.71417	0.997000	0.53966	0.911000	0.54048	2.852000	0.48310	1.067000	0.40740	0.650000	0.86243	GTG		0.632	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		33	119	0	0	0	1	0	33	119				
ASIC4	55515	broad.mit.edu	37	2	220402012	220402012	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr2:220402012C>T	ENST00000347842.3	+	7	1708	c.1694C>T	c.(1693-1695)aCg>aTg	p.T565M	ASIC4_ENST00000358078.4_Missense_Mutation_p.T584M	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	565					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										AGCATCCTCACGTTGCTGGAG	0.657																																						ENST00000358078.4																			0											c.(1750-1752)aCg>aTg		acid-sensing (proton-gated) ion channel family member 4							38.0	34.0	35.0					2																	220402012		2203	4300	6503	SO:0001583	missense	55515					integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	g.chr2:220402012C>T	AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.1694C>T	2.37:g.220402012C>T	ENSP00000326627:p.Thr565Met					ASIC4_ENST00000347842.3_Missense_Mutation_p.T565M	p.T584M			Q96FT7	ACCN4_HUMAN			8	1765	+			565					Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Missense_Mutation	SNP	ENST00000347842.3	37	c.1751C>T	CCDS2442.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.825060	0.71143	.	.	ENSG00000072182	ENST00000347842;ENST00000358078	T;T	0.72615	-0.67;-0.67	5.32	5.32	0.75619	.	0.051662	0.85682	D	0.000000	D	0.88757	0.6523	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91584	0.5281	10	0.87932	D	0	-18.7771	17.5723	0.87937	0.0:1.0:0.0:0.0	.	565;584	Q96FT7;Q96FT7-4	ACCN4_HUMAN;.	M	565;584	ENSP00000326627:T565M;ENSP00000350786:T584M	ENSP00000326627:T565M	T	+	2	0	ACCN4	220110256	1.000000	0.71417	0.958000	0.39756	0.273000	0.26683	7.775000	0.85489	2.659000	0.90383	0.655000	0.94253	ACG		0.657	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1	NM_018674		9	30	0	0	0	1	0	9	30				
KRT27	342574	broad.mit.edu	37	17	38938515	38938515	+	Silent	SNP	G	G	A			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr17:38938515G>A	ENST00000301656.3	-	1	271	c.231C>T	c.(229-231)caC>caT	p.H77H		NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGAGGAGGCCGTGCTCATTCC	0.597																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(229-231)caC>caT		keratin 27							135.0	118.0	124.0					17																	38938515		2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38938515G>A	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.231C>T	17.37:g.38938515G>A							p.H77H	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			1	271	-		Breast(137;0.000812)	77			Gly-rich.|Head.			Silent	SNP	ENST00000301656.3	37	c.231C>T	CCDS11375.1																																																																																				0.597	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		31	93	0	0	0	1	0	31	93				
PDE4A	5141	broad.mit.edu	37	19	10561280	10561280	+	Splice_Site	SNP	C	C	T	rs201436121		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr19:10561280C>T	ENST00000352831.6	+	5	732	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	PDE4A_ENST00000592685.1_Splice_Site_p.R186W|PDE4A_ENST00000293683.5_Splice_Site_p.R182W|PDE4A_ENST00000344979.3_5'Flank|PDE4A_ENST00000440014.2_Splice_Site_p.R147W|PDE4A_ENST00000380702.2_Splice_Site_p.R186W	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	208					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	TTTCTGCAGGCGGTCCCCGCT	0.627																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.e6-1		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						11.0	15.0	14.0					19																	10561280		1564	3567	5131	SO:0001630	splice_region_variant	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10561280C>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.621-1C>T	19.37:g.10561280C>T						PDE4A_ENST00000352831.6_Splice_Site_p.R208_splice|PDE4A_ENST00000293683.5_Splice_Site_p.R182_splice|PDE4A_ENST00000592685.1_Splice_Site_p.R186_splice|PDE4A_ENST00000440014.2_Splice_Site_p.R147_splice	p.R186_splice			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		6	556	+			208					O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Splice_Site	SNP	ENST00000352831.6	37	c.554_splice	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080803	0.36758	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014	T;T;T;T	0.71817	-0.6;-0.57;-0.58;-0.57	4.43	-0.879	0.10613	.	1.125910	0.06872	N	0.801005	T	0.74122	0.3675	M	0.87827	2.91	0.44908	D	0.997927	B;B;B	0.27351	0.054;0.176;0.056	B;B;B	0.23716	0.017;0.048;0.022	T	0.71027	-0.4711	10	0.87932	D	0	.	12.3236	0.54999	0.5783:0.4217:0.0:0.0	.	147;182;208	P27815-6;P27815-2;P27815	.;.;PDE4A_HUMAN	W	186;208;182;147	ENSP00000370078:R186W;ENSP00000270474:R208W;ENSP00000293683:R182W;ENSP00000394754:R147W	ENSP00000293683:R182W	R	+	1	2	PDE4A	10422280	0.715000	0.27946	0.985000	0.45067	0.714000	0.41099	-0.403000	0.07214	0.098000	0.17522	-0.196000	0.12772	CGG		0.627	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1		Missense_Mutation	6	15	0	0	0	1	0	6	15				
CYP2W1	54905	broad.mit.edu	37	7	1026363	1026363	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr7:1026363C>T	ENST00000308919.7	+	5	762	c.749C>T	c.(748-750)gCg>gTg	p.A250V	CYP2W1_ENST00000340150.6_Missense_Mutation_p.A194V	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	250					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTCCTGGAGGCGCGGAGGCCC	0.672																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(580-582)gCg>gTg		cytochrome P450, family 2, subfamily W, polypeptide 1							26.0	29.0	28.0					7																	1026363		2197	4298	6495	SO:0001583	missense	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1026363C>T	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.749C>T	7.37:g.1026363C>T	ENSP00000310149:p.Ala250Val					CYP2W1_ENST00000308919.7_Missense_Mutation_p.A250V	p.A194V			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	5	603	+		Ovarian(82;0.0112)	250						Missense_Mutation	SNP	ENST00000308919.7	37	c.581C>T	CCDS5319.2	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476010	0.26511	.	.	ENSG00000073067	ENST00000308919;ENST00000340150;ENST00000415893	T;T;T	0.68765	-0.35;-0.35;-0.35	4.05	-1.45	0.08828	.	0.834169	0.11118	N	0.597694	T	0.53012	0.1770	M	0.62723	1.935	0.09310	N	1	B;P	0.43633	0.29;0.813	B;B	0.33568	0.066;0.166	T	0.49370	-0.8947	10	0.87932	D	0	.	4.7088	0.12863	0.4926:0.2884:0.0:0.219	.	194;250	A6NJ10;Q8TAV3	.;CP2W1_HUMAN	V	250;194;24	ENSP00000310149:A250V;ENSP00000344178:A194V;ENSP00000392581:A24V	ENSP00000310149:A250V	A	+	2	0	CYP2W1	992889	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.105000	0.03323	-0.173000	0.10761	-1.156000	0.01807	GCG		0.672	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		10	21	0	0	0	1	0	10	21				
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	lincRNA	INS	-	-	A	rs200536781		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282																																						ENST00000438000.1																			0																																																			0							g.chr1:143217265_143217266insA																													1.37:g.143217275_143217275dupA														0	59	+									RNA	INS	ENST00000438000.1	37																																																																																						0.282	RP11-782C8.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037560.1			5	11						5	11	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-	rs367732188		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)		p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572																																						ENST00000423186.1																			2	Deletion - Frameshift(2)	p.E82fs*32(2)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5												96,356		38,20,168							0.0			1	208,1036		88,32,502	no	frameshift	STAG3L2	NM_001025202.2		126,52,670	A1A1,A1R,RR		16.7203,21.2389,17.9245				304,1392						0					nucleus	binding	g.chr7:74300557_74300564delAGAGCTCC			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300557_74300564delAGAGCTCC										P0CL84	ST3L2_HUMAN			0	573_580	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.572	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		3	4						3	4	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		7	7						7	7	---	---	---	---
MIRLET7DHG	158257	broad.mit.edu	37	9	96941100	96941100	+	lincRNA	DEL	A	A	-			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr9:96941100delA	ENST00000602652.1	+	0	2870				RP11-2B6.3_ENST00000602703.1_lincRNA|MIRLET7F1_ENST00000362202.1_RNA|MIRLET7A1_ENST00000362295.2_RNA|MIRLET7DHG_ENST00000416309.2_lincRNA|MIRLET7D_ENST00000362263.1_RNA																							GACCAGCAAGAAAAAAAAAAT	0.378																																						ENST00000416309.2																			0																				45.0	43.0	44.0					9																	96941100		1566	3582	5148			0							g.chr9:96941100delA																													9.37:g.96941100delA						RP11-2B6.3_ENST00000602703.1_lincRNA		NR_046163.1						0	164	-									RNA	DEL	ENST00000602652.1	37																																																																																						0.378	RP11-2B6.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467606.1			4	5						4	5	---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-	rs144071785		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr18:34261459_34261460delAG	ENST00000359247.4	+	12	1371_1372	c.1371_1372delAG	c.(1369-1374)gcagagfs	p.E458fs	FHOD3_ENST00000590592.1_Frame_Shift_Del_p.E633fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.E420fs|FHOD3_ENST00000257209.4_Frame_Shift_Del_p.E458fs|FHOD3_ENST00000591635.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	458					actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.46																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(1369-1374)gcagfs		formin homology 2 domain containing 3																																				SO:0001589	frameshift_variant	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34261459_34261460delAG	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1371_1372delAG	18.37:g.34261469_34261470delAG	ENSP00000352186:p.Glu458fs					FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs	p.AE457fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			12	1493_1494	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	457					A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	ENST00000359247.4	37	c.1371_1372delAG																																																																																					0.460	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		7	114						7	114	---	---	---	---
