#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
TLN1	7094	broad.mit.edu	37	9	35720836	35720836	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr9:35720836G>A	ENST00000314888.9	-	11	1532	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	TLN1_ENST00000540444.1_Silent_p.A393A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	393	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGATGTAGCCGGCAATGAGCT	0.507																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(1177-1179)gcC>gcT		talin 1							160.0	135.0	144.0					9																	35720836		2203	4300	6503	SO:0001819	synonymous_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35720836G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1179C>T	9.37:g.35720836G>A						TLN1_ENST00000540444.1_Silent_p.A393A	p.A393A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		11	1532	-	all_epithelial(49;0.167)		393			FERM.|Interaction with LAYN (By similarity).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.1179C>T	CCDS35009.1																																																																																				0.507	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		32	130	0	0	0	1	0	32	130				
CCDC108	255101	broad.mit.edu	37	2	219878294	219878294	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr2:219878294C>T	ENST00000341552.5	-	23	3876	c.3793G>A	c.(3793-3795)Ggt>Agt	p.G1265S	CCDC108_ENST00000441968.1_Missense_Mutation_p.G1265S|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.G1265S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1265						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATCAGTACCGATGAACAGG	0.542																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(3793-3795)Ggt>Agt		coiled-coil domain containing 108							29.0	27.0	28.0					2																	219878294		2202	4298	6500	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219878294C>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.3793G>A	2.37:g.219878294C>T	ENSP00000340776:p.Gly1265Ser					CCDC108_ENST00000441968.1_Missense_Mutation_p.G1265S|CCDC108_ENST00000453220.1_Missense_Mutation_p.G1265S|AC097468.4_ENST00000441450.1_RNA	p.G1265S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	23	3876	-		Renal(207;0.0915)	1265					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.3793G>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843753	0.91197	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.18657	2.2;2.2;2.2	4.58	4.58	0.56647	.	0.000000	0.42548	D	0.000688	T	0.41442	0.1159	M	0.74258	2.255	0.80722	D	1	D	0.65815	0.995	P	0.56398	0.797	T	0.42015	-0.9476	10	0.62326	D	0.03	-27.7294	16.1351	0.81476	0.0:1.0:0.0:0.0	.	1265	Q6ZU64	CC108_HUMAN	S	1265	ENSP00000340776:G1265S;ENSP00000413377:G1265S;ENSP00000409117:G1265S	ENSP00000340776:G1265S	G	-	1	0	CCDC108	219586538	0.997000	0.39634	0.936000	0.37596	0.952000	0.60782	3.724000	0.54962	2.372000	0.80975	0.650000	0.86243	GGT		0.542	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		3	12	0	0	0	1	0	3	12				
KRT20	54474	broad.mit.edu	37	17	39041252	39041252	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr17:39041252G>A	ENST00000167588.3	-	1	227	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	62	Head.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				ACAGGTCCCCGCCGCCTGTGA	0.577																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(184-186)ggC>ggT		keratin 20							79.0	73.0	75.0					17																	39041252		2203	4300	6503	SO:0001819	synonymous_variant	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39041252G>A	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.186C>T	17.37:g.39041252G>A							p.G62G	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			1	227	-		Breast(137;0.000301)|Ovarian(249;0.15)	62			Head.		B2R6W7	Silent	SNP	ENST00000167588.3	37	c.186C>T	CCDS11379.1																																																																																				0.577	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			4	180	0	0	0	1	0	4	180				
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	ENST00000330062.3				Dom	yes		15	15q26.1	3418	M	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """			M			GBM		138	Substitution - Missense(138)	p.R172K(116)|p.R172M(21)|p.R172N(1)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109						c.(514-516)aGg>aAg		isocitrate dehydrogenase 2 (NADP+), mitochondrial							85.0	81.0	82.0					15																	90631838		2200	4298	6498	SO:0001583	missense	3418				2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	g.chr15:90631838C>T		CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys					IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	p.R172K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)		4	628	-	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		172					B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	c.515G>A	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1			44	43	0	0	0	1	0	44	43				
LUZP4	51213	broad.mit.edu	37	X	114541285	114541285	+	Missense_Mutation	SNP	T	T	G			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chrX:114541285T>G	ENST00000371920.3	+	4	865	c.858T>G	c.(856-858)gaT>gaG	p.D286E	LUZP4_ENST00000451986.2_Missense_Mutation_p.D204E	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	286						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CTGAGAGAGATCTCATAAATC	0.418																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(856-858)gaT>gaG		leucine zipper protein 4							77.0	70.0	72.0					X																	114541285		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114541285T>G	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.858T>G	X.37:g.114541285T>G	ENSP00000360988:p.Asp286Glu					LUZP4_ENST00000451986.2_Missense_Mutation_p.D204E	p.D286E	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			4	865	+			286					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.858T>G	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	t	9.599	1.128086	0.20959	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	T;T	0.51817	0.69;1.38	2.72	1.52	0.23074	.	.	.	.	.	T	0.32041	0.0816	N	0.08118	0	0.09310	N	1	D;D	0.58268	0.974;0.982	P;P	0.54026	0.74;0.702	T	0.11743	-1.0575	9	0.18276	T	0.48	.	4.4514	0.11623	0.0:0.3236:0.0:0.6764	.	204;286	B3KSD6;Q9P127	.;LUZP4_HUMAN	E	204;286	ENSP00000411212:D204E;ENSP00000360988:D286E	ENSP00000360988:D286E	D	+	3	2	LUZP4	114447541	0.002000	0.14202	0.006000	0.13384	0.104000	0.19210	0.951000	0.29135	0.218000	0.20820	0.143000	0.16000	GAT		0.418	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		4	135	0	0	0	1	0	4	135				
PRDM10	56980	broad.mit.edu	37	11	129812402	129812402	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:129812402C>A	ENST00000360871.3	-	7	1116	c.885G>T	c.(883-885)gaG>gaT	p.E295D	PRDM10_ENST00000423662.2_Missense_Mutation_p.E209D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E209D|PRDM10_ENST00000528746.1_Missense_Mutation_p.E269D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E209D|PRDM10_ENST00000358825.5_Missense_Mutation_p.E295D	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	295	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCAGGTTCTGCTCCAGGTGAT	0.473																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(883-885)gaG>gaT		PR domain containing 10							139.0	132.0	134.0					11																	129812402		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129812402C>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.885G>T	11.37:g.129812402C>A	ENSP00000354118:p.Glu295Asp					PRDM10_ENST00000528746.1_Missense_Mutation_p.E269D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E209D|PRDM10_ENST00000360871.3_Missense_Mutation_p.E295D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E209D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E209D	p.E295D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	7	1116	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	295			SET.		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.885G>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849858	0.71603	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;2.31	5.39	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.60894	0.2304	M	0.73319	2.225	0.46185	D	0.998912	P;D;P;P;P;P;P	0.52996	0.841;0.957;0.901;0.841;0.901;0.781;0.901	P;P;P;P;P;P;P	0.62560	0.75;0.904;0.873;0.75;0.873;0.823;0.873	T	0.62666	-0.6806	10	0.87932	D	0	-38.0766	9.3005	0.37842	0.0:0.7044:0.0:0.2956	.	209;295;295;295;209;209;209	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	D	295;209;295;209;269;209;12	ENSP00000351686:E295D;ENSP00000302669:E209D;ENSP00000354118:E295D;ENSP00000398431:E209D;ENSP00000431262:E269D;ENSP00000432237:E209D;ENSP00000435940:E12D	ENSP00000302669:E209D	E	-	3	2	PRDM10	129317612	0.997000	0.39634	1.000000	0.80357	0.831000	0.47069	0.533000	0.23082	0.763000	0.33175	-0.221000	0.12465	GAG		0.473	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		4	254	1	0	0.150653	1	0.150653	4	254				
UNK	85451	broad.mit.edu	37	17	73814838	73814838	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr17:73814838G>A	ENST00000589666.1	+	11	1597	c.1487G>A	c.(1486-1488)gGc>gAc	p.G496D	UNK_ENST00000293218.3_Missense_Mutation_p.G572D|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	496							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCGTCCCCGGCATGAATGCA	0.597																																						ENST00000293218.3																			0				cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1714-1716)gGc>gAc		unkempt family zinc finger							58.0	62.0	61.0					17																	73814838		2027	4190	6217	SO:0001583	missense	85451						nucleic acid binding|zinc ion binding	g.chr17:73814838G>A	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1487G>A	17.37:g.73814838G>A	ENSP00000464893:p.Gly496Asp					UNK_ENST00000589666.1_Missense_Mutation_p.G496D	p.G572D			Q9C0B0	UNK_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)		12	1715	+			496						Missense_Mutation	SNP	ENST00000589666.1	37	c.1715G>A	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	G	32	5.117702	0.94385	.	.	ENSG00000132478	ENST00000293218	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66192	-0.5985	9	0.13108	T	0.6	-19.3774	19.5183	0.95174	0.0:0.0:1.0:0.0	.	496	Q9C0B0	UNK_HUMAN	D	572	.	ENSP00000293218:G572D	G	+	2	0	UNK	71326433	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.350000	0.73017	2.613000	0.88420	0.467000	0.42956	GGC		0.597	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419		4	61	0	0	0	1	0	4	61				
ATG4A	115201	broad.mit.edu	37	X	107381181	107381181	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chrX:107381181G>A	ENST00000372232.3	+	8	854	c.695G>A	c.(694-696)gGc>gAc	p.G232D	ATG4A_ENST00000372254.3_Missense_Mutation_p.G208D|ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000345734.3_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	232					autophagy (GO:0006914)|protein transport (GO:0015031)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	cysteine-type peptidase activity (GO:0008234)	p.G232D(2)		endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CTTCGCCTGGGCATAAACCAA	0.522																																						ENST00000372232.3																			2	Substitution - Missense(2)	p.G232D(2)	prostate(2)	endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						c.(694-696)gGc>gAc		autophagy related 4A, cysteine peptidase							220.0	194.0	203.0					X																	107381181		2203	4300	6503	SO:0001583	missense	115201				autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	g.chrX:107381181G>A	AJ320508	CCDS14538.1, CCDS14539.1	Xq22.1-q22.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000101844	ENSG00000101844			16489	protein-coding gene	gene with protein product		300663	"""AUT-like 2, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog A (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog A (S. cerevisiae)"""	AUTL2, APG4A		12446702, 12473658	Standard	NM_052936		Approved		uc004enr.3	Q8WYN0	OTTHUMG00000022176	ENST00000372232.3:c.695G>A	X.37:g.107381181G>A	ENSP00000361306:p.Gly232Asp					ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.G208D|ATG4A_ENST00000345734.3_Intron	p.G232D	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN			8	854	+			232					A6NCH2|B2RAZ7|D3DUY0|O95534|Q5JYY9|Q5JYZ0|Q86VE5|Q96KQ0|Q96KQ1	Missense_Mutation	SNP	ENST00000372232.3	37	c.695G>A	CCDS14538.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.464901|4.464901	0.84425|0.84425	.|.	.|.	ENSG00000101844|ENSG00000101844	ENST00000394892|ENST00000372232;ENST00000372254;ENST00000457035	.|D;D	.|0.84442	.|-1.85;-1.63	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95481|0.95481	0.8532|0.8532	H|H	0.97540|0.97540	4.025|4.025	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.97312|0.97312	0.9938|0.9938	5|10	.|0.87932	.|D	.|0	-8.3719|-8.3719	18.0738|18.0738	0.89421|0.89421	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|232	.|Q8WYN0	.|ATG4A_HUMAN	T|D	205|232;208;155	.|ENSP00000361306:G232D;ENSP00000361328:G208D	.|ENSP00000341833:G181D	A|G	+|+	1|2	0|0	ATG4A|ATG4A	107267837|107267837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.842000|7.842000	0.86851|0.86851	2.204000|2.204000	0.70986|0.70986	0.600000|0.600000	0.82982|0.82982	GCA|GGC		0.522	ATG4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057860.1	NM_052936		5	295	0	0	0	1	0	5	295				
MLST8	64223	broad.mit.edu	37	16	2258498	2258498	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr16:2258498C>T	ENST00000569417.1	+	8	1100	c.746C>T	c.(745-747)aCg>aTg	p.T249M	MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000565250.1_Missense_Mutation_p.T249M|MLST8_ENST00000564088.1_Missense_Mutation_p.T249M|MLST8_ENST00000397124.1_Missense_Mutation_p.T249M|MLST8_ENST00000301724.10_Missense_Mutation_p.T249M|MLST8_ENST00000382450.4_Missense_Mutation_p.T248M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	249					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						ATCTGGAGGACGTCCAACTTC	0.662																																						ENST00000569417.1																			0				large_intestine(3)|lung(2)|skin(1)	6						c.(745-747)aCg>aTg		MTOR associated protein, LST8 homolog (S. cerevisiae)							62.0	76.0	71.0					16																	2258498		2156	4254	6410	SO:0001583	missense	64223				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding	g.chr16:2258498C>T		CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.746C>T	16.37:g.2258498C>T	ENSP00000456405:p.Thr249Met					MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000565250.1_Missense_Mutation_p.T249M|MLST8_ENST00000564088.1_Missense_Mutation_p.T249M|MLST8_ENST00000382450.4_Missense_Mutation_p.T248M|MLST8_ENST00000397124.1_Missense_Mutation_p.T249M|MLST8_ENST00000301724.10_Missense_Mutation_p.T249M	p.T249M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN			8	1100	+			249					B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	ENST00000569417.1	37	c.746C>T	CCDS10462.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257405	0.80246	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124	T;T	0.42131	1.53;0.98	4.83	3.85	0.44370	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	L	0.35414	1.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.929	T	0.52109	-0.8619	10	0.59425	D	0.04	-17.1635	12.9536	0.58415	0.1633:0.8367:0.0:0.0	.	183;249	Q9BVC4-3;Q9BVC4	.;LST8_HUMAN	M	249	ENSP00000301724:T249M;ENSP00000380313:T249M	ENSP00000301724:T249M	T	+	2	0	MLST8	2198499	1.000000	0.71417	0.908000	0.35775	0.918000	0.54935	7.766000	0.85320	0.980000	0.38523	0.313000	0.20887	ACG		0.662	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250763.2	NM_022372		7	195	0	0	0	1	0	7	195				
DISP2	85455	broad.mit.edu	37	15	40655853	40655853	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr15:40655853G>A	ENST00000267889.3	+	2	234	c.147G>A	c.(145-147)gaG>gaA	p.E49E		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	49					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGCCCCCTGAGGCAAGCCCAG	0.622																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(145-147)gaG>gaA		dispatched homolog 2 (Drosophila)							89.0	104.0	99.0					15																	40655853		2203	4300	6503	SO:0001819	synonymous_variant	85455				smoothened signaling pathway	integral to membrane		g.chr15:40655853G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.147G>A	15.37:g.40655853G>A							p.E49E	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	2	234	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	49					Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	c.147G>A	CCDS10056.1																																																																																				0.622	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		28	120	0	0	0	1	0	28	120				
MLLT3	4300	broad.mit.edu	37	9	20414313	20414313	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(529-531)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							22.0	31.0	28.0					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414313G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531C>T	9.37:g.20414313G>A						MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S177S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	817	-			177			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.531C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	247	0	0	0	1	0	7	247				
PHYH	5264	broad.mit.edu	37	10	13337514	13337514	+	Missense_Mutation	SNP	G	G	A	rs141855372	byFrequency	TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr10:13337514G>A	ENST00000263038.4	-	3	285	c.227C>T	c.(226-228)gCc>gTc	p.A76V	PHYH_ENST00000396920.3_Missense_Mutation_p.A57V|PHYH_ENST00000396913.2_5'UTR	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	76					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTGAATATCGGCATCAGGTAC	0.353																																						ENST00000396920.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25						c.(169-171)gCc>gTc		phytanoyl-CoA 2-hydroxylase	Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	G	,VAL/ALA	2,4400	4.2+/-10.8	0,2,2199	85.0	86.0	86.0		,227	3.6	0.6	10	dbSNP_134	86	0,8600		0,0,4300	no	utr-5,missense	PHYH	NM_001037537.1,NM_006214.3	,64	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	,benign	,76/339	13337514	2,13000	2201	4300	6501	SO:0001583	missense	5264				fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	g.chr10:13337514G>A		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.227C>T	10.37:g.13337514G>A	ENSP00000263038:p.Ala76Val					PHYH_ENST00000396913.2_5'UTR|PHYH_ENST00000263038.4_Missense_Mutation_p.A76V	p.A57V			O14832	PAHX_HUMAN			3	574	-		Ovarian(717;0.0448)	76					A8MTS8|B1ALH5	Missense_Mutation	SNP	ENST00000263038.4	37	c.170C>T	CCDS7097.1	.	.	.	.	.	.	.	.	.	.	G	5.092	0.202592	0.09652	4.54E-4	0.0	ENSG00000107537	ENST00000263038;ENST00000396920;ENST00000479604	D;D;D	0.91068	-2.78;-2.78;-2.78	5.63	3.59	0.41128	.	0.319277	0.34046	N	0.004310	D	0.88198	0.6372	M	0.69823	2.125	0.28386	N	0.919312	B;B	0.23249	0.012;0.082	B;B	0.24155	0.035;0.051	T	0.80246	-0.1462	10	0.44086	T	0.13	-5.2325	8.4403	0.32812	0.0743:0.0:0.3547:0.571	.	57;76	B1ALH6;O14832	.;PAHX_HUMAN	V	76;57;76	ENSP00000263038:A76V;ENSP00000380126:A57V;ENSP00000420117:A76V	ENSP00000263038:A76V	A	-	2	0	PHYH	13377520	0.955000	0.32602	0.566000	0.28421	0.012000	0.07955	1.295000	0.33377	0.554000	0.29061	-0.328000	0.08392	GCC		0.353	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046845.2			5	322	0	0	0	1	0	5	322				
RP11-423O2.5	0	broad.mit.edu	37	1	142803702	142803702	+	lincRNA	SNP	A	A	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:142803702A>T	ENST00000423385.1	-	0	1263																											ccatcataacatctgtgttcc	0.338																																						ENST00000423385.1																			0																																																			0							g.chr1:142803702A>T																													1.37:g.142803702A>T														0	1263	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.338	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	51	0	0	0	1	0	4	51				
PDE4D	5144	broad.mit.edu	37	5	59284439	59284439	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:59284439G>A	ENST00000502484.2	-	3	371	c.148C>T	c.(148-150)Cct>Tct	p.P50S	PDE4D_ENST00000546160.1_Missense_Mutation_p.P50S	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AAGGCGAGAGGGGGAAGCTGA	0.488																																						ENST00000502484.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(148-150)Cct>Tct		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						164.0	151.0	155.0					5																	59284439		1568	3582	5150	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59284439G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000502484.2:c.148C>T	5.37:g.59284439G>A	ENSP00000423094:p.Pro50Ser					PDE4D_ENST00000546160.1_Missense_Mutation_p.P50S	p.P50S	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	3	371	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0			Pro-rich.		O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000502484.2	37	c.148C>T	CCDS54859.1	.	.	.	.	.	.	.	.	.	.	G	35	5.478203	0.96291	.	.	ENSG00000113448	ENST00000502484;ENST00000546160;ENST00000505507;ENST00000514552	T;T	0.70045	-0.45;-0.45	5.71	5.71	0.89125	.	.	.	.	.	D	0.83769	0.5326	.	.	.	0.45172	D	0.998185	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.986	D	0.84972	0.0883	8	0.72032	D	0.01	.	19.8467	0.96710	0.0:0.0:1.0:0.0	.	50;50	D6RIG1;Q08499-11	.;.	S	50	ENSP00000423094:P50S;ENSP00000442734:P50S	ENSP00000423094:P50S	P	-	1	0	PDE4D	59320196	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.356000	0.90085	2.696000	0.92011	0.585000	0.79938	CCT		0.488	PDE4D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368094.3			104	186	0	0	0	1	0	104	186				
IGLV9-49	28773	broad.mit.edu	37	22	22697799	22697799	+	RNA	SNP	A	A	C			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr22:22697799A>C	ENST00000427632.2	+	0	124									immunoglobulin lambda variable 9-49																		CACCTTCTGCATCAGCCTCCC	0.597											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000427632.2																			0																				30.0	32.0	32.0					22																	22697799		1998	4180	6178			0							g.chr22:22697799A>C	Z73675		22q11.2	2012-02-08			ENSG00000223350	ENSG00000223350		"""Immunoglobulins / IGL locus"""	5933	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151045		22.37:g.22697799A>C			OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	758									0	124	+									RNA	SNP	ENST00000427632.2	37																																																																																						0.597	IGLV9-49-001	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321105.1	NG_000002		4	65	0	0	0	1	0	4	65				
MORC2	22880	broad.mit.edu	37	22	31332565	31332565	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr22:31332565T>C	ENST00000397641.3	-	17	2078	c.1670A>G	c.(1669-1671)cAg>cGg	p.Q557R	MORC2_ENST00000215862.4_Missense_Mutation_p.Q495R|MORC2_ENST00000469915.1_5'UTR			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	557						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTTCTCTTCCTGCGTCTTCAT	0.517																																						ENST00000215862.4																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(1483-1485)cAg>cGg		MORC family CW-type zinc finger 2							193.0	168.0	176.0					22																	31332565		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31332565T>C	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.1670A>G	22.37:g.31332565T>C	ENSP00000380763:p.Gln557Arg					MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000397641.2_Missense_Mutation_p.Q557R	p.Q495R	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN			18	2847	-			557					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.1484A>G		.	.	.	.	.	.	.	.	.	.	T	15.89	2.966897	0.53507	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.12361	2.7;2.69	6.06	5.02	0.67125	.	0.237964	0.44902	D	0.000406	T	0.15176	0.0366	M	0.64997	1.995	0.80722	D	1	B	0.31730	0.337	B	0.28553	0.091	T	0.03068	-1.1076	10	0.20519	T	0.43	.	13.151	0.59490	0.0:0.0:0.1337:0.8663	.	557	Q9Y6X9	MORC2_HUMAN	R	557;495	ENSP00000380763:Q557R;ENSP00000215862:Q495R	ENSP00000215862:Q495R	Q	-	2	0	MORC2	29662565	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.712000	0.54875	1.075000	0.40932	0.533000	0.62120	CAG		0.517	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		104	156	0	0	0	1	0	104	156				
ARHGAP33	115703	broad.mit.edu	37	19	36271878	36271878	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr19:36271878C>T	ENST00000007510.4	+	11	1030	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R160C|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R296C			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	296					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATGCGCTCCCGCCCTTCTCG	0.667																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(886-888)Cgc>Tgc		Rho GTPase activating protein 33							38.0	44.0	42.0					19																	36271878		2201	4294	6495	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36271878C>T	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.886C>T	19.37:g.36271878C>T	ENSP00000007510:p.Arg296Cys					ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R160C|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R296C	p.R296C			O14559	RHG33_HUMAN			11	1030	+			296					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.886C>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.120148	0.77323	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.14893	2.78;2.47;2.9	5.13	4.08	0.47627	.	0.000000	0.64402	D	0.000001	T	0.39200	0.1069	M	0.64170	1.965	0.58432	D	0.99999	D;D	0.89917	1.0;0.999	D;P	0.83275	0.996;0.8	T	0.29058	-1.0024	10	0.87932	D	0	.	14.6721	0.68951	0.0:0.8536:0.1463:0.0	.	160;296	O14559-10;O14559-11	.;.	C	296;296;160	ENSP00000007510:R296C;ENSP00000320038:R296C;ENSP00000368227:R160C	ENSP00000007510:R296C	R	+	1	0	ARHGAP33	40963718	0.071000	0.21146	1.000000	0.80357	0.989000	0.77384	0.458000	0.21892	1.131000	0.42111	0.561000	0.74099	CGC		0.667	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		4	93	0	0	0	1	0	4	93				
FOLR4	390243	broad.mit.edu	37	11	94038918	94038918	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:94038918C>T	ENST00000440961.2	+	1	160	c.116C>T	c.(115-117)cCa>cTa	p.P39L		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	39					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GTGCCCAGCCCAGAAGACAAG	0.567																																						ENST00000440961.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(115-117)cCa>cTa		folate receptor 4, delta (putative)							53.0	56.0	55.0					11																	94038918		2027	4191	6218	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94038918C>T			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.116C>T	11.37:g.94038918C>T	ENSP00000416935:p.Pro39Leu						p.P39L	NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN			1	160	+			39						Missense_Mutation	SNP	ENST00000440961.2	37	c.116C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.01|16.01	3.000547|3.000547	0.54254|0.54254	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000440961|ENST00000328458	T|.	0.77877|.	-1.13|.	4.68|4.68	3.76|3.76	0.43208|0.43208	.|.	0.132681|.	0.51477|.	D|.	0.000090|.	T|.	0.67998|.	0.2953|.	M|M	0.87682|0.87682	2.9|2.9	0.29951|0.29951	N|N	0.820207|0.820207	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|.	0.68085|.	-0.5502|.	10|.	0.87932|.	D|.	0|.	-15.6556|-15.6556	10.1835|10.1835	0.42984|0.42984	0.3622:0.6378:0.0:0.0|0.3622:0.6378:0.0:0.0	.|.	39|.	A6ND01-2|.	.|.	L|X	39|33	ENSP00000416935:P39L|.	ENSP00000416935:P39L|.	P|Q	+|+	2|1	0|0	FOLR4|FOLR4	93678566|93678566	0.984000|0.984000	0.35163|0.35163	0.016000|0.016000	0.15963|0.15963	0.001000|0.001000	0.01503|0.01503	3.677000|3.677000	0.54619|0.54619	1.308000|1.308000	0.44962|0.44962	-0.182000|-0.182000	0.12963|0.12963	CCA|CAG		0.567	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		32	33	0	0	0	1	0	32	33				
PCDHA2	56146	broad.mit.edu	37	5	140176258	140176258	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:140176258C>T	ENST00000526136.1	+	1	1709	c.1709C>T	c.(1708-1710)gCt>gTt	p.A570V	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A570V|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A570V|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	570					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTAGGGCTGGCACCGCT	0.697																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1708-1710)gCt>gTt									95.0	91.0	92.0					5																	140176258		2203	4298	6501	SO:0001583	missense	0							g.chr5:140176258C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1709C>T	5.37:g.140176258C>T	ENSP00000431748:p.Ala570Val					PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A570V|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A570V	p.A570V	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1709	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1709C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	0.017	-1.505725	0.00992	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52754	0.72;0.65;0.69	3.75	0.801	0.18679	Cadherin-like (1);	0.663947	0.12104	N	0.499216	T	0.21347	0.0514	N	0.10707	0.03	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.004	B;B;B	0.15052	0.012;0.003;0.012	T	0.21827	-1.0234	10	0.16896	T	0.51	.	4.1505	0.10235	0.0:0.501:0.183:0.316	.	570;570;570	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	V	570	ENSP00000430584:A570V;ENSP00000367372:A570V;ENSP00000431748:A570V	ENSP00000367372:A570V	A	+	2	0	PCDHA2	140156442	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.216000	0.17585	0.220000	0.20860	-1.124000	0.02001	GCT		0.697	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		5	191	0	0	0	1	0	5	191				
SLC5A11	115584	broad.mit.edu	37	16	24918463	24918463	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr16:24918463G>A	ENST00000347898.3	+	12	1854	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	SLC5A11_ENST00000424767.2_Missense_Mutation_p.R376Q|SLC5A11_ENST00000569071.1_Missense_Mutation_p.R255Q|SLC5A11_ENST00000545376.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000449109.2_Missense_Mutation_p.R255Q|SLC5A11_ENST00000568579.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000539472.1_Missense_Mutation_p.R347Q|SLC5A11_ENST00000567758.1_Missense_Mutation_p.R376Q|SLC5A11_ENST00000565769.1_Missense_Mutation_p.R347Q	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTCCGGCCTCGGGCATCTGAG	0.597																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(1231-1233)cGg>cAg		solute carrier family 5 (sodium/inositol cotransporter), member 11							110.0	111.0	111.0					16																	24918463		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24918463G>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1232G>A	16.37:g.24918463G>A	ENSP00000289932:p.Arg411Gln					SLC5A11_ENST00000424767.2_Missense_Mutation_p.R376Q|SLC5A11_ENST00000567758.1_Missense_Mutation_p.R376Q|SLC5A11_ENST00000449109.2_Missense_Mutation_p.R255Q|SLC5A11_ENST00000568579.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000569071.1_Missense_Mutation_p.R255Q|SLC5A11_ENST00000539472.1_Missense_Mutation_p.R347Q|SLC5A11_ENST00000545376.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000565769.1_Missense_Mutation_p.R347Q	p.R411Q	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	12	1854	+			411						Missense_Mutation	SNP	ENST00000347898.3	37	c.1232G>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	8.798	0.932316	0.18131	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3	5.57	1.31	0.21738	.	0.430315	0.26627	N	0.023338	T	0.75561	0.3866	N	0.12746	0.255	0.19300	N	0.999972	D;B;B;B	0.67145	0.996;0.008;0.03;0.413	P;B;B;B	0.51016	0.656;0.01;0.041;0.122	T	0.67887	-0.5554	10	0.12430	T	0.62	.	5.9288	0.19128	0.2254:0.155:0.6196:0.0	.	341;376;411;255	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	Q	411;255;376;341;347	ENSP00000289932:R411Q;ENSP00000389606:R255Q;ENSP00000416782:R376Q;ENSP00000441384:R341Q;ENSP00000441018:R347Q	ENSP00000289932:R411Q	R	+	2	0	SLC5A11	24825964	0.000000	0.05858	0.997000	0.53966	0.992000	0.81027	0.413000	0.21148	0.731000	0.32448	0.563000	0.77884	CGG		0.597	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		110	164	0	0	0	1	0	110	164				
OR9Q1	219956	broad.mit.edu	37	11	57947747	57947747	+	Silent	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:57947747C>T	ENST00000335397.3	+	3	1147	c.831C>T	c.(829-831)taC>taT	p.Y277Y		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CTGTGCTTTACACAGAGGTCA	0.468																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(829-831)taC>taT		olfactory receptor, family 9, subfamily Q, member 1							115.0	100.0	105.0					11																	57947747		2201	4296	6497	SO:0001819	synonymous_variant	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947747C>T	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.831C>T	11.37:g.57947747C>T							p.Y277Y	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	1147	+		Breast(21;0.222)	277					Q2TAN3|Q96RA7	Silent	SNP	ENST00000335397.3	37	c.831C>T	CCDS31543.1																																																																																				0.468	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		53	119	0	0	0	1	0	53	119				
TRPA1	8989	broad.mit.edu	37	8	72968063	72968063	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr8:72968063C>T	ENST00000262209.4	-	11	1429	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	408					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGTCTTCATCCATTACCAGC	0.368																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1222-1224)Gat>Aat		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						52.0	54.0	53.0					8																	72968063		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72968063C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1222G>A	8.37:g.72968063C>T	ENSP00000262209:p.Asp408Asn					RP11-383H13.1_ENST00000457356.4_3'UTR	p.D408N	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		11	1429	-			408					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.1222G>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218449	0.79464	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.71222	-0.55;-0.55	5.1	5.1	0.69264	Ankyrin repeat-containing domain (2);	0.143817	0.64402	D	0.000007	T	0.82107	0.4965	M	0.69823	2.125	0.49213	D	0.999769	D	0.71674	0.998	P	0.62649	0.905	T	0.80968	-0.1145	10	0.36615	T	0.2	-29.5996	18.8547	0.92247	0.0:1.0:0.0:0.0	.	408	O75762	TRPA1_HUMAN	N	260;408	ENSP00000428151:D260N;ENSP00000262209:D408N	ENSP00000262209:D408N	D	-	1	0	TRPA1	73130617	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.757000	0.55212	2.521000	0.84997	0.650000	0.86243	GAT		0.368	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		49	57	0	0	0	1	0	49	57				
FAM210B	116151	broad.mit.edu	37	20	54945296	54945296	+	IGR	SNP	A	A	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr20:54945296A>T	ENST00000371384.3	+	0	3046				AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395913.3_Missense_Mutation_p.V377E|AURKA_ENST00000395909.4_Missense_Mutation_p.V377E|AURKA_ENST00000312783.6_Missense_Mutation_p.V377E|AURKA_ENST00000371356.2_Missense_Mutation_p.V377E|AURKA_ENST00000347343.2_Missense_Mutation_p.V377E|AURKA_ENST00000395915.3_Missense_Mutation_p.V377E|AURKA_ENST00000395914.1_Missense_Mutation_p.V377E|AURKA_ENST00000395911.1_Missense_Mutation_p.V377E	NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B							integral component of membrane (GO:0016021)											GTGTTCAAGTACTTCTCTGAG	0.453																																						ENST00000395909.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.(1129-1131)gTa>gAa		aurora kinase A							173.0	153.0	160.0					20																	54945296		2203	4298	6501	SO:0001628	intergenic_variant	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54945296A>T	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"""hypothetical protein LOC116151"""		"""chromosome 20 open reading frame 108"""	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793		20.37:g.54945296A>T						AURKA_ENST00000371356.2_Missense_Mutation_p.V377E|AURKA_ENST00000347343.2_Missense_Mutation_p.V377E|AURKA_ENST00000395915.3_Missense_Mutation_p.V377E|AURKA_ENST00000312783.6_Missense_Mutation_p.V377E|AURKA_ENST00000395911.1_Missense_Mutation_p.V377E|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395913.3_Missense_Mutation_p.V377E|AURKA_ENST00000395914.1_Missense_Mutation_p.V377E	p.V377E	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	Colorectal(105;0.202)		11	1695	-			377			Protein kinase.		B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Missense_Mutation	SNP	ENST00000371384.3	37	c.1130T>A	CCDS13450.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.826030	0.90955	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911	T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.25	5.25	0.73442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.090039	0.46442	D	0.000292	D	0.83866	0.5347	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.87090	0.2172	10	0.87932	D	0	-7.1875	15.465	0.75394	1.0:0.0:0.0:0.0	.	309;377;377	B4DX16;B2R6Z3;O14965	.;.;AURKA_HUMAN	E	377	ENSP00000379245:V377E;ENSP00000379250:V377E;ENSP00000216911:V377E;ENSP00000379251:V377E;ENSP00000321591:V377E;ENSP00000360407:V377E;ENSP00000379249:V377E;ENSP00000379247:V377E	ENSP00000321591:V377E	V	-	2	0	AURKA	54378703	1.000000	0.71417	0.975000	0.42487	0.934000	0.57294	9.118000	0.94355	2.115000	0.64714	0.528000	0.53228	GTA		0.453	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		6	351	0	0	0	1	0	6	351				
OR2L2	26246	broad.mit.edu	37	1	248202246	248202246	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:248202246G>A	ENST00000366479.2	+	1	773	c.677G>A	c.(676-678)cGc>cAc	p.R226H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R226L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCTGTCTACCGCATGCACTCT	0.483																																						ENST00000366479.2																			1	Substitution - Missense(1)	p.R226L(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(676-678)cGc>cAc		olfactory receptor, family 2, subfamily L, member 2							245.0	216.0	226.0					1																	248202246		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202246G>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.677G>A	1.37:g.248202246G>A	ENSP00000355435:p.Arg226His					OR2L13_ENST00000366478.2_Intron	p.R226H	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	773	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		226					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.677G>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	0.602	-0.828549	0.02734	.	.	ENSG00000203663	ENST00000366479	T	0.00262	8.4	1.9	-3.73	0.04398	GPCR, rhodopsin-like superfamily (1);	0.845232	0.09637	N	0.775456	T	0.00144	0.0004	L	0.47716	1.5	0.09310	N	1	B	0.15719	0.014	B	0.17979	0.02	T	0.07121	-1.0789	10	0.13470	T	0.59	.	9.4994	0.39008	0.261:0.0:0.739:0.0	.	226	Q8NH16	OR2L2_HUMAN	H	226	ENSP00000355435:R226H	ENSP00000355435:R226H	R	+	2	0	OR2L2	246268869	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.737000	0.01843	-1.044000	0.03254	0.194000	0.17425	CGC		0.483	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		5	352	0	0	0	1	0	5	352				
MCTP1	79772	broad.mit.edu	37	5	94248550	94248550	+	Silent	SNP	G	G	A	rs373286514		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:94248550G>A	ENST00000515393.1	-	9	1481	c.1482C>T	c.(1480-1482)taC>taT	p.Y494Y	MCTP1_ENST00000505078.1_Silent_p.Y10Y|MCTP1_ENST00000505208.1_Silent_p.Y273Y|MCTP1_ENST00000429576.2_Silent_p.Y227Y|MCTP1_ENST00000312216.8_Silent_p.Y273Y	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	494	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGAACTTCACGTAGGGATCGC	0.468																																						ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(1480-1482)taC>taT		multiple C2 domains, transmembrane 1		G	,	0,4406		0,0,2203	153.0	137.0	142.0		819,1482	-9.0	0.5	5		142	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MCTP1	NM_001002796.2,NM_024717.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	273/779,494/1000	94248550	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94248550G>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1482C>T	5.37:g.94248550G>A						MCTP1_ENST00000505078.1_Silent_p.Y10Y|MCTP1_ENST00000505208.1_Silent_p.Y273Y|MCTP1_ENST00000429576.2_Silent_p.Y227Y|MCTP1_ENST00000312216.8_Silent_p.Y273Y	p.Y494Y	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	9	1481	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	494			C2 2.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.1482C>T	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	8.281	0.815635	0.16607	0.0	1.16E-4	ENSG00000175471	ENST00000503301	.	.	.	5.72	-9.01	0.00744	.	.	.	.	.	T	0.62684	0.2448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71567	-0.4554	4	.	.	.	-13.9549	17.1561	0.86791	0.5277:0.0:0.4723:0.0	.	.	.	.	C	257	.	.	R	-	1	0	MCTP1	94274306	0.024000	0.19004	0.462000	0.27118	0.933000	0.57130	-0.594000	0.05733	-2.132000	0.00814	-0.759000	0.03464	CGT		0.468	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		5	234	0	0	0	1	0	5	234				
WRN	7486	broad.mit.edu	37	8	30946435	30946435	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr8:30946435C>G	ENST00000298139.5	+	13	1855	c.1606C>G	c.(1606-1608)Caa>Gaa	p.Q536E		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	536					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAATGAAGAGCAAGTTACTTG	0.328			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1606-1608)Caa>Gaa	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							99.0	91.0	94.0					8																	30946435		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30946435C>G		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1606C>G	8.37:g.30946435C>G	ENSP00000298139:p.Gln536Glu						p.Q536E	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	13	1855	+		Breast(100;0.195)	536					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.1606C>G	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516358	0.64634	.	.	ENSG00000165392	ENST00000298139	T	0.43294	0.95	5.5	5.5	0.81552	.	0.159491	0.46442	D	0.000294	T	0.43366	0.1244	L	0.55990	1.75	0.45634	D	0.998562	P	0.42296	0.775	B	0.39590	0.304	T	0.38650	-0.9651	10	0.44086	T	0.13	-10.2156	19.0028	0.92841	0.0:1.0:0.0:0.0	.	536	Q14191	WRN_HUMAN	E	536	ENSP00000298139:Q536E	ENSP00000298139:Q536E	Q	+	1	0	WRN	31065977	0.987000	0.35691	0.361000	0.25849	0.321000	0.28281	2.977000	0.49297	2.586000	0.87340	0.655000	0.94253	CAA		0.328	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			36	51	0	0	0	1	0	36	51				
SSPO	23145	broad.mit.edu	37	7	149485858	149485858	+	RNA	SNP	A	A	G			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr7:149485858A>G	ENST00000378016.2	+	0	4077							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGAAGGTCAATGGCATTGTG	0.622																																						ENST00000378016.2																			0													SCO-spondin							74.0	78.0	76.0					7																	149485858		2177	4267	6444			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149485858A>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149485858A>G										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	4077	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.622	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				31	62	0	0	0	1	0	31	62				
PRR23A	729627	broad.mit.edu	37	3	138724449	138724449	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr3:138724449C>T	ENST00000383163.2	-	1	661	c.662G>A	c.(661-663)cGc>cAc	p.R221H	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	221	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						CTCCAGAAGGCGGAATTCCGG	0.682																																						ENST00000383163.2																			0				endometrium(3)|kidney(1)|lung(7)	11						c.(661-663)cGc>cAc		proline rich 23A							33.0	39.0	38.0					3																	138724449		692	1591	2283	SO:0001583	missense	729627							g.chr3:138724449C>T		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.662G>A	3.37:g.138724449C>T	ENSP00000372649:p.Arg221His						p.R221H	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN			1	661	-			221			Pro-rich.			Missense_Mutation	SNP	ENST00000383163.2	37	c.662G>A	CCDS46923.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.587986	0.00872	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.23	0.809	0.18725	.	0.965081	0.08521	N	0.933459	T	0.05410	0.0143	N	0.00146	-1.995	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	.	5.1312	0.14911	0.0:0.2575:0.0:0.7425	.	221	A6NEV1	PR23A_HUMAN	H	221	.	ENSP00000372649:R221H	R	-	2	0	PRR23A	140207139	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.153000	0.10144	0.166000	0.19597	-1.279000	0.01387	CGC		0.682	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659		21	21	0	0	0	1	0	21	21				
ABCB10	23456	broad.mit.edu	37	1	229676423	229676423	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:229676423G>A	ENST00000344517.4	-	5	1175	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	378	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACTTTGCTGGCATATTTCTC	0.403																																						ENST00000344517.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.(1132-1134)gCc>gTc		ATP-binding cassette, sub-family B (MDR/TAP), member 10							118.0	108.0	112.0					1																	229676423		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229676423G>A	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1133C>T	1.37:g.229676423G>A	ENSP00000355637:p.Ala378Val						p.A378V	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			5	1175	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	378			ABC transmembrane type-1.		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.1133C>T	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093012	0.20471	.	.	ENSG00000135776	ENST00000344517	D	0.89875	-2.58	5.27	3.33	0.38152	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.808617	0.11822	N	0.526096	D	0.82467	0.5043	L	0.53671	1.685	0.09310	N	1	P	0.35272	0.493	B	0.27608	0.081	T	0.72994	-0.4122	10	0.41790	T	0.15	-7.4314	5.1325	0.14917	0.0748:0.2722:0.5128:0.1403	.	378	Q9NRK6	ABCBA_HUMAN	V	378	ENSP00000355637:A378V	ENSP00000355637:A378V	A	-	2	0	ABCB10	227743046	0.000000	0.05858	0.405000	0.26409	0.017000	0.09413	0.378000	0.20569	1.301000	0.44836	0.591000	0.81541	GCC		0.403	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		4	202	0	0	0	1	0	4	202				
MED13L	23389	broad.mit.edu	37	12	116435002	116435002	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr12:116435002G>A	ENST00000281928.3	-	15	2809	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	868						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAAAGATGGTGGAGTGGGAAA	0.398																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(2602-2604)cCa>cTa		mediator complex subunit 13-like							93.0	88.0	89.0					12																	116435002		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116435002G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2603C>T	12.37:g.116435002G>A	ENSP00000281928:p.Pro868Leu						p.P868L	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	15	2809	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		868					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.2603C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.136198	0.77662	.	.	ENSG00000123066	ENST00000281928	D	0.95656	-3.77	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97845	0.9292	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98304	1.0520	10	0.87932	D	0	.	19.7125	0.96102	0.0:0.0:1.0:0.0	.	868	Q71F56	MD13L_HUMAN	L	868	ENSP00000281928:P868L	ENSP00000281928:P868L	P	-	2	0	MED13L	114919385	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	9.230000	0.95299	2.665000	0.90641	0.467000	0.42956	CCA		0.398	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			4	234	0	0	0	1	0	4	234				
DCT	1638	broad.mit.edu	37	13	95121241	95121241	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr13:95121241G>A	ENST00000377028.5	-	2	767	c.354C>T	c.(352-354)tgC>tgT	p.C118C	DCT_ENST00000490854.1_5'Flank|DCT_ENST00000446125.1_Silent_p.C118C	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	118					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCTTCCGCTCGCAGTTGGGAC	0.498																																						ENST00000377028.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50						c.(352-354)tgC>tgT		dopachrome tautomerase							147.0	153.0	151.0					13																	95121241		2203	4300	6503	SO:0001819	synonymous_variant	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95121241G>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.354C>T	13.37:g.95121241G>A						DCT_ENST00000446125.1_Silent_p.C118C	p.C118C	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	2	767	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	118					Q09GT4	Silent	SNP	ENST00000377028.5	37	c.354C>T	CCDS9470.1																																																																																				0.498	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			11	390	0	0	0	1	0	11	390				
HCAR2	338442	broad.mit.edu	37	12	123187329	123187329	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr12:123187329G>A	ENST00000328880.5	-	1	561	c.502C>T	c.(502-504)Ccg>Tcg	p.P168S	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	168					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TTCTGGATCGGCATCTTCTTC	0.542																																						ENST00000328880.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(502-504)Ccg>Tcg		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)						105.0	92.0	96.0					12																	123187329		2203	4300	6503	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187329G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.502C>T	12.37:g.123187329G>A	ENSP00000375066:p.Pro168Ser					HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	p.P168S	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN			1	561	-			168					A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.502C>T	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	3.716	-0.058560	0.07317	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.71579	-0.58	4.69	-2.97	0.05530	GPCR, rhodopsin-like superfamily (1);	0.931942	0.08863	N	0.882782	T	0.37758	0.1015	N	0.04335	-0.225	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.15838	-1.0423	10	0.18276	T	0.48	-5.1214	1.3561	0.02182	0.3946:0.2401:0.2359:0.1293	.	168	Q8TDS4	HCAR2_HUMAN	S	168	ENSP00000375066:P168S	ENSP00000375066:P168S	P	-	1	0	HCAR2	121753282	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.592000	0.05851	0.655000	0.94253	CCG		0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551		4	152	0	0	0	1	0	4	152				
USH1C	10083	broad.mit.edu	37	11	17531148	17531148	+	Intron	SNP	C	C	T	rs369255684		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:17531148C>T	ENST00000318024.4	-	16	1393				USH1C_ENST00000005226.7_Missense_Mutation_p.A590T|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAGGATGAGGCGCTCACATGG	0.672																																						ENST00000005226.7																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						c.(1768-1770)Gcc>Acc		Usher syndrome 1C (autosomal recessive, severe)		C	,THR/ALA	0,4386		0,0,2193	11.0	14.0	13.0		,1768	-4.3	0.0	11		13	1,8561		0,1,4280	no	intron,missense	USH1C	NM_005709.3,NM_153676.3	,58	0,1,6473	TT,TC,CC		0.0117,0.0,0.0077	,benign	,590/900	17531148	1,12947	2193	4281	6474	SO:0001627	intron_variant	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17531148C>T	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7621G>A	11.37:g.17531148C>T						USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron	p.A590T	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN			18	1767	-			0					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.1768G>A	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.716613	0.00706	0.0	1.17E-4	ENSG00000006611	ENST00000005226	T	0.38560	1.13	5.74	-4.32	0.03688	.	0.562726	0.18408	N	0.142151	T	0.21103	0.0508	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14392	-1.0474	9	0.25106	T	0.35	.	8.0613	0.30635	0.141:0.2015:0.0:0.6575	.	590	Q7RTU8	.	T	590	ENSP00000005226:A590T	ENSP00000005226:A590T	A	-	1	0	USH1C	17487724	0.045000	0.20229	0.008000	0.14137	0.007000	0.05969	0.128000	0.15810	-0.576000	0.05974	-0.948000	0.02665	GCC		0.672	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		8	27	0	0	0	1	0	8	27				
CIC	23152	broad.mit.edu	37	19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr19:42791718C>T	ENST00000575354.2	+	5	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000572681.2_Missense_Mutation_p.R1111W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		1	Substitution - Missense(1)	p.R202W(1)	central_nervous_system(1)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3331-3333)Cgg>Tgg		capicua transcriptional repressor							63.0	67.0	66.0					19																	42791718		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791718C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.604C>T	19.37:g.42791718C>T	ENSP00000458663:p.Arg202Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000575354.2_Missense_Mutation_p.R202W	p.R1111W			Q96RK0	CIC_HUMAN			6	3399	+		Prostate(69;0.00682)	202			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3331C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590136	0.46214	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	3.33	0.38152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.88273	0.6392	H	0.99238	4.48	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.90719	0.4633	8	0.87932	D	0	-13.7219	11.1765	0.48603	0.1853:0.8147:0.0:0.0	.	202	Q96RK0	CIC_HUMAN	W	202	.	ENSP00000160740:R202W	R	+	1	2	CIC	47483558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.703000	0.37846	1.030000	0.39839	0.555000	0.69702	CGG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			41	30	0	0	0	1	0	41	30				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			55	118	0	0	0	1	0	55	118				
C1orf101	257044	broad.mit.edu	37	1	244756809	244756809	+	Silent	SNP	G	G	A			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:244756809G>A	ENST00000366534.4	+	17	2286	c.2232G>A	c.(2230-2232)agG>agA	p.R744R	C1orf101_ENST00000366531.3_Silent_p.R593R|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.R744R	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	744						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AGAGAGTAAGGTATATTTGGG	0.348																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(2230-2232)agG>agA		chromosome 1 open reading frame 101							79.0	82.0	81.0					1																	244756809		2203	4300	6503	SO:0001819	synonymous_variant	257044					integral to membrane		g.chr1:244756809G>A	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2232G>A	1.37:g.244756809G>A						C1orf101_ENST00000366533.4_Silent_p.R744R|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Silent_p.R593R	p.R744R	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		17	2286	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		744					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Silent	SNP	ENST00000366534.4	37	c.2232G>A	CCDS44340.1																																																																																				0.348	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		67	98	0	0	0	1	0	67	98				
HPX	3263	broad.mit.edu	37	11	6452914	6452914	+	Silent	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:6452914C>T	ENST00000265983.3	-	9	1186	c.1086G>A	c.(1084-1086)gcG>gcA	p.A362A		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	362					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AGATAAAGGCCGCATCCACAG	0.557																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(1084-1086)gcG>gcA		hemopexin							75.0	77.0	76.0					11																	6452914		2201	4296	6497	SO:0001819	synonymous_variant	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452914C>T	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1086G>A	11.37:g.6452914C>T							p.A362A	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	9	1186	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	362					B2R957	Silent	SNP	ENST00000265983.3	37	c.1086G>A	CCDS7763.1																																																																																				0.557	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		80	108	0	0	0	1	0	80	108				
SIRPA	140885	broad.mit.edu	37	20	1902292	1902292	+	Missense_Mutation	SNP	G	G	A	rs200513155		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr20:1902292G>A	ENST00000358771.4	+	3	840	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	230	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V230M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CATCTGCGAGGTGGCCCACGT	0.612																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - Missense(1)	p.V230M(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(688-690)Gtg>Atg		signal-regulatory protein alpha							66.0	57.0	60.0					20																	1902292		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902292G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.688G>A	20.37:g.1902292G>A	ENSP00000351621:p.Val230Met					SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M	p.V230M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	840	+			230			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.688G>A	CCDS13022.1	23	0.010531135531135532	4	0.008130081300813009	2	0.0055248618784530384	6	0.01048951048951049	11	0.014511873350923483	G	19.90	3.912586	0.72983	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.13538	2.58;2.58;2.58	4.86	4.86	0.63082	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.115071	0.38720	N	0.001599	T	0.38081	0.1027	H	0.95294	3.65	0.45634	D	0.99856	D;D;D	0.69078	0.993;0.984;0.997	D;P;P	0.62955	0.909;0.562;0.878	T	0.57556	-0.7791	10	0.66056	D	0.02	.	13.7542	0.62926	0.0:0.0:1.0:0.0	.	210;230;230	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	M	230	ENSP00000382941:V230M;ENSP00000348307:V230M;ENSP00000351621:V230M	ENSP00000348307:V230M	V	+	1	0	SIRPA	1850292	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	1.834000	0.39171	2.718000	0.92993	0.650000	0.86243	GTG		0.612	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		4	121	0	0	0	1	0	4	121				
TST	7263	broad.mit.edu	37	22	37414310	37414310	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr22:37414310G>T	ENST00000403892.3	-	1	1198	c.464C>A	c.(463-465)gCc>gAc	p.A155D	MPST_ENST00000429360.2_5'Flank|MPST_ENST00000341116.3_5'Flank|TST_ENST00000249042.3_Missense_Mutation_p.A155D|MPST_ENST00000401419.3_5'Flank|MPST_ENST00000404802.3_5'Flank|MPST_ENST00000397129.1_5'Flank|MPST_ENST00000404393.1_5'Flank	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	155	Hinge.				cellular nitrogen compound metabolic process (GO:0034641)|cyanate catabolic process (GO:0009440)|epithelial cell differentiation (GO:0030855)|rRNA import into mitochondrion (GO:0035928)|rRNA transport (GO:0051029)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|thiosulfate sulfurtransferase activity (GO:0004792)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GTCCAGTGTGGCTTTGAAGAC	0.597																																						ENST00000403892.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(463-465)gCc>gAc		thiosulfate sulfurtransferase (rhodanese)							72.0	64.0	67.0					22																	37414310		2202	4300	6502	SO:0001583	missense	7263				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity	g.chr22:37414310G>T	Z73420	CCDS13938.1	22q13.1	2002-02-05			ENSG00000128311	ENSG00000128311	2.8.1.1		12388	protein-coding gene	gene with protein product		180370				1953758	Standard	NM_003312		Approved	RDS	uc003aqh.4	Q16762	OTTHUMG00000150533	ENST00000403892.3:c.464C>A	22.37:g.37414310G>T	ENSP00000385828:p.Ala155Asp					TST_ENST00000249042.3_Missense_Mutation_p.A155D	p.A155D	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN			1	1198	-			155			Hinge.		B3KRM1|Q6IB06	Missense_Mutation	SNP	ENST00000403892.3	37	c.464C>A	CCDS13938.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936890	0.92458	.	.	ENSG00000128311	ENST00000403892;ENST00000249042;ENST00000413912	T;T	0.48201	0.82;0.82	4.99	4.99	0.66335	Rhodanese-like (3);	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	M	0.89968	3.075	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.81389	-0.0955	10	0.87932	D	0	-18.0486	18.2954	0.90145	0.0:0.0:1.0:0.0	.	155	Q16762	THTR_HUMAN	D	155	ENSP00000385828:A155D;ENSP00000249042:A155D	ENSP00000249042:A155D	A	-	2	0	TST	35744256	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.454000	0.97621	2.297000	0.77311	0.561000	0.74099	GCC		0.597	TST-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318790.1			25	52	1	0	2.48779e-11	1	2.57826e-11	25	52				
DNAJC4	3338	broad.mit.edu	37	11	63997583	63997583	+	5'Flank	SNP	A	A	C			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:63997583A>C	ENST00000321685.3	+	0	0				DNAJC4_ENST00000321460.5_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000355040.4_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4						protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						AAAAAAAAAAACCCGCCCAGC	0.532																																						ENST00000534988.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr11:63997583A>C	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792		11.37:g.63997583A>C	Exception_encountered													0	99	-								O14716	RNA	SNP	ENST00000321685.3	37		CCDS41666.1																																																																																				0.532	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			4	3	0	0	0	1	0	4	3				
AQP10	89872	broad.mit.edu	37	1	154293680	154293680	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:154293680C>T	ENST00000324978.3	+	1	89	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	AQP10_ENST00000484864.1_Missense_Mutation_p.R17C|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	17					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCCGGATACGCAGCCTCCT	0.567																																						ENST00000484864.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(49-51)Cgc>Tgc		aquaporin 10							58.0	56.0	56.0					1																	154293680		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154293680C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.49C>T	1.37:g.154293680C>T	ENSP00000318355:p.Arg17Cys					AQP10_ENST00000324978.3_Missense_Mutation_p.R17C|AQP10_ENST00000355197.4_3'UTR	p.R17C			Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		1	85	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		17					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.49C>T	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225891	0.79576	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85861	-1.93;-2.04	5.09	5.09	0.68999	.	0.366954	0.24988	N	0.034002	D	0.88905	0.6564	M	0.74467	2.265	0.41006	D	0.984969	D;D	0.76494	0.998;0.999	P;D	0.63033	0.886;0.91	D	0.89973	0.4095	10	0.87932	D	0	.	12.3196	0.54977	0.1692:0.8308:0.0:0.0	.	17;17	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	C	17	ENSP00000318355:R17C;ENSP00000420341:R17C	ENSP00000318355:R17C	R	+	1	0	AQP10	152560304	0.291000	0.24352	0.991000	0.47740	0.967000	0.64934	2.932000	0.48940	2.648000	0.89879	0.505000	0.49811	CGC		0.567	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		34	106	0	0	0	1	0	34	106				
MUC4	4585	broad.mit.edu	37	3	195515463	195515463	+	Silent	SNP	G	G	A	rs200036832		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr3:195515463G>A	ENST00000463781.3	-	2	3447	c.2988C>T	c.(2986-2988)acC>acT	p.T996T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T996T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	420	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T996T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGCATCGGTGACATGAA	0.582																																						ENST00000463781.3																			1	Substitution - coding silent(1)	p.T996T(1)	endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2986-2988)acC>acT		mucin 4, cell surface associated							54.0	45.0	48.0					3																	195515463		2197	4263	6460	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515463G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2988C>T	3.37:g.195515463G>A						MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T996T	p.T996T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3447	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1001			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.2988C>T	CCDS54700.1																																																																																				0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	26	0	0	0	1	0	4	26				
GML	2765	broad.mit.edu	37	8	143928001	143928001	+	Silent	SNP	C	C	T			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr8:143928001C>T	ENST00000220940.1	+	4	462	c.372C>T	c.(370-372)ccC>ccT	p.P124P		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	124	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)		p.P124P(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACATGTTACCCGATGAAGTAA	0.418																																						ENST00000220940.1																			1	Substitution - coding silent(1)	p.P124P(1)	central_nervous_system(1)	NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18						c.(370-372)ccC>ccT		glycosylphosphatidylinositol anchored molecule like							109.0	106.0	107.0					8																	143928001		2203	4300	6503	SO:0001819	synonymous_variant	2765				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		g.chr8:143928001C>T	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"""GPI anchored molecule like protein"", ""glycosylphosphatidylinositol anchored molecule like protein"""			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.372C>T	8.37:g.143928001C>T							p.P124P	NM_002066.2	NP_002057.1	Q99445	GML_HUMAN			4	462	+	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		124			UPAR/Ly6.		A0AVF6|O00686|O00731	Silent	SNP	ENST00000220940.1	37	c.372C>T	CCDS6391.1																																																																																				0.418	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066		5	218	0	0	0	1	0	5	218				
TRIM23	373	broad.mit.edu	37	5	64892881	64892881	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:64892881T>C	ENST00000231524.9	-	8	1677	c.1306A>G	c.(1306-1308)Att>Gtt	p.I436V	TRIM23_ENST00000274327.7_Missense_Mutation_p.I436V|TRIM23_ENST00000381018.3_Missense_Mutation_p.I436V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	436	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TACTTACCAATTGTTGGAATG	0.388																																						ENST00000231524.9																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28						c.(1306-1308)Att>Gtt		tripartite motif containing 23							111.0	109.0	110.0					5																	64892881		2203	4300	6503	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64892881T>C	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1306A>G	5.37:g.64892881T>C	ENSP00000231524:p.Ile436Val					TRIM23_ENST00000381018.3_Missense_Mutation_p.I436V|TRIM23_ENST00000274327.7_Missense_Mutation_p.I436V	p.I436V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN		Lung(70;0.00473)	8	1677	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	436			ARF-like.		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.1306A>G	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	T	17.59	3.427534	0.62733	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.83250	-1.7;-1.7;-1.7	5.97	5.97	0.96955	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84306	0.5443	L	0.35487	1.065	0.80722	D	1	P;P;P	0.52842	0.554;0.956;0.894	P;P;P	0.55923	0.787;0.68;0.589	D	0.84866	0.0822	10	0.48119	T	0.1	.	16.4534	0.84003	0.0:0.0:0.0:1.0	.	436;436;436	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	V	436	ENSP00000231524:I436V;ENSP00000370406:I436V;ENSP00000274327:I436V	ENSP00000231524:I436V	I	-	1	0	TRIM23	64928637	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.285000	0.76669	0.477000	0.44152	ATT		0.388	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		70	185	0	0	0	1	0	70	185				
ITIH4	3700	broad.mit.edu	37	3	52860815	52860815	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr3:52860815delG	ENST00000266041.4	-	4	607	c.511delC	c.(511-513)cacfs	p.H171fs	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000406595.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000434759.3_Frame_Shift_Del_p.H83fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	171					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCTGCAGGTGCTTGACCAGC	0.622																																						ENST00000266041.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30						c.(511-513)acfs		inter-alpha-trypsin inhibitor heavy chain family, member 4							42.0	42.0	42.0					3																	52860815		2203	4300	6503	SO:0001589	frameshift_variant	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52860815delG	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.511delC	3.37:g.52860815delG	ENSP00000266041:p.His171fs					ITIH4_ENST00000406595.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000434759.3_Frame_Shift_Del_p.H83fs|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.H171fs	p.H171fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	4	607	-			171					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Frame_Shift_Del	DEL	ENST00000266041.4	37	c.511delC	CCDS2865.1																																																																																				0.622	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		41	69						41	69	---	---	---	---
CTD-2503O16.4	0	broad.mit.edu	37	5	74227325	74227325	+	lincRNA	DEL	C	C	-	rs199637911|rs146363494	byFrequency	TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:74227325delC	ENST00000505200.1	-	0	335																											cagagaattgcttgaacccag	0.463													C|C|-|deletion	2706	0.540335	0.3215	0.5965	5008	,	,		17789	0.3899		0.7624	False		,,,				2504	0.7229					ENST00000505200.1																			0																																																			0							g.chr5:74227325delC																													5.37:g.74227325delC														0	335	-									RNA	DEL	ENST00000505200.1	37																																																																																						0.463	CTD-2503O16.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370953.2			2	4						2	4	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26428451	26428451	+	RNA	DEL	A	A	-	rs139821417|rs79568516		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr6:26428451delA	ENST00000466808.2	+	0	1304							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											gtgtctaattaaaaaaaaaaa	0.448																																						ENST00000466808.2																			0																																																			0							g.chr6:26428451delA	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26428451delA														0	1304	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.448	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		2	4						2	4	---	---	---	---
FGFBP3	143282	broad.mit.edu	37	10	93668353	93668353	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr10:93668353delT	ENST00000311575.5	-	2	537	c.374delA	c.(373-375)cacfs	p.H125fs	RP11-402D21.2_ENST00000610263.1_RNA	NM_152429.4	NP_689642.3	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	125					positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of vascular permeability (GO:0043117)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	fibroblast growth factor binding (GO:0017134)|heparin binding (GO:0008201)			large_intestine(1)|prostate(1)	2		Colorectal(252;0.162)				CGCGGGGTCGTGACAGGGCCT	0.761																																						ENST00000311575.5																			0				large_intestine(1)|prostate(1)	2						c.(373-375)ccfs		fibroblast growth factor binding protein 3							2.0	2.0	2.0					10																	93668353		1623	3230	4853	SO:0001589	frameshift_variant	143282				positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding	g.chr10:93668353delT	AK075410	CCDS7418.1	10q23.33	2006-12-14	2006-12-14	2006-12-14	ENSG00000174721	ENSG00000174721			23428	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 13"""	C10orf13			Standard	NM_152429		Approved	MGC39320	uc001khq.4	Q8TAT2	OTTHUMG00000018751	ENST00000311575.5:c.374delA	10.37:g.93668353delT	ENSP00000339067:p.His125fs						p.H125fs	NM_152429.4	NP_689642.3	Q8TAT2	FGFP3_HUMAN			2	537	-		Colorectal(252;0.162)	125					B2RD68|Q8NBN0	Frame_Shift_Del	DEL	ENST00000311575.5	37	c.374delA	CCDS7418.1																																																																																				0.761	FGFBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049379.1	NM_152429		2	4						2	4	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr15:23312380delT	ENST00000560464.1	-	0	3118									hect domain and RLD 2 pseudogene 2																		TGTTAttttcttttttttttt	0.398																																						ENST00000560464.1																			0																																																			0							g.chr15:23312380delT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312380delT														0	3118	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.398	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	5						3	5	---	---	---	---
GINS1	9837	broad.mit.edu	37	20	25422397	25422397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr20:25422397delA	ENST00000262460.4	+	6	601	c.507delA	c.(505-507)ttafs	p.L169fs	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	169					DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.N172fs*14(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						CAGTCCTATTAAAAAAAAATA	0.299																																						ENST00000262460.4																			1	Deletion - Frameshift(1)	p.N172fs*14(1)	lung(1)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						c.(505-507)ttfs		GINS complex subunit 1 (Psf1 homolog)							53.0	59.0	57.0					20																	25422397		2199	4294	6493	SO:0001589	frameshift_variant	9837				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr20:25422397delA	BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.507delA	20.37:g.25422397delA	ENSP00000262460:p.Leu169fs					GINS1_ENST00000429262.2_3'UTR	p.L169fs	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN			6	601	+			169					Q9NQE2|Q9NQI7	Frame_Shift_Del	DEL	ENST00000262460.4	37	c.507delA	CCDS33451.1																																																																																				0.299	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1	NM_021067		8	172						8	172	---	---	---	---
