#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
FUT7	2529	broad.mit.edu	37	9	139925558	139925558	+	Silent	SNP	G	G	A			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr9:139925558G>A	ENST00000314412.6	-	2	1651	c.633C>T	c.(631-633)tgC>tgT	p.C211C	ABCA2_ENST00000341511.6_5'Flank|C9orf139_ENST00000314330.2_Intron|ABCA2_ENST00000265662.5_5'Flank|ABCA2_ENST00000371605.3_5'Flank|ABCA2_ENST00000492260.1_5'Flank	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	211					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GGCAGCTGGCGCACAGTGGCC	0.627																																						ENST00000314412.6																			0				NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8						c.(631-633)tgC>tgT		fucosyltransferase 7 (alpha (1,3) fucosyltransferase)																																				SO:0001819	synonymous_variant	2529				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr9:139925558G>A	X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"""Fucosyltransferases"""	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.633C>T	9.37:g.139925558G>A						C9orf139_ENST00000314330.2_Intron	p.C211C	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1651	-	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	211					B2R7U7|Q6DK54	Silent	SNP	ENST00000314412.6	37	c.633C>T	CCDS7022.1																																																																																				0.627	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	NM_004479		15	146	0	0	0	1	0	15	146				
NOTCH3	4854	broad.mit.edu	37	19	15276799	15276799	+	Silent	SNP	G	G	A	rs148053028	byFrequency	TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr19:15276799G>A	ENST00000263388.2	-	30	5541	c.5466C>T	c.(5464-5466)tcC>tcT	p.S1822S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1822					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGATCAGGTCGGAGATGATGC	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		17759	0.0		0.002	False		,,,				2504	0.0					ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(5464-5466)tcC>tcT		notch 3		G		1,4405	2.1+/-5.4	0,1,2202	77.0	65.0	69.0		5466	-5.1	0.9	19	dbSNP_134	69	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NOTCH3	NM_000435.2		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		1822/2322	15276799	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15276799G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5466C>T	19.37:g.15276799G>A							p.S1822S	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		30	5541	-			1822					Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	ENST00000263388.2	37	c.5466C>T	CCDS12326.1																																																																																				0.602	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		8	18	0	0	0	1	0	8	18				
ANKZF1	55139	broad.mit.edu	37	2	220098130	220098130	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr2:220098130G>A	ENST00000323348.5	+	7	968	c.794G>A	c.(793-795)cGc>cAc	p.R265H	ANKZF1_ENST00000409849.1_Missense_Mutation_p.R55H|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R265H	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	265						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R265L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACCTGAGGCGCTACAATGAA	0.512																																						ENST00000323348.5																			1	Substitution - Missense(1)	p.R265L(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(793-795)cGc>cAc		ankyrin repeat and zinc finger domain containing 1							31.0	33.0	32.0					2																	220098130		1959	4142	6101	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220098130G>A	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.794G>A	2.37:g.220098130G>A	ENSP00000321617:p.Arg265His					ANKZF1_ENST00000409849.1_Missense_Mutation_p.R55H|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R265H	p.R265H	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	968	+		Renal(207;0.0474)	265					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.794G>A	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343153	0.82022	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	T;T;T	0.65732	-0.17;0.46;-0.17	4.87	3.99	0.46301	.	0.052127	0.85682	N	0.000000	D	0.82591	0.5070	M	0.92367	3.3	0.80722	D	1	P;D;P	0.89917	0.76;1.0;0.84	B;D;B	0.91635	0.147;0.999;0.07	D	0.86577	0.1851	10	0.87932	D	0	-6.0856	13.008	0.58717	0.0773:0.0:0.9227:0.0	.	209;55;265	B4DZT1;B4E0V1;Q9H8Y5	.;.;ANKZ1_HUMAN	H	265;55;265	ENSP00000321617:R265H;ENSP00000386815:R55H;ENSP00000386337:R265H	ENSP00000321617:R265H	R	+	2	0	ANKZF1	219806374	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.303000	0.78871	1.274000	0.44362	0.655000	0.94253	CGC		0.512	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		8	18	0	0	0	1	0	8	18				
FARS2	10667	broad.mit.edu	37	6	5369234	5369234	+	Missense_Mutation	SNP	A	A	G	rs397514610		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr6:5369234A>G	ENST00000324331.6	+	2	767	c.431A>G	c.(430-432)tAt>tGt	p.Y144C	FARS2_ENST00000274680.4_Missense_Mutation_p.Y144C			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	144			Y -> C (in COXPD14; results in decreased affinity for tRNA causing a decrease in the catalytic efficiency for tRNA charging; does not affect ATP or Phe binding). {ECO:0000269|PubMed:22499341}.		gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	GGGGACAACTATTACCTGAAT	0.572																																						ENST00000324331.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(430-432)tAt>tGt		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						106.0	95.0	99.0					6																	5369234		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5369234A>G	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.431A>G	6.37:g.5369234A>G	ENSP00000316335:p.Tyr144Cys					FARS2_ENST00000274680.4_Missense_Mutation_p.Y144C	p.Y144C			O95363	SYFM_HUMAN			2	767	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	144					B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.431A>G	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.794677	0.70452	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.65732	-0.17;-0.17	5.38	4.2	0.49525	Phenylalanyl-tRNA synthetase (1);	0.000000	0.85682	D	0.000000	T	0.80581	0.4650	H	0.96111	3.77	0.53688	D	0.999973	D	0.89917	1.0	D	0.97110	1.0	D	0.85364	0.1109	10	0.87932	D	0	-26.1385	11.1146	0.48254	0.8614:0.0:0.0:0.1386	.	144	O95363	SYFM_HUMAN	C	144	ENSP00000274680:Y144C;ENSP00000316335:Y144C	ENSP00000274680:Y144C	Y	+	2	0	FARS2	5314233	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.149000	0.77396	0.945000	0.37605	0.533000	0.62120	TAT		0.572	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		18	43	0	0	0	1	0	18	43				
DEFB129	140881	broad.mit.edu	37	20	207948	207948	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr20:207948A>G	ENST00000246105.4	+	1	50	c.19A>G	c.(19-21)Atc>Gtc	p.I7V		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	7					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CCTTTTTCCTATCTTTGCCAG	0.498																																						ENST00000246105.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9						c.(19-21)Atc>Gtc		defensin, beta 129							192.0	159.0	170.0					20																	207948		2203	4300	6503	SO:0001583	missense	140881				defense response to bacterium	extracellular region		g.chr20:207948A>G	AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"""Defensins, beta"""	16218	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 87"""	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.19A>G	20.37:g.207948A>G	ENSP00000246105:p.Ile7Val						p.I7V	NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		1	50	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	7					Q8NES7	Missense_Mutation	SNP	ENST00000246105.4	37	c.19A>G	CCDS12992.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.340046	0.41398	.	.	ENSG00000125903	ENST00000246105	T	0.51325	0.71	4.39	-4.08	0.03963	.	0.554124	0.16543	N	0.209848	T	0.24236	0.0587	N	0.19112	0.55	0.18873	N	0.999986	B	0.24043	0.096	B	0.18263	0.021	T	0.06391	-1.0829	10	0.51188	T	0.08	-9.7204	5.7859	0.18333	0.3031:0.3096:0.3873:0.0	.	7	Q9H1M3	DB129_HUMAN	V	7	ENSP00000246105:I7V	ENSP00000246105:I7V	I	+	1	0	DEFB129	155948	0.972000	0.33761	0.423000	0.26634	0.886000	0.51366	-0.038000	0.12144	-0.812000	0.04363	-1.811000	0.00612	ATC		0.498	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831		11	73	0	0	0	1	0	11	73				
CCDC13	152206	broad.mit.edu	37	3	42751216	42751216	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr3:42751216C>G	ENST00000310232.6	-	15	2031	c.1948G>C	c.(1948-1950)Gat>Cat	p.D650H		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	650										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACGGGCACATCGGAGAGCTGG	0.592																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(1948-1950)Gat>Cat		coiled-coil domain containing 13							221.0	193.0	202.0					3																	42751216		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42751216C>G	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1948G>C	3.37:g.42751216C>G	ENSP00000309836:p.Asp650His						p.D650H	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			15	2031	-			650						Missense_Mutation	SNP	ENST00000310232.6	37	c.1948G>C	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506954	0.26949	.	.	ENSG00000244607	ENST00000310232	T	0.12147	2.71	4.6	-0.957	0.10350	.	1.994340	0.02500	N	0.090369	T	0.14098	0.0341	L	0.50333	1.59	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.32587	-0.9901	10	0.56958	D	0.05	.	4.5279	0.11990	0.0:0.3279:0.3464:0.3257	.	650	Q8IYE1	CCD13_HUMAN	H	650	ENSP00000309836:D650H	ENSP00000309836:D650H	D	-	1	0	CCDC13	42726220	0.001000	0.12720	0.004000	0.12327	0.189000	0.23516	-0.207000	0.09384	-0.432000	0.07297	-0.140000	0.14226	GAT		0.592	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		6	81	0	0	0	1	0	6	81				
LPP	4026	broad.mit.edu	37	3	188242556	188242556	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr3:188242556A>G	ENST00000312675.4	+	5	656	c.410A>G	c.(409-411)tAt>tGt	p.Y137C	LPP_ENST00000448637.1_Missense_Mutation_p.Y137C|LPP_ENST00000543006.1_Missense_Mutation_p.Y137C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	137	Pro-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		AGCTCCCCCTATAAGCCTCGG	0.537			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	ENST00000312675.4				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(409-411)tAt>tGt		LIM domain containing preferred translocation partner in lipoma							133.0	125.0	127.0					3																	188242556		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188242556A>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.410A>G	3.37:g.188242556A>G	ENSP00000318089:p.Tyr137Cys					LPP_ENST00000448637.1_Missense_Mutation_p.Y137C|LPP_ENST00000543006.1_Missense_Mutation_p.Y137C	p.Y137C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	5	656	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	137			Pro-rich.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.410A>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873001	0.72180	.	.	ENSG00000145012	ENST00000448637;ENST00000416784;ENST00000312675;ENST00000543006	T;T;T;T	0.57595	1.79;0.61;0.39;0.39	5.62	5.62	0.85841	.	0.225560	0.47455	D	0.000231	T	0.70552	0.3237	M	0.70275	2.135	0.53005	D	0.999963	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.99;1.0;0.996	T	0.71909	-0.4450	10	0.48119	T	0.1	.	13.7694	0.63015	1.0:0.0:0.0:0.0	.	137;137;137	B7Z8W0;C9JUT4;Q93052	.;.;LPP_HUMAN	C	137	ENSP00000393602:Y137C;ENSP00000410340:Y137C;ENSP00000318089:Y137C;ENSP00000438891:Y137C	ENSP00000318089:Y137C	Y	+	2	0	LPP	189725250	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.747000	0.74872	2.151000	0.67156	0.533000	0.62120	TAT		0.537	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		30	110	0	0	0	1	0	30	110				
FAM102B	284611	broad.mit.edu	37	1	109143213	109143213	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr1:109143213C>A	ENST00000370035.3	+	2	503	c.163C>A	c.(163-165)Cgc>Agc	p.R55S	FAM102B_ENST00000405454.1_Missense_Mutation_p.R55S	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	55										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		AAACTGTGTTCGCTGGAGAAA	0.398																																						ENST00000370035.3																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5						c.(163-165)Cgc>Agc		family with sequence similarity 102, member B							122.0	120.0	120.0					1																	109143213		2203	4300	6503	SO:0001583	missense	284611							g.chr1:109143213C>A	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.163C>A	1.37:g.109143213C>A	ENSP00000359052:p.Arg55Ser					FAM102B_ENST00000405454.1_Missense_Mutation_p.R55S	p.R55S	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	2	503	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	55					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	c.163C>A	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851293	0.51270	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	T;T	0.41400	1.0;1.0	5.37	5.37	0.77165	.	0.512727	0.24287	N	0.039845	T	0.16471	0.0396	L	0.34521	1.04	0.28618	N	0.908304	B	0.27594	0.182	B	0.32864	0.154	T	0.10753	-1.0616	10	0.07482	T	0.82	0.0	15.7211	0.77710	0.0:0.863:0.137:0.0	.	55	Q5T8I3	F102B_HUMAN	S	55	ENSP00000359052:R55S;ENSP00000386084:R55S	ENSP00000359052:R55S	R	+	1	0	FAM102B	108944736	0.997000	0.39634	0.995000	0.50966	0.939000	0.58152	3.404000	0.52623	2.671000	0.90904	0.557000	0.71058	CGC		0.398	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		3	55	1	0	0.115264	1	0.115264	3	55				
LPGAT1	9926	broad.mit.edu	37	1	211923271	211923271	+	Silent	SNP	G	G	A	rs370753583		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr1:211923271G>A	ENST00000366997.4	-	8	1309	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	LPGAT1_ENST00000366996.1_Silent_p.I361I	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	361					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		AATACTGAATGATGTTGTACC	0.398																																						ENST00000366997.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1081-1083)atC>atT		lysophosphatidylglycerol acyltransferase 1							144.0	148.0	147.0					1																	211923271		2203	4300	6503	SO:0001819	synonymous_variant	9926				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chr1:211923271G>A	D86960	CCDS31018.1	1q32.3	2008-05-14	2004-11-25	2004-11-26	ENSG00000123684	ENSG00000123684			28985	protein-coding gene	gene with protein product		610473	"""family with sequence similarity 34, member A"""	FAM34A		9039502, 15485873	Standard	NM_014873		Approved	KIAA0205, FAM34A1, NET8	uc001hiv.3	Q92604	OTTHUMG00000037120	ENST00000366997.4:c.1083C>T	1.37:g.211923271G>A						LPGAT1_ENST00000366996.1_Silent_p.I361I	p.I361I	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)	8	1309	-			361					Q53YL2	Silent	SNP	ENST00000366997.4	37	c.1083C>T	CCDS31018.1																																																																																				0.398	LPGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090150.1	NM_014873		4	125	0	0	0	1	0	4	125				
OR6S1	341799	broad.mit.edu	37	14	21109704	21109704	+	Silent	SNP	C	C	G			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr14:21109704C>G	ENST00000320704.3	-	1	146	c.147G>C	c.(145-147)ggG>ggC	p.G49G		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCCTTACCACCCCCACAATCA	0.463																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(145-147)ggG>ggC		olfactory receptor, family 6, subfamily S, member 1							98.0	94.0	95.0					14																	21109704		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109704C>G	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.147G>C	14.37:g.21109704C>G							p.G49G	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	146	-	all_cancers(95;0.00304)		49					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.147G>C	CCDS32038.1																																																																																				0.463	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			24	64	0	0	0	1	0	24	64				
FRK	2444	broad.mit.edu	37	6	116263608	116263608	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr6:116263608G>A	ENST00000606080.1	-	8	1933	c.1487C>T	c.(1486-1488)tCa>tTa	p.S496L	FRK_ENST00000538210.1_Missense_Mutation_p.S354L	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	496					cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	ATCTGAATATGAAGAGTCTGT	0.343																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(1486-1488)tCa>tTa		fyn-related kinase							112.0	112.0	112.0					6																	116263608		2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116263608G>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.1487C>T	6.37:g.116263608G>A	ENSP00000476145:p.Ser496Leu					FRK_ENST00000538210.1_Missense_Mutation_p.S354L	p.S496L	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	8	1933	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	496					B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.1487C>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	8.170	0.791378	0.16258	.	.	ENSG00000111816	ENST00000368626;ENST00000538210	T;T	0.74209	-0.82;-0.77	5.07	2.31	0.28768	.	0.000000	0.45606	D	0.000347	T	0.48003	0.1476	L	0.46741	1.465	0.58432	D	0.999999	B	0.18310	0.027	B	0.15052	0.012	T	0.50294	-0.8845	10	0.87932	D	0	.	6.4739	0.22024	0.1688:0.1508:0.6804:0.0	.	496	P42685	FRK_HUMAN	L	496;354	ENSP00000357615:S496L;ENSP00000443075:S354L	ENSP00000357615:S496L	S	-	2	0	FRK	116370301	0.189000	0.23263	0.059000	0.19551	0.380000	0.30137	2.620000	0.46410	0.314000	0.23086	-0.229000	0.12294	TCA		0.343	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		19	56	0	0	0	1	0	19	56				
DPP9	91039	broad.mit.edu	37	19	4694806	4694806	+	Silent	SNP	T	T	C	rs549939671		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr19:4694806T>C	ENST00000598800.1	-	14	1801	c.1296A>G	c.(1294-1296)caA>caG	p.Q432Q	DPP9_ENST00000262960.9_Silent_p.Q461Q|DPP9_ENST00000594671.1_Silent_p.Q432Q|DPP9_ENST00000597849.1_Silent_p.Q461Q			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	432						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CTCCCTCTGATTGGGGGAAGG	0.532													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18624	0.0		0.0	False		,,,				2504	0.0					ENST00000262960.9																			0				cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1381-1383)caA>caG		dipeptidyl-peptidase 9							52.0	53.0	53.0					19																	4694806		1946	4142	6088	SO:0001819	synonymous_variant	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4694806T>C	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.1296A>G	19.37:g.4694806T>C						DPP9_ENST00000598800.1_Silent_p.Q432Q|DPP9_ENST00000597849.1_Silent_p.Q461Q|DPP9_ENST00000594671.1_Silent_p.Q432Q	p.Q461Q	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	13	1660	-		Hepatocellular(1079;0.137)	432	L -> F (in Ref. 7; CAD39039).				O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	ENST00000598800.1	37	c.1383A>G																																																																																					0.532	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			15	19	0	0	0	1	0	15	19				
NPAS4	266743	broad.mit.edu	37	11	66190206	66190206	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr11:66190206C>A	ENST00000311034.2	+	4	668	c.492C>A	c.(490-492)aaC>aaA	p.N164K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	164					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GTGCAGGCAACAAACTCGTGC	0.552																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(490-492)aaC>aaA		neuronal PAS domain protein 4							117.0	112.0	114.0					11																	66190206		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190206C>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.492C>A	11.37:g.66190206C>A	ENSP00000311196:p.Asn164Lys						p.N164K	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			4	668	+			164					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.492C>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273798	0.80580	.	.	ENSG00000174576	ENST00000311034	T	0.45276	0.9	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000005	T	0.50531	0.1621	L	0.43152	1.355	0.80722	D	1	D	0.58620	0.983	P	0.56088	0.791	T	0.26573	-1.0099	10	0.24483	T	0.36	-18.8654	17.4135	0.87493	0.0:1.0:0.0:0.0	.	164	Q8IUM7	NPAS4_HUMAN	K	164	ENSP00000311196:N164K	ENSP00000311196:N164K	N	+	3	2	NPAS4	65946782	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.563000	0.36364	2.702000	0.92279	0.655000	0.94253	AAC		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		14	34	1	0	1.15088e-07	1	1.24174e-07	14	34				
MRPS18B	28973	broad.mit.edu	37	6	30593484	30593484	+	Silent	SNP	C	C	T	rs148815125		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr6:30593484C>T	ENST00000259873.4	+	7	844	c.687C>T	c.(685-687)ggC>ggT	p.G229G	ATAT1_ENST00000319027.5_5'Flank|ATAT1_ENST00000376485.4_5'Flank|ATAT1_ENST00000329992.8_5'Flank|MRPS18B_ENST00000472229.1_3'UTR|ATAT1_ENST00000318999.7_5'Flank|ATAT1_ENST00000376483.4_5'Flank|ATAT1_ENST00000330083.5_5'Flank|MRPS18B_ENST00000506373.2_3'UTR|ATAT1_ENST00000376478.2_5'Flank	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	229					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						AAGAGAGTGGCCCCCCACCTG	0.592																																						ENST00000259873.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						c.(685-687)ggC>ggT		mitochondrial ribosomal protein S18B							93.0	99.0	97.0					6																	30593484		1510	2709	4219	SO:0001819	synonymous_variant	28973				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr6:30593484C>T	AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.687C>T	6.37:g.30593484C>T						MRPS18B_ENST00000506373.2_3'UTR|MRPS18B_ENST00000472229.1_3'UTR	p.G229G	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN			7	844	+			229					A6NDQ0|Q659G4|Q9BS27	Silent	SNP	ENST00000259873.4	37	c.687C>T	CCDS4682.1																																																																																				0.592	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			13	67	0	0	0	1	0	13	67				
PRDM2	7799	broad.mit.edu	37	1	14108529	14108529	+	Silent	SNP	G	G	C			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr1:14108529G>C	ENST00000235372.7	+	8	5095	c.4239G>C	c.(4237-4239)tcG>tcC	p.S1413S	PRDM2_ENST00000413440.1_Silent_p.S1212S|PRDM2_ENST00000343137.4_Silent_p.S1212S|PRDM2_ENST00000311066.5_Silent_p.S1413S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1413	Arg/Lys-rich (basic).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S1413S(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCAAAATGTCGTCGAATAAGC	0.393																																						ENST00000235372.7																			1	Substitution - coding silent(1)	p.S1413S(1)	lung(1)	endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(4237-4239)tcG>tcC		PR domain containing 2, with ZNF domain							69.0	74.0	72.0					1																	14108529		2203	4300	6503	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108529G>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4239G>C	1.37:g.14108529G>C						PRDM2_ENST00000413440.1_Silent_p.S1212S|PRDM2_ENST00000311066.5_Silent_p.S1413S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Silent_p.S1212S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron	p.S1413S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	5095	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1413			Arg/Lys-rich (basic).		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.4239G>C	CCDS150.1																																																																																				0.393	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		30	55	0	0	0	1	0	30	55				
DPM1	8813	broad.mit.edu	37	20	49557452	49557452	+	Missense_Mutation	SNP	T	T	A			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr20:49557452T>A	ENST00000371588.5	-	7	539	c.513A>T	c.(511-513)ttA>ttT	p.L171F	RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371583.5_Missense_Mutation_p.L166F|AL034553.1_ENST00000584882.1_RNA|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371582.4_Missense_Mutation_p.L198F	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	171					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AGATCTGAGTTAAAAAATTGG	0.343																																						ENST00000371582.4																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						c.(592-594)ttA>ttT		dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit							58.0	64.0	62.0					20																	49557452		2203	4300	6503	SO:0001583	missense	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49557452T>A	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.513A>T	20.37:g.49557452T>A	ENSP00000360644:p.Leu171Phe					DPM1_ENST00000466152.1_5'UTR|RP5-914P20.5_ENST00000558899.2_RNA|DPM1_ENST00000371588.5_Missense_Mutation_p.L171F|DPM1_ENST00000371583.5_Missense_Mutation_p.L166F	p.L198F			O60762	DPM1_HUMAN			8	625	-			171					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.594A>T	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.07|15.07	2.723187|2.723187	0.48728|0.48728	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082|ENST00000371584	T;T;T;T|.	0.60171|.	0.21;0.21;0.21;0.21|.	5.93|5.93	2.41|2.41	0.29592|0.29592	Glycosyl transferase, family 2 (1);|.	0.356454|.	0.34245|.	N|.	0.004123|.	T|T	0.57344|0.57344	0.2047|0.2047	M|M	0.62723|0.62723	1.935|1.935	0.39336|0.39336	D|D	0.9655|0.9655	B;B|.	0.28850|.	0.225;0.112|.	B;B|.	0.37387|.	0.248;0.248|.	T|T	0.51826|0.51826	-0.8656|-0.8656	9|5	.|.	.|.	.|.	-5.2211|-5.2211	4.7284|4.7284	0.12952|0.12952	0.1182:0.0658:0.1237:0.6924|0.1182:0.0658:0.1237:0.6924	.|.	171;206|.	O60762;E9PBD4|.	DPM1_HUMAN;.|.	F|Y	171;198;206;166;166|206	ENSP00000360644:L171F;ENSP00000360638:L198F;ENSP00000360639:L166F;ENSP00000394921:L166F|.	.|.	L|N	-|-	3|1	2|0	DPM1|DPM1	48990859|48990859	0.998000|0.998000	0.40836|0.40836	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	0.476000|0.476000	0.22180|0.22180	0.134000|0.134000	0.18681|0.18681	0.533000|0.533000	0.62120|0.62120	TTA|AAC		0.343	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		26	64	0	0	0	1	0	26	64				
CCR5	1234	broad.mit.edu	37	3	46415244	46415244	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr3:46415244C>G	ENST00000292303.4	+	2	997	c.851C>G	c.(850-852)aCt>aGt	p.T284S	CCR5_ENST00000343801.4_Missense_Mutation_p.T284S|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000445772.1_Missense_Mutation_p.T284S	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	284					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GTGACAGAGACTCTTGGGATG	0.468																																						ENST00000343801.4																			0				central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(850-852)aCt>aGt		chemokine (C-C motif) receptor 5 (gene/pseudogene)	Maraviroc(DB04835)						249.0	241.0	244.0					3																	46415244		2203	4296	6499	SO:0001583	missense	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46415244C>G		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.851C>G	3.37:g.46415244C>G	ENSP00000292303:p.Thr284Ser					CCR5_ENST00000445772.1_Missense_Mutation_p.T284S|CCR5_ENST00000292303.4_Missense_Mutation_p.T284S|RP11-24F11.2_ENST00000451485.1_RNA	p.T284S	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	3	1208	+			284					O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Missense_Mutation	SNP	ENST00000292303.4	37	c.851C>G	CCDS2739.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.066934	0.55539	.	.	ENSG00000160791	ENST00000343801;ENST00000400886;ENST00000292303;ENST00000445772	T;T;T	0.71817	-0.6;-0.6;-0.6	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.118823	0.35739	U	0.003012	T	0.70237	0.3201	L	0.52364	1.645	0.26463	N	0.9754	B	0.30193	0.272	B	0.38056	0.264	T	0.67791	-0.5579	10	0.66056	D	0.02	.	14.6269	0.68626	0.1456:0.8544:0.0:0.0	.	284	P51681	CCR5_HUMAN	S	284;264;284;284	ENSP00000343985:T284S;ENSP00000292303:T284S;ENSP00000404881:T284S	ENSP00000292303:T284S	T	+	2	0	CCR5	46390248	0.312000	0.24545	0.963000	0.40424	0.976000	0.68499	1.172000	0.31908	2.676000	0.91093	0.561000	0.74099	ACT		0.468	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	NM_000579		26	269	0	0	0	1	0	26	269				
LGI1	9211	broad.mit.edu	37	10	95518093	95518093	+	Silent	SNP	C	C	G	rs556541211		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr10:95518093C>G	ENST00000371418.4	+	1	452	c.192C>G	c.(190-192)acC>acG	p.T64T	LGI1_ENST00000542308.1_Silent_p.T64T|LGI1_ENST00000371413.3_Silent_p.T64T|LGI1_ENST00000478763.1_3'UTR	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	64	LRRNT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTCCACGCACCGTTCCTCCTG	0.438																																						ENST00000371418.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29						c.(190-192)acC>acG		leucine-rich, glioma inactivated 1							159.0	153.0	155.0					10																	95518093		2203	4300	6503	SO:0001819	synonymous_variant	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95518093C>G	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.192C>G	10.37:g.95518093C>G						LGI1_ENST00000371413.3_Silent_p.T64T|LGI1_ENST00000478763.1_3'UTR|LGI1_ENST00000542308.1_Silent_p.T64T	p.T64T	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN			1	452	+		Colorectal(252;0.124)	64			LRRNT.		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	c.192C>G	CCDS7431.1																																																																																				0.438	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		7	78	0	0	0	1	0	7	78				
NDUFA9	4704	broad.mit.edu	37	12	4771727	4771727	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr12:4771727C>A	ENST00000266544.5	+	6	601	c.581C>A	c.(580-582)gCa>gAa	p.A194E	RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	194					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GTGAGAGATGCATTTCCGGAA	0.373																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(580-582)gCa>gAa		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						169.0	158.0	162.0					12																	4771727		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4771727C>A	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.581C>A	12.37:g.4771727C>A	ENSP00000266544:p.Ala194Glu						p.A194E	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			6	601	+			194					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.581C>A	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	C	3.732	-0.055359	0.07362	.	.	ENSG00000139180	ENST00000266544	D	0.93906	-3.31	5.15	2.17	0.27698	NAD(P)-binding domain (1);	0.377682	0.31859	N	0.006949	D	0.83764	0.5325	N	0.17594	0.5	0.20196	N	0.999925	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.70561	-0.4838	10	0.33940	T	0.23	-3.7303	4.6927	0.12788	0.149:0.5742:0.0:0.2769	.	194;194	A8K4V2;Q16795	.;NDUA9_HUMAN	E	194	ENSP00000266544:A194E	ENSP00000266544:A194E	A	+	2	0	NDUFA9	4641988	0.237000	0.23815	0.001000	0.08648	0.669000	0.39330	0.864000	0.27926	0.203000	0.20529	0.555000	0.69702	GCA		0.373	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		4	102	1	0	0.014758	1	0.0151269	4	102				
AK8	158067	broad.mit.edu	37	9	135730299	135730299	+	Missense_Mutation	SNP	G	G	A	rs547319863	byFrequency	TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr9:135730299G>A	ENST00000298545.3	-	5	868	c.347C>T	c.(346-348)gCg>gTg	p.A116V	AK8_ENST00000477396.1_5'UTR|RNU6-357P_ENST00000515914.1_RNA	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	116	Adenylate kinase 1.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GACGAGCAGCGCGCTGGGAAC	0.547													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20550	0.001		0.0	False		,,,				2504	0.0					ENST00000298545.3																			0				NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(346-348)gCg>gTg		adenylate kinase 8							123.0	98.0	106.0					9																	135730299		2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135730299G>A	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.347C>T	9.37:g.135730299G>A	ENSP00000298545:p.Ala116Val					AK8_ENST00000477396.1_5'UTR	p.A116V	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			5	868	-			116					A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.347C>T	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	G	6.735	0.504413	0.12822	.	.	ENSG00000165695	ENST00000298545	T	0.76968	-1.06	3.49	-6.99	0.01605	.	1.992100	0.03116	N	0.163073	T	0.60958	0.2309	L	0.29908	0.895	0.09310	N	1	B	0.32350	0.366	B	0.31495	0.131	T	0.54443	-0.8293	10	0.62326	D	0.03	-0.0246	2.198	0.03916	0.1502:0.1826:0.4415:0.2256	.	116	Q96MA6	KAD8_HUMAN	V	116	ENSP00000298545:A116V	ENSP00000298545:A116V	A	-	2	0	AK8	134720120	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.120000	0.03273	-2.493000	0.00515	-0.339000	0.08088	GCG		0.547	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		13	28	0	0	0	1	0	13	28				
TRAPPC12	51112	broad.mit.edu	37	2	3391659	3391659	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr2:3391659C>T	ENST00000324266.5	+	2	460	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R89W	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	89					vesicle-mediated transport (GO:0016192)												GGGCCGAGTGCGGGACGAAGC	0.711																																						ENST00000324266.5																			0											c.(265-267)Cgg>Tgg		trafficking protein particle complex 12							21.0	19.0	20.0					2																	3391659		2197	4290	6487	SO:0001583	missense	51112						binding	g.chr2:3391659C>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.265C>T	2.37:g.3391659C>T	ENSP00000324318:p.Arg89Trp					TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R89W	p.R89W	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN			2	460	+			89					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.265C>T	CCDS1652.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828161	0.32329	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.56275	0.47;0.47	5.21	5.21	0.72293	.	0.500306	0.21370	N	0.075645	T	0.55545	0.1927	N	0.22421	0.69	0.23758	N	0.99692	D;D;D	0.76494	0.997;0.996;0.999	B;B;P	0.57776	0.424;0.424;0.827	T	0.53443	-0.8438	10	0.72032	D	0.01	.	16.057	0.80814	0.0:1.0:0.0:0.0	.	72;89;89	E7ENL7;Q8WVT3;Q53S18	.;TPC12_HUMAN;.	W	89;72;89	ENSP00000371544:R89W;ENSP00000324318:R89W	ENSP00000303612:R72W	R	+	1	2	TTC15	3370666	1.000000	0.71417	0.989000	0.46669	0.009000	0.06853	3.149000	0.50655	2.697000	0.92050	0.563000	0.77884	CGG		0.711	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030		2	2	0	0	0	1	0	2	2				
MSANTD4	84437	broad.mit.edu	37	11	105880318	105880318	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr11:105880318G>A	ENST00000301919.4	-	3	2397	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	MSANTD4_ENST00000529805.1_5'UTR	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	328						nucleus (GO:0005634)											ACCTGTAAGCGTTCCTTTTCA	0.393																																						ENST00000301919.4																			0											c.(982-984)Cgc>Tgc		Myb/SANT-like DNA-binding domain containing 4 with coiled-coils							118.0	112.0	114.0					11																	105880318		2201	4298	6499	SO:0001583	missense	84437					nucleus		g.chr11:105880318G>A	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.982C>T	11.37:g.105880318G>A	ENSP00000304713:p.Arg328Cys					MSANTD4_ENST00000529805.1_5'UTR	p.R328C	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN			3	2397	-			328					Q96JK1|Q96JZ3|Q9H2N4	Missense_Mutation	SNP	ENST00000301919.4	37	c.982C>T	CCDS31663.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488479	0.84854	.	.	ENSG00000170903	ENST00000301919	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.46776	0.1410	L	0.27053	0.805	0.80722	D	1	D	0.54397	0.966	B	0.43225	0.412	T	0.53194	-0.8473	9	0.87932	D	0	-15.4684	19.7501	0.96265	0.0:0.0:1.0:0.0	.	328	Q8NCY6	K1826_HUMAN	C	328	.	ENSP00000304713:R328C	R	-	1	0	KIAA1826	105385528	1.000000	0.71417	0.989000	0.46669	0.898000	0.52572	8.666000	0.91149	2.667000	0.90743	0.491000	0.48974	CGC		0.393	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		17	72	0	0	0	1	0	17	72				
TUBG2	27175	broad.mit.edu	37	17	40818390	40818390	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr17:40818390T>G	ENST00000251412.7	+	10	1245	c.1046T>G	c.(1045-1047)aTc>aGc	p.I349S	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	349					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCCAACTTCATCCCGTGGGGC	0.662																																						ENST00000251412.7																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(1045-1047)aTc>aGc		tubulin, gamma 2							54.0	55.0	55.0					17																	40818390		2203	4300	6503	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40818390T>G	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.1046T>G	17.37:g.40818390T>G	ENSP00000251412:p.Ile349Ser						p.I349S	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	10	1245	+		Breast(137;0.00116)	349					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.1046T>G	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	T	17.32	3.360288	0.61403	.	.	ENSG00000037042	ENST00000251412	D	0.85171	-1.95	5.85	3.63	0.41609	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92789	0.7707	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91436	0.5170	10	0.87932	D	0	-30.8929	7.8971	0.29712	0.1231:0.0663:0.0:0.8105	.	349	Q9NRH3	TBG2_HUMAN	S	349	ENSP00000251412:I349S	ENSP00000251412:I349S	I	+	2	0	TUBG2	38071916	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.903000	0.87398	0.470000	0.27294	0.533000	0.62120	ATC		0.662	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		13	25	0	0	0	1	0	13	25				
LCT	3938	broad.mit.edu	37	2	136567051	136567051	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr2:136567051A>C	ENST00000264162.2	-	8	2876	c.2866T>G	c.(2866-2868)Tat>Gat	p.Y956D	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	956	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGCTGGTGATAGCTGTCACAG	0.527																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2866-2868)Tat>Gat		lactase							97.0	94.0	95.0					2																	136567051		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136567051A>C	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2866T>G	2.37:g.136567051A>C	ENSP00000264162:p.Tyr956Asp						p.Y956D	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	2876	-			956			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2866T>G	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097909	0.76870	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.58060	0.36	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84056	0.5388	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90698	0.4618	10	0.87932	D	0	-19.6265	16.1146	0.81295	1.0:0.0:0.0:0.0	.	956	P09848	LPH_HUMAN	D	956;388	ENSP00000264162:Y956D	ENSP00000264162:Y956D	Y	-	1	0	LCT	136283521	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	9.339000	0.96797	2.200000	0.70718	0.460000	0.39030	TAT		0.527	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		25	56	0	0	0	1	0	25	56				
COL27A1	85301	broad.mit.edu	37	9	116931620	116931620	+	Silent	SNP	G	G	A			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr9:116931620G>A	ENST00000356083.3	+	3	2176	c.1785G>A	c.(1783-1785)gcG>gcA	p.A595A		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	595	Pro-rich.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGCCCCGGCGCAATTCCTGT	0.657																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(1783-1785)gcG>gcA		collagen, type XXVII, alpha 1							55.0	65.0	61.0					9																	116931620		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116931620G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.1785G>A	9.37:g.116931620G>A							p.A595A	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	2176	+			595			Pro-rich.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.1785G>A	CCDS6802.1																																																																																				0.657	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		23	52	0	0	0	1	0	23	52				
ZNF91	7644	broad.mit.edu	37	19	23544340	23544340	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr19:23544340T>C	ENST00000300619.7	-	4	1646	c.1441A>G	c.(1441-1443)Aag>Gag	p.K481E	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.K449E	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	481					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTATCCTCTTATGTCTAGTT	0.363																																						ENST00000300619.7																			0											c.(1441-1443)Aag>Gag		zinc finger protein 91							49.0	53.0	52.0					19																	23544340		2135	4253	6388	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544340T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1441A>G	19.37:g.23544340T>C	ENSP00000300619:p.Lys481Glu					ZNF91_ENST00000397082.2_Missense_Mutation_p.K449E|ZNF91_ENST00000599743.1_Intron	p.K481E	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1646	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	481					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1441A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702047	0.30232	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.18016	2.24;2.24	1.71	-1.32	0.09201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09202	0.0227	N	0.01624	-0.795	0.09310	N	0.999997	D;B	0.54207	0.965;0.037	P;B	0.54590	0.756;0.034	T	0.18335	-1.0340	9	0.59425	D	0.04	.	4.1831	0.10385	0.0:0.1885:0.4833:0.3281	.	449;481	Q05481-2;Q05481	.;ZNF91_HUMAN	E	481;449	ENSP00000300619:K481E;ENSP00000380272:K449E	ENSP00000300619:K481E	K	-	1	0	ZNF91	23336180	0.224000	0.23674	0.005000	0.12908	0.103000	0.19146	0.738000	0.26158	-0.043000	0.13513	0.172000	0.16884	AAG		0.363	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		31	70	0	0	0	1	0	31	70				
ERBB4	2066	broad.mit.edu	37	2	212293169	212293169	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr2:212293169T>C	ENST00000342788.4	-	22	2993	c.2683A>G	c.(2683-2685)Agg>Ggg	p.R895G	ERBB4_ENST00000402597.1_Missense_Mutation_p.R885G|ERBB4_ENST00000436443.1_Missense_Mutation_p.R895G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	895	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTGAATTTCCTGTAATGTATA	0.299										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2683-2685)Agg>Ggg		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							89.0	91.0	91.0					2																	212293169		2203	4295	6498	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212293169T>C	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2683A>G	2.37:g.212293169T>C	ENSP00000342235:p.Arg895Gly	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.R885G|ERBB4_ENST00000436443.1_Missense_Mutation_p.R895G	p.R895G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	22	2993	-		Renal(323;0.06)|Lung NSC(271;0.197)	895			Protein kinase.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2683A>G	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.574195	0.65878	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.82344	-1.6;-1.6;-1.6	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.040231	0.85682	D	0.000000	T	0.75170	0.3813	N	0.04655	-0.195	0.80722	D	1	D;B;D;D	0.58620	0.979;0.288;0.979;0.983	P;B;P;P	0.52309	0.569;0.347;0.569;0.695	T	0.78463	-0.2194	10	0.33940	T	0.23	.	15.7639	0.78110	0.0:0.0:0.0:1.0	.	885;885;895;895	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	G	895;895;885	ENSP00000342235:R895G;ENSP00000403204:R895G;ENSP00000385565:R885G	ENSP00000342235:R895G	R	-	1	2	ERBB4	212001414	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	6.019000	0.70818	2.125000	0.65367	0.528000	0.53228	AGG		0.299	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		29	94	0	0	0	1	0	29	94				
AGO4	192670	broad.mit.edu	37	1	36307352	36307352	+	Splice_Site	SNP	G	G	A			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr1:36307352G>A	ENST00000373210.3	+	15	2420		c.e15+1		AGO4_ENST00000488778.1_Splice_Site	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										AACAGAAAGGGTAAGAAGATA	0.313																																						ENST00000373210.3																			0											c.e15+1		argonaute RISC catalytic component 4							63.0	66.0	65.0					1																	36307352		2203	4300	6503	SO:0001630	splice_region_variant	192670							g.chr1:36307352G>A	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2175+1G>A	1.37:g.36307352G>A						AGO4_ENST00000488778.1_Splice_Site		NM_017629.3	NP_060099.2					15	2420	+								A7MD27	Splice_Site	SNP	ENST00000373210.3	37		CCDS397.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059666	0.76074	.	.	ENSG00000134698	ENST00000373210	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2728	0.94018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF2C4	36079939	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.737000	0.98831	2.554000	0.86153	0.563000	0.77884	.		0.313	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629	Intron	13	54	0	0	0	1	0	13	54				
FH	2271	broad.mit.edu	37	1	241671932	241671932	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr1:241671932G>T	ENST00000366560.3	-	5	747	c.709C>A	c.(709-711)Cag>Aag	p.Q237K		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	237					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACAGCATCCTGAGTATGAGTA	0.398			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3			yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(709-711)Cag>Aag		fumarate hydratase							136.0	127.0	130.0					1																	241671932		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241671932G>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.709C>A	1.37:g.241671932G>T	ENSP00000355518:p.Gln237Lys						p.Q237K	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	5	747	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	237					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.709C>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046699	0.93740	.	.	ENSG00000091483	ENST00000366560	D	0.99685	-6.4	5.65	5.65	0.86999	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	H	0.96015	3.755	0.80722	D	1	D	0.63880	0.993	P	0.62382	0.901	D	0.97280	0.9917	10	0.87932	D	0	-19.4475	17.5778	0.87956	0.0:0.0:1.0:0.0	.	237	P07954	FUMH_HUMAN	K	237	ENSP00000355518:Q237K	ENSP00000355518:Q237K	Q	-	1	0	FH	239738555	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	9.420000	0.97426	2.825000	0.97269	0.655000	0.94253	CAG		0.398	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		5	62	1	0	1.23904e-05	1	1.30258e-05	5	62				
SALL1	6299	broad.mit.edu	37	16	51175661	51175661	+	Missense_Mutation	SNP	T	T	C	rs139646526	byFrequency	TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr16:51175661T>C	ENST00000251020.4	-	2	505	c.472A>G	c.(472-474)Agc>Ggc	p.S158G	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S61G|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158	Poly-Ser.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgctgctgctgctgctg	0.632													t|||	22	0.00439297	0.0113	0.0043	5008	,	,		12583	0.002		0.002	False		,,,				2504	0.0				GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(181-183)Agc>Ggc		spalt-like transcription factor 1		C	GLY/SER,GLY/SER	15,4347		0,15,2166	22.0	25.0	24.0		472,181	-0.4	0.0	16	dbSNP_134	24	6,8538		0,6,4266	no	missense,missense	SALL1	NM_002968.2,NM_001127892.1	56,56	0,21,6432	CC,CT,TT		0.0702,0.3439,0.1627	benign,benign	158/1325,61/1228	51175661	21,12885	2181	4272	6453	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175661T>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.472A>G	16.37:g.51175661T>C	ENSP00000251020:p.Ser158Gly					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G|SALL1_ENST00000566102.1_Intron	p.S61G	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	612	-		all_cancers(37;0.0322)	158					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.181A>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-4.558861	0.00000	0.003439	7.02E-4	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06142	3.35;3.34	0.225	-0.451	0.12214	.	0.955374	0.08430	N	0.947112	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.44390	-0.9331	9	0.16896	T	0.51	.	.	.	.	.	158	Q9NSC2	SALL1_HUMAN	G	158;61;122	ENSP00000251020:S158G;ENSP00000407914:S61G	ENSP00000251020:S158G	S	-	1	0	SALL1	49733162	0.610000	0.26983	0.003000	0.11579	0.002000	0.02628	0.506000	0.22658	-2.764000	0.00368	-2.812000	0.00111	AGC		0.632	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		4	43	0	0	0	1	0	4	43				
CUL3	8452	broad.mit.edu	37	2	225371708	225371708	+	Missense_Mutation	SNP	A	A	C			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr2:225371708A>C	ENST00000264414.4	-	7	1234	c.896T>G	c.(895-897)aTg>aGg	p.M299R	CUL3_ENST00000409777.1_Missense_Mutation_p.M275R|CUL3_ENST00000409096.1_Missense_Mutation_p.M275R|CUL3_ENST00000344951.4_Missense_Mutation_p.M233R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	299					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.M299R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TAACTTGTACATGCAACCAAG	0.358																																						ENST00000264414.4																			1	Substitution - Missense(1)	p.M299R(1)	prostate(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(895-897)aTg>aGg		cullin 3							81.0	71.0	74.0					2																	225371708		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225371708A>C	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.896T>G	2.37:g.225371708A>C	ENSP00000264414:p.Met299Arg					CUL3_ENST00000409096.1_Missense_Mutation_p.M275R|CUL3_ENST00000409777.1_Missense_Mutation_p.M275R|CUL3_ENST00000344951.4_Missense_Mutation_p.M233R	p.M299R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	7	1234	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	299					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.896T>G	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685114	0.88639	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.62	5.62	0.85841	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	H	0.95645	3.7	0.80722	D	1	D;D;D	0.56968	0.973;0.978;0.978	P;P;P	0.61397	0.822;0.888;0.888	D	0.94256	0.7498	10	0.87932	D	0	.	15.8227	0.78673	1.0:0.0:0.0:0.0	.	233;277;299	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	R	299;233;275;275	ENSP00000264414:M299R;ENSP00000343601:M233R;ENSP00000387200:M275R;ENSP00000386525:M275R	ENSP00000264414:M299R	M	-	2	0	CUL3	225079952	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.932000	0.92897	2.155000	0.67459	0.482000	0.46254	ATG		0.358	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			11	29	0	0	0	1	0	11	29				
WDR93	56964	broad.mit.edu	37	15	90258216	90258216	+	Missense_Mutation	SNP	G	G	A	rs376704792		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr15:90258216G>A	ENST00000268130.7	+	6	747	c.646G>A	c.(646-648)Gga>Aga	p.G216R	WDR93_ENST00000560294.1_Missense_Mutation_p.G216R|RNU6-132P_ENST00000383863.1_RNA	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	216					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TGCAGGAGCCGGAGATATTTG	0.453																																						ENST00000268130.7																			0				NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33						c.(646-648)Gga>Aga		WD repeat domain 93		G	ARG/GLY	0,4400		0,0,2200	65.0	61.0	62.0		646	4.5	1.0	15		62	1,8597	1.2+/-3.3	0,1,4298	no	missense	WDR93	NM_020212.1	125	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	216/687	90258216	1,12997	2200	4299	6499	SO:0001583	missense	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90258216G>A		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.646G>A	15.37:g.90258216G>A	ENSP00000268130:p.Gly216Arg					WDR93_ENST00000560294.1_Missense_Mutation_p.G216R	p.G216R	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		6	747	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		216					Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	c.646G>A	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.939931	0.73557	0.0	1.16E-4	ENSG00000140527	ENST00000268130	T	0.24151	1.87	5.44	4.53	0.55603	WD40 repeat-like-containing domain (1);	0.065012	0.64402	D	0.000016	T	0.48370	0.1496	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.48833	-0.9000	10	0.59425	D	0.04	-12.2058	10.1285	0.42665	0.0926:0.0:0.9074:0.0	.	216;216	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	R	216	ENSP00000268130:G216R	ENSP00000268130:G216R	G	+	1	0	WDR93	88059220	0.988000	0.35896	0.964000	0.40570	0.988000	0.76386	3.261000	0.51530	1.294000	0.44707	0.561000	0.74099	GGA		0.453	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		8	29	0	0	0	1	0	8	29				
PRSS8	5652	broad.mit.edu	37	16	31143854	31143854	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr16:31143854A>T	ENST00000317508.6	-	5	864	c.601T>A	c.(601-603)Tgt>Agt	p.C201S	PRSS8_ENST00000568261.1_Missense_Mutation_p.C147S|RP11-388M20.2_ENST00000563605.1_RNA	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	201	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						AGGCAGTTACACGTCTCACGA	0.607																																						ENST00000317508.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(601-603)Tgt>Agt		protease, serine, 8							106.0	113.0	110.0					16																	31143854		2130	4239	6369	SO:0001583	missense	5652				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr16:31143854A>T	U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.601T>A	16.37:g.31143854A>T	ENSP00000319730:p.Cys201Ser					PRSS8_ENST00000568261.1_Missense_Mutation_p.C147S	p.C201S	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN			5	864	-			201			Peptidase S1.		B4DWP2|Q9UCA3	Missense_Mutation	SNP	ENST00000317508.6	37	c.601T>A	CCDS45469.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.602710	0.66445	.	.	ENSG00000052344	ENST00000317508;ENST00000419768	D	0.96967	-4.19	5.43	5.43	0.79202	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000005	D	0.98707	0.9566	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99701	1.1004	10	0.87932	D	0	.	14.4785	0.67564	1.0:0.0:0.0:0.0	.	147;201	B4DWP2;Q16651	.;PRSS8_HUMAN	S	201;119	ENSP00000319730:C201S	ENSP00000319730:C201S	C	-	1	0	PRSS8	31051355	0.988000	0.35896	0.665000	0.29768	0.139000	0.21198	4.566000	0.60843	2.066000	0.61787	0.533000	0.62120	TGT		0.607	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433536.1	NM_002773		20	51	0	0	0	1	0	20	51				
ANK1	286	broad.mit.edu	37	8	41615618	41615618	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr8:41615618G>A	ENST00000347528.4	-	2	148	c.65C>T	c.(64-66)tCa>tTa	p.S22L	ANK1_ENST00000396942.1_Missense_Mutation_p.S22L|ANK1_ENST00000289734.7_Missense_Mutation_p.S22L|ANK1_ENST00000352337.4_Missense_Mutation_p.S22L|ANK1_ENST00000396945.1_Missense_Mutation_p.S22L|ANK1_ENST00000265709.8_Missense_Mutation_p.S55L|ANK1_ENST00000379758.2_Missense_Mutation_p.S22L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	22	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.S22L(1)|p.S55L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAAGTTACCTGATCTTGCTGC	0.507																																						ENST00000396942.1																			2	Substitution - Missense(2)	p.S22L(1)|p.S55L(1)	urinary_tract(2)	breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(64-66)tCa>tTa		ankyrin 1, erythrocytic							290.0	276.0	281.0					8																	41615618		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41615618G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.65C>T	8.37:g.41615618G>A	ENSP00000339620:p.Ser22Leu					ANK1_ENST00000347528.4_Missense_Mutation_p.S22L|ANK1_ENST00000265709.8_Missense_Mutation_p.S55L|ANK1_ENST00000289734.7_Missense_Mutation_p.S22L|ANK1_ENST00000379758.2_Missense_Mutation_p.S22L|ANK1_ENST00000352337.4_Missense_Mutation_p.S22L|ANK1_ENST00000396945.1_Missense_Mutation_p.S22L	p.S22L			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		2	148	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	22			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.65C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232211	0.95207	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.54	5.54	0.83059	Ankyrin repeat-containing domain (2);	0.068643	0.64402	D	0.000012	T	0.74068	0.3668	L	0.46670	1.46	0.58432	D	0.999999	P;P;B;D;P	0.65815	0.904;0.913;0.36;0.995;0.951	P;P;B;D;P	0.63488	0.767;0.713;0.128;0.915;0.767	T	0.74538	-0.3632	10	0.62326	D	0.03	.	19.8467	0.96710	0.0:0.0:1.0:0.0	.	55;22;22;22;22	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	L	22;22;22;22;22;22;55;22	ENSP00000339620:S22L;ENSP00000289734:S22L;ENSP00000369082:S22L;ENSP00000380149:S22L;ENSP00000380147:S22L;ENSP00000309131:S22L;ENSP00000265709:S55L	ENSP00000265709:S55L	S	-	2	0	ANK1	41734775	1.000000	0.71417	0.957000	0.39632	0.996000	0.88848	9.050000	0.93843	2.769000	0.95229	0.563000	0.77884	TCA		0.507	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		25	807	0	0	0	1	0	25	807				
FBXO42	54455	broad.mit.edu	37	1	16621337	16621337	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr1:16621337A>G	ENST00000375592.3	-	4	659	c.443T>C	c.(442-444)tTc>tCc	p.F148S	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	148										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		GAGGTCATTGAAAGCAGCATT	0.433																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(442-444)tTc>tCc		F-box protein 42							131.0	117.0	122.0					1																	16621337		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16621337A>G	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.443T>C	1.37:g.16621337A>G	ENSP00000364742:p.Phe148Ser					FBXO42_ENST00000478089.1_5'UTR	p.F148S	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	4	659	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	148					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.443T>C	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633656	0.87660	.	.	ENSG00000037637	ENST00000375592	T	0.38401	1.14	4.95	4.95	0.65309	Kelch-type beta propeller (1);	0.053638	0.85682	N	0.000000	T	0.58722	0.2142	M	0.71871	2.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62011	-0.6944	10	0.56958	D	0.05	-18.5251	14.0975	0.65032	1.0:0.0:0.0:0.0	.	148	Q6P3S6	FBX42_HUMAN	S	148	ENSP00000364742:F148S	ENSP00000364742:F148S	F	-	2	0	FBXO42	16493924	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.987000	0.93497	2.013000	0.59113	0.260000	0.18958	TTC		0.433	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			3	60	0	0	0	1	0	3	60				
SEMA7A	8482	broad.mit.edu	37	15	74703250	74703250	+	Silent	SNP	G	G	A	rs199507109		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr15:74703250G>A	ENST00000261918.4	-	14	2264	c.1716C>T	c.(1714-1716)caC>caT	p.H572H	SEMA7A_ENST00000542748.1_Silent_p.H407H|SEMA7A_ENST00000543145.2_Silent_p.H558H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	572	Ig-like C2-type.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						AGTAGGTGGCGTGGCGGGATT	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19090	0.0		0.0	False		,,,				2504	0.0					ENST00000261918.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						c.(1714-1716)caC>caT		semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)		G	,,	1,4393	2.1+/-5.4	0,1,2196	102.0	103.0	103.0		1674,1221,1716	-3.7	1.0	15		103	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	0,1,6492	AA,AG,GG		0.0,0.0228,0.0077	,,	558/653,407/502,572/667	74703250	1,12985	2197	4296	6493	SO:0001819	synonymous_variant	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74703250G>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1716C>T	15.37:g.74703250G>A						SEMA7A_ENST00000543145.2_Silent_p.H558H|SEMA7A_ENST00000542748.1_Silent_p.H407H	p.H572H	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN			14	2264	-			572			Ig-like C2-type.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	ENST00000261918.4	37	c.1716C>T	CCDS10262.1																																																																																				0.622	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		16	60	0	0	0	1	0	16	60				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	30	0	0	0	1	0	3	30				
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080|rs190692498		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AAAGCAATGTGGATAAAGGGAC	0.431																																						ENST00000411500.1																			0																																																			0							g.chr6:32523362_32523363insGATA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523363_32523366dupGATA								NR_001298.1						0	458	-									RNA	INS	ENST00000411500.1	37																																																																																						0.431	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	5						3	5	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48411971	48411972	+	Frame_Shift_Ins	INS	-	-	T			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr7:48411971_48411972insT	ENST00000435803.1	+	33	11034_11035	c.11010_11011insT	c.(11011-11013)tttfs	p.F3671fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3671					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTGAGTGCATTTTTCAGCCA	0.426																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11008-11013)gcttttfs		ATP-binding cassette, sub-family A (ABC1), member 13																																				SO:0001589	frameshift_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411971_48411972insT	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11015dupT	7.37:g.48411976_48411976dupT	ENSP00000411096:p.Phe3671fs						p.AF3670fs	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			33	11034_11035	+			3670					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Frame_Shift_Ins	INS	ENST00000435803.1	37	c.11010_11011insT	CCDS47584.1																																																																																				0.426	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		18	182						18	182	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74186068	74186069	+	Frame_Shift_Ins	INS	-	-	T	rs111577434		TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr14:74186068_74186069insT	ENST00000286523.5	-	12	3855_3856	c.3073_3074insA	c.(3073-3075)acafs	p.T1025fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.T1025fs	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	1025					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GAATGTCTCTGTTTTTTTCTTC	0.569																																						ENST00000286523.5																			0											c.(3073-3075)agafs		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001589	frameshift_variant	91748							g.chr14:74186068_74186069insT	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.3074dupA	14.37:g.74186075_74186075dupT	ENSP00000286523:p.Thr1025fs					ELMSAN1_ENST00000394071.2_Frame_Shift_Ins_p.R1025fs	p.R1025fs	NM_194278.3	NP_919254.2					12	3855_3856	-								Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Ins	INS	ENST00000286523.5	37	c.3073_3074insA	CCDS9819.1																																																																																				0.569	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		8	21						8	21	---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78786337	78786337	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V1-A9Z7-01A-11D-A41K-08	TCGA-V1-A9Z7-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10f30605-2413-49d7-a9e7-042fb7c2c336	87158802-66e8-4c56-9f08-3cb5033e6cb4	g.chr15:78786337delT	ENST00000258886.8	+	19	2560	c.2411delT	c.(2410-2412)cttfs	p.L804fs		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	804					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AATATCAAGCTTTTTAATAAG	0.363																																					NSCLC(200;764 2208 35157 49871 50830)	ENST00000258886.8																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2410-2412)ctfs		iron-responsive element binding protein 2							72.0	76.0	74.0					15																	78786337		2196	4293	6489	SO:0001589	frameshift_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78786337delT	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2411delT	15.37:g.78786337delT	ENSP00000258886:p.Leu804fs						p.L804fs	NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	19	2560	+			804					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Frame_Shift_Del	DEL	ENST00000258886.8	37	c.2411delT	CCDS10302.1																																																																																				0.363	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		25	55						25	55	---	---	---	---
