#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
TGOLN2	10618	broad.mit.edu	37	2	85554507	85554507	+	Silent	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:85554507C>T	ENST00000409232.3	-	2	409	c.348G>A	c.(346-348)gcG>gcA	p.A116A	TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000377386.3_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000444342.2_Silent_p.A116A			O43493	TGON2_HUMAN	trans-golgi network protein 2	116	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											TTGTGGTCTGCGCCTCCGAAC	0.572																																						ENST00000377386.3																			0											c.(346-348)gcG>gcA		trans-golgi network protein 2							384.0	382.0	383.0					2																	85554507		1999	4165	6164	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554507C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.348G>A	2.37:g.85554507C>T						TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000409232.3_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Silent_p.A116A	p.A116A			O43493	TGON2_HUMAN			2	810	-			116			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.348G>A	CCDS56126.1																																																																																				0.572	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		6	909	0	0	0	1	0	6	909				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			3	13	0	0	0	1	0	3	13				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		33	50	0	0	0	1	0	33	50				
PSG11	5680	broad.mit.edu	37	19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443																																						ENST00000401740.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(280-282)Gca>Aca		pregnancy specific beta-1-glycoprotein 11							247.0	230.0	236.0					19																	43528993		2199	4298	6497	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43528993C>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.280G>A	19.37:g.43528993C>T	ENSP00000384995:p.Ala94Thr					PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000403486.1_Intron	p.A94T			Q9UQ72	PSG11_HUMAN			2	383	-		Prostate(69;0.00682)	94			Ig-like V-type.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.280G>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	9.498	1.102465	0.20632	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.66280	-0.2;-0.2	0.929	-1.86	0.07760	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64023	0.2561	M	0.80746	2.51	0.09310	N	1	B	0.25563	0.129	B	0.39904	0.313	T	0.63812	-0.6552	9	0.62326	D	0.03	.	2.5413	0.04726	0.0:0.4411:0.3119:0.247	.	94	Q9UQ72	PSG11_HUMAN	T	94	ENSP00000319140:A94T;ENSP00000384995:A94T	ENSP00000319140:A94T	A	-	1	0	PSG11	48220833	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.352000	0.07701	-0.979000	0.03529	-1.140000	0.01884	GCA		0.443	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		6	322	0	0	0	1	0	6	322				
TLN1	7094	broad.mit.edu	37	9	35700005	35700005	+	Missense_Mutation	SNP	T	T	C	rs368513332		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr9:35700005T>C	ENST00000314888.9	-	50	7087	c.6734A>G	c.(6733-6735)aAt>aGt	p.N2245S	TLN1_ENST00000540444.1_Missense_Mutation_p.N2133S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2245					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGGTAGCCATTGGCACACTC	0.567																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(6733-6735)aAt>aGt		talin 1		T	SER/ASN	0,4406		0,0,2203	86.0	81.0	83.0		6734	5.4	1.0	9		83	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLN1	NM_006289.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	2245/2542	35700005	1,13005	2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35700005T>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6734A>G	9.37:g.35700005T>C	ENSP00000316029:p.Asn2245Ser					TLN1_ENST00000540444.1_Missense_Mutation_p.N2133S	p.N2245S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		50	7087	-	all_epithelial(49;0.167)		2245					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.6734A>G	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	T	6.944	0.544053	0.13312	0.0	1.16E-4	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.68181	-0.31;-0.3	5.37	5.37	0.77165	.	0.378995	0.29676	N	0.011490	T	0.38746	0.1052	N	0.08118	0	0.24732	N	0.993083	B	0.06786	0.001	B	0.04013	0.001	T	0.24083	-1.0170	10	0.09590	T	0.72	-16.2867	5.7532	0.18158	0.1501:0.0798:0.0:0.7701	.	2245	Q9Y490	TLN1_HUMAN	S	2245;2133	ENSP00000316029:N2245S;ENSP00000442981:N2133S	ENSP00000316029:N2245S	N	-	2	0	TLN1	35690005	0.759000	0.28416	1.000000	0.80357	0.998000	0.95712	1.144000	0.31565	2.035000	0.60131	0.533000	0.62120	AAT		0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		24	37	0	0	0	1	0	24	37				
STK17B	9262	broad.mit.edu	37	2	197002362	197002362	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:197002362A>G	ENST00000263955.4	-	8	1214	c.928T>C	c.(928-930)Tcc>Ccc	p.S310P	STK17B_ENST00000409228.1_Missense_Mutation_p.S310P	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	310	Poly-Ser.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of fibroblast apoptotic process (GO:2000271)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GTTTGAGAGGAACTGGAAGTT	0.413																																						ENST00000263955.4																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15						c.(928-930)Tcc>Ccc		serine/threonine kinase 17b							111.0	109.0	110.0					2																	197002362		2203	4300	6503	SO:0001583	missense	9262				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:197002362A>G	AB011421	CCDS2315.1	2q33.1	2008-02-05	2007-02-12		ENSG00000081320	ENSG00000081320			11396	protein-coding gene	gene with protein product	"""death-associated protein kinase-related 2"""	604727	"""serine/threonine kinase 17b (apoptosis-inducing)"""			9786912	Standard	NM_004226		Approved	DRAK2	uc002utk.3	O94768	OTTHUMG00000132735	ENST00000263955.4:c.928T>C	2.37:g.197002362A>G	ENSP00000263955:p.Ser310Pro					STK17B_ENST00000409228.1_Missense_Mutation_p.S310P	p.S310P	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.141)		8	1214	-			310			Poly-Ser.			Missense_Mutation	SNP	ENST00000263955.4	37	c.928T>C	CCDS2315.1	.	.	.	.	.	.	.	.	.	.	A	7.623	0.677307	0.14841	.	.	ENSG00000081320	ENST00000263955;ENST00000409228	T;T	0.49139	0.79;0.79	4.84	0.993	0.19825	Protein kinase-like domain (1);	0.275586	0.26122	N	0.026203	T	0.20495	0.0493	N	0.08118	0	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.16276	-1.0408	10	0.16896	T	0.51	.	5.3557	0.16059	0.5684:0.2791:0.1525:0.0	.	310	O94768	ST17B_HUMAN	P	310	ENSP00000263955:S310P;ENSP00000386853:S310P	ENSP00000263955:S310P	S	-	1	0	STK17B	196710607	0.462000	0.25791	0.237000	0.24090	0.882000	0.50991	0.787000	0.26858	0.021000	0.15133	0.528000	0.53228	TCC		0.413	STK17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256092.2			25	76	0	0	0	1	0	25	76				
BARD1	580	broad.mit.edu	37	2	215593563	215593563	+	Missense_Mutation	SNP	G	G	A	rs587782662		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:215593563G>A	ENST00000260947.4	-	11	2305	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	BARD1_ENST00000449967.2_3'UTR|BARD1_ENST00000432456.1_Missense_Mutation_p.A95V	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	724	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCGGGTCTCGCATGGTATGC	0.498									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(2170-2172)gCg>gTg		BRCA1 associated RING domain 1							154.0	119.0	131.0					2																	215593563		2203	4300	6503	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215593563G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.2171C>T	2.37:g.215593563G>A	ENSP00000260947:p.Ala724Val					BARD1_ENST00000432456.1_Missense_Mutation_p.A95V|BARD1_ENST00000449967.2_3'UTR	p.A724V	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	11	2305	-		Renal(323;0.0243)	724			BRCT 2.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.2171C>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082668	0.76528	.	.	ENSG00000138376	ENST00000260947;ENST00000432456	T;T	0.77750	-1.12;1.76	5.81	5.81	0.92471	BRCT (3);	0.000000	0.85682	D	0.000000	D	0.86752	0.6008	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86783	0.1980	10	0.72032	D	0.01	-17.2398	20.0912	0.97820	0.0:0.0:1.0:0.0	.	724	Q99728	BARD1_HUMAN	V	724;95	ENSP00000260947:A724V;ENSP00000405020:A95V	ENSP00000260947:A724V	A	-	2	0	BARD1	215301808	1.000000	0.71417	0.871000	0.34182	0.076000	0.17211	9.434000	0.97515	2.746000	0.94184	0.591000	0.81541	GCG		0.498	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		26	32	0	0	0	1	0	26	32				
PRICKLE2	166336	broad.mit.edu	37	3	64085509	64085509	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr3:64085509C>T	ENST00000295902.6	-	8	2338	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E641K|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	585					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCAGCTTCTCAGACACATTC	0.562																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(1753-1755)Gag>Aag		prickle homolog 2 (Drosophila)							142.0	145.0	144.0					3																	64085509		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085509C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1753G>A	3.37:g.64085509C>T	ENSP00000295902:p.Glu585Lys					RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.E641K	p.E585K	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2338	-		Lung NSC(201;0.136)	585					Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.1753G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.896043	0.72639	.	.	ENSG00000163637	ENST00000295902	T	0.68624	-0.34	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.64832	0.2634	L	0.58810	1.83	0.80722	D	1	P	0.41393	0.748	B	0.35182	0.197	T	0.70992	-0.4721	10	0.87932	D	0	-33.561	19.6573	0.95847	0.0:1.0:0.0:0.0	.	585	Q7Z3G6	PRIC2_HUMAN	K	585	ENSP00000295902:E585K	ENSP00000295902:E585K	E	-	1	0	PRICKLE2	64060549	1.000000	0.71417	0.959000	0.39883	0.989000	0.77384	7.613000	0.82986	2.655000	0.90218	0.591000	0.81541	GAG		0.562	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		4	160	0	0	0	1	0	4	160				
GTF3C1	2975	broad.mit.edu	37	16	27523078	27523078	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr16:27523078T>C	ENST00000356183.4	-	7	1133	c.1118A>G	c.(1117-1119)tAc>tGc	p.Y373C	GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y373C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	373					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTGAGGTCGTAGGTCTGTGT	0.507																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(1117-1119)tAc>tGc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							182.0	138.0	153.0					16																	27523078		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27523078T>C	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1118A>G	16.37:g.27523078T>C	ENSP00000348510:p.Tyr373Cys					GTF3C1_ENST00000561623.1_Missense_Mutation_p.Y373C	p.Y373C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			7	1133	-			373					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.1118A>G	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.393673	0.62066	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.54071	0.59	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.63414	0.2509	L	0.34521	1.04	0.46725	D	0.999171	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66164	-0.5992	10	0.62326	D	0.03	-5.8257	15.5262	0.75910	0.0:0.0:0.0:1.0	.	373;373	Q12789;Q12789-3	TF3C1_HUMAN;.	C	373;371	ENSP00000348510:Y373C	ENSP00000348510:Y373C	Y	-	2	0	GTF3C1	27430579	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	4.313000	0.59160	2.146000	0.66826	0.528000	0.53228	TAC		0.507	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		26	64	0	0	0	1	0	26	64				
PKD1L1	168507	broad.mit.edu	37	7	47898432	47898432	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr7:47898432C>A	ENST00000289672.2	-	27	4251	c.4201G>T	c.(4201-4203)Gct>Tct	p.A1401S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1401	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGGCCTTGAGCAAGGAGTGCC	0.488																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(4201-4203)Gct>Tct		polycystic kidney disease 1 like 1							72.0	69.0	70.0					7																	47898432		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47898432C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4201G>T	7.37:g.47898432C>A	ENSP00000289672:p.Ala1401Ser						p.A1401S	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			27	4251	-			1401			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4201G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	8.334	0.827116	0.16749	.	.	ENSG00000158683	ENST00000289672	T	0.19532	2.14	4.52	1.13	0.20643	Egg jelly receptor, REJ-like (1);	1.847090	0.02601	N	0.101032	T	0.21468	0.0517	L	0.57536	1.79	0.09310	N	1	P	0.35383	0.498	B	0.33454	0.164	T	0.20042	-1.0287	10	0.22706	T	0.39	-3.248	6.0724	0.19897	0.0:0.5914:0.0:0.4086	.	1401	Q8TDX9	PK1L1_HUMAN	S	1401	ENSP00000289672:A1401S	ENSP00000289672:A1401S	A	-	1	0	PKD1L1	47864957	0.000000	0.05858	0.011000	0.14972	0.199000	0.23934	-1.150000	0.03178	0.290000	0.22444	0.543000	0.68304	GCT		0.488	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		16	38	1	0	1.62849e-17	1	1.71652e-17	16	38				
ALPK1	80216	broad.mit.edu	37	4	113362081	113362081	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr4:113362081A>T	ENST00000458497.1	+	15	3826	c.3547A>T	c.(3547-3549)Acc>Tcc	p.T1183S	ALPK1_ENST00000504176.2_Missense_Mutation_p.T1105S|ALPK1_ENST00000177648.9_Missense_Mutation_p.T1183S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1183	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGTTGGGTAACCGGTAATGG	0.378																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3547-3549)Acc>Tcc		alpha-kinase 1							89.0	90.0	90.0					4																	113362081		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113362081A>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3547A>T	4.37:g.113362081A>T	ENSP00000398048:p.Thr1183Ser					ALPK1_ENST00000504176.2_Missense_Mutation_p.T1105S|ALPK1_ENST00000177648.9_Missense_Mutation_p.T1183S	p.T1183S	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	15	3826	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1183			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3547A>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.742648	0.89573	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.13538	2.58;2.58;2.58	5.84	5.84	0.93424	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	L	0.46741	1.465	0.46981	D	0.999278	D;D;D	0.62365	0.969;0.991;0.989	P;D;D	0.66351	0.755;0.943;0.922	T	0.00989	-1.1489	10	0.66056	D	0.02	-12.2627	16.2159	0.82217	1.0:0.0:0.0:0.0	.	1105;1105;1183	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	S	1183;1183;1105	ENSP00000398048:T1183S;ENSP00000177648:T1183S;ENSP00000426044:T1105S	ENSP00000177648:T1183S	T	+	1	0	ALPK1	113581530	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	8.219000	0.89770	2.243000	0.73865	0.533000	0.62120	ACC		0.378	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		27	65	0	0	0	1	0	27	65				
RNF19A	25897	broad.mit.edu	37	8	101281047	101281047	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr8:101281047A>G	ENST00000519449.1	-	6	1473	c.1157T>C	c.(1156-1158)aTg>aCg	p.M386T	RNF19A_ENST00000341084.2_Missense_Mutation_p.M386T|RNF19A_ENST00000523255.1_5'UTR	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	386					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GCCAATAATCATTGCAGGAAT	0.403																																						ENST00000519449.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30						c.(1156-1158)aTg>aCg		ring finger protein 19A, RBR E3 ubiquitin protein ligase							108.0	97.0	101.0					8																	101281047		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101281047A>G	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.1157T>C	8.37:g.101281047A>G	ENSP00000428968:p.Met386Thr					RNF19A_ENST00000341084.2_Missense_Mutation_p.M386T|RNF19A_ENST00000523255.1_5'UTR	p.M386T	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		6	1473	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		386					A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.1157T>C	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.161748	0.78226	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.84516	-1.86;-1.86	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.90092	0.6905	L	0.60845	1.875	0.80722	D	1	D	0.60160	0.987	D	0.66196	0.942	D	0.90751	0.4657	10	0.59425	D	0.04	.	15.0768	0.72082	1.0:0.0:0.0:0.0	.	386	Q9NV58	RN19A_HUMAN	T	386	ENSP00000428968:M386T;ENSP00000342667:M386T	ENSP00000342667:M386T	M	-	2	0	RNF19A	101350223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.048000	0.60808	0.482000	0.46254	ATG		0.403	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		42	79	0	0	0	1	0	42	79				
ATG2B	55102	broad.mit.edu	37	14	96798922	96798922	+	Silent	SNP	C	C	T	rs201390239	byFrequency	TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr14:96798922C>T	ENST00000359933.4	-	9	2171	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	426					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTGGGGGGTCCCCAAGGGGTG	0.398													C|||	3	0.000599042	0.0	0.0	5008	,	,		16551	0.0		0.0	False		,,,				2504	0.0031					ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(1276-1278)ggG>ggA		autophagy related 2B							108.0	107.0	107.0					14																	96798922		1832	4075	5907	SO:0001819	synonymous_variant	55102							g.chr14:96798922C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1278G>A	14.37:g.96798922C>T							p.G426G	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	9	2171	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	426					Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	ENST00000359933.4	37	c.1278G>A	CCDS9944.2																																																																																				0.398	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		29	62	0	0	0	1	0	29	62				
NXT2	55916	broad.mit.edu	37	X	108784843	108784843	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chrX:108784843T>C	ENST00000372106.1	+	3	373	c.242T>C	c.(241-243)gTt>gCt	p.V81A	NXT2_ENST00000372107.1_Missense_Mutation_p.V53A|NXT2_ENST00000372103.1_Missense_Mutation_p.V53A|NXT2_ENST00000218004.1_Missense_Mutation_p.V136A	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	81	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						TGCCAACCAGTTCATGGTAAG	0.393																																						ENST00000218004.1																			0				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						c.(406-408)gTt>gCt		nuclear transport factor 2-like export factor 2							117.0	102.0	107.0					X																	108784843		2203	4300	6503	SO:0001583	missense	55916				mRNA transport|protein transport	cytoplasm|nucleus		g.chrX:108784843T>C	AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.242T>C	X.37:g.108784843T>C	ENSP00000361178:p.Val81Ala					NXT2_ENST00000372103.1_Missense_Mutation_p.V53A|NXT2_ENST00000372106.1_Missense_Mutation_p.V81A|NXT2_ENST00000372107.1_Missense_Mutation_p.V53A	p.V136A	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN			4	509	+			81			NTF2.		D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	ENST00000372106.1	37	c.407T>C	CCDS56605.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559403	0.86335	.	.	ENSG00000101888	ENST00000218004;ENST00000372107;ENST00000372106;ENST00000372103	.	.	.	5.33	5.33	0.75918	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.80793	0.4691	M	0.84846	2.72	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.81914	0.984;0.995	D	0.83885	0.0281	9	0.62326	D	0.03	.	14.8499	0.70289	0.0:0.0:0.0:1.0	.	81;136	Q9NPJ8;Q9NPJ8-3	NXT2_HUMAN;.	A	136;53;81;53	.	ENSP00000218004:V136A	V	+	2	0	NXT2	108671499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.044000	0.60594	0.486000	0.48141	GTT		0.393	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057886.1	NM_018698		34	13	0	0	0	1	0	34	13				
ZNF672	79894	broad.mit.edu	37	1	249142441	249142441	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr1:249142441G>A	ENST00000306562.3	+	4	1714	c.968G>A	c.(967-969)cGc>cAc	p.R323H		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TTCAGCGACCGCTCGGACCTC	0.682																																						ENST00000306562.3																			0				endometrium(2)|kidney(2)|large_intestine(1)	5						c.(967-969)cGc>cAc		zinc finger protein 672							16.0	17.0	17.0					1																	249142441		2199	4297	6496	SO:0001583	missense	79894				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249142441G>A	AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.968G>A	1.37:g.249142441G>A	ENSP00000421915:p.Arg323His						p.R323H	NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		4	1714	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	323					Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	ENST00000306562.3	37	c.968G>A	CCDS1638.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896756	0.52121	.	.	ENSG00000171161	ENST00000306562	T	0.36157	1.27	3.3	1.4	0.22301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36815	U	0.002395	T	0.20210	0.0486	L	0.32530	0.975	0.21445	N	0.999689	B	0.29612	0.251	B	0.13407	0.009	T	0.12319	-1.0552	9	.	.	.	.	7.068	0.25164	0.2367:0.0:0.7633:0.0	.	323	Q499Z4	ZN672_HUMAN	H	323	ENSP00000421915:R323H	.	R	+	2	0	ZNF672	247109064	0.000000	0.05858	0.915000	0.36163	0.841000	0.47740	-0.357000	0.07651	0.406000	0.25560	0.561000	0.74099	CGC		0.682	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097125.2	NM_024836		2	0	0	0	0	1	0	2	0				
KIF3C	3797	broad.mit.edu	37	2	26204068	26204068	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:26204068C>T	ENST00000264712.3	-	1	1298	c.719G>A	c.(718-720)gGc>gAc	p.G240D	KIF3C_ENST00000405914.1_Missense_Mutation_p.G240D	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	240	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGAGCTTGCCCACTCGGAT	0.627																																						ENST00000264712.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(718-720)gGc>gAc		kinesin family member 3C							52.0	52.0	52.0					2																	26204068		2203	4300	6503	SO:0001583	missense	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26204068C>T		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.719G>A	2.37:g.26204068C>T	ENSP00000264712:p.Gly240Asp					KIF3C_ENST00000405914.1_Missense_Mutation_p.G240D	p.G240D	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN			1	1298	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		240			Kinesin-motor.		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	ENST00000264712.3	37	c.719G>A	CCDS1719.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627242	0.66901	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.78595	-1.19;-1.19	5.67	4.8	0.61643	Kinesin, motor domain (4);Kinesin, motor region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91472	0.7308	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93415	0.6772	10	0.87932	D	0	.	12.3614	0.55205	0.0:0.9182:0.0:0.0818	.	240;240	B7ZM25;O14782	.;KIF3C_HUMAN	D	240;46;240	ENSP00000264712:G240D;ENSP00000385030:G240D	ENSP00000264712:G240D	G	-	2	0	KIF3C	26057572	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.047000	0.71038	1.396000	0.46663	0.655000	0.94253	GGC		0.627	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			3	46	0	0	0	1	0	3	46				
BZW1	9689	broad.mit.edu	37	2	201681960	201681960	+	Silent	SNP	A	A	G			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:201681960A>G	ENST00000409600.1	+	6	989	c.534A>G	c.(532-534)aaA>aaG	p.K178K	BZW1_ENST00000452790.2_Silent_p.K210K|BZW1_ENST00000409226.1_Silent_p.K182K	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						ATTTGGTTAAAGAAGGTAATC	0.398																																						ENST00000409600.1																			0				breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(532-534)aaA>aaG		basic leucine zipper and W2 domains 1							99.0	93.0	95.0					2																	201681960		1860	4099	5959	SO:0001819	synonymous_variant	9689				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding	g.chr2:201681960A>G	D13630	CCDS56154.1, CCDS56155.1, CCDS56156.1	2q33	2010-04-09			ENSG00000082153	ENSG00000082153			18380	protein-coding gene	gene with protein product						10964520, 11524015	Standard	NM_001207067		Approved	BZAP45, KIAA0005	uc021vus.1	Q7L1Q6	OTTHUMG00000154560	ENST00000409600.1:c.534A>G	2.37:g.201681960A>G						BZW1_ENST00000409226.1_Silent_p.K182K|BZW1_ENST00000452790.2_Silent_p.K210K	p.K178K	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN			6	989	+			178					B4DLZ8|B4DWF7|Q14281|Q15394|Q9BUY0	Silent	SNP	ENST00000409600.1	37	c.534A>G	CCDS56156.1																																																																																				0.398	BZW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335975.1	NM_014670		22	61	0	0	0	1	0	22	61				
SLC26A3	1811	broad.mit.edu	37	7	107414431	107414431	+	Silent	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr7:107414431G>A	ENST00000340010.5	-	17	2125	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	647	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAATGAGGCTGTGGAGGCTGA	0.433																																						ENST00000340010.5																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1939-1941)caC>caT		solute carrier family 26 (anion exchanger), member 3							201.0	178.0	186.0					7																	107414431		2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107414431G>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1941C>T	7.37:g.107414431G>A						SLC26A3_ENST00000422236.2_Intron	p.H647H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN			17	2125	-			647			STAS.			Silent	SNP	ENST00000340010.5	37	c.1941C>T	CCDS5748.1																																																																																				0.433	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		37	44	0	0	0	1	0	37	44				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	47	0	0	0	1	0	3	47				
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	RNA	SNP	C	C	T	rs199688784	byFrequency	TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr9:141070687C>T	ENST00000503395.1	+	0	1462									tubulin, beta pseudogene 5																		ACAACTGGGCCAAGGGACGCT	0.577																																						ENST00000503395.1																			0																																																			643224							g.chr9:141070687C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070687C>T														0	1462	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.577	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		3	10	0	0	0	1	0	3	10				
DSE	29940	broad.mit.edu	37	6	116720670	116720670	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr6:116720670T>C	ENST00000331677.3	+	3	701	c.257T>C	c.(256-258)cTc>cCc	p.L86P	DSE_ENST00000359564.2_Missense_Mutation_p.L86P|DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.L105P|DSE_ENST00000452085.3_Missense_Mutation_p.L86P			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	86					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGGAATACCTCCCTCCCTGG	0.582																																						ENST00000331677.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(256-258)cTc>cCc		dermatan sulfate epimerase							41.0	40.0	41.0					6																	116720670		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116720670T>C	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.257T>C	6.37:g.116720670T>C	ENSP00000332151:p.Leu86Pro					DSE_ENST00000540275.1_3'UTR|DSE_ENST00000359564.2_Missense_Mutation_p.L86P|DSE_ENST00000537543.1_Missense_Mutation_p.L105P|DSE_ENST00000452085.3_Missense_Mutation_p.L86P	p.L86P			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	3	701	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	86					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.257T>C	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424455	0.83667	.	.	ENSG00000111817	ENST00000430252;ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T;T	0.44482	1.79;0.92;0.92;0.92;0.92	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.58918	-0.7551	10	0.56958	D	0.05	-19.0569	15.6958	0.77494	0.0:0.0:0.0:1.0	.	105;86	B7Z765;Q9UL01	.;DSE_HUMAN	P	86;86;105;86;86	ENSP00000397597:L86P;ENSP00000404049:L86P;ENSP00000441152:L105P;ENSP00000332151:L86P;ENSP00000352567:L86P	ENSP00000332151:L86P	L	+	2	0	DSE	116827363	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.820000	0.86633	2.288000	0.76882	0.528000	0.53228	CTC		0.582	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352		3	30	0	0	0	1	0	3	30				
MATN4	8785	broad.mit.edu	37	20	43933245	43933245	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr20:43933245C>T	ENST00000372754.1	-	2	274	c.266G>A	c.(265-267)cGc>cAc	p.R89H	MATN4_ENST00000372756.1_Missense_Mutation_p.R89H|RBPJL_ENST00000372741.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000537548.1_Missense_Mutation_p.R89H|MATN4_ENST00000360607.6_Missense_Mutation_p.R89H|MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000342716.4_Missense_Mutation_p.R89H|MATN4_ENST00000353917.5_Missense_Mutation_p.R89H			O95460	MATN4_HUMAN	matrilin 4	89	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGAGAACGCGCGGAGAGGGAA	0.642																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(265-267)cGc>cAc		matrilin 4							34.0	31.0	32.0					20																	43933245		2202	4300	6502	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933245C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.266G>A	20.37:g.43933245C>T	ENSP00000361840:p.Arg89His					MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.R89H|MATN4_ENST00000353917.5_Missense_Mutation_p.R89H|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.R89H|MATN4_ENST00000342716.4_Missense_Mutation_p.R89H|MATN4_ENST00000360607.5_Missense_Mutation_p.R89H	p.R89H			O95460	MATN4_HUMAN			4	510	-		Myeloproliferative disorder(115;0.0122)	89			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.266G>A		.	.	.	.	.	.	.	.	.	.	C	12.15	1.851115	0.32699	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	4.5	4.5	0.54988	.	0.532223	0.15638	N	0.252035	T	0.80308	0.4599	L	0.43923	1.385	0.20563	N	0.999881	P;P;P	0.48834	0.478;0.916;0.864	B;P;B	0.49597	0.111;0.616;0.397	T	0.72178	-0.4369	10	0.56958	D	0.05	.	6.1762	0.20444	0.0:0.7935:0.0:0.2065	.	89;89;89	A6NNA4;O95460-4;O95460-2	.;.;.	H	89	ENSP00000361840:R89H;ENSP00000361842:R89H;ENSP00000243983:R89H;ENSP00000353819:R89H;ENSP00000343164:R89H;ENSP00000440328:R89H	ENSP00000255132:R89H	R	-	2	0	MATN4	43366659	0.366000	0.25014	0.024000	0.17045	0.034000	0.12701	4.015000	0.57152	2.335000	0.79485	0.462000	0.41574	CGC		0.642	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			5	9	0	0	0	1	0	5	9				
SLC25A39	51629	broad.mit.edu	37	17	42399848	42399848	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:42399848C>A	ENST00000377095.5	-	5	382	c.263G>T	c.(262-264)tGc>tTc	p.C88F	SLC25A39_ENST00000225308.8_Missense_Mutation_p.C80F|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000537904.2_Missense_Mutation_p.C65F|SLC25A39_ENST00000590194.1_Missense_Mutation_p.C80F	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	88					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACCATTTGGGCACAGGTACAG	0.587																																						ENST00000225308.8																			0				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(238-240)tGc>tTc		solute carrier family 25, member 39							107.0	86.0	93.0					17																	42399848		2203	4300	6503	SO:0001583	missense	51629				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr17:42399848C>A	BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.263G>T	17.37:g.42399848C>A	ENSP00000366299:p.Cys88Phe					SLC25A39_ENST00000590194.1_Missense_Mutation_p.C80F|SLC25A39_ENST00000537904.2_Missense_Mutation_p.C65F|SLC25A39_ENST00000377095.5_Missense_Mutation_p.C88F|SLC25A39_ENST00000586016.1_Intron	p.C80F	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	5	413	-		Prostate(33;0.0233)	88					A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	ENST00000377095.5	37	c.239G>T	CCDS45700.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717153	0.89205	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.80994	-1.44;-1.3;-1.41	5.38	5.38	0.77491	Mitochondrial carrier domain (1);	0.000000	0.85682	D	0.000000	D	0.87533	0.6201	L	0.50333	1.59	0.80722	D	1	D;D;P;D;D	0.89917	1.0;1.0;0.933;0.999;0.997	D;D;D;D;D	0.81914	0.995;0.989;0.921;0.993;0.973	D	0.87482	0.2421	10	0.59425	D	0.04	-26.9335	18.9412	0.92605	0.0:1.0:0.0:0.0	.	73;80;65;88;80	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	F	80;88;65	ENSP00000225308:C80F;ENSP00000366299:C88F;ENSP00000444540:C65F	ENSP00000225308:C80F	C	-	2	0	SLC25A39	39755374	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.431000	0.59915	2.793000	0.96121	0.655000	0.94253	TGC		0.587	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457745.1	NM_016016		8	37	1	0	0.00307968	1	0.00316072	8	37				
OR7C2	26658	broad.mit.edu	37	19	15052535	15052535	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr19:15052535C>T	ENST00000248072.3	+	1	235	c.235C>T	c.(235-237)Cca>Tca	p.P79S		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CACGACTGTCCCAAAGATGCT	0.458																																						ENST00000248072.3																			0				large_intestine(3)|lung(8)|ovary(2)|skin(2)	15						c.(235-237)Cca>Tca		olfactory receptor, family 7, subfamily C, member 2							73.0	64.0	67.0					19																	15052535		2203	4300	6503	SO:0001583	missense	26658				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15052535C>T	U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.235C>T	19.37:g.15052535C>T	ENSP00000248072:p.Pro79Ser						p.P79S	NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN			1	235	+	Ovarian(108;0.203)		79					O43881|Q6IFP9	Missense_Mutation	SNP	ENST00000248072.3	37	c.235C>T	CCDS12320.1	.	.	.	.	.	.	.	.	.	.	c	12.86	2.064166	0.36373	.	.	ENSG00000127529	ENST00000248072	T	0.01854	4.6	4.19	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	U	0.000711	T	0.20981	0.0505	H	0.97758	4.07	0.33901	D	0.638471	D	0.89917	1.0	D	0.71414	0.973	T	0.55010	-0.8207	10	0.87932	D	0	.	14.3821	0.66919	0.0:1.0:0.0:0.0	.	79	O60412	OR7C2_HUMAN	S	79	ENSP00000248072:P79S	ENSP00000248072:P79S	P	+	1	0	OR7C2	14913535	1.000000	0.71417	0.793000	0.32043	0.144000	0.21451	5.381000	0.66208	2.336000	0.79503	0.514000	0.50259	CCA		0.458	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466281.1			6	69	0	0	0	1	0	6	69				
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T	rs200673320		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr15:20743796C>T	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493																																						ENST00000427390.2																			1	Substitution - coding silent(1)	p.T136T(1)	endometrium(1)	NS(3)|endometrium(4)|kidney(1)|skin(3)	11						c.(406-408)acG>acA		golgin A6 family-like 6							31.0	8.0	19.0					15																	20743796		336	402	738	SO:0001819	synonymous_variant	727832							g.chr15:20743796C>T	AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.408G>A	15.37:g.20743796C>T							p.T136T	NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN			4	498	-			136					D3YTC0	Silent	SNP	ENST00000427390.2	37	c.408G>A	CCDS45184.1																																																																																				0.493	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004		5	44	0	0	0	1	0	5	44				
C5orf28	64417	broad.mit.edu	37	5	43446327	43446327	+	Silent	SNP	G	G	C			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr5:43446327G>C	ENST00000500337.2	-	5	976	c.645C>G	c.(643-645)gtC>gtG	p.V215V	C5orf28_ENST00000537319.1_Silent_p.V84V|C5orf28_ENST00000397080.3_Silent_p.V215V|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Silent_p.V215V|C5orf28_ENST00000510130.1_Silent_p.V113V			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	215						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					GTGTACCTCAGACATCAATAC	0.333																																						ENST00000500337.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(643-645)gtC>gtG		chromosome 5 open reading frame 28							93.0	90.0	91.0					5																	43446327		2202	4300	6502	SO:0001819	synonymous_variant	64417					integral to membrane		g.chr5:43446327G>C	AK025310	CCDS3945.1	5p12	2011-01-25			ENSG00000151881	ENSG00000151881			26139	protein-coding gene	gene with protein product						12477932	Standard	NM_022483		Approved	FLJ21657	uc003jny.3	Q0VDI3	OTTHUMG00000131150	ENST00000500337.2:c.645C>G	5.37:g.43446327G>C						C5orf28_ENST00000397080.3_Silent_p.V215V|C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000512085.1_Silent_p.V215V|C5orf28_ENST00000537319.1_Silent_p.V84V|C5orf28_ENST00000510130.1_Silent_p.V113V	p.V215V			Q0VDI3	CE028_HUMAN			5	976	-	Lung NSC(6;2.07e-05)		215					B2RDA6|Q9H6Z2	Silent	SNP	ENST00000500337.2	37	c.645C>G	CCDS3945.1																																																																																				0.333	C5orf28-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368003.1	NM_022483		30	58	0	0	0	1	0	30	58				
PLXNB2	23654	broad.mit.edu	37	22	50718132	50718132	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr22:50718132G>A	ENST00000449103.1	-	27	4456	c.4316C>T	c.(4315-4317)gCg>gTg	p.A1439V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1439V			O15031	PLXB2_HUMAN	plexin B2	1439					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCTGTACCGCATCCACCGG	0.617																																						ENST00000449103.1																			0				breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4315-4317)gCg>gTg		plexin B2							151.0	171.0	164.0					22																	50718132		1996	4140	6136	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50718132G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4316C>T	22.37:g.50718132G>A	ENSP00000409171:p.Ala1439Val					PLXNB2_ENST00000359337.4_Missense_Mutation_p.A1439V	p.A1439V			O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	27	4456	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1439					A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4316C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331777	0.60853	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.15139	2.45;2.45	4.17	4.17	0.49024	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000002	T	0.35098	0.0920	L	0.55103	1.725	0.80722	D	1	D	0.76494	0.999	D	0.65987	0.94	T	0.04509	-1.0946	10	0.36615	T	0.2	.	17.0055	0.86392	0.0:0.0:1.0:0.0	.	1439	O15031	PLXB2_HUMAN	V	1439;1439;71	ENSP00000409171:A1439V;ENSP00000352288:A1439V	ENSP00000352288:A1439V	A	-	2	0	PLXNB2	49060259	0.999000	0.42202	0.952000	0.39060	0.168000	0.22595	3.644000	0.54381	2.306000	0.77630	0.462000	0.41574	GCG		0.617	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		4	110	0	0	0	1	0	4	110				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	24	0	0	0	1	0	3	24				
PXDN	7837	broad.mit.edu	37	2	1652633	1652633	+	Silent	SNP	G	G	A			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr2:1652633G>A	ENST00000252804.4	-	17	2969	c.2919C>T	c.(2917-2919)gcC>gcT	p.A973A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	973					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTGGTCCCCGGCCAGGAAGC	0.692																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2917-2919)gcC>gcT		peroxidasin homolog (Drosophila)							16.0	17.0	16.0					2																	1652633		2097	4189	6286	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652633G>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2919C>T	2.37:g.1652633G>A							p.A973A	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2969	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	973					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2919C>T	CCDS46221.1																																																																																				0.692	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		2	0	0	0	0	1	0	2	0				
LPA	4018	broad.mit.edu	37	6	161007643	161007643	+	Missense_Mutation	SNP	A	A	T			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr6:161007643A>T	ENST00000316300.5	-	25	4011	c.3967T>A	c.(3967-3969)Tgc>Agc	p.C1323S	LPA_ENST00000447678.1_Missense_Mutation_p.C1323S			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3831	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGATTCCTGCAGTAGTTCCTG	0.483																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3967-3969)Tgc>Agc		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						93.0	93.0	93.0					6																	161007643		2189	4297	6486	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161007643A>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3967T>A	6.37:g.161007643A>T	ENSP00000321334:p.Cys1323Ser					LPA_ENST00000316300.5_Missense_Mutation_p.C1323S	p.C1323S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	26	4087	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3831			Kringle 12.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3967T>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	a	14.12	2.441638	0.43326	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.98164	-4.76;-4.76	2.55	2.55	0.30701	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.99293	0.9753	H	0.99838	4.83	0.45791	D	0.998674	P	0.46142	0.873	P	0.61874	0.895	D	0.98883	1.0770	9	0.72032	D	0.01	.	8.5612	0.33511	1.0:0.0:0.0:0.0	.	3831	P08519	APOA_HUMAN	S	1323	ENSP00000321334:C1323S;ENSP00000395608:C1323S	ENSP00000321334:C1323S	C	-	1	0	LPA	160927633	1.000000	0.71417	0.993000	0.49108	0.476000	0.33039	6.608000	0.74168	1.158000	0.42547	0.352000	0.21897	TGC		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		30	24	0	0	0	1	0	30	24				
LOC100287934	100287934	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr1:745371delA	ENST00000435300.1	-	0	804				RP11-206L10.8_ENST00000447500.1_RNA																							TTTATTTCATAAGATAGCATT	0.299																																						ENST00000447500.1																			0																																																			100287934							g.chr1:745371delA																													1.37:g.745371delA														0	95	-									RNA	DEL	ENST00000435300.1	37																																																																																						0.299	RP11-206L10.10-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000007014.1			2	4						2	4	---	---	---	---
MYSM1	114803	broad.mit.edu	37	1	59147514	59147514	+	Missense_Mutation	SNP	C	C	T	rs202116499		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr1:59147514C>T	ENST00000472487.1	-	8	1241	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	401	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TTTAGCTTGGCGCCCCTCAAA	0.323																																						ENST00000472487.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1201-1203)cGc>cAc		Myb-like, SWIRM and MPN domains 1		C	HIS/ARG	0,3606		0,0,1803	55.0	50.0	52.0		1202	4.0	0.9	1		52	2,8144		0,2,4071	yes	missense	MYSM1	NM_001085487.2	29	0,2,5874	TT,TC,CC		0.0246,0.0,0.017	probably-damaging	401/829	59147514	2,11750	1803	4073	5876	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59147514C>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.1202G>A	1.37:g.59147514C>T	ENSP00000418734:p.Arg401His					MYSM1_ENST00000493821.1_5'UTR	p.R401H	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN			8	1241	-	all_cancers(7;9.36e-06)		401			SWIRM.		A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.1202G>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377019	0.82682	0.0	2.46E-4	ENSG00000162601	ENST00000472487	T	0.27402	1.67	4.96	4.02	0.46733	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	M	0.86178	2.8	0.50039	D	0.99984	D	0.89917	1.0	D	0.91635	0.999	T	0.62300	-0.6883	10	0.54805	T	0.06	-5.2691	12.9823	0.58570	0.0:0.9196:0.0:0.0804	.	401	Q5VVJ2	MYSM1_HUMAN	H	401	ENSP00000418734:R401H	ENSP00000418734:R401H	R	-	2	0	MYSM1	58920102	1.000000	0.71417	0.869000	0.34112	0.978000	0.69477	5.616000	0.67709	2.569000	0.86673	0.585000	0.79938	CGC		0.323	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		3	49	0	0	0	1	0	3	49				
DUSP27	92235	broad.mit.edu	37	1	167095398	167095400	+	In_Frame_Del	DEL	GAG	GAG	-	rs372437301		TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr1:167095398_167095400delGAG	ENST00000361200.2	+	6	1196_1198	c.1030_1032delGAG	c.(1030-1032)gagdel	p.E348del	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_In_Frame_Del_p.E348del|DUSP27_ENST00000443333.1_In_Frame_Del_p.E348del			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	348					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCTCATAGACGAGGAGGAGGAGG	0.655																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1030-1032)del		dual specificity phosphatase 27 (putative)				121,4133		6,109,2012						-6.5	0.0			29	285,7951		13,259,3846	no	coding	DUSP27	NM_001080426.1		19,368,5858	A1A1,A1R,RR		3.4604,2.8444,3.2506				406,12084				SO:0001651	inframe_deletion	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095398_167095400delGAG	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1030_1032delGAG	1.37:g.167095407_167095409delGAG	ENSP00000354483:p.Glu348del					DUSP27_ENST00000271385.5_In_Frame_Del_p.E348del|DUSP27_ENST00000443333.1_In_Frame_Del_p.E348del|DUSP27_ENST00000485151.1_3'UTR	p.E348del			Q5VZP5	DUS27_HUMAN			6	1196_1198	+			348					A0AUM4|Q9C074	In_Frame_Del	DEL	ENST00000361200.2	37	c.1030_1032delGAG	CCDS30932.1																																																																																				0.655	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		3	6						3	6	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr7:102883498delA	ENST00000312132.4	-	0	2616							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTACCACTGTAAAAAAAAAAA	0.284																																						ENST00000312132.4																			0																																																			349152							g.chr7:102883498delA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102883498delA														0	2616	-								Q8N9V4|Q8ND62	RNA	DEL	ENST00000312132.4	37																																																																																						0.284	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	9						4	9	---	---	---	---
KRTAP4-11	653240	broad.mit.edu	37	17	39273997	39273998	+	Frame_Shift_Del	DEL	CA	CA	-	rs150942763|rs370844718	byFrequency	TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:39273997_39273998delCA	ENST00000391413.2	-	1	608_609	c.570_571delTG	c.(568-573)tgtgccfs	p.A191fs		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	191						keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAAGAGGAGGCACAGCACAAGG	0.599																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(568-573)tgccfs		keratin associated protein 4-11																																				SO:0001589	frameshift_variant	653240					keratin filament		g.chr17:39273997_39273998delCA	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.570_571delTG	17.37:g.39273999_39274000delCA	ENSP00000375232:p.Ala191fs						p.CA190fs	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	608_609	-		Breast(137;0.000496)	190					A0AUY2	Frame_Shift_Del	DEL	ENST00000391413.2	37	c.570_571delTG	CCDS45675.1																																																																																				0.599	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			2	4						2	4	---	---	---	---
FASN	2194	broad.mit.edu	37	17	80050662	80050662	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W2-A7HC-01A-11D-A35I-08	TCGA-W2-A7HC-10C-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4ba3a7-7593-4119-a1ce-d9985a5eba12	c5a62d15-b127-4c87-b7f3-bdff4feefdf3	g.chr17:80050662delG	ENST00000306749.2	-	7	1023	c.805delC	c.(805-807)cagfs	p.Q269fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	269	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGCTGCTCCTGGATATCCCCT	0.677																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(805-807)agfs		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						27.0	28.0	28.0					17																	80050662		2181	4289	6470	SO:0001589	frameshift_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80050662delG	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.805delC	17.37:g.80050662delG	ENSP00000304592:p.Gln269fs						p.Q269fs	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		7	1023	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		269			Beta-ketoacyl synthase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000306749.2	37	c.805delC	CCDS11801.1																																																																																				0.677	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		2	4						2	4	---	---	---	---
