#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
KRAS	3845	broad.mit.edu	37	12	25398269	25398269	+	Missense_Mutation	SNP	C	C	G			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:25398269C>G	ENST00000256078.4	-	2	113	c.50G>C	c.(49-51)aGt>aCt	p.S17T	KRAS_ENST00000556131.1_Missense_Mutation_p.S17T|KRAS_ENST00000311936.3_Missense_Mutation_p.S17T|KRAS_ENST00000557334.1_Missense_Mutation_p.S17T	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	17					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|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)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.S17N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CGTCAAGGCACTCTTGCCTAC	0.358		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	1	Substitution - Missense(1)	p.S17N(1)	salivary_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(49-51)aGt>aCt		Kirsten rat sarcoma viral oncogene homolog							91.0	80.0	84.0					12																	25398269		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398269C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.50G>C	12.37:g.25398269C>G	ENSP00000256078:p.Ser17Thr	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.S17T|KRAS_ENST00000556131.1_Missense_Mutation_p.S17T|KRAS_ENST00000256078.4_Missense_Mutation_p.S17T	p.S17T	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	241	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		17					A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.50G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102426	0.94245	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;0.15;0.15;0.15	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	N	0.16307	0.4	0.80722	D	1	P;D	0.63880	0.914;0.993	P;P	0.61132	0.612;0.884	T	0.81752	-0.0789	10	0.62326	D	0.03	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	17;17	P01116-2;P01116	.;RASK_HUMAN	T	17	ENSP00000308495:S17T;ENSP00000452512:S17T;ENSP00000256078:S17T;ENSP00000451856:S17T	ENSP00000256078:S17T	S	-	2	0	KRAS	25289536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	AGT		0.358	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		11	24	0	0	0	1	0	11	24				
CALHM1	255022	broad.mit.edu	37	10	105215289	105215289	+	Silent	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:105215289G>A	ENST00000329905.5	-	2	907	c.771C>T	c.(769-771)gaC>gaT	p.D257D	CALHM2_ENST00000393235.1_5'Flank|RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	257					ATP transport (GO:0015867)|cation transport (GO:0006812)|protein homooligomerization (GO:0051260)|regulation of ion transmembrane transport (GO:0034765)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|identical protein binding (GO:0042802)|voltage-gated ion channel activity (GO:0005244)			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CCAGCTCCAGGTCATGGTTCA	0.637																																						ENST00000329905.5																			0				large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						c.(769-771)gaC>gaT		calcium homeostasis modulator 1							84.0	60.0	68.0					10																	105215289		2203	4300	6503	SO:0001819	synonymous_variant	255022					endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding	g.chr10:105215289G>A	BC036208	CCDS7550.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000185933	ENSG00000185933			23494	protein-coding gene	gene with protein product		612234	"""family with sequence similarity 26, member C"""	FAM26C		18585350	Standard	NM_001001412		Approved		uc001kxe.2	Q8IU99	OTTHUMG00000018991	ENST00000329905.5:c.771C>T	10.37:g.105215289G>A						RP11-225H22.4_ENST00000411906.1_RNA	p.D257D	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN			2	907	-			257					Q5W091	Silent	SNP	ENST00000329905.5	37	c.771C>T	CCDS7550.1																																																																																				0.637	CALHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050165.1	NM_001001412		5	14	0	0	0	1	0	5	14				
ATF6	22926	broad.mit.edu	37	1	161762027	161762027	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:161762027G>A	ENST00000367942.3	+	6	665	c.598G>A	c.(598-600)Gca>Aca	p.A200T		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	200				VPAK -> IPPQ (in Ref. 4; AAH14969/ AAH71997). {ECO:0000305}.	activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CAGTGTTCCAGCAAAAACCAT	0.423																																						ENST00000367942.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(598-600)Gca>Aca		activating transcription factor 6							195.0	198.0	197.0					1																	161762027		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161762027G>A	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.598G>A	1.37:g.161762027G>A	ENSP00000356919:p.Ala200Thr						p.A200T	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		6	665	+	all_hematologic(112;0.156)		200	VPAK -> IPPQ (in Ref. 4; AAH14969/ AAH71997).				O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.598G>A	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	G	9.611	1.131198	0.21041	.	.	ENSG00000118217	ENST00000367942	T	0.16196	2.36	5.51	3.3	0.37823	.	0.233302	0.42964	N	0.000640	T	0.04452	0.0122	L	0.46157	1.445	0.30652	N	0.755352	B;B	0.24651	0.028;0.108	B;B	0.19391	0.019;0.025	T	0.30794	-0.9966	9	0.16420	T	0.52	-7.3334	6.1981	0.20561	0.1883:0.1592:0.6525:0.0	.	200;201	P18850;Q59H30	ATF6A_HUMAN;.	T	200	ENSP00000356919:A200T	ENSP00000356919:A200T	A	+	1	0	ATF6	160028651	1.000000	0.71417	0.816000	0.32577	0.404000	0.30871	1.455000	0.35190	1.323000	0.45263	-0.140000	0.14226	GCA		0.423	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		4	196	0	0	0	1	0	4	196				
VPS18	57617	broad.mit.edu	37	15	41191890	41191890	+	Missense_Mutation	SNP	G	G	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr15:41191890G>T	ENST00000220509.5	+	4	1213	c.874G>T	c.(874-876)Gtg>Ttg	p.V292L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	292					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGGGGATGGTGTGTTGTATGG	0.652																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(874-876)Gtg>Ttg		vacuolar protein sorting 18 homolog (S. cerevisiae)							70.0	69.0	69.0					15																	41191890		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41191890G>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.874G>T	15.37:g.41191890G>T	ENSP00000220509:p.Val292Leu					VPS18_ENST00000558474.1_Intron	p.V292L	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1213	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	292					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.874G>T	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215338	0.79352	.	.	ENSG00000104142	ENST00000220509	T	0.52983	0.64	4.81	4.81	0.61882	Pep3/Vps18/deep orange (1);	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	L	0.43152	1.355	0.80722	D	1	P	0.41597	0.756	B	0.42882	0.401	T	0.34900	-0.9810	10	0.30854	T	0.27	-34.0858	18.4344	0.90640	0.0:0.0:1.0:0.0	.	292	Q9P253	VPS18_HUMAN	L	292	ENSP00000220509:V292L	ENSP00000220509:V292L	V	+	1	0	VPS18	38979182	1.000000	0.71417	0.405000	0.26409	0.958000	0.62258	9.601000	0.98297	2.646000	0.89796	0.655000	0.94253	GTG		0.652	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			21	47	1	0	1.00905e-13	1	1.00905e-13	21	47				
OCRL	4952	broad.mit.edu	37	X	128703312	128703312	+	Missense_Mutation	SNP	A	A	G	rs137853847		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chrX:128703312A>G	ENST00000371113.4	+	15	1703	c.1538A>G	c.(1537-1539)tAt>tGt	p.Y513C	OCRL_ENST00000357121.5_Missense_Mutation_p.Y513C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	513	5-phosphatase.		Y -> C (in OCRL; dbSNP:rs137853847). {ECO:0000269|PubMed:9682219}.		cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAGCTTAATTATCGGAGTCAC	0.423																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48	GRCh37	CM983298	OCRL	M	rs137853847	c.(1537-1539)tAt>tGt		oculocerebrorenal syndrome of Lowe							175.0	161.0	166.0					X																	128703312		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128703312A>G	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1538A>G	X.37:g.128703312A>G	ENSP00000360154:p.Tyr513Cys					OCRL_ENST00000357121.5_Missense_Mutation_p.Y513C	p.Y513C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			15	1703	+			513		Y -> C (in OCRL; dbSNP:rs137853847).			A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1538A>G	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.342512	0.81911	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.95949	-3.86;-3.86	5.82	5.82	0.92795	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.118608	0.64402	D	0.000013	D	0.98785	0.9591	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99187	1.0869	10	0.87932	D	0	.	13.8113	0.63266	1.0:0.0:0.0:0.0	.	513;513	Q01968-2;Q01968	.;OCRL_HUMAN	C	513	ENSP00000360154:Y513C;ENSP00000349635:Y513C	ENSP00000349635:Y513C	Y	+	2	0	OCRL	128530993	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	8.949000	0.93012	1.942000	0.56320	0.407000	0.27541	TAT		0.423	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		46	27	0	0	0	1	0	46	27				
TMEM74	157753	broad.mit.edu	37	8	109796648	109796648	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:109796648T>C	ENST00000297459.3	-	2	858	c.680A>G	c.(679-681)cAc>cGc	p.H227R	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	227					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCGGTCCAGGTGAGCCCCCAG	0.612																																						ENST00000297459.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29						c.(679-681)cAc>cGc		transmembrane protein 74							57.0	55.0	56.0					8																	109796648		2203	4300	6503	SO:0001583	missense	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109796648T>C	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.680A>G	8.37:g.109796648T>C	ENSP00000297459:p.His227Arg					TMEM74_ENST00000518838.1_Intron	p.H227R	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	858	-			227						Missense_Mutation	SNP	ENST00000297459.3	37	c.680A>G	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.177359	0.78564	.	.	ENSG00000164841	ENST00000297459	T	0.16457	2.34	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.68317	2.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.74348	0.983	T	0.24297	-1.0164	10	0.72032	D	0.01	-17.7025	15.6293	0.76888	0.0:0.0:0.0:1.0	.	227	Q96NL1	TMM74_HUMAN	R	227	ENSP00000297459:H227R	ENSP00000297459:H227R	H	-	2	0	TMEM74	109865824	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.868000	0.87116	2.276000	0.75962	0.528000	0.53228	CAC		0.612	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		12	30	0	0	0	1	0	12	30				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	76	0	0	0	1	0	3	76				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:25398284C>G	ENST00000256078.4	-	2	98	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000311936.3_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|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)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gCt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>C	12.37:g.25398284C>G	ENSP00000256078:p.Gly12Ala	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A	p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996285	0.93167	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.74546	2.27	0.80722	D	1	P;P	0.52842	0.898;0.956	P;P	0.55303	0.658;0.773	D	0.87064	0.2155	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	A	12	ENSP00000308495:G12A;ENSP00000452512:G12A;ENSP00000256078:G12A;ENSP00000451856:G12A	ENSP00000256078:G12A	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		12	24	0	0	0	1	0	12	24				
KNDC1	85442	broad.mit.edu	37	10	135003172	135003172	+	Splice_Site	SNP	C	C	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:135003172C>T	ENST00000304613.3	+	8	1533	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	KNDC1_ENST00000368572.2_Splice_Site_p.N504N|KNDC1_ENST00000368571.2_Splice_Site_p.N439N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	504	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCCTGCCAACGGTGAGTGTG	0.622																																						ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.e8+1		kinase non-catalytic C-lobe domain (KIND) containing 1							99.0	88.0	91.0					10																	135003172		2202	4299	6501	SO:0001630	splice_region_variant	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135003172C>T	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1513+1C>T	10.37:g.135003172C>T						KNDC1_ENST00000368571.2_Splice_Site_p.N439_splice|KNDC1_ENST00000368572.2_Splice_Site_p.N504_splice	p.N504_splice			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	8	1533	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	504			KIND 2.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Splice_Site	SNP	ENST00000304613.3	37	c.1513_splice	CCDS7674.1																																																																																				0.622	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	Silent	5	17	0	0	0	1	0	5	17				
RSPH14	27156	broad.mit.edu	37	22	23406094	23406094	+	Silent	SNP	C	C	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr22:23406094C>T	ENST00000216036.4	-	5	835	c.639G>A	c.(637-639)gcG>gcA	p.A213A		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		213										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CATTAAGGAGCGCACGGGCGG	0.632																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(637-639)gcG>gcA		rhabdoid tumor deletion region gene 1							63.0	57.0	59.0					22																	23406094		2203	4300	6503	SO:0001819	synonymous_variant	27156						binding	g.chr22:23406094C>T																												ENST00000216036.4:c.639G>A	22.37:g.23406094C>T							p.A213A	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	5	835	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		213						Silent	SNP	ENST00000216036.4	37	c.639G>A	CCDS13803.1																																																																																				0.632	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			8	15	0	0	0	1	0	8	15				
RBPMS	11030	broad.mit.edu	37	8	30335338	30335338	+	Silent	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:30335338G>A	ENST00000320203.4	+	3	750	c.168G>A	c.(166-168)aaG>aaA	p.K56K	RBPMS_ENST00000339877.4_Silent_p.K56K|RBPMS_ENST00000538486.1_Silent_p.K56K|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.K56K|RBPMS_ENST00000287771.5_Silent_p.K56K|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000397323.4_Silent_p.K56K	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	56	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		CTCTTATAAAGCTCACATCTA	0.323																																						ENST00000320203.4																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(166-168)aaG>aaA		RNA binding protein with multiple splicing							135.0	132.0	133.0					8																	30335338		2202	4300	6502	SO:0001819	synonymous_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30335338G>A	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.168G>A	8.37:g.30335338G>A						RBPMS_ENST00000287771.5_Silent_p.K56K|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.K56K|RBPMS_ENST00000339877.4_Silent_p.K56K|RBPMS_ENST00000397323.4_Silent_p.K56K|RBPMS_ENST00000538486.1_Silent_p.K56K	p.K56K	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	3	750	+			56			RRM.		D3DSU9|Q92516|Q92517|Q92518|Q96J26	Silent	SNP	ENST00000320203.4	37	c.168G>A	CCDS6077.1																																																																																				0.323	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			12	25	0	0	0	1	0	12	25				
TMPRSS15	5651	broad.mit.edu	37	21	19726144	19726144	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr21:19726144A>G	ENST00000284885.3	-	9	950	c.917T>C	c.(916-918)aTt>aCt	p.I306T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	306	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTTGGAAAAAATTCTTATTGT	0.323																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(916-918)aTt>aCt		transmembrane protease, serine 15							69.0	75.0	73.0					21																	19726144		2203	4291	6494	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19726144A>G		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.917T>C	21.37:g.19726144A>G	ENSP00000284885:p.Ile306Thr						p.I306T	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			9	950	-			306			CUB 1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.917T>C	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	17.46	3.395124	0.62066	.	.	ENSG00000154646	ENST00000284885	T	0.32988	1.43	4.46	4.46	0.54185	CUB (5);	0.088509	0.48767	D	0.000162	T	0.41834	0.1176	L	0.33137	0.985	0.39323	D	0.965283	D	0.89917	1.0	D	0.79784	0.993	T	0.26395	-1.0104	9	.	.	.	.	12.7079	0.57073	1.0:0.0:0.0:0.0	.	306	P98073	ENTK_HUMAN	T	306	ENSP00000284885:I306T	.	I	-	2	0	TMPRSS15	18648015	1.000000	0.71417	0.989000	0.46669	0.981000	0.71138	5.657000	0.67996	1.878000	0.54408	0.454000	0.30748	ATT		0.323	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		18	48	0	0	0	1	0	18	48				
KRT6B	3854	broad.mit.edu	37	12	52841730	52841730	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:52841730G>A	ENST00000252252.3	-	7	1303	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	419	Coil 2.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		ATCCTTGAGGGCCATCTCCCC	0.577																																						ENST00000252252.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(1255-1257)gCc>gTc		keratin 6B							111.0	101.0	105.0					12																	52841730		2203	4300	6503	SO:0001583	missense	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52841730G>A	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1256C>T	12.37:g.52841730G>A	ENSP00000252252:p.Ala419Val						p.A419V	NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	7	1303	-			419			Coil 2.|Rod.		P48669	Missense_Mutation	SNP	ENST00000252252.3	37	c.1256C>T	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589515	0.66105	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	T	0.75589	-0.95	2.65	2.65	0.31530	Filament (1);	0.000000	0.64402	D	0.000017	D	0.87838	0.6278	M	0.91196	3.185	0.41763	D	0.989721	D	0.89917	1.0	D	0.80764	0.994	D	0.91298	0.5064	10	0.87932	D	0	.	14.4594	0.67438	0.0:0.0:1.0:0.0	.	419	P04259	K2C6B_HUMAN	V	419;379	ENSP00000252252:A419V	ENSP00000252252:A419V	A	-	2	0	KRT6B	51127997	1.000000	0.71417	0.999000	0.59377	0.699000	0.40488	4.295000	0.59049	1.806000	0.52798	0.305000	0.20034	GCC		0.577	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555		5	74	0	0	0	1	0	5	74				
ZNF565	147929	broad.mit.edu	37	19	36674609	36674609	+	Silent	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr19:36674609G>A	ENST00000355114.5	-	5	1105	c.379C>T	c.(379-381)Cta>Tta	p.L127L	ZNF565_ENST00000304116.5_Silent_p.L87L|ZNF565_ENST00000392173.2_Silent_p.L87L			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCTTTTTGTAGAAATTTCTCA	0.383																																						ENST00000355114.5																			0				large_intestine(4)|lung(4)|ovary(1)|skin(2)	11						c.(379-381)Cta>Tta		zinc finger protein 565							79.0	84.0	82.0					19																	36674609		2197	4299	6496	SO:0001819	synonymous_variant	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36674609G>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.379C>T	19.37:g.36674609G>A						ZNF565_ENST00000304116.5_Silent_p.L87L|ZNF565_ENST00000392173.2_Silent_p.L87L	p.L127L			Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1105	-	Esophageal squamous(110;0.162)		87					B3KQ35|Q6NUS2	Silent	SNP	ENST00000355114.5	37	c.379C>T																																																																																					0.383	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		26	62	0	0	0	1	0	26	62				
LAMC3	10319	broad.mit.edu	37	9	133948658	133948658	+	Silent	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr9:133948658G>A	ENST00000361069.4	+	20	3577	c.3444G>A	c.(3442-3444)caG>caA	p.Q1148Q	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1148	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTCCCAGTCAGCCGACCAAAT	0.582																																						ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(3442-3444)caG>caA		laminin, gamma 3							51.0	53.0	52.0					9																	133948658		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133948658G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3444G>A	9.37:g.133948658G>A						LAMC3_ENST00000480883.1_Intron	p.Q1148Q	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	20	3577	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1148			Domain II and I.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.3444G>A	CCDS6938.1																																																																																				0.582	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		20	21	0	0	0	1	0	20	21				
CCDC185	164127	broad.mit.edu	37	1	223567708	223567708	+	Silent	SNP	C	C	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:223567708C>T	ENST00000366875.3	+	1	994	c.891C>T	c.(889-891)acC>acT	p.T297T		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		297										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCAGATGACCCTGGAGCGGG	0.672																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(889-891)acC>acT		chromosome 1 open reading frame 65							9.0	10.0	10.0					1																	223567708		2181	4274	6455	SO:0001819	synonymous_variant	164127							g.chr1:223567708C>T																												ENST00000366875.3:c.891C>T	1.37:g.223567708C>T							p.T297T	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	994	+			297					Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	37	c.891C>T	CCDS1537.1																																																																																				0.672	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			3	6	0	0	0	1	0	3	6				
KMT2B	9757	broad.mit.edu	37	19	36214058	36214058	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr19:36214058C>T	ENST00000222270.7	+	6	2884	c.2884C>T	c.(2884-2886)Cgc>Tgc	p.R962C	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R962C	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	962					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CAAGAAGATGCGCATGGCTCG	0.637																																						ENST00000222270.7																			0											c.(2884-2886)Cgc>Tgc									51.0	60.0	57.0					19																	36214058		2137	4248	6385	SO:0001583	missense	0							g.chr19:36214058C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.2884C>T	19.37:g.36214058C>T	ENSP00000222270:p.Arg962Cys					WBP7_ENST00000420124.1_Missense_Mutation_p.R962C|KMT2B_ENST00000607650.1_RNA	p.R962C	NM_014727.1	NP_055542.1					6	2884	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.2884C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672682	0.47781	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.88431	-2.38;-2.38	5.56	3.35	0.38373	Zinc finger, CXXC-type (2);	0.000000	0.40144	N	0.001163	D	0.94374	0.8191	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94387	0.7610	10	0.87932	D	0	.	13.3678	0.60696	0.2965:0.7035:0.0:0.0	.	962	Q9UMN6	MLL4_HUMAN	C	962	ENSP00000222270:R962C;ENSP00000398837:R962C	ENSP00000222270:R962C	R	+	1	0	AD000671.1	40905898	1.000000	0.71417	0.995000	0.50966	0.921000	0.55340	1.311000	0.33562	0.629000	0.30376	0.655000	0.94253	CGC		0.637	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		3	43	0	0	0	1	0	3	43				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	44	0	0	0	1	0	18	44				
INPP5B	3633	broad.mit.edu	37	1	38355310	38355310	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:38355310T>C	ENST00000373026.1	-	8	956	c.956A>G	c.(955-957)cAg>cGg	p.Q319R	INPP5B_ENST00000373027.1_Missense_Mutation_p.Q75R|INPP5B_ENST00000373023.2_Missense_Mutation_p.Q319R|INPP5B_ENST00000458109.2_Missense_Mutation_p.Q2R|INPP5B_ENST00000467066.1_5'Flank|INPP5B_ENST00000373024.3_Missense_Mutation_p.Q239R			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	319					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAAACTTCTGCATGGATAA	0.408																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(955-957)cAg>cGg		inositol polyphosphate-5-phosphatase, 75kDa							165.0	156.0	159.0					1																	38355310		1873	4097	5970	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38355310T>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.956A>G	1.37:g.38355310T>C	ENSP00000362117:p.Gln319Arg					INPP5B_ENST00000458109.2_Missense_Mutation_p.Q2R|INPP5B_ENST00000373027.1_Missense_Mutation_p.Q75R|INPP5B_ENST00000373024.3_Missense_Mutation_p.Q239R|INPP5B_ENST00000373026.1_Missense_Mutation_p.Q319R	p.Q319R	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			9	1049	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	319					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.956A>G		.	.	.	.	.	.	.	.	.	.	T	15.38	2.817897	0.50633	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000458109	D;D;D;D;D	0.96459	-3.13;-2.99;-2.99;-2.96;-4.02	5.85	5.85	0.93711	.	0.242590	0.37095	N	0.002250	D	0.93996	0.8077	M	0.70275	2.135	0.30573	N	0.763288	B;B	0.31077	0.205;0.307	B;B	0.21546	0.035;0.027	D	0.90368	0.4378	10	0.18276	T	0.48	.	12.1456	0.54022	0.0:0.0:0.2508:0.7492	.	319;239	P32019;P32019-2	I5P2_HUMAN;.	R	75;319;319;319;239;2	ENSP00000362118:Q75R;ENSP00000362114:Q319R;ENSP00000362117:Q319R;ENSP00000362115:Q239R;ENSP00000397748:Q2R	ENSP00000362114:Q319R	Q	-	2	0	INPP5B	38127897	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.154000	0.64894	2.234000	0.73211	0.533000	0.62120	CAG		0.408	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		41	75	0	0	0	1	0	41	75				
GGPS1	9453	broad.mit.edu	37	1	235505740	235505740	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:235505740A>G	ENST00000282841.5	+	4	788	c.556A>G	c.(556-558)Att>Gtt	p.I186V	GGPS1_ENST00000476121.1_Missense_Mutation_p.I186V|GGPS1_ENST00000391855.2_Missense_Mutation_p.I132V|GGPS1_ENST00000358966.2_Missense_Mutation_p.I186V|GGPS1_ENST00000488594.1_Missense_Mutation_p.I186V			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	186					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|geranylgeranyl diphosphate biosynthetic process (GO:0033386)|isoprenoid metabolic process (GO:0006720)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	dimethylallyltranstransferase activity (GO:0004161)|farnesyltranstransferase activity (GO:0004311)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		Zoledronate(DB00399)	CTTTTTCCAAATTAGGGATGA	0.358																																						ENST00000282841.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8						c.(556-558)Att>Gtt		geranylgeranyl diphosphate synthase 1							104.0	111.0	108.0					1																	235505740		2203	4300	6503	SO:0001583	missense	9453				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding	g.chr1:235505740A>G	AB016043	CCDS1604.1	1q43	2010-04-27			ENSG00000152904	ENSG00000152904	2.5.1.1, 2.5.1.10, 2.5.1.29		4249	protein-coding gene	gene with protein product		606982				9741684, 10101267	Standard	NR_036605		Approved	GGPPS1	uc001hwv.3	O95749	OTTHUMG00000037963	ENST00000282841.5:c.556A>G	1.37:g.235505740A>G	ENSP00000282841:p.Ile186Val					GGPS1_ENST00000476121.1_Missense_Mutation_p.I186V|GGPS1_ENST00000488594.1_Missense_Mutation_p.I186V|GGPS1_ENST00000358966.2_Missense_Mutation_p.I186V|GGPS1_ENST00000391855.2_Missense_Mutation_p.I132V	p.I186V			O95749	GGPPS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)		4	788	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	186					A8MVQ8|Q5T2C8|Q6NW19	Missense_Mutation	SNP	ENST00000282841.5	37	c.556A>G	CCDS1604.1	.	.	.	.	.	.	.	.	.	.	A	19.99	3.929439	0.73327	.	.	ENSG00000152904	ENST00000488594;ENST00000471812;ENST00000358966;ENST00000282841;ENST00000391855;ENST00000476121;ENST00000497327	T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	6.17	6.17	0.99709	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	T	0.81969	0.4935	M	0.80028	2.48	0.80722	D	1	D	0.56521	0.976	D	0.64595	0.927	T	0.82942	-0.0207	10	0.51188	T	0.08	-18.6526	16.8222	0.85835	1.0:0.0:0.0:0.0	.	186	O95749	GGPPS_HUMAN	V	186;186;186;186;132;186;186	ENSP00000418690:I186V;ENSP00000417772:I186V;ENSP00000351852:I186V;ENSP00000282841:I186V;ENSP00000375728:I132V;ENSP00000420183:I186V;ENSP00000417865:I186V	ENSP00000282841:I186V	I	+	1	0	GGPS1	233572363	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.307000	0.96226	2.371000	0.80710	0.533000	0.62120	ATT		0.358	GGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092656.1	NM_004837		22	51	0	0	0	1	0	22	51				
ASAP1	50807	broad.mit.edu	37	8	131104362	131104362	+	Missense_Mutation	SNP	G	G	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:131104362G>C	ENST00000518721.1	-	25	2656	c.2429C>G	c.(2428-2430)cCt>cGt	p.P810R	ASAP1_ENST00000357668.1_Missense_Mutation_p.P810R	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	810	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGTGCTTAGAGGGAGTGTTGA	0.537																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2428-2430)cCt>cGt		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							83.0	81.0	82.0					8																	131104362		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131104362G>C	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2429C>G	8.37:g.131104362G>C	ENSP00000429900:p.Pro810Arg					ASAP1_ENST00000518721.1_Missense_Mutation_p.P810R	p.P810R			Q9ULH1	ASAP1_HUMAN			24	2456	-			810			Pro-rich.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2429C>G	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065314	0.76187	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.06687	3.27;3.27	5.3	5.3	0.74995	.	0.614995	0.18796	N	0.130912	T	0.16471	0.0396	L	0.50333	1.59	0.80722	D	1	P;P;P	0.52061	0.917;0.917;0.95	B;B;P	0.49887	0.421;0.421;0.625	T	0.00745	-1.1584	10	0.38643	T	0.18	.	18.3059	0.90180	0.0:0.0:1.0:0.0	.	810;810;813	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	R	813;810;810	ENSP00000350297:P810R;ENSP00000429900:P810R	ENSP00000344591:P813R	P	-	2	0	ASAP1	131173544	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.773000	0.91762	2.639000	0.89480	0.455000	0.32223	CCT		0.537	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		12	28	0	0	0	1	0	12	28				
PITX1	5307	broad.mit.edu	37	5	134367042	134367042	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr5:134367042T>C	ENST00000265340.7	-	2	742	c.326A>G	c.(325-327)cAg>cGg	p.Q109R	PITX1_ENST00000506438.1_Missense_Mutation_p.Q109R|CTC-349C3.1_ENST00000432382.3_5'Flank	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	109					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCGGTTCCTCTGGAACGTGGC	0.647																																						ENST00000265340.7																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14						c.(325-327)cAg>cGg		paired-like homeodomain 1							123.0	100.0	108.0					5																	134367042		2203	4300	6503	SO:0001583	missense	5307					nucleolus	sequence-specific DNA binding	g.chr5:134367042T>C	AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.326A>G	5.37:g.134367042T>C	ENSP00000265340:p.Gln109Arg					PITX1_ENST00000506438.1_Missense_Mutation_p.Q109R	p.Q109R	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)	2	742	-			109					A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	Missense_Mutation	SNP	ENST00000265340.7	37	c.326A>G	CCDS4182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	31|31	5.066667|5.066667	0.93898|0.93898	.|.	.|.	ENSG00000069011|ENSG00000069011	ENST00000265340;ENST00000506438;ENST00000507253;ENST00000502676|ENST00000503586	D;D;D;D|.	0.96168|.	-3.93;-3.93;-3.93;-3.93|.	4.39|4.39	4.39|4.39	0.52855|0.52855	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.57814|0.57814	0.2079|0.2079	L|L	0.41632|0.41632	1.29|1.29	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.62955|.	0.909|.	T|T	0.55685|0.55685	-0.8102|-0.8102	10|5	0.72032|.	D|.	0.01|.	.|.	13.9082|13.9082	0.63850|0.63850	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	109|.	P78337|.	PITX1_HUMAN|.	R|G	109|150	ENSP00000265340:Q109R;ENSP00000427542:Q109R;ENSP00000422908:Q109R;ENSP00000423624:Q109R|.	ENSP00000265340:Q109R|.	Q|R	-|-	2|1	0|2	PITX1|PITX1	134394941|134394941	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.934000|7.934000	0.87649|0.87649	1.755000|1.755000	0.51935|0.51935	0.460000|0.460000	0.39030|0.39030	CAG|AGA		0.647	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251195.3			22	24	0	0	0	1	0	22	24				
DIEXF	27042	broad.mit.edu	37	1	210012341	210012341	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:210012341A>G	ENST00000491415.2	+	7	1207	c.1150A>G	c.(1150-1152)Atc>Gtc	p.I384V		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	384					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CAAGAAGAAAATCATTGTGAG	0.507																																						ENST00000491415.2																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						c.(1150-1152)Atc>Gtc		digestive organ expansion factor homolog (zebrafish)							148.0	144.0	145.0					1																	210012341		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210012341A>G	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1150A>G	1.37:g.210012341A>G	ENSP00000419005:p.Ile384Val						p.I384V	NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN			7	1207	+			384					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.1150A>G	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.356960	0.24598	.	.	ENSG00000117597	ENST00000491415	T	0.41400	1.0	5.95	5.95	0.96441	.	0.241284	0.48767	D	0.000161	T	0.19927	0.0479	N	0.04090	-0.28	0.38171	D	0.939328	B	0.06786	0.001	B	0.06405	0.002	T	0.22730	-1.0208	10	0.13108	T	0.6	-11.2857	10.7126	0.45993	0.9294:0.0:0.0706:0.0	.	384	Q68CQ4	DIEXF_HUMAN	V	384	ENSP00000419005:I384V	ENSP00000419005:I384V	I	+	1	0	DIEXF	208078964	1.000000	0.71417	0.932000	0.37286	0.989000	0.77384	3.061000	0.49963	2.279000	0.76181	0.533000	0.62120	ATC		0.507	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		22	46	0	0	0	1	0	22	46				
ZMIZ1	57178	broad.mit.edu	37	10	81052057	81052057	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:81052057G>A	ENST00000334512.5	+	11	1473	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	301	Ala-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGCCACGGCCACTGTGGC	0.637																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(901-903)Gcc>Acc		zinc finger, MIZ-type containing 1							50.0	53.0	52.0					10																	81052057		2173	4240	6413	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81052057G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.901G>A	10.37:g.81052057G>A	ENSP00000334474:p.Ala301Thr					ZMIZ1_ENST00000478357.1_3'UTR	p.A301T	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1473	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		301			Ala-rich.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.901G>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	36	5.609914	0.96637	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.40225	1.04	5.16	5.16	0.70880	.	0.000000	0.39544	U	0.001329	T	0.63792	0.2541	M	0.67397	2.05	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.81914	0.995;0.824	T	0.62435	-0.6855	10	0.39692	T	0.17	-14.2732	18.6528	0.91437	0.0:0.0:1.0:0.0	.	211;301	Q9H7J0;Q9ULJ6	.;ZMIZ1_HUMAN	T	301;231;207	ENSP00000334474:A301T	ENSP00000334474:A301T	A	+	1	0	ZMIZ1	80722063	1.000000	0.71417	0.995000	0.50966	0.877000	0.50540	9.111000	0.94308	2.399000	0.81585	0.563000	0.77884	GCC		0.637	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		21	58	0	0	0	1	0	21	58				
DDX42	11325	broad.mit.edu	37	17	61890672	61890672	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr17:61890672G>A	ENST00000578681.1	+	16	2361	c.1760G>A	c.(1759-1761)gGc>gAc	p.G587D	DDX42_ENST00000583590.1_Missense_Mutation_p.G587D|DDX42_ENST00000359353.5_Missense_Mutation_p.G468D|DDX42_ENST00000457800.2_Missense_Mutation_p.G587D|DDX42_ENST00000389924.2_Missense_Mutation_p.G587D	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	587	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CATAGGATTGGCCGCACAGGA	0.498																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(1759-1761)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box helicase 42							112.0	93.0	99.0					17																	61890672		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61890672G>A	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1760G>A	17.37:g.61890672G>A	ENSP00000464050:p.Gly587Asp					DDX42_ENST00000389924.2_Missense_Mutation_p.G587D|DDX42_ENST00000359353.5_Missense_Mutation_p.G468D|DDX42_ENST00000457800.2_Missense_Mutation_p.G587D|DDX42_ENST00000583590.1_Missense_Mutation_p.G587D	p.G587D	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			16	2361	+			587			Helicase C-terminal.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1760G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329854	0.95733	.	.	ENSG00000198231	ENST00000389924;ENST00000457800	T;T	0.19669	2.13;2.13	5.52	5.52	0.82312	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	H	0.99689	4.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84200	0.0450	10	0.87932	D	0	-15.9729	18.809	0.92050	0.0:0.0:1.0:0.0	.	133;587	B3KV84;Q86XP3	.;DDX42_HUMAN	D	587	ENSP00000374574:G587D;ENSP00000390121:G587D	ENSP00000374574:G587D	G	+	2	0	DDX42	59244404	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.923000	0.87546	2.764000	0.94973	0.650000	0.86243	GGC		0.498	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		12	32	0	0	0	1	0	12	32				
TNKS2	80351	broad.mit.edu	37	10	93590772	93590772	+	Splice_Site	SNP	G	G	C			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:93590772G>C	ENST00000371627.4	+	10	1575		c.e10+1			NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2						multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGACTAAAGAGTAAGTATACA	0.313																																						ENST00000371627.4																			0				biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.e10+1		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							97.0	92.0	94.0					10																	93590772		2203	4300	6503	SO:0001630	splice_region_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93590772G>C	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1196+1G>C	10.37:g.93590772G>C								NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			10	1575	+		Colorectal(252;0.162)						B2RBD3|Q9H8F2|Q9HAS4	Splice_Site	SNP	ENST00000371627.4	37		CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527893	0.85706	.	.	ENSG00000107854	ENST00000371627	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNKS2	93580752	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.441000	0.97557	2.718000	0.92993	0.655000	0.94253	.		0.313	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	Intron	3	49	0	0	0	1	0	3	49				
FOXA2	3170	broad.mit.edu	37	20	22563350	22563350	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr20:22563350G>A	ENST00000377115.4	-	3	693	c.512C>T	c.(511-513)gCc>gTc	p.A171V	FOXA2_ENST00000419308.2_Missense_Mutation_p.A177V	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	171					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGCTGGATGGCCATGGTGAT	0.637																																						ENST00000419308.2																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22						c.(511-513)gCc>gTc		forkhead box A2							127.0	110.0	116.0					20																	22563350		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563350G>A	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.512C>T	20.37:g.22563350G>A	ENSP00000366319:p.Ala171Val					FOXA2_ENST00000377115.4_Missense_Mutation_p.A171V|FOXA2_ENST00000319993.4_Missense_Mutation_p.A177V	p.A171V	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN			2	714	-	Lung NSC(19;0.188)		171					Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.512C>T	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731114	0.89390	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.98164	-4.76;-4.76;-4.76	4.98	4.98	0.66077	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);Transcription factor, fork head, conserved site (1);	0.000000	0.64402	U	0.000014	D	0.99127	0.9699	M	0.89658	3.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.99537	1.0962	10	0.87932	D	0	.	17.8574	0.88769	0.0:0.0:1.0:0.0	.	171;177	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	V	171;171;177;57	ENSP00000366319:A171V;ENSP00000400341:A171V;ENSP00000315955:A177V	ENSP00000315955:A177V	A	-	2	0	FOXA2	22511350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.754000	0.98908	2.304000	0.77564	0.574000	0.79327	GCC		0.637	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			18	52	0	0	0	1	0	18	52				
DNAH17	8632	broad.mit.edu	37	17	76490800	76490800	+	Missense_Mutation	SNP	G	G	A	rs144975660	byFrequency	TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr17:76490800G>A	ENST00000585328.1	-	40	6254	c.6130C>T	c.(6130-6132)Cgg>Tgg	p.R2044W	DNAH17_ENST00000389840.5_Missense_Mutation_p.R2035W|RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2035					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCAGCGCCCGCATGAGCACC	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		16938	0.002		0.0	False		,,,				2504	0.0					ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(6103-6105)Cgg>Tgg		dynein, axonemal, heavy chain 17							45.0	53.0	51.0					17																	76490800		2130	4260	6390	SO:0001583	missense	8632							g.chr17:76490800G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.6130C>T	17.37:g.76490800G>A	ENSP00000465516:p.Arg2044Trp					DNAH17_ENST00000585328.1_Missense_Mutation_p.R2044W|RP11-559N14.5_ENST00000591373.1_RNA	p.R2035W					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		40	6227	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.6103C>T		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	14.84	2.656846	0.47467	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.33438	1.41	4.12	-3.59	0.04583	.	.	.	.	.	T	0.72882	0.3516	H	0.99842	4.835	0.37281	D	0.907828	.	.	.	.	.	.	D	0.83357	0.0000	7	0.87932	D	0	.	17.275	0.87112	0.0:0.0:0.7503:0.2497	.	.	.	.	W	2044;2035	ENSP00000374490:R2035W	ENSP00000300671:R2044W	R	-	1	2	DNAH17	74002395	0.995000	0.38212	0.973000	0.42090	0.383000	0.30230	0.229000	0.17833	-1.067000	0.03160	-0.535000	0.04281	CGG		0.627	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	40	0	0	0	1	0	3	40				
LINC00518	221718	broad.mit.edu	37	6	10430699	10430701	+	lincRNA	DEL	TTT	TTT	-	rs546794876|rs36119340|rs56888621	byFrequency	TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr6:10430699_10430701delTTT	ENST00000496285.1	-	0	489					NR_027793.1		Q8N0U6	CF218_HUMAN	long intergenic non-protein coding RNA 518																		CTCTGACTAGttttttttttttt	0.448														3875	0.773762	0.8094	0.7349	5008	,	,		20167	0.8095		0.6461	False		,,,				2504	0.8476					ENST00000496285.1																			0																																																			0							g.chr6:10430699_10430701delTTT	BC028118		6p24.3	2014-06-18	2011-11-25	2011-11-25	ENSG00000183674	ENSG00000183674		"""Long non-coding RNAs"""	28626	non-coding RNA	RNA, long non-coding			"""chromosome 6 open reading frame 218"""	C6orf218		12477932, 24906614	Standard	NR_027793		Approved	MGC40222	uc003myz.2	Q8N0U6	OTTHUMG00000159175		6.37:g.10430708_10430710delTTT								NR_027793.1						0	489	-									RNA	DEL	ENST00000496285.1	37																																																																																						0.448	LINC00518-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353699.1	NR_027793		2	4						2	4	---	---	---	---
SENP6	26054	broad.mit.edu	37	6	76412532	76412533	+	Frame_Shift_Ins	INS	-	-	A			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr6:76412532_76412533insA	ENST00000447266.2	+	19	2938_2939	c.2460_2461insA	c.(2461-2463)aagfs	p.K821fs	SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Frame_Shift_Ins_p.K814fs|SENP6_ENST00000370014.3_Frame_Shift_Ins_p.K821fs	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	821	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ACTCTTCTGCCAAGCCTGTAAT	0.381																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2458-2463)gcagccfs		SUMO1/sentrin specific peptidase 6																																				SO:0001589	frameshift_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76412532_76412533insA		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2462dupA	6.37:g.76412534_76412534dupA	ENSP00000402527:p.Lys821fs					SENP6_ENST00000541192.1_Intron|SENP6_ENST00000447266.2_Frame_Shift_Ins_p.A821fs|SENP6_ENST00000370010.2_Frame_Shift_Ins_p.A814fs	p.A821fs	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			19	3079_3080	+		all_hematologic(105;0.189)	821			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Frame_Shift_Ins	INS	ENST00000447266.2	37	c.2460_2461insA	CCDS47454.1																																																																																				0.381	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		20	54						20	54	---	---	---	---
SMCHD1	23347	broad.mit.edu	37	18	2750108	2750108	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr18:2750108delT	ENST00000320876.6	+	31	4333	c.3995delT	c.(3994-3996)gttfs	p.V1332fs	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.V1332fs	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1332					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTATTCAGTGTTTTTGCCCCT	0.368																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(3994-3996)gtfs		structural maintenance of chromosomes flexible hinge domain containing 1							123.0	111.0	115.0					18																	2750108		1842	4089	5931	SO:0001589	frameshift_variant	23347				chromosome organization		ATP binding	g.chr18:2750108delT	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3995delT	18.37:g.2750108delT	ENSP00000326603:p.Val1332fs					SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.V1332fs|RP11-703M24.5_ENST00000583546.1_RNA	p.V1332fs	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			31	4333	+			1332					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Frame_Shift_Del	DEL	ENST00000320876.6	37	c.3995delT	CCDS45822.1																																																																																				0.368	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			2	4						2	4	---	---	---	---
CTC-260E6.6	0	broad.mit.edu	37	19	20262850	20262850	+	RNA	DEL	T	T	-			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr19:20262850delT	ENST00000590606.1	-	0	0				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA																							TTCttttttcttttttttttt	0.468																																						ENST00000593655.1																			0																																																			0							g.chr19:20262850delT																													19.37:g.20262850delT						CTC-260E6.6_ENST00000586657.1_RNA								0	337	-									RNA	DEL	ENST00000590606.1	37																																																																																						0.468	CTC-260E6.6-005	KNOWN	basic	antisense	antisense	OTTHUMT00000452859.1			2	4						2	4	---	---	---	---
PDRG1	81572	broad.mit.edu	37	20	30539716	30539716	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr20:30539716delC	ENST00000202017.4	-	1	179	c.49delG	c.(49-51)gagfs	p.E18fs		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	18					protein folding (GO:0006457)	cytoplasm (GO:0005737)|prefoldin complex (GO:0016272)				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCGAGCTCCTCCACTTCTACA	0.711											OREG0025859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000202017.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8						c.(49-51)agfs		p53 and DNA-damage regulated 1							26.0	23.0	24.0					20																	30539716		2199	4297	6496	SO:0001589	frameshift_variant	81572				protein folding	prefoldin complex	unfolded protein binding	g.chr20:30539716delC	AL031658	CCDS13194.1	20q11.21	2009-06-12	2009-06-12	2004-10-07	ENSG00000088356	ENSG00000088356			16119	protein-coding gene	gene with protein product		610789	"""chromosome 20 open reading frame 126"""	C20orf126		14562055	Standard	NM_030815		Approved	dJ310O13.3	uc002wxd.3	Q9NUG6	OTTHUMG00000032196	ENST00000202017.4:c.49delG	20.37:g.30539716delC	ENSP00000202017:p.Glu18fs		OREG0025859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	102		p.E18fs	NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		1	179	-			18					B2R511|Q96GP3|Q9BUW8	Frame_Shift_Del	DEL	ENST00000202017.4	37	c.49delG	CCDS13194.1																																																																																				0.711	PDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078593.2	NM_030815		2	4						2	4	---	---	---	---
MAGEA8	4107	broad.mit.edu	37	X	149013062	149013062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chrX:149013062delA	ENST00000542674.1	+	3	537	c.16delA	c.(16-18)aagfs	p.K6fs	MAGEA8_ENST00000286482.1_Frame_Shift_Del_p.K6fs|MAGEA8_ENST00000535454.1_Frame_Shift_Del_p.K6fs|MAGEA8_ENST00000493910.1_3'UTR	NM_001166401.1	NP_001159873.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	6										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCAGAAGAGTCAGCG	0.602																																						ENST00000535454.1																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20						c.(16-18)agfs		melanoma antigen family A, 8							35.0	28.0	30.0					X																	149013062		2203	4298	6501	SO:0001589	frameshift_variant	4107							g.chrX:149013062delA		CCDS14692.1	Xq28	2009-03-13			ENSG00000156009	ENSG00000156009			6806	protein-coding gene	gene with protein product	"""MAGE-8 antigen"", ""cancer/testis antigen family 1, member 8"""	300341		MAGE8		8575766	Standard	NM_005364		Approved	MGC2182, CT1.8	uc004fdw.2	P43361	OTTHUMG00000022635	ENST00000542674.1:c.16delA	X.37:g.149013062delA	ENSP00000443776:p.Lys6fs					MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000542674.1_Frame_Shift_Del_p.K6fs|MAGEA8_ENST00000286482.1_Frame_Shift_Del_p.K6fs	p.K6fs	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN			4	565	+	Acute lymphoblastic leukemia(192;6.56e-05)		6					Q9BUN9	Frame_Shift_Del	DEL	ENST00000542674.1	37	c.16delA	CCDS14692.1																																																																																				0.602	MAGEA8-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058728.1	NM_005364		2	4						2	4	---	---	---	---
