#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
SLC16A6	9120	broad.mit.edu	37	17	66267712	66267712	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:66267712C>T	ENST00000327268.4	-	6	753	c.589G>A	c.(589-591)Gga>Aga	p.G197R	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.G197R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	197					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGCAGTGCTCCGAAGATGACA	0.473																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(589-591)Gga>Aga		solute carrier family 16, member 6	Pyruvic acid(DB00119)						100.0	95.0	97.0					17																	66267712		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267712C>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.589G>A	17.37:g.66267712C>T	ENSP00000319991:p.Gly197Arg					SLC16A6_ENST00000580666.1_Missense_Mutation_p.G197R|ARSG_ENST00000448504.2_Intron	p.G197R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	753	-	all_cancers(12;1.24e-09)		197					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.589G>A	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106383	0.77096	.	.	ENSG00000108932	ENST00000327268	T	0.59364	0.27	4.33	4.33	0.51752	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.110120	0.64402	D	0.000007	T	0.80171	0.4574	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85321	0.1084	10	0.87932	D	0	.	15.9884	0.80179	0.0:1.0:0.0:0.0	.	197	O15403	MOT7_HUMAN	R	197	ENSP00000319991:G197R	ENSP00000319991:G197R	G	-	1	0	SLC16A6	63779307	1.000000	0.71417	0.287000	0.24848	0.732000	0.41865	7.348000	0.79366	2.215000	0.71742	0.484000	0.47621	GGA		0.473	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		4	64	0	0	0	1	0	4	64				
CLEC11A	6320	broad.mit.edu	37	19	51227212	51227212	+	Silent	SNP	T	T	G			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr19:51227212T>G	ENST00000250340.4	+	2	395	c.198T>G	c.(196-198)ccT>ccG	p.P66P	CLEC11A_ENST00000599973.1_Silent_p.P66P	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	66					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATGAGAATCCTGCCGGAACTG	0.652											OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000250340.4																			0				kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(196-198)ccT>ccG		C-type lectin domain family 11, member A							34.0	38.0	37.0					19																	51227212		2203	4300	6503	SO:0001819	synonymous_variant	6320				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	g.chr19:51227212T>G	AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.198T>G	19.37:g.51227212T>G			OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	975	CLEC11A_ENST00000599973.1_Silent_p.P66P	p.P66P	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	2	395	+		all_neural(266;0.057)	66					B2RAD4	Silent	SNP	ENST00000250340.4	37	c.198T>G	CCDS12800.1																																																																																				0.652	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464062.1	NM_002975		9	24	0	0	0	1	0	9	24				
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	rs121913358|rs397516890|rs121913355		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:14612909, ECO:0000269|PubMed:17344846}.|G -> E (in CFC1 and colon cancer). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|G -> R (in NHL). {ECO:0000269|PubMed:14612909}.|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	42	Substitution - Missense(42)	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	lung(13)|large_intestine(9)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|biliary_tract(2)|NS(2)|upper_aerodigestive_tract(1)|cervix(1)|small_intestine(1)|oesophagus(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	GRCh37	CM060876	BRAF	M	rs121913355	c.(1405-1407)gGa>gCa		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						174.0	149.0	158.0					7																	140481402		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481402C>G	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1406G>C	7.37:g.140481402C>G	ENSP00000288602:p.Gly469Ala						p.G469A	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			11	1466	-	Melanoma(164;0.00956)		469		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1406G>C	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.088365|5.088365	0.94100|0.94100	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.89415	.|-2.51	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92008|0.92008	0.7468|0.7468	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	.|D	.|0.59357	.|0.985	.|P	.|0.58210	.|0.835	D|D	0.92595|0.92595	0.6086|0.6086	5|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|469	.|P15056	.|BRAF_HUMAN	Q|A	77|469	.|ENSP00000288602:G469A	.|ENSP00000288602:G469A	E|G	-|-	1|2	0|0	BRAF|BRAF	140127871|140127871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	97	0	0	0	1	0	10	97				
C11orf30	56946	broad.mit.edu	37	11	76247049	76247049	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:76247049T>G	ENST00000529032.1	+	14	2305	c.2305T>G	c.(2305-2307)Tca>Gca	p.S769A	C11orf30_ENST00000343878.3_Missense_Mutation_p.S769A|C11orf30_ENST00000525919.1_Missense_Mutation_p.S770A|C11orf30_ENST00000334736.3_Missense_Mutation_p.S769A|C11orf30_ENST00000533248.1_Intron|C11orf30_ENST00000524767.1_Missense_Mutation_p.S784A|C11orf30_ENST00000524490.1_Missense_Mutation_p.S685A|C11orf30_ENST00000525038.1_Missense_Mutation_p.S784A			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	769					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATCCAGTGAATCACAATCAGC	0.403																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(2305-2307)Tca>Gca		chromosome 11 open reading frame 30							82.0	72.0	75.0					11																	76247049		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76247049T>G	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2305T>G	11.37:g.76247049T>G	ENSP00000432327:p.Ser769Ala					C11orf30_ENST00000525038.1_Missense_Mutation_p.S784A|C11orf30_ENST00000524490.1_Missense_Mutation_p.S685A|C11orf30_ENST00000533248.1_Intron|C11orf30_ENST00000334736.3_Missense_Mutation_p.S769A|C11orf30_ENST00000525919.1_Missense_Mutation_p.S770A|C11orf30_ENST00000524767.1_Missense_Mutation_p.S784A|C11orf30_ENST00000343878.3_Missense_Mutation_p.S769A	p.S769A			Q7Z589	EMSY_HUMAN			14	2305	+			769					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.2305T>G	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302272	0.60195	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000524767;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.57	4.46	0.54185	.	0.056917	0.64402	D	0.000001	T	0.33469	0.0864	L	0.27053	0.805	0.51767	D	0.999931	B;B;B;P;B;P	0.38195	0.39;0.39;0.143;0.622;0.39;0.622	B;B;B;B;B;B	0.30179	0.079;0.079;0.081;0.112;0.079;0.112	T	0.15752	-1.0426	10	0.28530	T	0.3	-6.9773	10.9228	0.47174	0.0:0.0728:0.0:0.9272	.	784;784;137;770;685;769	B7ZKU2;B7ZKU0;B3KWW8;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	A	685;769;769;784;770;784;769	ENSP00000431166:S685A;ENSP00000334130:S769A;ENSP00000344688:S769A;ENSP00000433205:S784A;ENSP00000432010:S770A;ENSP00000436968:S784A;ENSP00000432327:S769A	ENSP00000334130:S769A	S	+	1	0	C11orf30	75924697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.456000	0.60081	2.122000	0.65172	0.528000	0.53228	TCA		0.403	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		7	12	0	0	0	1	0	7	12				
PTPRT	11122	broad.mit.edu	37	20	40827928	40827928	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr20:40827928G>A	ENST00000373187.1	-	16	2442	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C	PTPRT_ENST00000373193.3_Missense_Mutation_p.R818C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R824C|PTPRT_ENST00000373201.1_Missense_Mutation_p.R805C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R815C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R805C|PTPRT_ENST00000373198.4_Missense_Mutation_p.R834C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	815					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCATCATTGCGGCTGGCGCTG	0.582																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(2509-2511)Cgc>Tgc		protein tyrosine phosphatase, receptor type, T							253.0	259.0	257.0					20																	40827928		2048	4203	6251	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40827928G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2443C>T	20.37:g.40827928G>A	ENSP00000362283:p.Arg815Cys					PTPRT_ENST00000373201.1_Missense_Mutation_p.R805C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R824C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R805C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R815C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R818C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R815C	p.R837C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			17	2744	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	815					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.2509C>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.585342	0.66105	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.35973	1.32;1.32;1.31;1.28;1.3;1.28;1.29	5.73	4.73	0.59995	.	0.116284	0.64402	D	0.000010	T	0.27454	0.0674	N	0.04508	-0.205	0.50632	D	0.999882	P;P	0.52170	0.951;0.918	P;B	0.48901	0.594;0.39	T	0.31861	-0.9928	10	0.72032	D	0.01	.	16.7098	0.85382	0.0:0.0:0.8704:0.1296	.	837;815	O14522-1;O14522	.;PTPRT_HUMAN	C	815;815;818;824;837;805;805	ENSP00000362286:R815C;ENSP00000362283:R815C;ENSP00000362289:R818C;ENSP00000348408:R824C;ENSP00000362294:R837C;ENSP00000362280:R805C;ENSP00000362297:R805C	ENSP00000348408:R824C	R	-	1	0	PTPRT	40261342	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	7.126000	0.77201	2.861000	0.98227	0.655000	0.94253	CGC		0.582	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			7	424	0	0	0	1	0	7	424				
ARFGAP2	84364	broad.mit.edu	37	11	47198145	47198145	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:47198145C>T	ENST00000524782.1	-	2	341	c.113G>A	c.(112-114)aGc>aAc	p.S38N	ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S38N|ARFGAP2_ENST00000395449.3_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	38	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S38N(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTACGTGATGCTGGCCCAACT	0.632																																						ENST00000524782.1																			1	Substitution - Missense(1)	p.S38N(1)	prostate(1)	breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(112-114)aGc>aAc		ADP-ribosylation factor GTPase activating protein 2							76.0	76.0	76.0					11																	47198145		2201	4298	6499	SO:0001583	missense	84364				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr11:47198145C>T	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773	ENST00000524782.1:c.113G>A	11.37:g.47198145C>T	ENSP00000434442:p.Ser38Asn					ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S38N|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_5'UTR	p.S38N	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN			2	341	-			38			Arf-GAP.		B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.113G>A	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309429	0.95629	.	.	ENSG00000149182	ENST00000426335;ENST00000524782;ENST00000526342;ENST00000527927;ENST00000525398;ENST00000525314;ENST00000528444;ENST00000530596	T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.49	3.6	0.41247	.	0.042391	0.85682	N	0.000000	T	0.79592	0.4472	H	0.97023	3.925	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;0.999	D;D;D;D	0.91635	0.999;0.974;0.997;0.998	T	0.82725	-0.0315	10	0.87932	D	0	-19.3778	10.3	0.43646	0.136:0.7938:0.0:0.0702	.	38;38;38;38	B7Z6H9;B3KV00;G5E9L0;Q8N6H7	.;.;.;ARFG2_HUMAN	N	38	ENSP00000400226:S38N;ENSP00000434442:S38N;ENSP00000437305:S38N;ENSP00000434433:S38N;ENSP00000431939:S38N;ENSP00000434809:S38N;ENSP00000431684:S38N;ENSP00000435488:S38N	ENSP00000400226:S38N	S	-	2	0	ARFGAP2	47154721	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	0.674000	0.31244	0.462000	0.41574	AGC		0.632	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		10	81	0	0	0	1	0	10	81				
OR4C46	119749	broad.mit.edu	37	11	51515372	51515372	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:51515372G>A	ENST00000328188.1	+	1	91	c.91G>A	c.(91-93)Gtc>Atc	p.V31I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGTGTTTTTTGTCATCTATAT	0.433																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(91-93)Gtc>Atc		olfactory receptor, family 4, subfamily C, member 46							202.0	190.0	194.0					11																	51515372		2201	4296	6497	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515372G>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.91G>A	11.37:g.51515372G>A	ENSP00000329056:p.Val31Ile						p.V31I	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	91	+			31						Missense_Mutation	SNP	ENST00000328188.1	37	c.91G>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	0.420	-0.908609	0.02434	.	.	ENSG00000185926	ENST00000328188	T	0.00438	7.42	2.63	-5.26	0.02772	.	0.457271	0.16011	U	0.233825	T	0.00144	0.0004	N	0.13272	0.32	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.36089	-0.9762	10	0.14252	T	0.57	.	1.9122	0.03290	0.3079:0.3803:0.1844:0.1274	.	31	A6NHA9	O4C46_HUMAN	I	31	ENSP00000329056:V31I	ENSP00000329056:V31I	V	+	1	0	OR4C46	51371948	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	-4.373000	0.00244	-1.416000	0.02019	0.134000	0.15878	GTC		0.433	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		24	122	0	0	0	1	0	24	122				
RBP3	5949	broad.mit.edu	37	10	48389894	48389894	+	Silent	SNP	C	C	G	rs145181839		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:48389894C>G	ENST00000224600.4	-	1	1097	c.984G>C	c.(982-984)ggG>ggC	p.G328G	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	328	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTGGACTACCCCTGGAAGGG	0.672																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(982-984)ggG>ggC		retinol binding protein 3, interstitial	Vitamin A(DB00162)						36.0	35.0	35.0					10																	48389894		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389894C>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.984G>C	10.37:g.48389894C>G							p.G328G	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	1097	-			328			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.984G>C	CCDS7218.1																																																																																				0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		8	31	0	0	0	1	0	8	31				
PIK3C2A	5286	broad.mit.edu	37	11	17190738	17190738	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:17190738G>A	ENST00000265970.7	-	1	550	c.551C>T	c.(550-552)cCt>cTt	p.P184L	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	184					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TAAATATATAGGTTCTGTAGA	0.398																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(550-552)cCt>cTt		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						72.0	77.0	75.0					11																	17190738		2200	4293	6493	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190738G>A	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.551C>T	11.37:g.17190738G>A	ENSP00000265970:p.Pro184Leu					PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	p.P184L	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			1	550	-			184					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.551C>T	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019767	0.54576	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.64991	-0.13	5.53	5.53	0.82687	.	0.536188	0.21650	N	0.071193	T	0.62962	0.2471	L	0.29908	0.895	0.80722	D	1	D;P	0.55800	0.973;0.747	P;B	0.54270	0.747;0.255	T	0.55166	-0.8183	10	0.11794	T	0.64	-9.2283	19.4395	0.94813	0.0:0.0:1.0:0.0	.	184;184	F5H5W9;O00443	.;P3C2A_HUMAN	L	184	ENSP00000265970:P184L	ENSP00000265970:P184L	P	-	2	0	PIK3C2A	17147314	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	4.140000	0.58031	2.591000	0.87537	0.591000	0.81541	CCT		0.398	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		25	60	0	0	0	1	0	25	60				
HTRA1	5654	broad.mit.edu	37	10	124273783	124273783	+	Missense_Mutation	SNP	G	G	A	rs149822364	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:124273783G>A	ENST00000368984.3	+	9	1479	c.1351G>A	c.(1351-1353)Gtc>Atc	p.V451I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	451	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGTCAGCGACGTCATTAAAAG	0.483																																						ENST00000368984.3																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(1351-1353)Gtc>Atc		HtrA serine peptidase 1		G	ILE/VAL	0,4406		0,0,2203	250.0	220.0	230.0		1351	4.5	1.0	10	dbSNP_134	230	4,8596	3.7+/-12.6	0,4,4296	yes	missense	HTRA1	NM_002775.4	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign	451/481	124273783	4,13002	2203	4300	6503	SO:0001583	missense	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124273783G>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1351G>A	10.37:g.124273783G>A	ENSP00000357980:p.Val451Ile						p.V451I	NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN			9	1479	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	451			PDZ.		D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	c.1351G>A	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	G	12.47	1.949000	0.34377	0.0	4.65E-4	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	T;T	0.27557	1.66;1.66	5.38	4.47	0.54385	PDZ/DHR/GLGF (4);	0.363555	0.28156	N	0.016395	T	0.13329	0.0323	N	0.03224	-0.385	0.27811	N	0.942133	B	0.09022	0.002	B	0.11329	0.006	T	0.11743	-1.0575	10	0.36615	T	0.2	-9.7112	7.8443	0.29417	0.1094:0.1619:0.7286:0.0	.	451	Q92743	HTRA1_HUMAN	I	451;418;192	ENSP00000357980:V451I;ENSP00000412676:V192I	ENSP00000357980:V451I	V	+	1	0	HTRA1	124263773	1.000000	0.71417	0.993000	0.49108	0.545000	0.35147	3.478000	0.53158	1.254000	0.44035	0.655000	0.94253	GTC		0.483	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		51	140	0	0	0	1	0	51	140				
OR8D4	338662	broad.mit.edu	37	11	123777442	123777442	+	Missense_Mutation	SNP	T	T	C	rs79561639|rs74740497		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123777442T>C	ENST00000321355.2	+	1	334	c.304T>C	c.(304-306)Ttt>Ctt	p.F102L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GATTCAGCTGTTTTTTTTCTG	0.438																																						ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(304-306)Ttt>Ctt		olfactory receptor, family 8, subfamily D, member 4							229.0	230.0	229.0					11																	123777442		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777442T>C	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.304T>C	11.37:g.123777442T>C	ENSP00000325381:p.Phe102Leu						p.F102L	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	102					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.304T>C	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.436476	0.83885	.	.	ENSG00000181518	ENST00000321355	T	0.00397	7.57	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.143383	0.32357	N	0.006204	T	0.00754	0.0025	M	0.66378	2.025	0.43907	D	0.996542	D	0.61080	0.989	P	0.58873	0.847	T	0.78344	-0.2240	10	0.72032	D	0.01	.	14.9719	0.71241	0.0:0.0:0.0:1.0	.	102	Q8NGM9	OR8D4_HUMAN	L	102	ENSP00000325381:F102L	ENSP00000325381:F102L	F	+	1	0	OR8D4	123282652	0.996000	0.38824	0.602000	0.28890	0.493000	0.33554	6.053000	0.71089	2.177000	0.69029	0.533000	0.62120	TTT		0.438	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		5	207	0	0	0	1	0	5	207				
USH2A	7399	broad.mit.edu	37	1	215960060	215960060	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr1:215960060C>A	ENST00000307340.3	-	52	10725	c.10339G>T	c.(10339-10341)Gcc>Tcc	p.A3447S	USH2A_ENST00000366943.2_Missense_Mutation_p.A3447S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3447	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCTTCGGCAGATGAACAC	0.453										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(10339-10341)Gcc>Tcc		Usher syndrome 2A (autosomal recessive, mild)							190.0	157.0	168.0					1																	215960060		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215960060C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10339G>T	1.37:g.215960060C>A	ENSP00000305941:p.Ala3447Ser	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.A3447S	p.A3447S			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	52	10725	-			3447			Fibronectin type-III 19.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10339G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	5.795	0.331057	0.10956	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12672	2.67;2.66	4.88	2.94	0.34122	Fibronectin, type III (3);	0.378699	0.19411	N	0.114922	T	0.09555	0.0235	L	0.39898	1.24	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.39418	-0.9615	10	0.07813	T	0.8	.	9.4423	0.38677	0.1525:0.5527:0.2948:0.0	.	3447	O75445	USH2A_HUMAN	S	3447	ENSP00000305941:A3447S;ENSP00000355910:A3447S	ENSP00000305941:A3447S	A	-	1	0	USH2A	214026683	0.000000	0.05858	0.016000	0.15963	0.954000	0.61252	-0.004000	0.12878	0.415000	0.25817	0.655000	0.94253	GCC		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	76	1	0	1.23904e-05	1	1.23904e-05	5	76				
TRIM40	135644	broad.mit.edu	37	6	30104886	30104886	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:30104886G>A	ENST00000396581.1	+	2	459	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	TRIM40_ENST00000376724.2_Missense_Mutation_p.V25M|TRIM40_ENST00000489892.1_3'UTR|TRIM40_ENST00000307859.4_Missense_Mutation_p.V25M			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	25					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						GAAGGAGGCCGTGAGCACCAA	0.607																																						ENST00000396581.1																			0				ovary(1)	1						c.(73-75)Gtg>Atg		tripartite motif containing 40							91.0	72.0	79.0					6																	30104886		1511	2708	4219	SO:0001583	missense	135644					intracellular	zinc ion binding	g.chr6:30104886G>A	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.73G>A	6.37:g.30104886G>A	ENSP00000379826:p.Val25Met					TRIM40_ENST00000307859.4_Missense_Mutation_p.V25M|TRIM40_ENST00000376724.2_Missense_Mutation_p.V25M|TRIM40_ENST00000489892.1_3'UTR	p.V25M			Q6P9F5	TRI40_HUMAN			2	459	+			25					Q5SRJ6|Q5SS36|Q8TD96	Missense_Mutation	SNP	ENST00000396581.1	37	c.73G>A		.	.	.	.	.	.	.	.	.	.	G	12.93	2.085931	0.36758	.	.	ENSG00000204614	ENST00000396581;ENST00000376724;ENST00000307859	D;D;D	0.86562	-2.14;-2.14;-2.14	4.81	1.9	0.25705	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.638257	0.12908	N	0.429175	T	0.78729	0.4329	M	0.79475	2.455	0.19300	N	0.999978	P;D	0.63046	0.947;0.992	B;P	0.45639	0.371;0.488	T	0.71414	-0.4600	10	0.87932	D	0	.	4.2196	0.10551	0.2229:0.1879:0.5892:0.0	.	25;25	Q5SRJ6;Q6P9F5	.;TRI40_HUMAN	M	25	ENSP00000379826:V25M;ENSP00000365914:V25M;ENSP00000308310:V25M	ENSP00000308310:V25M	V	+	1	0	TRIM40	30212865	0.264000	0.24093	0.047000	0.18901	0.663000	0.39108	1.100000	0.31025	0.176000	0.19873	-0.241000	0.12123	GTG		0.607	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			19	49	0	0	0	1	0	19	49				
FOXG1	2290	broad.mit.edu	37	14	29237113	29237113	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:29237113T>C	ENST00000313071.4	+	1	827	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.F210L|RP11-966I7.1_ENST00000549487.1_RNA	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	210					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CATCTACGAGTTCATCATGAA	0.572																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(628-630)Ttc>Ctc		forkhead box G1							57.0	54.0	55.0					14																	29237113		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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.chr14:29237113T>C		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.628T>C	14.37:g.29237113T>C	ENSP00000339004:p.Phe210Leu					FOXG1_ENST00000313071.4_Missense_Mutation_p.F210L	p.F210L			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	997	+			210					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.628T>C	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.828961	0.90955	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.95690	-3.78;-3.78	3.69	3.69	0.42338	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	U	0.000000	D	0.96920	0.8994	M	0.72479	2.2	0.58432	D	0.999994	D	0.76494	0.999	D	0.76071	0.987	D	0.96981	0.9715	10	0.72032	D	0.01	.	12.0511	0.53507	0.0:0.0:0.0:1.0	.	210	P55316	FOXG1_HUMAN	L	210	ENSP00000371975:F210L;ENSP00000339004:F210L	ENSP00000339004:F210L	F	+	1	0	FOXG1	28306864	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.895000	0.87343	1.306000	0.44926	0.254000	0.18369	TTC		0.572	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			14	47	0	0	0	1	0	14	47				
KLK5	25818	broad.mit.edu	37	19	51451965	51451965	+	Silent	SNP	A	A	G			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr19:51451965A>G	ENST00000336334.3	-	5	1009	c.657T>C	c.(655-657)gaT>gaC	p.D219D	CTB-147C22.8_ENST00000594939.1_RNA|KLK5_ENST00000391809.2_Silent_p.D219D|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Silent_p.D219D	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	219	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TCGGGTAAGCATCCTCGCACC	0.493																																						ENST00000336334.3																			0				NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15						c.(655-657)gaT>gaC		kallikrein-related peptidase 5							165.0	133.0	144.0					19																	51451965		2203	4300	6503	SO:0001819	synonymous_variant	25818				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51451965A>G	AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.657T>C	19.37:g.51451965A>G						KLK5_ENST00000593428.1_Silent_p.D219D|KLK5_ENST00000391809.2_Silent_p.D219D	p.D219D	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)	5	1009	-		all_neural(266;0.026)	219			Peptidase S1.		Q53ZR3|Q9HBG8	Silent	SNP	ENST00000336334.3	37	c.657T>C	CCDS12810.1																																																																																				0.493	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465057.1	NM_012427		8	54	0	0	0	1	0	8	54				
GJA1	2697	broad.mit.edu	37	6	121768604	121768604	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:121768604C>T	ENST00000282561.3	+	2	768	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	204			T -> M (in dbSNP:rs2228965).		adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTCGCCCCACGGAGAAAACC	0.473																																						ENST00000282561.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33						c.(610-612)aCg>aTg		gap junction protein, alpha 1, 43kDa	Carvedilol(DB01136)						149.0	144.0	146.0					6																	121768604		2203	4300	6503	SO:0001583	missense	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768604C>T	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.611C>T	6.37:g.121768604C>T	ENSP00000282561:p.Thr204Met						p.T204M	NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	768	+			204		T -> M (in dbSNP:rs2228965).			B2R5U9|Q6FHU1|Q9Y5I8	Missense_Mutation	SNP	ENST00000282561.3	37	c.611C>T	CCDS5123.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633322	0.67015	.	.	ENSG00000152661	ENST00000440608;ENST00000282561	D	0.96459	-4.02	5.81	5.81	0.92471	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.98457	0.9486	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98411	1.0572	10	0.56958	D	0.05	.	20.0796	0.97766	0.0:1.0:0.0:0.0	.	204	P17302	CXA1_HUMAN	M	188;204	ENSP00000282561:T204M	ENSP00000282561:T204M	T	+	2	0	GJA1	121810303	1.000000	0.71417	0.964000	0.40570	0.716000	0.41182	7.776000	0.85560	2.758000	0.94735	0.460000	0.39030	ACG		0.473	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		11	139	0	0	0	1	0	11	139				
ABCC12	94160	broad.mit.edu	37	16	48139193	48139193	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr16:48139193C>T	ENST00000311303.3	-	19	2875	c.2530G>A	c.(2530-2532)Gca>Aca	p.A844T	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.A841T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	844	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCGATGTCTGCCAGCACCGCG	0.532																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2530-2532)Gca>Aca		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							148.0	103.0	119.0					16																	48139193		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48139193C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2530G>A	16.37:g.48139193C>T	ENSP00000311030:p.Ala844Thr					ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.A841T	p.A844T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			19	2875	-		all_cancers(37;0.0474)|all_lung(18;0.047)	844			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2530G>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333274	0.24167	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	T;T	0.46063	0.88;0.88	5.21	1.92	0.25849	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.787341	0.11737	N	0.534393	T	0.19167	0.0460	N	0.03071	-0.42	0.09310	N	0.999999	B	0.06786	0.001	B	0.12156	0.007	T	0.18053	-1.0349	10	0.39692	T	0.17	.	8.7747	0.34753	0.0:0.6176:0.297:0.0854	.	844	Q96J65	MRP9_HUMAN	T	844;841;762	ENSP00000311030:A844T;ENSP00000401855:A841T	ENSP00000311030:A844T	A	-	1	0	ABCC12	46696694	0.000000	0.05858	0.008000	0.14137	0.026000	0.11368	0.594000	0.24014	1.131000	0.42111	0.655000	0.94253	GCA		0.532	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		12	15	0	0	0	1	0	12	15				
PIK3CB	5291	broad.mit.edu	37	3	138426080	138426080	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr3:138426080T>C	ENST00000477593.1	-	10	1524	c.1451A>G	c.(1450-1452)tAt>tGt	p.Y484C	PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y484C|PIK3CB_ENST00000544716.1_Intron			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	484	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	ATTTTCAGTATATGGATTTGT	0.299																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1450-1452)tAt>tGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							102.0	101.0	101.0					3																	138426080		2203	4298	6501	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138426080T>C		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1451A>G	3.37:g.138426080T>C	ENSP00000418143:p.Tyr484Cys					PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y484C|PIK3CB_ENST00000544716.1_Intron	p.Y484C			P42338	PK3CB_HUMAN			10	1524	-			484					D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1451A>G	CCDS3104.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.5|21.5	4.162287|4.162287	0.78226|0.78226	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000493568|ENST00000477593;ENST00000289153	.|T;T	.|0.70164	.|-0.46;-0.46	5.84|5.84	5.84|5.84	0.93424|0.93424	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74230|0.74230	0.3689|0.3689	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;D	.|0.61697	.|0.99;0.973	.|D;P	.|0.65140	.|0.932;0.852	T|T	0.73739|0.73739	-0.3888|-0.3888	5|10	.|0.41790	.|T	.|0.15	-18.7039|-18.7039	16.2055|16.2055	0.82126|0.82126	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|484;88	.|P42338;B4DZI3	.|PK3CB_HUMAN;.	V|C	133|484	.|ENSP00000418143:Y484C;ENSP00000289153:Y484C	.|ENSP00000289153:Y484C	I|Y	-|-	1|2	0|0	PIK3CB|PIK3CB	139908770|139908770	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.715000|0.715000	0.41141|0.41141	7.466000|7.466000	0.80914|0.80914	2.226000|2.226000	0.72624|0.72624	0.482000|0.482000	0.46254|0.46254	ATA|TAT		0.299	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			7	25	0	0	0	1	0	7	25				
RRM1	6240	broad.mit.edu	37	11	4130909	4130909	+	Silent	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:4130909C>T	ENST00000300738.5	+	5	627	c.423C>T	c.(421-423)ttC>ttT	p.F141F	RRM1_ENST00000423050.2_Silent_p.F44F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	141					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ACCGAGATTTCTCTTACAATT	0.294																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(421-423)ttC>ttT		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						60.0	61.0	61.0					11																	4130909		2201	4297	6498	SO:0001819	synonymous_variant	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4130909C>T	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.423C>T	11.37:g.4130909C>T						RRM1_ENST00000423050.2_Silent_p.F44F	p.F141F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	5	627	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	141					Q9UNN2	Silent	SNP	ENST00000300738.5	37	c.423C>T	CCDS7750.1																																																																																				0.294	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		8	26	0	0	0	1	0	8	26				
MAP3K5	4217	broad.mit.edu	37	6	136913365	136913365	+	Silent	SNP	G	G	T	rs368851337		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:136913365G>T	ENST00000359015.4	-	23	3531	c.3171C>A	c.(3169-3171)atC>atA	p.I1057I	MAP3K5_ENST00000355845.4_Silent_p.I304I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1057					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTTCCGTCAGGATCCTGTGAA	0.438																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(3169-3171)atC>atA		mitogen-activated protein kinase kinase kinase 5							145.0	148.0	147.0					6																	136913365		2203	4300	6503	SO:0001819	synonymous_variant	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136913365G>T	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3171C>A	6.37:g.136913365G>T						MAP3K5_ENST00000355845.4_Silent_p.I304I	p.I1057I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	23	3531	-	Colorectal(23;0.24)		1057					A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	ENST00000359015.4	37	c.3171C>A	CCDS5179.1																																																																																				0.438	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			46	105	1	0	4.18559e-23	1	4.3849e-23	46	105				
GLIS1	148979	broad.mit.edu	37	1	53990499	53990499	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr1:53990499C>T	ENST00000312233.2	-	5	1585	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GACGTGCTTGCGGAGGGAGCT	0.637																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(1018-1020)cGc>cAc		GLIS family zinc finger 1							199.0	160.0	173.0					1																	53990499		2203	4300	6503	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53990499C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1019G>A	1.37:g.53990499C>T	ENSP00000309653:p.Arg340His						p.R340H	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			5	1585	-			340						Missense_Mutation	SNP	ENST00000312233.2	37	c.1019G>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534887	0.85812	.	.	ENSG00000174332	ENST00000312233	T	0.35789	1.29	4.2	4.2	0.49525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.139499	0.32488	N	0.006033	T	0.54095	0.1837	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59757	-0.7394	10	0.87932	D	0	.	16.9142	0.86147	0.0:1.0:0.0:0.0	.	340	Q8NBF1	GLIS1_HUMAN	H	340	ENSP00000309653:R340H	ENSP00000309653:R340H	R	-	2	0	GLIS1	53763087	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	7.810000	0.86072	2.074000	0.62210	0.313000	0.20887	CGC		0.637	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		4	172	0	0	0	1	0	4	172				
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1135-1137)aGa>aAa		EF-hand calcium binding domain 6							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	p.R379K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			11	1389	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		7	19	0	0	0	1	0	7	19				
ETNK1	55500	broad.mit.edu	37	12	22796887	22796887	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr12:22796887G>A	ENST00000266517.4	+	2	703	c.614G>A	c.(613-615)gGa>gAa	p.G205E	ETNK1_ENST00000335148.3_Missense_Mutation_p.G205E	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	205					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCAATAATGGACTATGCTAT	0.403																																					Esophageal Squamous(42;87 913 3224 6226 43339)	ENST00000266517.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(613-615)gGa>gAa		ethanolamine kinase 1							135.0	117.0	123.0					12																	22796887		2203	4299	6502	SO:0001583	missense	55500				phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity	g.chr12:22796887G>A	BC006111	CCDS8698.1, CCDS41760.1	12p12.2	2004-07-09			ENSG00000139163	ENSG00000139163			24649	protein-coding gene	gene with protein product		609858				11912161, 11044454	Standard	XM_005253420		Approved	EKI1, EKI	uc001rft.3	Q9HBU6	OTTHUMG00000169008	ENST00000266517.4:c.614G>A	12.37:g.22796887G>A	ENSP00000266517:p.Gly205Glu					ETNK1_ENST00000335148.3_Missense_Mutation_p.G205E	p.G205E	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN			2	703	+			205					G5E969	Missense_Mutation	SNP	ENST00000266517.4	37	c.614G>A	CCDS8698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.437712|4.437712	0.83885|0.83885	.|.	.|.	ENSG00000139163|ENSG00000139163	ENST00000538218;ENST00000541247|ENST00000266517;ENST00000381409;ENST00000335148	.|T;T	.|0.61274	.|0.12;0.12	5.36|5.36	4.47|4.47	0.54385|0.54385	.|Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83760|0.83760	0.5324|0.5324	H|H	0.97265|0.97265	3.97|3.97	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;0.999;1.0	D|D	0.89301|0.89301	0.3626|0.3626	5|10	.|0.87932	.|D	.|0	-11.2766|-11.2766	13.9098|13.9098	0.63860|0.63860	0.0731:0.0:0.9269:0.0|0.0731:0.0:0.9269:0.0	.|.	.|205;205;205	.|E9PD44;Q9HBU6;G5E969	.|.;EKI1_HUMAN;.	N|E	196;85|205	.|ENSP00000266517:G205E;ENSP00000334041:G205E	.|ENSP00000266517:G205E	D|G	+|+	1|2	0|0	ETNK1|ETNK1	22688154|22688154	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	8.946000|8.946000	0.92992|0.92992	1.399000|1.399000	0.46721|0.46721	0.557000|0.557000	0.71058|0.71058	GAC|GGA		0.403	ETNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401926.2	NM_018638		26	106	0	0	0	1	0	26	106				
LANCL1	10314	broad.mit.edu	37	2	211341083	211341083	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr2:211341083T>C	ENST00000443314.1	-	1	380	c.38A>G	c.(37-39)tAt>tGt	p.Y13C	LANCL1_ENST00000441020.3_Missense_Mutation_p.Y13C|CPS1_ENST00000430249.2_5'Flank|LANCL1_ENST00000450366.2_Missense_Mutation_p.Y13C|LANCL1_ENST00000233714.4_Missense_Mutation_p.Y13C|LANCL1_ENST00000431941.2_Missense_Mutation_p.Y13C			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	13					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GGATTTGTTATAATCAGCATA	0.542																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(37-39)tAt>tGt		LanC lantibiotic synthetase component C-like 1 (bacterial)							53.0	52.0	52.0					2																	211341083		2203	4300	6503	SO:0001583	missense	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211341083T>C	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.38A>G	2.37:g.211341083T>C	ENSP00000388713:p.Tyr13Cys					LANCL1_ENST00000441020.3_Missense_Mutation_p.Y13C|LANCL1_ENST00000450366.2_Missense_Mutation_p.Y13C|LANCL1_ENST00000431941.2_Missense_Mutation_p.Y13C|LANCL1_ENST00000233714.4_Missense_Mutation_p.Y13C	p.Y13C			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	1	380	-			13						Missense_Mutation	SNP	ENST00000443314.1	37	c.38A>G	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690536	0.48097	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.62788	0.26;0.26;0.26;0.26;0.26;0.0	5.58	3.16	0.36331	.	0.177641	0.51477	D	0.000090	T	0.60508	0.2274	M	0.75777	2.31	0.44337	D	0.997224	D	0.58620	0.983	B	0.42361	0.385	T	0.62845	-0.6768	10	0.87932	D	0	.	9.6338	0.39795	0.294:0.0:0.0:0.706	.	13	O43813	LANC1_HUMAN	C	13	ENSP00000388713:Y13C;ENSP00000393323:Y13C;ENSP00000393597:Y13C;ENSP00000233714:Y13C;ENSP00000397646:Y13C;ENSP00000396518:Y13C	ENSP00000233714:Y13C	Y	-	2	0	LANCL1	211049328	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	1.541000	0.36126	0.375000	0.24679	-0.377000	0.06932	TAT		0.542	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		15	35	0	0	0	1	0	15	35				
KRTAP5-5	439915	broad.mit.edu	37	11	1651423	1651423	+	Missense_Mutation	SNP	G	G	C	rs76164438		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:1651423G>C	ENST00000399676.2	+	1	391	c.353G>C	c.(352-354)gGc>gCc	p.G118A		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	118	8 X 4 AA repeats of C-C-X-P.			Missing (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)		p.G118A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TCCAAGGGGGGCTGTGGCTCC	0.701																																						ENST00000399676.2																			1	Substitution - Missense(1)	p.G118A(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(352-354)gGc>gCc		keratin associated protein 5-5							14.0	22.0	19.0					11																	1651423		1958	3943	5901	SO:0001583	missense	439915					keratin filament		g.chr11:1651423G>C	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.353G>C	11.37:g.1651423G>C	ENSP00000382584:p.Gly118Ala						p.G118A	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	391	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	118	Missing (in Ref. 1; BAD20201 and 2; CAF31639).		8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.353G>C	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.393260	0.00200	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01335	5.0	2.98	2.98	0.34508	.	.	.	.	.	T	0.02342	0.0072	M	0.78637	2.42	0.19775	N	0.999958	P	0.38827	0.649	B	0.34779	0.189	T	0.39941	-0.9589	9	0.21014	T	0.42	.	9.443	0.38679	0.0:0.0:1.0:0.0	.	118	Q701N2	KRA55_HUMAN	A	118;89	ENSP00000382584:G118A	ENSP00000382584:G118A	G	+	2	0	KRTAP5-5	1607999	0.991000	0.36638	0.997000	0.53966	0.025000	0.11179	3.998000	0.57024	1.240000	0.43803	0.418000	0.28097	GGC		0.701	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			4	91	0	0	0	1	0	4	91				
OR8D4	338662	broad.mit.edu	37	11	123777463	123777463	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123777463A>C	ENST00000321355.2	+	1	355	c.325A>C	c.(325-327)Att>Ctt	p.I109L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGTTTGTGTTATTTCTGAATG	0.468																																						ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(325-327)Att>Ctt		olfactory receptor, family 8, subfamily D, member 4							206.0	203.0	204.0					11																	123777463		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777463A>C	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.325A>C	11.37:g.123777463A>C	ENSP00000325381:p.Ile109Leu						p.I109L	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	355	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	109					Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.325A>C	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	A	10.30	1.310983	0.23821	.	.	ENSG00000181518	ENST00000321355	T	0.02944	4.1	5.81	3.39	0.38822	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000198	T	0.02533	0.0077	L	0.41079	1.255	0.09310	N	1	P	0.42785	0.79	B	0.38327	0.271	T	0.45116	-0.9283	10	0.72032	D	0.01	.	3.1743	0.06562	0.6419:0.1434:0.0767:0.1381	.	109	Q8NGM9	OR8D4_HUMAN	L	109	ENSP00000325381:I109L	ENSP00000325381:I109L	I	+	1	0	OR8D4	123282673	0.000000	0.05858	0.817000	0.32601	0.184000	0.23303	-0.157000	0.10085	1.032000	0.39892	-0.250000	0.11733	ATT		0.468	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		4	180	0	0	0	1	0	4	180				
SMOC1	64093	broad.mit.edu	37	14	70477514	70477514	+	Silent	SNP	A	A	G			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:70477514A>G	ENST00000381280.4	+	8	961	c.708A>G	c.(706-708)gaA>gaG	p.E236E	SMOC1_ENST00000361956.3_Silent_p.E236E	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	236	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GTGCCCTGGAAGAGGCCCAGC	0.537																																						ENST00000381280.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(706-708)gaA>gaG		SPARC related modular calcium binding 1							115.0	121.0	119.0					14																	70477514		2203	4300	6503	SO:0001819	synonymous_variant	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70477514A>G	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.708A>G	14.37:g.70477514A>G						SMOC1_ENST00000361956.3_Silent_p.E236E	p.E236E	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	8	961	+			236			Thyroglobulin type-1 2.		A8K1S3|B2R7P5|Q96F78	Silent	SNP	ENST00000381280.4	37	c.708A>G	CCDS9798.1																																																																																				0.537	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			39	111	0	0	0	1	0	39	111				
RGS12	6002	broad.mit.edu	37	4	3319513	3319513	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr4:3319513C>T	ENST00000344733.5	+	2	2520	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L	RGS12_ENST00000336727.3_Missense_Mutation_p.P539L|RGS12_ENST00000382788.3_Missense_Mutation_p.P539L|RGS12_ENST00000543385.1_Missense_Mutation_p.P539L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	539					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCTGGCTCCCGGTCCACGTG	0.637																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1615-1617)cCg>cTg		regulator of G-protein signaling 12							34.0	35.0	35.0					4																	3319513		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3319513C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1616C>T	4.37:g.3319513C>T	ENSP00000339381:p.Pro539Leu					RGS12_ENST00000382788.3_Missense_Mutation_p.P539L|RGS12_ENST00000543385.1_Missense_Mutation_p.P539L|RGS12_ENST00000344733.5_Missense_Mutation_p.P539L	p.P539L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	2520	+			539					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.1616C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329514	0.60743	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.38887	1.11;1.12;1.14;1.14	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	M	0.63843	1.955	0.80722	D	1	P;D;D	0.62365	0.935;0.991;0.982	B;P;P	0.48677	0.285;0.463;0.586	T	0.58578	-0.7612	10	0.72032	D	0.01	-23.8571	15.8184	0.78621	0.0:1.0:0.0:0.0	.	539;539;539	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	L	539	ENSP00000440566:P539L;ENSP00000339381:P539L;ENSP00000338509:P539L;ENSP00000372238:P539L	ENSP00000338509:P539L	P	+	2	0	RGS12	3289311	1.000000	0.71417	0.918000	0.36340	0.775000	0.43874	6.703000	0.74633	2.196000	0.70406	0.491000	0.48974	CCG		0.637	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		10	41	0	0	0	1	0	10	41				
PCDHA2	56146	broad.mit.edu	37	5	140176001	140176001	+	Silent	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr5:140176001G>A	ENST00000526136.1	+	1	1452	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Silent_p.A484A|PCDHA2_ENST00000378132.1_Silent_p.A484A|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	484	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACGCGCAGGAGAACG	0.657																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1450-1452)gcG>gcA									70.0	72.0	71.0					5																	140176001		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140176001G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1452G>A	5.37:g.140176001G>A						PCDHA2_ENST00000378132.1_Silent_p.A484A|PCDHA2_ENST00000520672.2_Silent_p.A484A|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.A484A	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1452	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1452G>A	CCDS54914.1																																																																																				0.657	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		20	96	0	0	0	1	0	20	96				
EEF2K	29904	broad.mit.edu	37	16	22268698	22268698	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr16:22268698G>A	ENST00000263026.5	+	8	1367	c.893G>A	c.(892-894)gGc>gAc	p.G298D		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	298	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TTTGGAGACGGCAACCTAGGT	0.557																																					NSCLC(195;1411 2157 20319 27471 51856)	ENST00000263026.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29						c.(892-894)gGc>gAc		eukaryotic elongation factor-2 kinase							117.0	93.0	101.0					16																	22268698		2197	4300	6497	SO:0001583	missense	29904				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	g.chr16:22268698G>A	U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.893G>A	16.37:g.22268698G>A	ENSP00000263026:p.Gly298Asp						p.G298D	NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN		GBM - Glioblastoma multiforme(48;0.0223)	8	1367	+			298			Alpha-type protein kinase.		Q8N588	Missense_Mutation	SNP	ENST00000263026.5	37	c.893G>A	CCDS10604.1	.	.	.	.	.	.	.	.	.	.	G	34	5.393486	0.96009	.	.	ENSG00000103319	ENST00000263026	T	0.08282	3.11	5.87	5.87	0.94306	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.57015	-0.7883	10	0.87932	D	0	-11.4961	20.2191	0.98319	0.0:0.0:1.0:0.0	.	298	O00418	EF2K_HUMAN	D	298	ENSP00000263026:G298D	ENSP00000263026:G298D	G	+	2	0	EEF2K	22176199	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.211000	0.95120	2.780000	0.95670	0.655000	0.94253	GGC		0.557	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211580.2	NM_013302		4	100	0	0	0	1	0	4	100				
SIX1	6495	broad.mit.edu	37	14	61115638	61115638	+	Silent	SNP	C	C	T			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:61115638C>T	ENST00000247182.6	-	1	542	c.270G>A	c.(268-270)gcG>gcA	p.A90A	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	90					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A90A(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCACGTAATGCGCCTTCAGCC	0.627																																						ENST00000247182.6																			1	Substitution - coding silent(1)	p.A90A(1)	lung(1)	breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13						c.(268-270)gcG>gcA		SIX homeobox 1							105.0	107.0	107.0					14																	61115638		2203	4300	6503	SO:0001819	synonymous_variant	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115638C>T	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.270G>A	14.37:g.61115638C>T						SIX1_ENST00000554986.1_Intron	p.A90A	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	542	-			90					Q53Y16|Q96H64	Silent	SNP	ENST00000247182.6	37	c.270G>A	CCDS9748.1																																																																																				0.627	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			6	196	0	0	0	1	0	6	196				
CACNA1G	8913	broad.mit.edu	37	17	48685232	48685232	+	Silent	SNP	G	G	A	rs370754259		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:48685232G>A	ENST00000359106.5	+	25	4557	c.4557G>A	c.(4555-4557)tcG>tcA	p.S1519S	CACNA1G_ENST00000505165.1_Silent_p.S1519S|CACNA1G_ENST00000515411.1_Silent_p.S1519S|CACNA1G_ENST00000512389.1_Silent_p.S1519S|CACNA1G_ENST00000515765.1_Silent_p.S1519S|CACNA1G_ENST00000507510.2_Silent_p.S1519S|CACNA1G_ENST00000502264.1_Silent_p.S1496S|CACNA1G_ENST00000507336.1_Silent_p.S1519S|CACNA1G_ENST00000510115.1_Silent_p.S1496S|CACNA1G_ENST00000507896.1_Silent_p.S1519S|CACNA1G_ENST00000358244.5_Silent_p.S1496S|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000360761.4_Silent_p.S1496S|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000429973.2_Silent_p.S1519S|CACNA1G_ENST00000354983.4_Silent_p.S1496S|CACNA1G_ENST00000515165.1_Silent_p.S1519S|CACNA1G_ENST00000514181.1_Silent_p.S1519S|CACNA1G_ENST00000352832.5_Silent_p.S1496S|CACNA1G_ENST00000514079.1_Silent_p.S1519S|CACNA1G_ENST00000442258.2_Silent_p.S1496S|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Silent_p.S1519S|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000513689.2_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1519					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTTCATCTCGTTCCTGCTCA	0.577																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4486-4488)tcG>tcA		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	G	,,,,,,,,,,,,,	0,4256		0,0,2128	189.0	186.0	187.0		4557,4488,4488,4557,4488,4557,4488,4488,4557,4557,4557,4488,4488,4488	0.6	1.0	17		187	1,8465		0,1,4232	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1G	NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1	,,,,,,,,,,,,,	0,1,6360	AA,AG,GG		0.0118,0.0,0.0079	,,,,,,,,,,,,,	1519/2378,1496/2172,1496/2355,1519/2274,1496/2299,1519/2322,1496/2262,1496/2307,1519/2285,1519/2333,1519/2267,1496/2251,1496/2244,1496/2344	48685232	1,12721	2128	4233	6361	SO:0001819	synonymous_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48685232G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4557G>A	17.37:g.48685232G>A						CACNA1G_ENST00000358244.5_Silent_p.S1496S|CACNA1G_ENST00000502264.1_Silent_p.S1496S|CACNA1G_ENST00000442258.2_Silent_p.S1496S|CACNA1G_ENST00000354983.4_Silent_p.S1496S|CACNA1G_ENST00000507896.1_Silent_p.S1519S|CACNA1G_ENST00000515411.1_Silent_p.S1519S|CACNA1G_ENST00000514181.1_Silent_p.S1519S|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000514079.1_Silent_p.S1519S|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000515165.1_Silent_p.S1519S|CACNA1G_ENST00000515765.1_Silent_p.S1519S|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000510115.1_Silent_p.S1496S|CACNA1G_ENST00000429973.2_Silent_p.S1519S|CACNA1G_ENST00000507510.2_Silent_p.S1519S|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507336.1_Silent_p.S1519S|CACNA1G_ENST00000360761.4_Silent_p.S1496S|CACNA1G_ENST00000507609.1_Silent_p.S1519S|CACNA1G_ENST00000512389.1_Silent_p.S1519S|CACNA1G_ENST00000359106.5_Silent_p.S1519S|CACNA1G_ENST00000505165.1_Silent_p.S1519S	p.S1496S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		24	4860	+	Breast(11;6.7e-17)		1519					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	c.4488G>A	CCDS45730.1																																																																																				0.577	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		12	81	0	0	0	1	0	12	81				
C10orf71	118461	broad.mit.edu	37	10	50530906	50530906	+	Missense_Mutation	SNP	G	G	A	rs201139916	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:50530906G>A	ENST00000374144.3	+	3	604	c.316G>A	c.(316-318)Gtt>Att	p.V106I	C10orf71_ENST00000323868.4_Missense_Mutation_p.V106I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	106										endometrium(1)	1						ACCCAAGTACGTTCAGGGAGA	0.592													G|||	7	0.00139776	0.0038	0.0029	5008	,	,		17797	0.0		0.0	False		,,,				2504	0.0					ENST00000374144.3																			0				endometrium(1)	1						c.(316-318)Gtt>Att		chromosome 10 open reading frame 71		G	ILE/VAL,ILE/VAL	18,3874		0,18,1928	107.0	120.0	116.0		316,316	4.9	0.7	10		116	0,8262		0,0,4131	yes	missense,missense	C10orf71	NM_001135196.1,NM_199459.3	29,29	0,18,6059	AA,AG,GG		0.0,0.4625,0.1481	probably-damaging,probably-damaging	106/1436,106/720	50530906	18,12136	1946	4131	6077	SO:0001583	missense	118461							g.chr10:50530906G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.316G>A	10.37:g.50530906G>A	ENSP00000363259:p.Val106Ile					C10orf71_ENST00000323868.4_Missense_Mutation_p.V106I	p.V106I			Q711Q0	CJ071_HUMAN			3	604	+			106					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.316G>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271258	0.59649	0.004625	0.0	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.16743	2.32;3.45	4.94	4.94	0.65067	.	0.000000	0.43260	D	0.000599	T	0.25494	0.0620	M	0.66939	2.045	0.09310	N	1	D	0.62365	0.991	P	0.51324	0.666	T	0.17745	-1.0359	10	0.40728	T	0.16	.	7.6954	0.28592	0.0823:0.0:0.754:0.1637	.	106	Q711Q0-3	.	I	106	ENSP00000318713:V106I;ENSP00000363259:V106I	ENSP00000318713:V106I	V	+	1	0	C10orf71	50200912	0.983000	0.35010	0.660000	0.29694	0.928000	0.56348	2.746000	0.47467	2.287000	0.76781	0.462000	0.41574	GTT		0.592	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		8	119	0	0	0	1	0	8	119				
OR4D5	219875	broad.mit.edu	37	11	123810394	123810394	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123810394G>A	ENST00000307033.2	+	1	145	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGAGCTTCGGTTTGTTTTC	0.463																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(70-72)cGg>cAg		olfactory receptor, family 4, subfamily D, member 5							98.0	94.0	95.0					11																	123810394		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810394G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.71G>A	11.37:g.123810394G>A	ENSP00000305970:p.Arg24Gln						p.R24Q	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	145	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	24					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.71G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.495991	0.01009	.	.	ENSG00000171014	ENST00000307033	T	0.00211	8.54	5.27	3.39	0.38822	.	0.325829	0.22061	N	0.065174	T	0.00039	0.0001	N	0.00670	-1.27	0.09310	N	1	B	0.26147	0.143	B	0.20384	0.029	T	0.14420	-1.0473	10	0.02654	T	1	-7.0026	7.9326	0.29912	0.2791:0.0:0.7209:0.0	.	24	Q8NGN0	OR4D5_HUMAN	Q	24	ENSP00000305970:R24Q	ENSP00000305970:R24Q	R	+	2	0	OR4D5	123315604	0.002000	0.14202	0.095000	0.20976	0.512000	0.34134	1.244000	0.32778	1.211000	0.43351	0.650000	0.86243	CGG		0.463	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		13	67	0	0	0	1	0	13	67				
AQP1	358	broad.mit.edu	37	7	30961798	30961799	+	Frame_Shift_Ins	INS	-	-	C	rs200005344	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr7:30961798_30961799insC	ENST00000311813.4	+	2	557_558	c.502_503insC	c.(502-504)gccfs	p.A168fs	AQP1_ENST00000441328.2_Frame_Shift_Ins_p.A85fs|AQP1_ENST00000409611.1_Frame_Shift_Ins_p.A117fs|AQP1_ENST00000509504.1_Frame_Shift_Ins_p.A345fs|AQP1_ENST00000434909.2_Frame_Shift_Ins_p.A228fs|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409899.1_Frame_Shift_Ins_p.A53fs	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	168					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	TGGTGGCTCAGCCCCCCTTGCC	0.683																																						ENST00000311813.4																			0				kidney(1)|large_intestine(2)|lung(9)	12						c.(502-504)cccfs		aquaporin 1																																				SO:0001589	frameshift_variant	358							g.chr7:30961798_30961799insC	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.508dupC	7.37:g.30961804_30961804dupC	ENSP00000311165:p.Ala168fs					AQP1_ENST00000441328.2_Frame_Shift_Ins_p.P85fs|AQP1_ENST00000509504.1_Frame_Shift_Ins_p.P345fs|AQP1_ENST00000434909.2_Frame_Shift_Ins_p.P228fs|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409611.1_Frame_Shift_Ins_p.P117fs|AQP1_ENST00000409899.1_Frame_Shift_Ins_p.P53fs	p.P168fs	NM_198098.2	NP_932766.1					2	557_558	+		Melanoma(862;0.16)						B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Frame_Shift_Ins	INS	ENST00000311813.4	37	c.502_503insC	CCDS5431.1																																																																																				0.683	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		26	48						26	48	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		2	4						2	4	---	---	---	---
GPSM1	26086	broad.mit.edu	37	9	139235482	139235482	+	Intron	DEL	C	C	-	rs374298038|rs145729152	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr9:139235482delC	ENST00000440944.1	+	9	1427				GPSM1_ENST00000392945.3_Frame_Shift_Del_p.L413fs	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGTCTTGCTCCCCACAGGCA	0.687													?|CCCC|CCC|unsure	747	0.149161	0.0961	0.0793	5008	,	,		14952	0.252		0.1372	False		,,,				2504	0.1769					ENST00000392945.3																			0				biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(1237-1239)ctfs		G-protein signaling modulator 1			,	494,3628		54,386,1621	12.0	14.0	14.0		,	0.3	0.0	9	dbSNP_134	15	1203,6943		136,931,3006	no	frameshift,intron	GPSM1	NM_015597.4,NM_001145638.1	,	190,1317,4627	A1A1,A1R,RR		14.768,11.9845,13.8327	,	,	139235482	1697,10571	2116	4195	6311	SO:0001627	intron_variant	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139235482delC	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1207+32C>-	9.37:g.139235482delC						GPSM1_ENST00000440944.1_Intron	p.L413fs	NM_015597.4	NP_056412.4	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	9	1459	+		Myeloproliferative disorder(178;0.0821)	0			Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Frame_Shift_Del	DEL	ENST00000440944.1	37	c.1239delC	CCDS48055.1																																																																																				0.687	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		9	0						9	0	---	---	---	---
WDR11	55717	broad.mit.edu	37	10	122646216	122646219	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:122646216_122646219delAGAA	ENST00000263461.6	+	16	2235_2238	c.1989_1992delAGAA	c.(1987-1992)gcagaafs	p.AE663fs	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0			V -> G (in dbSNP:rs7747479). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17636024, ECO:0000269|PubMed:20068231, ECO:0000269|Ref.2, ECO:0000269|Ref.4}.		cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGCAGGAGGCAGAAAGTAAATCTG	0.382																																						ENST00000263461.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(1987-1992)gcfs		WD repeat domain 11																																				SO:0001589	frameshift_variant	55717					integral to membrane		g.chr10:122646216_122646219delAGAA	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.1989_1992delAGAA	10.37:g.122646216_122646219delAGAA	ENSP00000263461:p.Ala663fs					WDR11_ENST00000604509.1_3'UTR	p.AE663fs	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN			16	2235_2238	+			663					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Del	DEL	ENST00000263461.6	37	c.1989_1992delAGAA	CCDS7619.1																																																																																				0.382	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			7	34						7	34	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		7	261						7	261	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29450110	29450110	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr12:29450110delA	ENST00000536681.3	+	4	768	c.522delA	c.(520-522)ccafs	p.P174fs	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	174					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CTGTGGAGCCAAAAAAAATCA	0.388																																						ENST00000182377.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(520-522)ccfs		fatty acyl CoA reductase 2							108.0	116.0	113.0					12																	29450110		2203	4300	6503	SO:0001589	frameshift_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29450110delA	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.522delA	12.37:g.29450110delA	ENSP00000443291:p.Pro174fs					FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|RP11-996F15.2_ENST00000553105.1_RNA	p.P174fs	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN			4	790	+			174					F8VV73|Q9H0D5|Q9NVW8	Frame_Shift_Del	DEL	ENST00000536681.3	37	c.522delA	CCDS8717.1																																																																																				0.388	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		7	165						7	165	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	6						3	6	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr16:29113498delT	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAGGTGGAttttttttttc	0.542													|||unknown(NO_COVERAGE)	2145	0.428315	0.5507	0.4856	5008	,	,		13214	0.248		0.4334	False		,,,				2504	0.4029					ENST00000564580.1																			0																																																			0							g.chr16:29113498delT																													16.37:g.29113498delT														0	1360	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.542	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			6	11						6	11	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)atcfs	p.I91fs	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323																																						ENST00000066544.3																			1	Deletion - Frameshift(1)	p.I91fs*54(1)	ovary(1)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(271-273)tcfs		cell division cycle 27							84.0	94.0	91.0					17																	45247389		2203	4299	6502	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45247389delT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.271delA	17.37:g.45247389delT	ENSP00000066544:p.Ile91fs					RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs	p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			4	364	-			91					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.271delA	CCDS11509.1																																																																																				0.323	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			10	116						10	116	---	---	---	---
