#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
CFAP74	85452	broad.mit.edu	37	1	1888126	1888126	+	IGR	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:1888126G>A								TMEM52 (37414 upstream) : C1orf222 (31436 downstream)																							CTTGAAAGTCGTGCCCAAGCC	0.582																																						uc001aim.1																			0		p.T650S(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32						c.(1948-1950)aCg>aTg		Homo sapiens KIAA1751 (KIAA1751), mRNA.							70.0	77.0	75.0					1																	1888126		2159	4271	6430	SO:0001628	intergenic_variant	85452							g.chr1:1888126G>A																													1.37:g.1888126G>A						KIAA1751_uc009vkz.1_Missense_Mutation_p.T650M	p.T650M	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	16	2105	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	650						Missense_Mutation	SNP		37	c.1949C>T		.	.	.	.	.	.	.	.	.	.	G	14.84	2.656478	0.47467	.	.	ENSG00000142609	ENST00000270720;ENST00000461752	.	.	.	4.75	4.75	0.60458	.	0.297744	0.26210	N	0.025697	T	0.79173	0.4401	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81519	-0.0896	9	0.59425	D	0.04	-30.0011	15.6211	0.76808	0.0:0.0:1.0:0.0	.	650;650	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	M	650;97	.	ENSP00000270720:T650M	T	-	2	0	C1orf222	1877986	1.000000	0.71417	0.936000	0.37596	0.065000	0.16274	5.113000	0.64640	2.352000	0.79861	0.655000	0.94253	ACG	0	0.582								
TAS1R2	80834	broad.mit.edu	37	1	19166593	19166593	+	Missense_Mutation	SNP	G	G	A	rs528372608	byFrequency	TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:19166593G>A	ENST00000375371.3	-	6	2041	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	674					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCCTGGTAGCGGACCCAGTAG	0.572													G|||	3	0.000599042	0.0	0.0	5008	,	,		21373	0.003		0.0	False		,,,				2504	0.0					uc001bba.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(2020-2022)Cgc>Tgc		Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	Aspartame(DB00168)						139.0	149.0	146.0					1																	19166593		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166593G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.2020C>T	1.37:g.19166593G>A	ENSP00000364520:p.Arg674Cys						p.R674C	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	2021	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	674					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.2020C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177566	0.57692	.	.	ENSG00000179002	ENST00000375371	D	0.89270	-2.49	5.3	3.27	0.37495	GPCR, family 3, C-terminal (2);	0.502056	0.15479	N	0.260195	D	0.93380	0.7889	M	0.88570	2.965	0.41023	D	0.985098	D	0.89917	1.0	D	0.74348	0.983	D	0.91555	0.5260	10	0.72032	D	0.01	.	2.7863	0.05375	0.1003:0.147:0.5279:0.2248	.	674	Q8TE23	TS1R2_HUMAN	C	674	ENSP00000364520:R674C	ENSP00000364520:R674C	R	-	1	0	TAS1R2	19039180	0.465000	0.25815	0.881000	0.34555	0.789000	0.44602	0.830000	0.27462	1.242000	0.43836	0.561000	0.74099	CGC		0.572	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
GRHL3	57822	broad.mit.edu	37	1	24657929	24657929	+	Missense_Mutation	SNP	C	C	T	rs202164828		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:24657929C>T	ENST00000350501.5	+	2	158	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	GRHL3_ENST00000236255.4_Missense_Mutation_p.R16W|GRHL3_ENST00000356046.2_5'UTR|GRHL3_ENST00000361548.4_Missense_Mutation_p.R11W|GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000530984.1_3'UTR	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	11					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAGGTCTGTGCGGCTGCTAAA	0.512																																						uc021oiw.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(31-33)Cgg>Tgg		Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.							92.0	93.0	92.0					1																	24657929		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24657929C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.31C>T	1.37:g.24657929C>T	ENSP00000288955:p.Arg11Trp					GRHL3_uc001bix.3_Missense_Mutation_p.R11W|GRHL3_uc021oix.1_5'UTR|GRHL3_uc001biy.3_Missense_Mutation_p.R16W|GRHL3_uc001biz.3_Intron	p.R11W	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	1	261	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	11					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.31C>T	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648918	0.67358	.	.	ENSG00000158055	ENST00000361548;ENST00000350501;ENST00000236255	T;T;T	0.51071	0.72;0.72;0.72	5.92	2.89	0.33648	.	0.207524	0.31884	N	0.006917	T	0.48804	0.1520	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.978	P;B	0.50708	0.648;0.436	T	0.45775	-0.9238	10	0.49607	T	0.09	-26.437	13.9846	0.64326	0.5259:0.4741:0.0:0.0	.	16;11	Q8TE85-2;G3XAF0	.;.	W	11;11;16	ENSP00000354943:R11W;ENSP00000288955:R11W;ENSP00000236255:R16W	ENSP00000236255:R16W	R	+	1	2	GRHL3	24530516	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	0.716000	0.25836	0.331000	0.23511	0.650000	0.86243	CGG		0.512	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180	
KPRP	448834	broad.mit.edu	37	1	152732729	152732729	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:152732729G>A	ENST00000606109.1	+	1	693	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	KPRP_ENST00000368773.1_Missense_Mutation_p.R222Q			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	222						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCAGTATCGGTCCCGGACT	0.582																																						uc001fal.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(664-666)cGg>cAg		Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.							123.0	124.0	124.0					1																	152732729		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732729G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.665G>A	1.37:g.152732729G>A	ENSP00000475216:p.Arg222Gln					KPRP_uc021ozf.1_Missense_Mutation_p.R222Q	p.R222Q	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	723	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		222						Missense_Mutation	SNP	ENST00000606109.1	37	c.665G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	3.168	-0.170709	0.06421	.	.	ENSG00000203786	ENST00000368773	T	0.11385	2.78	4.55	-5.27	0.02763	.	0.659450	0.13458	N	0.386343	T	0.00815	0.0027	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	10	0.26408	T	0.33	-0.0013	1.0904	0.01662	0.4053:0.1534:0.2923:0.1491	.	222	Q5T749	KPRP_HUMAN	Q	222	ENSP00000357762:R222Q	ENSP00000357762:R222Q	R	+	2	0	KPRP	150999353	0.018000	0.18449	0.122000	0.21767	0.061000	0.15899	0.209000	0.17435	-0.854000	0.04131	-0.436000	0.05848	CGG		0.582	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
OR2L8	391190	broad.mit.edu	37	1	248112496	248112496	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:248112496C>A	ENST00000357191.3	+	1	337	c.337C>A	c.(337-339)Ctt>Att	p.L113I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAAGCACTACTTTTGGCATC	0.443																																						uc001idt.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(337-339)Ctt>Att		Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.							300.0	247.0	265.0					1																	248112496		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112496C>A	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.337C>A	1.37:g.248112496C>A	ENSP00000349719:p.Leu113Ile					OR2L13_uc001ids.3_Intron	p.L113I	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		0	337	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		113					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.337C>A	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	6.333	0.429515	0.11987	.	.	ENSG00000196936	ENST00000357191	T	0.00585	6.39	1.64	0.389	0.16269	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29286	U	0.012584	T	0.00784	0.0026	M	0.71581	2.175	0.09310	N	1	B	0.24675	0.109	B	0.26614	0.071	T	0.42292	-0.9460	10	0.66056	D	0.02	.	6.3399	0.21316	0.194:0.6133:0.1926:0.0	.	113	Q8NGY9	OR2L8_HUMAN	I	113	ENSP00000349719:L113I	ENSP00000349719:L113I	L	+	1	0	OR2L8	246179119	0.000000	0.05858	0.030000	0.17652	0.019000	0.09904	-0.812000	0.04496	0.905000	0.36596	0.479000	0.44913	CTT		0.443	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2		
SMC3	9126	broad.mit.edu	37	10	112328741	112328741	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:112328741G>C	ENST00000361804.4	+	2	187	c.61G>C	c.(61-63)Gat>Cat	p.D21H	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	21					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AACAATTGTAGATCCCTTCAG	0.308																																						uc001kze.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(61-63)Gat>Cat		Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.							184.0	182.0	183.0					10																	112328741		2203	4298	6501	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112328741G>C	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.61G>C	10.37:g.112328741G>C	ENSP00000354720:p.Asp21His						p.D21H	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	1	187	+		Breast(234;0.0848)|Lung NSC(174;0.238)	21					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.61G>C	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.721833	0.89298	.	.	ENSG00000108055	ENST00000361804	D	0.91577	-2.87	5.53	5.53	0.82687	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.92485	0.7614	L	0.51422	1.61	0.80722	D	1	D	0.63880	0.993	P	0.55055	0.767	D	0.93147	0.6546	10	0.87932	D	0	.	18.4595	0.90734	0.0:0.0:1.0:0.0	.	21	Q9UQE7	SMC3_HUMAN	H	21	ENSP00000354720:D21H	ENSP00000354720:D21H	D	+	1	0	SMC3	112318731	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.932000	0.92897	2.587000	0.87381	0.563000	0.77884	GAT		0.308	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445	
SMC3	9126	broad.mit.edu	37	10	112341821	112341821	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:112341821C>G	ENST00000361804.4	+	9	814	c.688C>G	c.(688-690)Cag>Gag	p.Q230E		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	230					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CATTTACAATCAGGAACTTAA	0.343																																						uc001kze.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(688-690)Cag>Gag		Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.							126.0	132.0	130.0					10																	112341821		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112341821C>G	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.688C>G	10.37:g.112341821C>G	ENSP00000354720:p.Gln230Glu						p.Q230E	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	8	814	+		Breast(234;0.0848)|Lung NSC(174;0.238)	230					A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.688C>G	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561501	0.65538	.	.	ENSG00000108055	ENST00000361804	T	0.75260	-0.92	5.4	5.4	0.78164	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	L	0.46157	1.445	0.80722	D	1	B	0.28971	0.229	B	0.28305	0.088	T	0.64512	-0.6390	10	0.09338	T	0.73	.	19.1693	0.93570	0.0:1.0:0.0:0.0	.	230	Q9UQE7	SMC3_HUMAN	E	230	ENSP00000354720:Q230E	ENSP00000354720:Q230E	Q	+	1	0	SMC3	112331811	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.430000	0.80321	2.523000	0.85059	0.591000	0.81541	CAG		0.343	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445	
NHLRC2	374354	broad.mit.edu	37	10	115668096	115668096	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:115668096G>A	ENST00000369301.3	+	11	2194	c.1982G>A	c.(1981-1983)aGt>aAt	p.S661N		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	661										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AACATTTCCAGTCAACCAACA	0.348																																						uc001lax.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1981-1983)aGt>aAt		Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.							136.0	123.0	127.0					10																	115668096		2203	4300	6503	SO:0001583	missense	374354				cell redox homeostasis			g.chr10:115668096G>A	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1982G>A	10.37:g.115668096G>A	ENSP00000358307:p.Ser661Asn					NHLRC2_uc001lay.2_Non-coding_Transcript	p.S661N	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	10	2223	+			661					Q8N1H1|Q8N5A6	Missense_Mutation	SNP	ENST00000369301.3	37	c.1982G>A	CCDS7585.1	.	.	.	.	.	.	.	.	.	.	G	1.535	-0.543433	0.04053	.	.	ENSG00000196865	ENST00000369301	T	0.42513	0.97	5.77	-8.17	0.01057	.	1.003600	0.08018	N	0.991564	T	0.13756	0.0333	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39800	-0.9596	10	0.16420	T	0.52	-6.1844	11.2993	0.49295	0.2949:0.191:0.5141:0.0	.	661	Q8NBF2	NHLC2_HUMAN	N	661	ENSP00000358307:S661N	ENSP00000358307:S661N	S	+	2	0	NHLRC2	115658086	0.000000	0.05858	0.033000	0.17914	0.244000	0.25665	-1.013000	0.03645	-1.168000	0.02776	-0.290000	0.09829	AGT		0.348	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514	
DAGLA	747	broad.mit.edu	37	11	61490356	61490356	+	Silent	SNP	C	C	T	rs374808753		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:61490356C>T	ENST00000257215.5	+	4	449	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	111					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AGTTCATCTACGCCATCGTGG	0.607																																						uc001nsa.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(331-333)taC>taT		Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.		C		1,4403	2.1+/-5.4	0,1,2201	248.0	163.0	192.0		333	-6.6	0.7	11		192	0,8598		0,0,4299	no	coding-synonymous	DAGLA	NM_006133.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		111/1043	61490356	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61490356C>T	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.333C>T	11.37:g.61490356C>T							p.Y111Y	NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	3	449	+			111					A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	c.333C>T	CCDS31578.1																																																																																				0.607	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133	
CPT1A	1374	broad.mit.edu	37	11	68579934	68579934	+	Silent	SNP	A	A	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:68579934A>G	ENST00000265641.5	-	3	406	c.252T>C	c.(250-252)atT>atC	p.I84I	CPT1A_ENST00000540367.1_Silent_p.I84I|CPT1A_ENST00000539743.1_Silent_p.I84I|CPT1A_ENST00000376618.2_Silent_p.I84I	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	84					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TGATTTTTGCAATTATTCCTA	0.473																																						uc001oog.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(250-252)atT>atC		Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Carnitine(DB00583)|Perhexiline(DB01074)						173.0	157.0	163.0					11																	68579934		2200	4294	6494	SO:0001819	synonymous_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68579934A>G	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.252T>C	11.37:g.68579934A>G						CPT1A_uc001oof.4_Silent_p.I84I	p.I84I	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		2	422	-	Esophageal squamous(3;3.28e-14)		84					Q8TCU0|Q9BWK0	Silent	SNP	ENST00000265641.5	37	c.252T>C	CCDS8185.1																																																																																				0.473	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876	
P2RY2	5029	broad.mit.edu	37	11	72945705	72945705	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:72945705C>T	ENST00000311131.2	+	3	968	c.501C>T	c.(499-501)ccC>ccT	p.P167P	P2RY2_ENST00000393596.2_Silent_p.P167P|P2RY2_ENST00000393597.2_Silent_p.P167P	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	167					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCAGGCCCCCGTGCTCTACT	0.721																																						uc021qna.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(499-501)ccC>ccT		Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	Suramin(DB04786)						22.0	25.0	24.0					11																	72945705		2197	4285	6482	SO:0001819	synonymous_variant	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945705C>T	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.501C>T	11.37:g.72945705C>T						P2RY2_uc001otk.3_Silent_p.P167P|P2RY2_uc001otj.3_Silent_p.P167P|P2RY2_uc001otl.3_Silent_p.P167P	p.P167P	NM_176072	NP_788086	P41231	P2RY2_HUMAN			0	501	+			167					B2R9W3|Q96EM8	Silent	SNP	ENST00000311131.2	37	c.501C>T	CCDS8219.1																																																																																				0.721	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072	
ST14	6768	broad.mit.edu	37	11	130069961	130069961	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:130069961C>T	ENST00000278742.5	+	16	2341	c.1923C>T	c.(1921-1923)tgC>tgT	p.C641C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	641	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCCACATCTGCGGTGCTTCCC	0.627																																						uc001qfw.3																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32						c.(1921-1923)tgC>tgT		Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	Urokinase(DB00013)						70.0	59.0	62.0					11																	130069961		2201	4297	6498	SO:0001819	synonymous_variant	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130069961C>T	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1923C>T	11.37:g.130069961C>T							p.C641C	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	15	2116	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	641			Peptidase S1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	ENST00000278742.5	37	c.1923C>T	CCDS8487.1																																																																																				0.627	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1		
SLC38A2	54407	broad.mit.edu	37	12	46757576	46757576	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:46757576C>T	ENST00000256689.5	-	12	1431	c.987G>A	c.(985-987)aaG>aaA	p.K329K	SLC38A2_ENST00000547252.1_5'Flank|SLC38A2_ENST00000551374.1_Silent_p.K167K	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	329					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAAATGAAATCTTGGACACAT	0.353																																					Ovarian(9;448 492 8335 28722 40361)	uc001rpg.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(985-987)aaG>aaA		Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA.							112.0	110.0	110.0					12																	46757576		2202	4299	6501	SO:0001819	synonymous_variant	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46757576C>T	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.987G>A	12.37:g.46757576C>T						SLC38A2_uc010sli.2_Silent_p.K167K|SLC38A2_uc001rph.3_Silent_p.K229K	p.K329K	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	11	1427	-	Lung SC(27;0.192)|Renal(347;0.236)		329					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	ENST00000256689.5	37	c.987G>A	CCDS8749.1																																																																																				0.353	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1		
BAZ2A	11176	broad.mit.edu	37	12	57005685	57005685	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:57005685G>A	ENST00000551812.1	-	6	1680	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F	BAZ2A_ENST00000179765.5_Missense_Mutation_p.S464F|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S494F|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S466F	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	496					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGTTACGGGAGAGGCTTTTGG	0.542																																						uc001slq.1																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(1486-1488)tCt>tTt		Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.							48.0	51.0	50.0					12																	57005685		1942	4162	6104	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57005685G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1487C>T	12.37:g.57005685G>A	ENSP00000446880:p.Ser496Phe					BAZ2A_uc001slp.1_Missense_Mutation_p.S494F|BAZ2A_uc009zow.1_Missense_Mutation_p.S464F	p.S496F	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			5	1681	-			496					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.1487C>T	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.60|15.60	2.881290|2.881290	0.51801|0.51801	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000551996|ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	.|T;T;T;T	.|0.68025	.|-0.29;-0.29;-0.3;-0.3	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	.|0.390767	.|0.25964	.|N	.|0.027164	T|T	0.69797|0.69797	0.3151|0.3151	N|N	0.14661|0.14661	0.345|0.345	0.41576|0.41576	D|D	0.988711|0.988711	.|D;D	.|0.76494	.|0.999;0.998	.|D;D	.|0.85130	.|0.997;0.994	T|T	0.75625|0.75625	-0.3253|-0.3253	5|10	.|0.87932	.|D	.|0	.|.	16.5201|16.5201	0.84311|0.84311	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|494;496	.|F8VU39;Q9UIF9	.|.;BAZ2A_HUMAN	F|F	144|466;464;496;494	.|ENSP00000368754:S466F;ENSP00000179765:S464F;ENSP00000446880:S496F;ENSP00000447941:S494F	.|ENSP00000179765:S464F	L|S	-|-	1|2	0|0	BAZ2A|BAZ2A	55291952|55291952	0.989000|0.989000	0.36119|0.36119	0.985000|0.985000	0.45067|0.45067	0.748000|0.748000	0.42578|0.42578	1.536000|1.536000	0.36072|0.36072	2.687000|2.687000	0.91594|0.91594	0.462000|0.462000	0.41574|0.41574	CTC|TCT		0.542	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
ALDH1L2	160428	broad.mit.edu	37	12	105455479	105455479	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:105455479G>T	ENST00000258494.9	-	8	1113	c.973C>A	c.(973-975)Cag>Aag	p.Q325K	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.Q325K	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	325					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GAAAAGTACTGAGAGGCAGGG	0.408																																						uc001tlc.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						c.(973-975)Cag>Aag		Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							156.0	144.0	148.0					12																	105455479		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105455479G>T	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.973C>A	12.37:g.105455479G>T	ENSP00000258494:p.Gln325Lys					ALDH1L2_uc009zuo.3_5'UTR|ALDH1L2_uc009zup.3_Non-coding_Transcript	p.Q325K	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			7	1100	-			325					Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.973C>A	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	G	9.594	1.126855	0.20959	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.41400	1.0;1.0	5.9	4.94	0.65067	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.047139	0.85682	D	0.000000	T	0.16342	0.0393	N	0.02876	-0.465	0.43890	D	0.99651	B	0.02656	0.0	B	0.06405	0.002	T	0.16364	-1.0405	10	0.02654	T	1	.	11.4855	0.50350	0.0:0.0:0.6315:0.3685	.	325	Q3SY69	AL1L2_HUMAN	K	325	ENSP00000258494:Q325K;ENSP00000389608:Q325K	ENSP00000258494:Q325K	Q	-	1	0	ALDH1L2	103979609	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.132000	0.50523	2.788000	0.95919	0.650000	0.86243	CAG		0.408	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	
TRPV4	59341	broad.mit.edu	37	12	110230485	110230485	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:110230485G>A	ENST00000418703.2	-	10	1890	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	TRPV4_ENST00000541794.1_Missense_Mutation_p.T552M|TRPV4_ENST00000261740.2_Missense_Mutation_p.T599M|TRPV4_ENST00000392719.2_Missense_Mutation_p.T552M|TRPV4_ENST00000536838.1_Missense_Mutation_p.T565M|TRPV4_ENST00000346520.2_Missense_Mutation_p.T539M|TRPV4_ENST00000544971.1_Missense_Mutation_p.T492M|TRPV4_ENST00000537083.1_Missense_Mutation_p.T539M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	599					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ATAGGTCCCCGTCAGCTTCAG	0.582																																						uc001tpj.2																			0		p.T599T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1795-1797)aCg>aTg		Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.							96.0	78.0	84.0					12																	110230485		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230485G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1796C>T	12.37:g.110230485G>A	ENSP00000406191:p.Thr599Met					TRPV4_uc001tpg.2_Missense_Mutation_p.T565M|TRPV4_uc021rdp.1_Missense_Mutation_p.T539M|TRPV4_uc001tph.2_Missense_Mutation_p.T552M|TRPV4_uc001tpi.2_Missense_Mutation_p.T492M|TRPV4_uc001tpk.2_Missense_Mutation_p.T599M	p.T599M	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			9	1891	-			599					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1796C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171789	0.57584	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	6.06	6.06	0.98353	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92093	0.7494	L	0.42632	1.34	0.80722	D	1	D;D;D;P;P	0.89917	1.0;1.0;1.0;0.922;0.922	D;D;D;P;P	0.97110	0.998;1.0;0.998;0.567;0.688	D	0.88188	0.2875	10	0.17832	T	0.49	-7.2362	19.6125	0.95613	0.0:0.0:1.0:0.0	.	539;599;492;552;565	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	M	599;599;552;539;492;539;552;565	ENSP00000406191:T599M;ENSP00000261740:T599M;ENSP00000376480:T552M;ENSP00000319003:T539M;ENSP00000443611:T492M;ENSP00000442738:T539M;ENSP00000442167:T552M;ENSP00000444336:T565M	ENSP00000261740:T599M	T	-	2	0	TRPV4	108714868	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.062000	0.89475	2.879000	0.98667	0.650000	0.86243	ACG		0.582	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
DNAH10	196385	broad.mit.edu	37	12	124330629	124330629	+	Silent	SNP	C	C	T	rs372145244		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:124330629C>T	ENST00000409039.3	+	31	5413	c.5388C>T	c.(5386-5388)taC>taT	p.Y1796Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1796	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTACGGCTACGAGTACATGG	0.587																																						uc001uft.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5386-5388)taC>taT		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.		C		1,4011		0,1,2005	70.0	74.0	72.0		5388	-3.4	0.9	12		72	0,8326		0,0,4163	no	coding-synonymous	DNAH10	NM_207437.3		0,1,6168	TT,TC,CC		0.0,0.0249,0.0081		1796/4472	124330629	1,12337	2006	4163	6169	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124330629C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5388C>T	12.37:g.124330629C>T							p.Y1796Y	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	30	5413	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1796			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.5388C>T	CCDS9255.2																																																																																				0.587	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
NYNRIN	57523	broad.mit.edu	37	14	24878300	24878300	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr14:24878300C>A	ENST00000382554.3	+	4	1618	c.1300C>A	c.(1300-1302)Cca>Aca	p.P434T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	434					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCTGGTAGACCAGATGGGGG	0.552																																						uc001wpf.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1300-1302)Cca>Aca		Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.							17.0	19.0	18.0					14																	24878300		1842	4092	5934	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878300C>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1300C>A	14.37:g.24878300C>A	ENSP00000371994:p.Pro434Thr						p.P434T	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			3	1618	+			434					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.1300C>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	3.994	-0.003808	0.07773	.	.	ENSG00000205978	ENST00000382554	T	0.35421	1.31	5.0	4.12	0.48240	.	0.807242	0.10122	N	0.713283	T	0.28366	0.0701	L	0.27053	0.805	0.09310	N	1	B	0.33826	0.427	B	0.34722	0.188	T	0.22977	-1.0201	10	0.87932	D	0	.	9.0661	0.36465	0.0:0.902:0.0:0.098	.	434	Q9P2P1	NYNRI_HUMAN	T	434	ENSP00000371994:P434T	ENSP00000371994:P434T	P	+	1	0	NYNRIN	23948140	0.292000	0.24362	0.006000	0.13384	0.025000	0.11179	1.894000	0.39768	1.333000	0.45449	0.655000	0.94253	CCA		0.552	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
PLEK2	26499	broad.mit.edu	37	14	67864439	67864439	+	Silent	SNP	G	G	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr14:67864439G>T	ENST00000216446.4	-	2	287	c.147C>A	c.(145-147)ggC>ggA	p.G49G	PLEK2_ENST00000557388.1_5'Flank	NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	49	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GGAGGATCCGGCCCTTGGGAG	0.592																																						uc001xjh.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15						c.(145-147)ggC>ggA		Homo sapiens pleckstrin 2 (PLEK2), mRNA.							53.0	45.0	48.0					14																	67864439		2203	4300	6503	SO:0001819	synonymous_variant	26499				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		g.chr14:67864439G>T	AF228603	CCDS9782.1	14q23.3	2014-08-12			ENSG00000100558	ENSG00000100558		"""Pleckstrin homology (PH) domain containing"""	19238	protein-coding gene	gene with protein product		608007				11911883, 17658464	Standard	NM_016445		Approved		uc001xjh.1	Q9NYT0	OTTHUMG00000171247	ENST00000216446.4:c.147C>A	14.37:g.67864439G>T							p.G49G	NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN		all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	1	199	-			49			PH 1.		Q96JT0	Silent	SNP	ENST00000216446.4	37	c.147C>A	CCDS9782.1																																																																																				0.592	PLEK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412547.2		
PEAK1	79834	broad.mit.edu	37	15	77473255	77473255	+	Silent	SNP	T	T	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:77473255T>C	ENST00000560626.2	-	4	1489	c.1014A>G	c.(1012-1014)tcA>tcG	p.S338S	PEAK1_ENST00000312493.4_Silent_p.S338S|PEAK1_ENST00000558305.1_Silent_p.S338S			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	338	Ser-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGGAGTCAGATGACACCATGC	0.423																																						uc021sqy.1																			0											c.(1012-1014)tcA>tcG		Homo sapiens NKF3 kinase family member (PEAK1), mRNA.							73.0	65.0	68.0					15																	77473255		1927	4130	6057	SO:0001819	synonymous_variant	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473255T>C		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1014A>G	15.37:g.77473255T>C						PEAK1_uc002bcn.2_Silent_p.S338S|PEAK1_uc021sqz.1_5'Flank	p.S338S	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN			4	1590	-			338			Ser-rich.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	c.1014A>G	CCDS42062.1																																																																																				0.423	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3		
CHRNB4	1143	broad.mit.edu	37	15	78921872	78921872	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:78921872C>T	ENST00000261751.3	-	5	886	c.775G>A	c.(775-777)Gac>Aac	p.D259N	CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	259					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	TCGCCGCAGTCGGATGGCAGG	0.557																																						uc002bed.1																			0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(775-777)Gac>Aac		Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.							260.0	203.0	223.0					15																	78921872		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78921872C>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.775G>A	15.37:g.78921872C>T	ENSP00000261751:p.Asp259Asn					CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.D77N	p.D259N	NM_000750	NP_000741	P30926	ACHB4_HUMAN			4	887	-			259					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.775G>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874333	0.72180	.	.	ENSG00000117971	ENST00000261751	T	0.74209	-0.82	5.57	3.71	0.42584	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.101004	0.64402	N	0.000003	D	0.83013	0.5162	M	0.89095	3.005	0.80722	D	1	P	0.42584	0.784	P	0.49853	0.624	D	0.84623	0.0685	10	0.72032	D	0.01	.	12.2712	0.54708	0.0:0.8622:0.0:0.1378	.	259	P30926	ACHB4_HUMAN	N	259	ENSP00000261751:D259N	ENSP00000261751:D259N	D	-	1	0	CHRNB4	76708927	0.999000	0.42202	0.998000	0.56505	0.759000	0.43091	4.071000	0.57556	0.745000	0.32763	-0.119000	0.15052	GAC		0.557	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1		
RASGRF1	5923	broad.mit.edu	37	15	79292172	79292172	+	Missense_Mutation	SNP	C	C	T	rs199661393		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:79292172C>T	ENST00000419573.3	-	18	2981	c.2707G>A	c.(2707-2709)Gcc>Acc	p.A903T	RASGRF1_ENST00000394745.3_Missense_Mutation_p.A119T|RASGRF1_ENST00000558480.2_Missense_Mutation_p.A887T|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	903					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A903T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGGCAGAGGCGGCCGACAAG	0.562																																						uc002beq.3																			1	Substitution - Missense(1)	p.A903T(2)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2707-2709)Gcc>Acc		Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA,THR/ALA	0,4392		0,0,2196	140.0	114.0	123.0		2659,2707,355	2.4	0.3	15		123	2,8584	2.2+/-6.3	0,2,4291	yes	missense,missense,missense	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	58,58,58	0,2,6487	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	887/1258,903/1274,119/490	79292172	2,12976	2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79292172C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2707G>A	15.37:g.79292172C>T	ENSP00000405963:p.Ala903Thr					RASGRF1_uc002bep.3_Missense_Mutation_p.A887T|RASGRF1_uc010blm.1_Missense_Mutation_p.A812T|RASGRF1_uc002ber.4_Missense_Mutation_p.A887T|RASGRF1_uc010unh.1_Missense_Mutation_p.A298T|RASGRF1_uc002beo.3_Missense_Mutation_p.A119T	p.A903T	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			17	3082	-			905					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2707G>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535203	0.45176	0.0	2.33E-4	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.64260	-0.09;-0.09	4.34	2.42	0.29668	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42921	0.1224	L	0.35414	1.06	0.49798	D	0.999822	B;B;B;B	0.31655	0.023;0.225;0.095;0.334	B;B;B;B	0.21708	0.01;0.026;0.016;0.036	T	0.15838	-1.0423	10	0.26408	T	0.33	.	7.9873	0.30220	0.0:0.8104:0.0:0.1896	.	299;887;905;887	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	T	903;887;119	ENSP00000405963:A903T;ENSP00000378228:A119T	ENSP00000378224:A887T	A	-	1	0	RASGRF1	77079227	0.841000	0.29509	0.344000	0.25628	0.822000	0.46500	1.597000	0.36729	0.442000	0.26555	0.591000	0.81541	GCC		0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
NTRK3	4916	broad.mit.edu	37	15	88576210	88576210	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:88576210A>G	ENST00000360948.2	-	13	1624	c.1463T>C	c.(1462-1464)aTc>aCc	p.I488T	NTRK3_ENST00000357724.2_Missense_Mutation_p.I480T|NTRK3_ENST00000558676.1_Missense_Mutation_p.I480T|NTRK3_ENST00000542733.2_Missense_Mutation_p.I390T|NTRK3_ENST00000317501.3_Missense_Mutation_p.I488T|NTRK3_ENST00000355254.2_Missense_Mutation_p.I488T|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000394480.2_Missense_Mutation_p.I488T|NTRK3_ENST00000557856.1_Missense_Mutation_p.I480T|NTRK3_ENST00000540489.2_Missense_Mutation_p.I488T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	488					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I488T(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGCGTGGTGATGCCGTGGTT	0.607			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.2				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		"""congenital fibrosarcoma, Secretory breast """	ETV6/NTRK3(238)	1	Substitution - Missense(1)	p.I488T(2)|p.I488I(1)	central_nervous_system(1)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119						c.(1462-1464)aTc>aCc		Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.							101.0	63.0	76.0					15																	88576210		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88576210A>G	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1463T>C	15.37:g.88576210A>G	ENSP00000354207:p.Ile488Thr	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.I480T|NTRK3_uc002bmf.2_Missense_Mutation_p.I488T|NTRK3_uc021sua.1_Missense_Mutation_p.I480T|NTRK3_uc010upl.1_Missense_Mutation_p.I390T|NTRK3_uc010bnh.1_Missense_Mutation_p.I480T|NTRK3_uc002bmg.3_Missense_Mutation_p.I488T|NTRK3_uc010bni.2_Non-coding_Transcript	p.I488T	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		13	1769	-			488					B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1463T>C	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	A	3.733	-0.055113	0.07362	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.73152	-0.72;-0.68;-0.68;-0.72;-0.6;0.15;0.15	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.47432	0.1445	N	0.11427	0.14	0.58432	D	0.999999	B;B;B;B;B;B	0.17852	0.002;0.006;0.0;0.024;0.005;0.0	B;B;B;B;B;B	0.14578	0.002;0.005;0.002;0.007;0.011;0.002	T	0.46938	-0.9155	10	0.02654	T	1	.	13.9137	0.63883	1.0:0.0:0.0:0.0	.	390;480;480;488;488;488	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	T	488;488;480;488;390;488;488	ENSP00000377990:I488T;ENSP00000354207:I488T;ENSP00000350356:I480T;ENSP00000347397:I488T;ENSP00000437773:I390T;ENSP00000444673:I488T;ENSP00000318328:I488T	ENSP00000318328:I488T	I	-	2	0	NTRK3	86377214	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.793000	0.69060	2.061000	0.61500	0.528000	0.53228	ATC		0.607	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
SEPT12	124404	broad.mit.edu	37	16	4834042	4834042	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr16:4834042G>A	ENST00000268231.8	-	5	665	c.402C>T	c.(400-402)aaC>aaT	p.N134N	SEPT12_ENST00000396693.5_Intron|SEPT12_ENST00000591861.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	134	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CGTATTGCTCGTTGATGTAGC	0.627																																						uc002cxq.3																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(400-402)aaC>aaT		Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.							181.0	158.0	166.0					16																	4834042		2197	4300	6497	SO:0001819	synonymous_variant	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4834042G>A	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.402C>T	16.37:g.4834042G>A						SEPT12_uc002cxr.3_Intron|SEPT12_uc010bty.3_Non-coding_Transcript	p.N134N	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN			4	666	-			134					Q0P6B0|Q1PBH0|Q96LL0	Silent	SNP	ENST00000268231.8	37	c.402C>T	CCDS10522.1																																																																																				0.627	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605	
IQCK	124152	broad.mit.edu	37	16	19729642	19729642	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr16:19729642G>C	ENST00000320394.6	+	2	713	c.14G>C	c.(13-15)cGg>cCg	p.R5P	KNOP1_ENST00000219837.7_5'Flank|IQCK_ENST00000541926.1_Missense_Mutation_p.R5P|AC002550.5_ENST00000565916.1_RNA|IQCK_ENST00000564186.1_Missense_Mutation_p.R5P|IQCK_ENST00000433597.2_5'UTR	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K	5										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GCGGCACCGCGGCAAATCCCC	0.692																																						uc002dgr.3																			0				kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(13-15)cGg>cCg		Homo sapiens IQ motif containing K (IQCK), mRNA.							37.0	29.0	32.0					16																	19729642		2192	4292	6484	SO:0001583	missense	124152							g.chr16:19729642G>C	AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.14G>C	16.37:g.19729642G>C	ENSP00000324901:p.Arg5Pro					IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.R5P|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_5'UTR|C16orf88_uc002dgq.3_5'Flank	p.R5P	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN			1	713	+			5					B2RDU0|O43327|Q8NFF4	Missense_Mutation	SNP	ENST00000320394.6	37	c.14G>C	CCDS10580.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750527	0.69533	.	.	ENSG00000174628	ENST00000320394;ENST00000308214;ENST00000541926	T	0.56103	0.48	4.13	-7.67	0.01272	.	4.565730	0.00541	N	0.000225	T	0.38241	0.1033	L	0.43152	1.355	0.20196	N	0.999924	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.11470	-1.0586	9	.	.	.	3.4571	5.2648	0.15593	0.165:0.5359:0.1943:0.1048	.	5;5	B4DXE1;Q8N0W5	.;IQCK_HUMAN	P	5	ENSP00000324901:R5P	.	R	+	2	0	IQCK	19637143	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.770000	0.04705	-1.345000	0.02214	-0.311000	0.09066	CGG		0.692	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254273.2	NM_153208	
ODF4	146852	broad.mit.edu	37	17	8243550	8243550	+	Missense_Mutation	SNP	C	C	T	rs147153349		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr17:8243550C>T	ENST00000328248.2	+	1	369	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	RP11-849F2.4_ENST00000585275.1_lincRNA|ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	61					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|outer dense fiber (GO:0001520)		p.R61S(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTGGGCCAGCGCCAGAACTC	0.592																																						uc002gle.1																			1	Substitution - Missense(1)	p.R61S(2)	lung(1)	endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						c.(181-183)Cgc>Tgc		Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	76.0	79.0		181	1.3	0.0	17	dbSNP_134	79	0,8600		0,0,4300	no	missense	ODF4	NM_153007.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	61/258	8243550	1,13005	2203	4300	6503	SO:0001583	missense	146852				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr17:8243550C>T	AB081120	CCDS11140.1	17p13	2010-09-27			ENSG00000184650	ENSG00000184650			19056	protein-coding gene	gene with protein product	"""cancer/testis antigen 136"""	610097					Standard	NM_153007		Approved	OPPO1, CT136	uc002gle.1	Q2M2E3	OTTHUMG00000108190	ENST00000328248.2:c.181C>T	17.37:g.8243550C>T	ENSP00000331086:p.Arg61Cys						p.R61C	NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN			0	363	+			61					Q8J021	Missense_Mutation	SNP	ENST00000328248.2	37	c.181C>T	CCDS11140.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873941	0.51695	2.27E-4	0.0	ENSG00000184650	ENST00000328248	T	0.29397	1.57	4.34	1.26	0.21427	.	0.790513	0.11133	N	0.596122	T	0.19327	0.0464	L	0.48642	1.525	0.09310	N	1	P	0.41546	0.754	B	0.25759	0.063	T	0.16778	-1.0391	10	0.87932	D	0	-3.2119	6.0197	0.19623	0.0:0.6743:0.0:0.3257	.	61	Q2M2E3	ODFP4_HUMAN	C	61	ENSP00000331086:R61C	ENSP00000331086:R61C	R	+	1	0	ODF4	8184275	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.276000	0.18716	0.581000	0.29539	0.655000	0.94253	CGC		0.592	ODF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226996.1		
RHBDL3	162494	broad.mit.edu	37	17	30632431	30632431	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr17:30632431G>A	ENST00000269051.4	+	7	867	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	RHBDL3_ENST00000538145.1_Missense_Mutation_p.V277I|RHBDL3_ENST00000536287.1_Missense_Mutation_p.V187I	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	285						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GTATGCTCTCGTCTCTGCCCA	0.542																																						uc010csx.1																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16								Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.							198.0	158.0	171.0					17																	30632431		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30632431G>A	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.853G>A	17.37:g.30632431G>A	ENSP00000269051:p.Val285Ile					RHBDL3_uc002hhe.1_Missense_Mutation_p.V285I|RHBDL3_uc010csw.1_Missense_Mutation_p.V277I|RHBDL3_uc010csy.1_Missense_Mutation_p.V187I|RHBDL3_uc002hhf.1_Missense_Mutation_p.V187I				P58872	RHBL3_HUMAN					+		Breast(31;0.116)|Ovarian(249;0.182)						A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37		CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838184	0.71373	.	.	ENSG00000141314	ENST00000269051;ENST00000538145;ENST00000536287	T;T;T	0.12465	2.68;2.68;2.68	6.02	5.05	0.67936	Peptidase S54, rhomboid domain (1);	0.057253	0.64402	N	0.000001	T	0.14227	0.0344	N	0.10645	0.015	0.58432	D	0.999995	D;D	0.64830	0.994;0.994	P;P	0.60789	0.84;0.879	T	0.27365	-1.0076	10	0.12766	T	0.61	.	13.5504	0.61728	0.0726:0.0:0.9274:0.0	.	277;285	Q495Y5;P58872	.;RHBL3_HUMAN	I	285;277;187	ENSP00000269051:V285I;ENSP00000442092:V277I;ENSP00000466508:V187I	ENSP00000269051:V285I	V	+	1	0	RHBDL3	27656544	1.000000	0.71417	0.904000	0.35570	0.954000	0.61252	4.657000	0.61490	1.554000	0.49487	0.650000	0.86243	GTC		0.542	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328	
POLRMT	5442	broad.mit.edu	37	19	622950	622950	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:622950C>A	ENST00000588649.2	-	7	1410	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	442					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGTGCTTTCTCCCATTGGT	0.672																																						uc002lpf.1																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20						c.(1324-1326)gaG>gaT		Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.							25.0	27.0	27.0					19																	622950		2203	4300	6503	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:622950C>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1326G>T	19.37:g.622950C>A	ENSP00000465759:p.Glu442Asp						p.E442D	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1382	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	442					O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.1326G>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	13.47	2.248045	0.39697	.	.	ENSG00000099821	ENST00000215591	T	0.41758	0.99	4.01	1.76	0.24704	.	0.435181	0.24801	N	0.035481	T	0.36248	0.0960	M	0.62723	1.935	0.09310	N	0.999997	P	0.37330	0.59	B	0.40982	0.345	T	0.16335	-1.0406	10	0.34782	T	0.22	-21.124	3.2867	0.06934	0.1367:0.5585:0.1336:0.1712	.	442	O00411	RPOM_HUMAN	D	442	ENSP00000215591:E442D	ENSP00000215591:E442D	E	-	3	2	POLRMT	573950	0.000000	0.05858	0.093000	0.20910	0.010000	0.07245	-0.255000	0.08769	0.400000	0.25396	0.556000	0.70494	GAG		0.672	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035	
PODNL1	79883	broad.mit.edu	37	19	14046600	14046600	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:14046600G>A	ENST00000339560.5	-	5	722	c.449C>T	c.(448-450)gCg>gTg	p.A150V	PODNL1_ENST00000538371.2_Missense_Mutation_p.A148V|PODNL1_ENST00000538517.2_Intron|PODNL1_ENST00000254320.3_Missense_Mutation_p.A68V	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	150	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			AGCCAGATCCGCGACACGGAG	0.667																																						uc002mxr.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(448-450)gCg>gTg		Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.							26.0	29.0	28.0					19																	14046600		2203	4300	6503	SO:0001583	missense	79883					proteinaceous extracellular matrix		g.chr19:14046600G>A	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.449C>T	19.37:g.14046600G>A	ENSP00000345175:p.Ala150Val					PODNL1_uc010xni.2_Missense_Mutation_p.A68V|PODNL1_uc010xnj.2_Missense_Mutation_p.A148V|PODNL1_uc002mxs.3_Intron	p.A150V	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		4	723	-			150			Leu-rich.		B7Z564|Q9H5G9	Missense_Mutation	SNP	ENST00000339560.5	37	c.449C>T	CCDS12300.1	.	.	.	.	.	.	.	.	.	.	G	0.147	-1.096072	0.01843	.	.	ENSG00000132000	ENST00000538371;ENST00000339560;ENST00000254320	T;T;T	0.24538	1.95;5.64;1.85	4.97	2.83	0.33086	.	0.272209	0.25836	N	0.027983	T	0.12305	0.0299	N	0.16567	0.415	0.09310	N	1	P;B;P	0.44734	0.842;0.427;0.735	B;B;B	0.35931	0.214;0.065;0.184	T	0.11817	-1.0572	10	0.49607	T	0.09	.	7.0865	0.25259	0.283:0.0:0.717:0.0	.	148;68;150	F5H7F9;B7Z3M0;Q6PEZ8	.;.;PONL1_HUMAN	V	148;150;68	ENSP00000442553:A148V;ENSP00000345175:A150V;ENSP00000254320:A68V	ENSP00000254320:A68V	A	-	2	0	PODNL1	13907600	0.024000	0.19004	0.003000	0.11579	0.239000	0.25481	0.535000	0.23114	0.513000	0.28278	-0.354000	0.07668	GCG		0.667	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825	
EMR2	30817	broad.mit.edu	37	19	14857101	14857101	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:14857101A>C	ENST00000315576.3	-	18	2577	c.2126T>G	c.(2125-2127)aTt>aGt	p.I709S	EMR2_ENST00000392967.2_Missense_Mutation_p.I698S|EMR2_ENST00000346057.1_Missense_Mutation_p.I660S|EMR2_ENST00000594294.1_Missense_Mutation_p.I660S|EMR2_ENST00000392965.3_Missense_Mutation_p.I651S|EMR2_ENST00000594076.1_Missense_Mutation_p.I616S|EMR2_ENST00000596991.2_Missense_Mutation_p.I698S|EMR2_ENST00000595839.1_Missense_Mutation_p.I567S|EMR2_ENST00000353005.1_Missense_Mutation_p.I567S|EMR2_ENST00000601345.1_Missense_Mutation_p.I698S|EMR2_ENST00000353876.1_Missense_Mutation_p.I616S|EMR2_ENST00000392964.3_3'UTR	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	709					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTTTTTCAAAATCCAGAGAGT	0.388																																						uc002mzp.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						c.(2125-2127)aTt>aGt		Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.							158.0	162.0	161.0					19																	14857101		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14857101A>C	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.2126T>G	19.37:g.14857101A>C	ENSP00000319883:p.Ile709Ser					EMR2_uc010dzs.1_Missense_Mutation_p.I168S|EMR2_uc010xnw.1_Missense_Mutation_p.I651S|EMR2_uc002mzo.1_Missense_Mutation_p.I698S|EMR2_uc002mzq.1_Missense_Mutation_p.I649S|EMR2_uc002mzr.1_Missense_Mutation_p.I660S|EMR2_uc002mzs.1_Missense_Mutation_p.I567S|EMR2_uc002mzt.1_Missense_Mutation_p.I605S|EMR2_uc002mzu.1_Missense_Mutation_p.I616S|EMR2_uc010xnx.1_Non-coding_Transcript	p.I709S	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			17	2582	-			709					B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.2126T>G	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	A	9.917	1.211118	0.22289	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	4.74	3.72	0.42706	GPCR, family 2-like (1);	.	.	.	.	T	0.64427	0.2597	M	0.75777	2.31	0.45129	D	0.998143	D;D;D;D;P;P;D;P	0.76494	0.998;0.991;0.999;0.984;0.593;0.887;0.999;0.593	D;D;D;P;P;P;D;P	0.83275	0.978;0.962;0.996;0.879;0.591;0.854;0.992;0.511	T	0.63967	-0.6517	9	0.62326	D	0.03	.	8.2569	0.31763	0.9032:0.0:0.0968:0.0	.	651;616;709;567;660;709;709;698	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	S	709;698;660;616;567;651	ENSP00000319883:I709S;ENSP00000376694:I698S;ENSP00000263380:I660S;ENSP00000319454:I616S;ENSP00000319838:I567S;ENSP00000376692:I651S	ENSP00000319883:I709S	I	-	2	0	EMR2	14718101	0.725000	0.28048	0.053000	0.19242	0.003000	0.03518	1.541000	0.36126	0.678000	0.31325	0.496000	0.49642	ATT		0.388	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2		
CPAMD8	27151	broad.mit.edu	37	19	17086872	17086872	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:17086872G>A	ENST00000443236.1	-	16	2020	c.1989C>T	c.(1987-1989)gtC>gtT	p.V663V	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	616						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAACTGCGGCGACGCACACAC	0.597																																						uc002nfb.3																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(1987-1989)gtC>gtT		Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.							42.0	48.0	46.0					19																	17086872		2128	4248	6376	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17086872G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1989C>T	19.37:g.17086872G>A							p.V663V	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			15	2021	-			616					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.1989C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.451829	0.01080	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.85	-5.7	0.02421	.	.	.	.	.	T	0.18215	0.0437	.	.	.	0.26739	N	0.970424	.	.	.	.	.	.	T	0.28996	-1.0026	4	.	.	.	.	3.1937	0.06625	0.3794:0.3916:0.1222:0.1068	.	.	.	.	L	674	.	.	S	-	2	0	CPAMD8	16947872	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.212000	0.01225	-0.899000	0.03901	-0.314000	0.08810	TCG		0.597	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	uc002nzg.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)ctgdel		Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_uc010eea.3_In_Frame_Del_p.L62del	p.L62del	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306	
ZFP30	22835	broad.mit.edu	37	19	38126468	38126468	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:38126468G>A	ENST00000351218.2	-	6	1531	c.974C>T	c.(973-975)cCc>cTc	p.P325L	ZFP30_ENST00000392144.1_Missense_Mutation_p.P325L|ZFP30_ENST00000514101.2_Missense_Mutation_p.P325L|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTCATAGGGTTTTTCTCC	0.438																																						uc002ogv.1																			0				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(973-975)cCc>cTc		Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.							85.0	82.0	83.0					19																	38126468		2203	4300	6503	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38126468G>A	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.974C>T	19.37:g.38126468G>A	ENSP00000343581:p.Pro325Leu					ZFP30_uc002ogw.1_Missense_Mutation_p.P325L|ZFP30_uc002ogx.1_Missense_Mutation_p.P325L|ZFP30_uc010xtt.1_Missense_Mutation_p.P324L	p.P325L	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1490	-			325					Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.974C>T	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960071	0.74016	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.17054	2.3;2.3;2.3	3.99	3.99	0.46301	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34652	N	0.003781	T	0.32882	0.0844	L	0.39898	1.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.08932	-1.0698	10	0.66056	D	0.02	.	15.355	0.74421	0.0:0.0:1.0:0.0	.	325;325	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	L	325;325;325;240	ENSP00000343581:P325L;ENSP00000422930:P325L;ENSP00000375988:P325L	ENSP00000343581:P325L	P	-	2	0	ZFP30	42818308	1.000000	0.71417	0.930000	0.37139	0.910000	0.53928	3.508000	0.53378	2.223000	0.72356	0.655000	0.94253	CCC		0.438	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898	
MAP4K1	11184	broad.mit.edu	37	19	39086283	39086283	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:39086283C>T	ENST00000591517.1	-	28	2294	c.2266G>A	c.(2266-2268)Gtg>Atg	p.V756M	MAP4K1_ENST00000396857.2_Missense_Mutation_p.V756M|MAP4K1_ENST00000586296.1_Intron|CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000589130.1_Missense_Mutation_p.V752M	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	756	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACAGACCCACGGCCTCCACC	0.622																																						uc002oix.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44						c.(2266-2268)Gtg>Atg		Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.							53.0	58.0	56.0					19																	39086283		1981	4157	6138	SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39086283C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.2266G>A	19.37:g.39086283C>T	ENSP00000465039:p.Val756Met					MAP4K1_uc002oiy.1_Missense_Mutation_p.V756M	p.V756M	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		27	2374	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		756			CNH.			Missense_Mutation	SNP	ENST00000591517.1	37	c.2266G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837295	0.50951	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.06218	3.33	5.01	3.97	0.46021	Citron-like (3);	0.081761	0.51477	D	0.000088	T	0.20007	0.0481	M	0.65975	2.015	0.42341	D	0.992338	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00444	-1.1735	10	0.87932	D	0	.	9.1368	0.36879	0.0:0.9015:0.0:0.0985	.	756;756	Q92918-2;Q92918	.;M4K1_HUMAN	M	756	ENSP00000380066:V756M	ENSP00000221409:V756M	V	-	1	0	MAP4K1	43778123	0.637000	0.27216	0.974000	0.42286	0.519000	0.34347	1.126000	0.31344	1.343000	0.45638	0.644000	0.83932	GTG		0.622	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	
LILRA1	11024	broad.mit.edu	37	19	55107682	55107682	+	Silent	SNP	G	G	A	rs138767008		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:55107682G>A	ENST00000251372.3	+	7	1169	c.987G>A	c.(985-987)tcG>tcA	p.S329S	LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	329	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTTCATCTCGGTGCATCCGG	0.612																																						uc002qgh.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(985-987)tcG>tcA		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.							58.0	57.0	58.0					19																	55107682		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107682G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.987G>A	19.37:g.55107682G>A						LILRA1_uc010yfg.1_Silent_p.S327S|LILRA1_uc010yfh.2_Silent_p.S329S	p.S329S	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	6	1169	+			329			Ig-like C2-type 4.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.987G>A	CCDS12901.1																																																																																				0.612	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	
NLRP8	126205	broad.mit.edu	37	19	56466478	56466478	+	Missense_Mutation	SNP	G	G	A	rs201462125		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:56466478G>A	ENST00000291971.3	+	3	1125	c.1054G>A	c.(1054-1056)Gta>Ata	p.V352I	NLRP8_ENST00000590542.1_Missense_Mutation_p.V352I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	352	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCCTCTCTCGTAACCCTTCC	0.458													g|||	1	0.000199681	0.0008	0.0	5008	,	,		22369	0.0		0.0	False		,,,				2504	0.0					uc002qmh.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1054-1056)Gta>Ata		Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.		A	ILE/VAL	0,4406		0,0,2203	82.0	82.0	82.0		1054	-2.1	0.0	19		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP8	NM_176811.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	352/1049	56466478	1,13005	2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466478G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1054G>A	19.37:g.56466478G>A	ENSP00000291971:p.Val352Ile					NLRP8_uc010etg.3_Missense_Mutation_p.V352I	p.V352I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	2	1125	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	352			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1054G>A	CCDS12937.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	5.472	0.272103	0.10349	0.0	1.16E-4	ENSG00000179709	ENST00000291971	T	0.79454	-1.27	2.04	-2.06	0.07298	.	.	.	.	.	T	0.43500	0.1250	N	0.02876	-0.465	0.09310	N	1	B;B	0.34313	0.448;0.293	B;B	0.28011	0.062;0.085	T	0.37865	-0.9687	9	0.19590	T	0.45	.	2.7586	0.05300	0.4221:0.2515:0.3263:0.0	.	352;352	Q86W28-2;Q86W28	.;NALP8_HUMAN	I	352	ENSP00000291971:V352I	ENSP00000291971:V352I	V	+	1	0	NLRP8	61158290	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.057000	0.14279	-0.446000	0.07149	-0.279000	0.10071	GTA		0.458	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
EHD3	30845	broad.mit.edu	37	2	31483602	31483602	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:31483602C>T	ENST00000322054.5	+	4	1014	c.729C>T	c.(727-729)atC>atT	p.I243I	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	243	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGGGGAAGATCGTGAACACCC	0.592																																						uc002rnu.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33						c.(727-729)atC>atT		Homo sapiens EH-domain containing 3 (EHD3), mRNA.							104.0	96.0	99.0					2																	31483602		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483602C>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.729C>T	2.37:g.31483602C>T						EHD3_uc010ymt.2_Intron	p.I243I	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			3	1337	+	Acute lymphoblastic leukemia(172;0.155)		243					B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.729C>T	CCDS1774.1																																																																																				0.592	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	
SLC35F5	80255	broad.mit.edu	37	2	114489225	114489225	+	Splice_Site	SNP	G	G	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:114489225G>T	ENST00000245680.2	-	10	1334	c.921C>A	c.(919-921)agC>agA	p.S307R	SLC35F5_ENST00000470204.2_5'Flank	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	307	EamA.				transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CGCCTCCAATGCTATGAGAAT	0.373																																						uc002tku.1																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.e10-1		Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.							104.0	103.0	103.0					2																	114489225		2203	4300	6503	SO:0001630	splice_region_variant	80255				transport	integral to membrane		g.chr2:114489225G>T	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.921-1C>A	2.37:g.114489225G>T						SLC35F5_uc002tkt.3_Splice_Site	p.S307_splice	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN			10	1335	-			307			DUF6.		Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.921_splice	CCDS2119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.46|16.46	3.129946|3.129946	0.56721|0.56721	.|.	.|.	ENSG00000115084|ENSG00000115084	ENST00000447673|ENST00000245680;ENST00000409106	.|T;T	.|0.69685	.|-0.42;-0.42	5.89|5.89	2.83|2.83	0.33086|0.33086	.|Drug/metabolite transporter (1);	.|0.044901	.|0.85682	.|D	.|0.000000	T|T	0.72732|0.72732	0.3497|0.3497	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	.|P	.|0.46457	.|0.878	.|P	.|0.52881	.|0.712	T|T	0.71533|0.71533	-0.4564|-0.4564	5|10	.|0.72032	.|D	.|0.01	.|.	8.4219|8.4219	0.32705|0.32705	0.2655:0.0:0.7345:0.0|0.2655:0.0:0.7345:0.0	.|.	.|307	.|Q8WV83	.|S35F5_HUMAN	N|R	70|307;301	.|ENSP00000245680:S307R;ENSP00000386754:S301R	.|ENSP00000245680:S307R	H|S	-|-	1|3	0|2	SLC35F5|SLC35F5	114205695|114205695	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.983000|0.983000	0.72400|0.72400	1.768000|1.768000	0.38511|0.38511	0.268000|0.268000	0.21939|0.21939	0.655000|0.655000	0.94253|0.94253	CAT|AGC		0.373	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181	Missense_Mutation
GCA	25801	broad.mit.edu	37	2	163204201	163204201	+	Silent	SNP	T	T	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:163204201T>C	ENST00000437150.2	+	2	302	c.141T>C	c.(139-141)taT>taC	p.Y47Y	GCA_ENST00000473240.1_3'UTR|GCA_ENST00000429691.2_Silent_p.Y28Y|GCA_ENST00000233612.4_Silent_p.Y28Y	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	47					membrane fusion (GO:0061025)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CAGACACTTATTCCTCAGCTG	0.443																																						uc002ucg.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						c.(139-141)taT>taC		Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.							94.0	84.0	87.0					2																	163204201		2203	4300	6503	SO:0001819	synonymous_variant	25801				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	g.chr2:163204201T>C	M81637	CCDS2218.1	2q24.2	2013-01-10	2001-11-28		ENSG00000115271	ENSG00000115271		"""EF-hand domain containing"""	15990	protein-coding gene	gene with protein product		607030	"""grancalcin, EF-hand calcium-binding protein"""			1737748, 1530588, 12804766	Standard	NM_012198		Approved	GCL	uc002ucg.3	P28676	OTTHUMG00000132057	ENST00000437150.2:c.141T>C	2.37:g.163204201T>C							p.Y47Y	NM_012198	NP_036330	P28676	GRAN_HUMAN			1	317	+			47					B2R5X3|Q53TB5|Q59EP3	Silent	SNP	ENST00000437150.2	37	c.141T>C	CCDS2218.1																																																																																				0.443	GCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255080.3	NM_012198	
ITGA4	3676	broad.mit.edu	37	2	182374515	182374515	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:182374515A>C	ENST00000397033.2	+	16	2256	c.1826A>C	c.(1825-1827)aAa>aCa	p.K609T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	609					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AAGAAAGAAAAAGACATAATG	0.333																																						uc002unu.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1825-1827)aAa>aCa		Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	Natalizumab(DB00108)						69.0	63.0	65.0					2																	182374515		1810	4068	5878	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182374515A>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1826A>C	2.37:g.182374515A>C	ENSP00000380227:p.Lys609Thr					ITGA4_uc010frj.1_Missense_Mutation_p.K91T	p.K609T	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		15	2589	+			609					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1826A>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.959902	0.53400	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.43294	0.95;0.95	6.02	4.86	0.63082	Integrin alpha-2 (1);	0.362613	0.34555	N	0.003869	T	0.42562	0.1208	L	0.59436	1.845	0.44117	D	0.996899	P;P	0.40970	0.608;0.734	B;B	0.43413	0.305;0.419	T	0.18272	-1.0342	10	0.20046	T	0.44	.	12.1941	0.54288	0.9336:0.0:0.0664:0.0	.	431;609	Q59H74;P13612	.;ITA4_HUMAN	T	609	ENSP00000380227:K609T;ENSP00000233573:K609T	ENSP00000233573:K609T	K	+	2	0	ITGA4	182082760	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.015000	0.57152	1.092000	0.41356	0.528000	0.53228	AAA		0.333	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
COL4A4	1286	broad.mit.edu	37	2	227924195	227924195	+	Missense_Mutation	SNP	G	G	A	rs374356930		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:227924195G>A	ENST00000396625.3	-	28	2516	c.2309C>T	c.(2308-2310)cCg>cTg	p.P770L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P770L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	770	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTCTTTCCCGGGGGTCCCAG	0.612																																						uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(2308-2310)cCg>cTg		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.		G	LEU/PRO	0,3654		0,0,1827	99.0	105.0	103.0		2309	6.0	1.0	2		103	1,8141		0,1,4070	no	missense	COL4A4	NM_000092.4	98	0,1,5897	AA,AG,GG		0.0123,0.0,0.0085	probably-damaging	770/1691	227924195	1,11795	1827	4071	5898	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924195G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2309C>T	2.37:g.227924195G>A	ENSP00000379866:p.Pro770Leu					COL4A4_uc021vxs.1_Missense_Mutation_p.P770L	p.P770L	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	26	2410	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	770			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.2309C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525636	0.64860	0.0	1.23E-4	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93019	-3.15;-3.15	5.99	5.99	0.97316	.	.	.	.	.	D	0.97005	0.9022	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96356	0.9262	9	0.45353	T	0.12	.	18.2507	0.90002	0.0:0.0:1.0:0.0	.	770	P53420	CO4A4_HUMAN	L	770	ENSP00000379866:P770L;ENSP00000328553:P770L	ENSP00000328553:P770L	P	-	2	0	COL4A4	227632439	1.000000	0.71417	0.956000	0.39512	0.193000	0.23685	4.370000	0.59517	2.840000	0.97914	0.655000	0.94253	CCG		0.612	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092	
CASS4	57091	broad.mit.edu	37	20	55027872	55027872	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr20:55027872T>C	ENST00000360314.3	+	6	1865	c.1640T>C	c.(1639-1641)cTt>cCt	p.L547P	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000371336.3_Missense_Mutation_p.L547P	NM_001164116.1	NP_001157588.1	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	547					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGGAAGTTCTTGTGACTGAC	0.493																																						uc002xxp.2																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						c.(1639-1641)cTt>cCt		Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.							93.0	86.0	88.0					20																	55027872		2203	4300	6503	SO:0001583	missense	57091				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	g.chr20:55027872T>C	AJ276678	CCDS33492.1, CCDS54475.1	20q13.31	2011-04-13	2008-04-14	2008-04-15	ENSG00000087589	ENSG00000087589		"""Cas scaffolding proteins"""	15878	protein-coding gene	gene with protein product	"""HEF-like protein"", ""HEF1-Efs-p130Cas-like"""		"""chromosome 20 open reading frame 32"""	C20orf32			Standard	NM_020356		Approved	HEFL, HEPL	uc002xxr.2	Q9NQ75	OTTHUMG00000032788	ENST00000360314.3:c.1640T>C	20.37:g.55027872T>C	ENSP00000353462:p.Leu547Pro					CASS4_uc002xxq.4_Missense_Mutation_p.L547P|CASS4_uc010zze.1_Missense_Mutation_p.L493P|CASS4_uc002xxr.2_Missense_Mutation_p.L547P|CASS4_uc010gio.2_Intron	p.L547P	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN			5	1865	+			547					E1P5Z8|Q5QPD6|Q96K09|Q9BYL5	Missense_Mutation	SNP	ENST00000360314.3	37	c.1640T>C	CCDS33492.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160861	0.78226	.	.	ENSG00000087589	ENST00000360314;ENST00000371336	T;T	0.50001	0.76;0.76	5.87	5.87	0.94306	Serine rich protein interaction (1);	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.84948	2.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77611	-0.2523	10	0.87932	D	0	-23.2814	16.5764	0.84681	0.0:0.0:0.0:1.0	.	493;547;547	B4DII4;Q9NQ75-2;Q9NQ75	.;.;CASS4_HUMAN	P	547	ENSP00000353462:L547P;ENSP00000360387:L547P	ENSP00000353462:L547P	L	+	2	0	CASS4	54461279	1.000000	0.71417	0.157000	0.22605	0.892000	0.51952	7.208000	0.77907	2.371000	0.80710	0.533000	0.62120	CTT		0.493	CASS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079789.2	NM_020356	
TMPRSS15	5651	broad.mit.edu	37	21	19744570	19744570	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr21:19744570A>T	ENST00000284885.3	-	6	637	c.604T>A	c.(604-606)Tta>Ata	p.L202I		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	202	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCACAAAATAAATCAGCTTTT	0.383																																						uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(604-606)Tta>Ata		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							122.0	107.0	112.0					21																	19744570		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19744570A>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.604T>A	21.37:g.19744570A>T	ENSP00000284885:p.Leu202Ile						p.L202I	NM_002772	NP_002763	P98073	ENTK_HUMAN			5	635	-			202			LDL-receptor class A 1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.604T>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310386	0.60414	.	.	ENSG00000154646	ENST00000284885;ENST00000422787	D;D	0.95885	-3.84;-3.84	4.09	2.94	0.34122	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.480207	0.19209	N	0.119992	D	0.94361	0.8187	M	0.87971	2.92	0.26277	N	0.978338	P	0.46621	0.881	B	0.40940	0.344	D	0.89722	0.3920	9	.	.	.	.	6.1201	0.20148	0.8857:0.0:0.1143:0.0	.	202	P98073	ENTK_HUMAN	I	202;172	ENSP00000284885:L202I;ENSP00000398253:L172I	.	L	-	1	2	TMPRSS15	18666441	0.546000	0.26457	0.993000	0.49108	0.824000	0.46624	1.313000	0.33585	0.916000	0.36871	0.455000	0.32223	TTA		0.383	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
ICOSLG	23308	broad.mit.edu	37	21	45655287	45655287	+	Missense_Mutation	SNP	C	C	T	rs537324360		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr21:45655287C>T	ENST00000407780.3	-	4	692	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	ICOSLG_ENST00000344330.4_Missense_Mutation_p.V189I|ICOSLG_ENST00000400377.3_Missense_Mutation_p.V72I|ICOSLG_ENST00000400379.3_Missense_Mutation_p.V189I	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	189	Ig-like C2-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TTCAAGAAGACGGTGTCATTC	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20998	0.0		0.0	False		,,,				2504	0.001					uc010gpp.1																			0				endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5						c.(565-567)Gtc>Atc		Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.							67.0	74.0	72.0					21																	45655287		2195	4298	6493	SO:0001583	missense	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45655287C>T	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.565G>A	21.37:g.45655287C>T	ENSP00000384432:p.Val189Ile					ICOSLG_uc002zef.3_Missense_Mutation_p.V72I|ICOSLG_uc002zee.3_Missense_Mutation_p.V189I|ICOSLG_uc011afc.2_Missense_Mutation_p.V99I	p.V189I	NM_015259	NP_056074	O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	3	699	-			189			Ig-like C2-type.		A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	ENST00000407780.3	37	c.565G>A	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	C	2.101	-0.406092	0.04832	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379;ENST00000400377	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	4.59	-2.08	0.07254	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.408644	0.20777	N	0.085867	T	0.49423	0.1556	L	0.31664	0.95	0.09310	N	1	B;B;B	0.33841	0.428;0.279;0.428	B;B;B	0.30179	0.112;0.04;0.112	T	0.35500	-0.9786	10	0.20519	T	0.43	.	3.0626	0.06204	0.3098:0.3372:0.0:0.353	.	189;72;189	A0N0L8;A8MUZ1;O75144	.;.;ICOSL_HUMAN	I	189;189;189;72	ENSP00000339477:V189I;ENSP00000384432:V189I;ENSP00000383230:V189I;ENSP00000383228:V72I	ENSP00000339477:V189I	V	-	1	0	ICOSLG	44479715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.097000	0.11042	-0.072000	0.12864	-1.564000	0.00881	GTC		0.552	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259	
LTF	4057	broad.mit.edu	37	3	46490484	46490484	+	Missense_Mutation	SNP	C	C	T	rs563611764		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:46490484C>T	ENST00000231751.4	-	9	1377	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	LTF_ENST00000417439.1_Missense_Mutation_p.R361H|LTF_ENST00000426532.2_Missense_Mutation_p.R317H	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	361					antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		GACCCGCGCACGCCGGGCAGC	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15948	0.0		0.0	False		,,,				2504	0.0					uc003cpq.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(1081-1083)cGt>cAt		Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	Pefloxacin(DB00487)						29.0	27.0	28.0					3																	46490484		2201	4293	6494	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46490484C>T		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1082G>A	3.37:g.46490484C>T	ENSP00000231751:p.Arg361His					LTF_uc003fzr.3_Missense_Mutation_p.R317H|LTF_uc010hjh.3_Missense_Mutation_p.R361H|LTF_uc003cpr.3_Missense_Mutation_p.R348H	p.R361H	NM_002343	NP_001186078	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	8	1323	-			361					A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.1082G>A	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322709	0.23994	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	3.55	-0.036	0.13890	.	1.596640	0.02933	N	0.139440	T	0.07954	0.0199	L	0.54323	1.7	0.09310	N	1	B;P;B	0.41188	0.277;0.741;0.277	B;B;B	0.26202	0.06;0.067;0.06	T	0.39781	-0.9597	10	0.48119	T	0.1	0.0225	6.2293	0.20726	0.0:0.5622:0.0:0.4378	.	361;348;361	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	H	361;317;361;348	ENSP00000231751:R361H;ENSP00000405719:R317H;ENSP00000405546:R361H;ENSP00000397427:R348H	ENSP00000231751:R361H	R	-	2	0	LTF	46465488	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.693000	0.05121	-0.024000	0.13941	-0.137000	0.14449	CGT		0.667	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343	
DHX30	22907	broad.mit.edu	37	3	47890010	47890010	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:47890010G>A	ENST00000445061.1	+	16	2952	c.2545G>A	c.(2545-2547)Gac>Aac	p.D849N	DHX30_ENST00000446256.2_Missense_Mutation_p.D810N|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000348968.4_Missense_Mutation_p.D821N|DHX30_ENST00000457607.1_Missense_Mutation_p.D877N	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	849						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAAGGCAGTGGACGAGGCTGT	0.622																																						uc003cru.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(2545-2547)Gac>Aac		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.							116.0	118.0	117.0					3																	47890010		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47890010G>A	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2545G>A	3.37:g.47890010G>A	ENSP00000405620:p.Asp849Asn					DHX30_uc003crt.3_Missense_Mutation_p.D810N|MIR1226_uc021wxj.1_5'Flank	p.D849N	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	15	2971	+			849					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.2545G>A	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	9.364	1.068872	0.20147	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.02498	4.27;4.27;4.27;4.27	5.21	4.34	0.51931	.	0.408437	0.28828	N	0.014002	T	0.01627	0.0052	N	0.13198	0.31	0.27082	N	0.963053	B;B	0.27498	0.18;0.006	B;B	0.20767	0.031;0.026	T	0.45920	-0.9228	10	0.13853	T	0.58	.	5.2149	0.15336	0.1703:0.0:0.6539:0.1758	.	849;810	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	N	810;849;821;877	ENSP00000392601:D810N;ENSP00000405620:D849N;ENSP00000343442:D821N;ENSP00000394682:D877N	ENSP00000343442:D821N	D	+	1	0	DHX30	47865014	1.000000	0.71417	0.672000	0.29872	0.939000	0.58152	4.099000	0.57755	1.190000	0.43042	0.655000	0.94253	GAC		0.622	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615	
IFRD2	7866	broad.mit.edu	37	3	50327467	50327467	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:50327467C>G	ENST00000429673.2	-	5	630	c.631G>C	c.(631-633)Gtg>Ctg	p.V211L	IFRD2_ENST00000436390.1_Missense_Mutation_p.V147L|IFRD2_ENST00000417626.2_Missense_Mutation_p.V147L|IFRD2_ENST00000336089.4_Missense_Mutation_p.V313L|IFRD2_ENST00000484043.1_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	211						nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCCAGCTGCACGCAGAGCAGG	0.637																																						uc003czb.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.(937-939)Gtg>Ctg		Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.							32.0	36.0	35.0					3																	50327467		2151	4266	6417	SO:0001583	missense	7866						binding	g.chr3:50327467C>G	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.631G>C	3.37:g.50327467C>G	ENSP00000398971:p.Val211Leu					IFRD2_uc011bdp.2_Missense_Mutation_p.V211L	p.V313L	NM_006764	NP_006755	Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	7	937	-			211					Q9BVB4|Q9UJ88	Missense_Mutation	SNP	ENST00000429673.2	37	c.937G>C	CCDS46831.1	.	.	.	.	.	.	.	.	.	.	C	5.709	0.315304	0.10789	.	.	ENSG00000214706	ENST00000417626;ENST00000436390;ENST00000336089;ENST00000429673	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.73	0.721	0.18219	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.225903	0.39210	N	0.001437	T	0.34919	0.0914	N	0.10972	0.075	0.26237	N	0.978936	B;B	0.20671	0.011;0.047	B;B	0.23716	0.028;0.048	T	0.15037	-1.0451	10	0.21014	T	0.42	-2.8565	5.6486	0.17604	0.0:0.4385:0.1665:0.395	.	211;313	Q12894;Q9UJ88	IFRD2_HUMAN;.	L	147;147;313;211	ENSP00000402849:V147L;ENSP00000392316:V147L;ENSP00000336936:V313L;ENSP00000398971:V211L	ENSP00000336936:V313L	V	-	1	0	IFRD2	50302471	0.551000	0.26497	0.421000	0.26609	0.771000	0.43674	0.375000	0.20518	0.094000	0.17404	0.655000	0.94253	GTG		0.637	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764	
GPR15	2838	broad.mit.edu	37	3	98251667	98251667	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:98251667G>A	ENST00000284311.3	+	1	925	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	264					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAAGTTCCTGGCCATTGTCTC	0.453																																						uc011bgy.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(790-792)Gcc>Acc		Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.							89.0	80.0	83.0					3																	98251667		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251667G>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.790G>A	3.37:g.98251667G>A	ENSP00000284311:p.Ala264Thr						p.A264T	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	0	790	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	264					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.790G>A	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	G	9.180	1.023386	0.19433	.	.	ENSG00000154165	ENST00000284311	T	0.72167	-0.63	4.39	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.132610	0.33290	N	0.005079	T	0.57902	0.2085	L	0.49513	1.565	0.32907	D	0.514046	B	0.18166	0.026	B	0.24269	0.052	T	0.54899	-0.8224	10	0.26408	T	0.33	-7.5308	3.8884	0.09108	0.1947:0.0:0.6135:0.1919	.	264	P49685	GPR15_HUMAN	T	264	ENSP00000284311:A264T	ENSP00000284311:A264T	A	+	1	0	GPR15	99734357	0.868000	0.29978	1.000000	0.80357	0.986000	0.74619	1.269000	0.33074	0.773000	0.33404	0.655000	0.94253	GCC		0.453	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1		
TRPC1	7220	broad.mit.edu	37	3	142524983	142524983	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:142524983A>G	ENST00000476941.1	+	13	2774	c.2288A>G	c.(2287-2289)gAa>gGa	p.E763G	TRPC1_ENST00000273482.6_Missense_Mutation_p.E729G	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	763					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AATCTAAACGAACTGCGCCAA	0.373																																						uc003evc.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						c.(2287-2289)gAa>gGa		Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.							96.0	95.0	95.0					3																	142524983		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142524983A>G	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.2288A>G	3.37:g.142524983A>G	ENSP00000419313:p.Glu763Gly					TRPC1_uc003evb.3_Missense_Mutation_p.E729G	p.E763G	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN			12	2424	+			763					Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.2288A>G	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.282687	0.59867	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.88818	-2.43;-2.43	5.59	5.59	0.84812	.	0.089570	0.85682	N	0.000000	D	0.93697	0.7986	M	0.84846	2.72	0.80722	D	1	B;P	0.52577	0.18;0.954	B;P	0.55871	0.06;0.786	D	0.94619	0.7811	10	0.87932	D	0	-6.7787	15.7661	0.78128	1.0:0.0:0.0:0.0	.	763;729	P48995;P48995-2	TRPC1_HUMAN;.	G	763;729	ENSP00000419313:E763G;ENSP00000273482:E729G	ENSP00000273482:E729G	E	+	2	0	TRPC1	144007673	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	8.942000	0.92970	2.134000	0.65973	0.460000	0.39030	GAA		0.373	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304	
CPZ	8532	broad.mit.edu	37	4	8605806	8605806	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:8605806G>A	ENST00000360986.4	+	4	774	c.600G>A	c.(598-600)acG>acA	p.T200T	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Silent_p.T63T|CPZ_ENST00000315782.6_Silent_p.T189T	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	200				T -> M (in Ref. 4; BC006393). {ECO:0000305}.	proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAGGCGGACGGCCTCCCGCT	0.701																																						uc003glm.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(598-600)acG>acA		Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.							20.0	17.0	18.0					4																	8605806		2183	4271	6454	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8605806G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.600G>A	4.37:g.8605806G>A						CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.T189T|CPZ_uc003gln.3_Silent_p.T63T	p.T200T	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN			3	774	+			200	T -> M (in Ref. 4; BC006393).				O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.600G>A	CCDS33953.1																																																																																				0.701	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652	
FRAS1	80144	broad.mit.edu	37	4	79366682	79366682	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:79366682G>A	ENST00000325942.6	+	42	6112	c.5672G>A	c.(5671-5673)cGt>cAt	p.R1891H	FRAS1_ENST00000264895.6_Missense_Mutation_p.R1891H	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1891					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCAGGTGATCGTTTTGGCCCT	0.393																																						uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(5671-5673)cGt>cAt		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.							104.0	99.0	101.0					4																	79366682		1915	4135	6050	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79366682G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5672G>A	4.37:g.79366682G>A	ENSP00000326330:p.Arg1891His					FRAS1_uc003hkw.3_Missense_Mutation_p.R1891H|FRAS1_uc010ijj.2_Missense_Mutation_p.R311H	p.R1891H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			41	6112	+			1890					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.5672G>A	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.236243	0.39498	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.51574	2.21;0.7	5.97	5.13	0.70059	.	0.478935	0.24400	N	0.038860	T	0.42108	0.1188	M	0.62723	1.935	0.58432	D	0.999992	B;B	0.20780	0.048;0.023	B;B	0.12156	0.007;0.004	T	0.26780	-1.0093	10	0.15499	T	0.54	.	10.7387	0.46141	0.07:0.1303:0.7997:0.0	.	1891;1891	E9PHH6;A2RRR8	.;.	H	1891	ENSP00000326330:R1891H;ENSP00000264895:R1891H	ENSP00000264895:R1891H	R	+	2	0	FRAS1	79585706	0.444000	0.25649	0.905000	0.35620	0.835000	0.47333	1.369000	0.34227	1.535000	0.49220	0.591000	0.81541	CGT		0.393	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
ALPK1	80216	broad.mit.edu	37	4	113351620	113351620	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:113351620G>T	ENST00000458497.1	+	11	1196	c.917G>T	c.(916-918)tGt>tTt	p.C306F	ALPK1_ENST00000177648.9_Missense_Mutation_p.C306F|ALPK1_ENST00000504176.2_Missense_Mutation_p.C228F	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	306							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGTGGCACGTGTTTATTGTCC	0.398																																						uc003ian.4																			0		p.T305T(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(916-918)tGt>tTt		Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.							68.0	69.0	69.0					4																	113351620		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113351620G>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.917G>T	4.37:g.113351620G>T	ENSP00000398048:p.Cys306Phe					ALPK1_uc003iap.4_Missense_Mutation_p.C306F|ALPK1_uc011cfx.2_Missense_Mutation_p.C228F|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.C134F	p.C306F	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	10	1144	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	306					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.917G>T	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035347	0.54896	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.26660	1.72;1.72;1.72	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.58346	-0.7652	10	0.87932	D	0	-18.3789	19.8968	0.96969	0.0:0.0:1.0:0.0	.	228;228;306	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	F	306;306;228	ENSP00000398048:C306F;ENSP00000177648:C306F;ENSP00000426044:C228F	ENSP00000177648:C306F	C	+	2	0	ALPK1	113571069	1.000000	0.71417	0.242000	0.24170	0.211000	0.24417	9.361000	0.97122	2.691000	0.91804	0.655000	0.94253	TGT		0.398	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144	
PRSS48	345062	broad.mit.edu	37	4	152203364	152203364	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:152203364C>T	ENST00000455694.2	+	3	282	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	94	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CTCAAGGAAACGTGTGAAGTA	0.473																																						uc011cif.2																			0				kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(280-282)Cgt>Tgt		Homo sapiens protease, serine, 48 (PRSS48), mRNA.							304.0	283.0	290.0					4																	152203364		2025	4191	6216	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152203364C>T	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.280C>T	4.37:g.152203364C>T	ENSP00000401328:p.Arg94Cys					PRSS48_uc011cig.2_Intron	p.R94C	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN			2	280	+			94			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.280C>T	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	C	9.009	0.981957	0.18812	.	.	ENSG00000189099	ENST00000455694	D	0.88975	-2.45	3.77	-0.134	0.13481	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.886778	0.09344	N	0.815107	T	0.81044	0.4741	L	0.28740	0.885	0.09310	N	1	B	0.28082	0.2	B	0.32022	0.139	T	0.69416	-0.5151	10	0.56958	D	0.05	.	4.1109	0.10058	0.4723:0.184:0.3437:0.0	.	94	Q7RTY5	PRS48_HUMAN	C	94	ENSP00000401328:R94C	ENSP00000401328:R94C	R	+	1	0	PRSS48	152422814	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	0.119000	0.15626	-0.072000	0.12864	-0.541000	0.04245	CGT		0.473	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375	
CDH18	1016	broad.mit.edu	37	5	19520782	19520782	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:19520782T>A	ENST00000507958.1	-	12	2486	c.1496A>T	c.(1495-1497)aAt>aTt	p.N499I	CDH18_ENST00000506372.1_Missense_Mutation_p.N499I|CDH18_ENST00000511273.1_Missense_Mutation_p.N499I|CDH18_ENST00000382275.1_Missense_Mutation_p.N499I|CDH18_ENST00000502796.1_Missense_Mutation_p.N499I|CDH18_ENST00000274170.4_Missense_Mutation_p.N499I			Q13634	CAD18_HUMAN	cadherin 18, type 2	499	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGGCTTAGAATTTTCACATAC	0.393																																						uc003jgd.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1495-1497)aAt>aTt		Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.							111.0	114.0	113.0					5																	19520782		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19520782T>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1496A>T	5.37:g.19520782T>A	ENSP00000425093:p.Asn499Ile					CDH18_uc011cnm.2_Missense_Mutation_p.N499I|CDH18_uc003jgc.3_Missense_Mutation_p.N499I|CDH18_uc021xwu.1_Missense_Mutation_p.N499I	p.N499I	NM_004934	NP_004925	Q13634	CAD18_HUMAN			9	2030	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		499			Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1496A>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308820	0.60305	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;1.74;1.74;1.74	5.22	5.22	0.72569	Cadherin (3);Cadherin-like (1);	0.089585	0.85682	D	0.000000	D	0.84174	0.5414	H	0.95114	3.625	0.44880	D	0.997893	P;D	0.60575	0.848;0.988	P;D	0.69654	0.726;0.965	D	0.88934	0.3375	9	.	.	.	.	14.212	0.65771	0.0:0.0:0.0:1.0	.	499;499	B4DHG6;Q13634	.;CAD18_HUMAN	I	499	ENSP00000371710:N499I;ENSP00000425093:N499I;ENSP00000274170:N499I;ENSP00000424931:N499I;ENSP00000422138:N499I;ENSP00000425854:N499I	.	N	-	2	0	CDH18	19556539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.560000	0.53763	2.102000	0.63906	0.528000	0.53228	AAT		0.393	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	C	T	rs377065100		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:41382221C>T	ENST00000377801.3	-	2	593	c.519G>A	c.(517-519)gcG>gcA	p.A173A	PLCXD3_ENST00000328457.3_Silent_p.A173A			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	173	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		19517	0.0		0.0	False		,,,				2504	0.001					uc003jmm.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(517-519)gcG>gcA		Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.							99.0	99.0	99.0					5																	41382221		2203	4300	6503	SO:0001819	synonymous_variant	345557				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	g.chr5:41382221C>T		CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.519G>A	5.37:g.41382221C>T							p.A173A	NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN			1	621	-			173			PI-PLC X-box.		A6NL04	Silent	SNP	ENST00000377801.3	37	c.519G>A	CCDS34150.1																																																																																				0.428	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367109.1	XM_293875	
FGF18	8817	broad.mit.edu	37	5	170883763	170883763	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:170883763C>T	ENST00000274625.5	+	5	1122	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	193					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGTACACGACGGTGACCAAG	0.657																																						uc003mbk.3																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9						c.(577-579)aCg>aTg		Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.							35.0	44.0	41.0					5																	170883763		2203	4300	6503	SO:0001583	missense	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170883763C>T	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.578C>T	5.37:g.170883763C>T	ENSP00000274625:p.Thr193Met						p.T193M	NM_003862	NP_003853	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	1115	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	193					D3DQL7|Q6UWF1	Missense_Mutation	SNP	ENST00000274625.5	37	c.578C>T	CCDS4378.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460882	0.84317	.	.	ENSG00000156427	ENST00000274625	T	0.73152	-0.72	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.72851	0.3512	L	0.32530	0.975	0.58432	D	0.999999	D	0.67145	0.996	P	0.55260	0.772	T	0.74166	-0.3753	10	0.51188	T	0.08	-12.0684	17.2373	0.87002	0.0:1.0:0.0:0.0	.	193	O76093	FGF18_HUMAN	M	193	ENSP00000274625:T193M	ENSP00000274625:T193M	T	+	2	0	FGF18	170816368	1.000000	0.71417	0.944000	0.38274	0.997000	0.91878	7.175000	0.77632	2.618000	0.88619	0.655000	0.94253	ACG		0.657	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862	
BCLAF1	9774	broad.mit.edu	37	6	136600997	136600997	+	Missense_Mutation	SNP	C	C	T	rs148729378	byFrequency	TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:136600997C>T	ENST00000531224.1	-	3	260	c.8G>A	c.(7-9)cGc>cAc	p.R3H	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R3H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R3H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R3H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R3H|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R3H	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	3					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R3H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAATTGGAGCGACCCATTTC	0.308																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)	p.R3H(1)	lung(1)	haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(7-9)cGc>cAc		Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	79.0	70.0	73.0		8,8,8	5.8	1.0	6	dbSNP_134	73	2,8598	1.2+/-3.3	0,2,4298	no	missense,missense,missense	BCLAF1	NM_001077440.1,NM_001077441.1,NM_014739.2	29,29,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	3/870,3/748,3/921	136600997	2,13004	2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136600997C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.8G>A	6.37:g.136600997C>T	ENSP00000435210:p.Arg3His					BCLAF1_uc003qgy.1_Missense_Mutation_p.R3H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R3H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R3H	p.R3H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	2	261	-	Colorectal(23;0.24)		3					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.8G>A	CCDS5177.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	0	0.0	C	18.58	3.655620	0.67586	0.0	2.33E-4	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.28069	2.01;1.85;1.93;1.63;1.93;1.85;1.78	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000003	T	0.36110	0.0955	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74674	0.984;0.984;0.984;0.984	T	0.10268	-1.0637	10	0.87932	D	0	-3.479	13.5536	0.61747	0.0:0.9288:0.0:0.0712	.	3;3;3;3	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	H	3	ENSP00000435210:R3H;ENSP00000229446:R3H;ENSP00000435441:R3H;ENSP00000436501:R3H;ENSP00000434826:R3H;ENSP00000376159:R3H;ENSP00000431734:R3H	ENSP00000229446:R3H	R	-	2	0	BCLAF1	136642690	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.332000	0.52083	2.890000	0.99128	0.585000	0.79938	CGC		0.308	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
ESR1	2099	broad.mit.edu	37	6	152265483	152265483	+	Silent	SNP	C	C	T	rs375030142		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:152265483C>T	ENST00000206249.3	+	4	1298	c.936C>T	c.(934-936)gcC>gcT	p.A312A	ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000338799.5_Silent_p.A312A|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000427531.2_Silent_p.A139A|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Silent_p.A312A|ESR1_ENST00000440973.1_Silent_p.A312A	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	312	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A312A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CCCTGACGGCCGACCAGATGG	0.547																																						uc010kio.3																			1	Substitution - coding silent(1)	p.A312A(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49						c.(940-942)gcC>gcT		Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	C	,,,	0,4406		0,0,2203	116.0	111.0	113.0		936,936,936,936	-6.6	0.5	6		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ESR1	NM_000125.3,NM_001122740.1,NM_001122741.1,NM_001122742.1	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	312/596,312/596,312/596,312/596	152265483	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152265483C>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.936C>T	6.37:g.152265483C>T						ESR1_uc003qom.4_Silent_p.A312A|ESR1_uc010kin.3_Silent_p.A312A|ESR1_uc010kip.3_Silent_p.A311A|ESR1_uc003qon.4_Silent_p.A312A|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Silent_p.A312A|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Intron|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Silent_p.A93A|ESR1_uc010kit.1_Silent_p.A49A|ESR1_uc011eey.2_Silent_p.A49A	p.A314A	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	4	1160	+		Ovarian(120;0.0448)	312			Interaction with AKAP13.|Steroid-binding.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.942C>T	CCDS5234.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.330717	0.24167	0.0	1.16E-4	ENSG00000091831	ENST00000427531	.	.	.	5.66	-6.63	0.01807	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45264	-0.9273	4	.	.	.	.	6.3233	0.21229	0.2155:0.3485:0.0:0.436	.	.	.	.	L	217	.	.	P	+	2	0	ESR1	152307176	0.006000	0.16342	0.541000	0.28102	0.919000	0.55068	-1.205000	0.03014	-1.331000	0.02252	-0.290000	0.09829	CCG		0.547	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1		
SYNE1	23345	broad.mit.edu	37	6	152461284	152461284	+	Missense_Mutation	SNP	C	C	T	rs556231915		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:152461284C>T	ENST00000367255.5	-	140	25860	c.25259G>A	c.(25258-25260)cGa>cAa	p.R8420Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.R8032Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8372Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8372Q|SYNE1_ENST00000539504.1_Missense_Mutation_p.R575Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8420Q|SYNE1_ENST00000354674.4_Missense_Mutation_p.R598Q|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2944Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8420					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGCTCCCATCGGTCAATCAC	0.458										HNSCC(10;0.0054)																												uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25258-25260)cGa>cAa		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							110.0	94.0	99.0					6																	152461284		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152461284C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25259G>A	6.37:g.152461284C>T	ENSP00000356224:p.Arg8420Gln	HNSCC(10;0.0054)				SYNE1_uc003qos.4_Missense_Mutation_p.R2944Q|SYNE1_uc003qot.4_Missense_Mutation_p.R8372Q|SYNE1_uc003qou.4_Missense_Mutation_p.R8420Q|SYNE1_uc011eez.2_Missense_Mutation_p.R622Q|SYNE1_uc003qoq.4_Missense_Mutation_p.R622Q|SYNE1_uc003qor.4_Missense_Mutation_p.R1343Q	p.R8420Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25482	-		Ovarian(120;0.0955)	8420					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25259G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825924	0.90955	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.60797	0.26;4.38;1.11;0.32;0.16;0.32;0.39;2.2;1.29;4.4	5.92	5.92	0.95590	.	0.000000	0.50627	D	0.000119	T	0.77928	0.4204	M	0.87900	2.915	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.982	T	0.78198	-0.2297	10	0.51188	T	0.08	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	8420;8420;8372;8372;622	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	Q	8420;575;1066;8372;8420;8372;8032;2944;605;600;1365;598	ENSP00000356224:R8420Q;ENSP00000441052:R575Q;ENSP00000356226:R1066Q;ENSP00000396024:R8372Q;ENSP00000265368:R8420Q;ENSP00000390975:R8372Q;ENSP00000341887:R8032Q;ENSP00000349276:R2944Q;ENSP00000356220:R1365Q;ENSP00000346701:R598Q	ENSP00000265368:R8420Q	R	-	2	0	SYNE1	152502977	1.000000	0.71417	0.990000	0.47175	0.438000	0.31896	7.813000	0.86123	2.813000	0.96785	0.561000	0.74099	CGA		0.458	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
ADAM22	53616	broad.mit.edu	37	7	87795154	87795154	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:87795154G>A	ENST00000265727.7	+	24	2163	c.2084G>A	c.(2083-2085)aGt>aAt	p.S695N	ADAM22_ENST00000315984.7_Missense_Mutation_p.S695N|ADAM22_ENST00000398209.3_Missense_Mutation_p.S695N|ADAM22_ENST00000398204.4_Missense_Mutation_p.S695N|ADAM22_ENST00000398201.4_Missense_Mutation_p.S695N			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	695	EGF-like.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTTTGCAGTAATGAGCTG	0.368																																						uc003ujn.3																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(2083-2085)aGt>aAt		Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.							126.0	118.0	120.0					7																	87795154		1895	4111	6006	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87795154G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2084G>A	7.37:g.87795154G>A	ENSP00000265727:p.Ser695Asn					ADAM22_uc003ujk.2_Missense_Mutation_p.S695N|ADAM22_uc003ujl.2_Missense_Mutation_p.S695N|ADAM22_uc003ujm.3_Missense_Mutation_p.S695N|ADAM22_uc003ujo.3_Missense_Mutation_p.S695N|ADAM22_uc003ujp.1_Missense_Mutation_p.S747N	p.S695N	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		23	2299	+	Esophageal squamous(14;0.00202)		695			EGF-like.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.2084G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516091	0.64634	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203;ENST00000426930	T;T;T;T;T;T;T	0.43688	4.92;4.86;4.84;4.83;4.85;4.85;0.94	5.58	5.58	0.84498	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.46425	0.1392	N	0.12637	0.245	0.80722	D	1	P;P;P;D	0.65815	0.742;0.832;0.742;0.995	B;P;B;D	0.80764	0.387;0.591;0.236;0.994	T	0.35325	-0.9793	10	0.17369	T	0.5	.	18.6828	0.91553	0.0:0.0:1.0:0.0	.	747;695;695;695	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	N	695;695;695;695;695;662;53	ENSP00000381262:S695N;ENSP00000381260:S695N;ENSP00000265727:S695N;ENSP00000315900:S695N;ENSP00000381267:S695N;ENSP00000381261:S662N;ENSP00000396233:S53N	ENSP00000265727:S695N	S	+	2	0	ADAM22	87633090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.756000	0.91651	2.782000	0.95742	0.650000	0.86243	AGT		0.368	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
ZNF3	7551	broad.mit.edu	37	7	99672770	99672770	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:99672770C>G	ENST00000424697.1	-	5	565	c.259G>C	c.(259-261)Gtg>Ctg	p.V87L	ZNF3_ENST00000413658.2_Missense_Mutation_p.V87L|ZNF3_ENST00000299667.4_Missense_Mutation_p.V87L|ZNF3_ENST00000303915.6_Missense_Mutation_p.V87L	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	87	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGTGAGAACACATTCCCGTAA	0.458																																						uc003uss.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(280-282)Gtg>Ctg		Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.							154.0	159.0	157.0					7																	99672770		2188	4295	6483	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99672770C>G	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.259G>C	7.37:g.99672770C>G	ENSP00000415358:p.Val87Leu					ZNF3_uc003usp.3_Missense_Mutation_p.V87L|ZNF3_uc003usq.3_Missense_Mutation_p.V87L|ZNF3_uc010lgj.3_Missense_Mutation_p.V51L|ZNF3_uc003usr.3_Missense_Mutation_p.V87L|ZNF3_uc003ust.4_Missense_Mutation_p.V87L	p.V94L			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		1	598	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	87			KRAB.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.280G>C	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412271	0.62511	.	.	ENSG00000166526	ENST00000413658;ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683;ENST00000441298;ENST00000415068	T;T;T;T;T;T;T;T;T	0.01005	5.45;5.45;5.45;5.45;5.45;5.45;5.45;5.45;5.45	5.08	5.08	0.68730	Krueppel-associated box (4);	0.000000	0.43110	D	0.000606	T	0.00608	0.0020	N	0.03881	-0.34	0.31980	N	0.605979	B;B;B	0.25904	0.098;0.098;0.137	B;B;B	0.31869	0.08;0.137;0.058	T	0.32981	-0.9886	10	0.02654	T	1	-9.6509	11.6465	0.51263	0.0:0.8211:0.1789:0.0	.	70;87;87	B3KRP4;P17036;P17036-2	.;ZNF3_HUMAN;.	L	87;87;87;87;51;87;87;51;87	ENSP00000399951:V87L;ENSP00000415358:V87L;ENSP00000306372:V87L;ENSP00000299667:V87L;ENSP00000416088:V51L;ENSP00000405970:V87L;ENSP00000388042:V87L;ENSP00000394113:V51L;ENSP00000416686:V87L	ENSP00000299667:V87L	V	-	1	0	ZNF3	99510706	0.004000	0.15560	0.957000	0.39632	0.919000	0.55068	0.195000	0.17155	2.637000	0.89404	0.650000	0.86243	GTG		0.458	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715	
MUC17	140453	broad.mit.edu	37	7	100674888	100674888	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:100674888C>T	ENST00000306151.4	+	3	255	c.191C>T	c.(190-192)gCg>gTg	p.A64V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	64					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAGGTTCTGCGGCAAACACC	0.418																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(190-192)gCg>gTg		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							68.0	66.0	67.0					7																	100674888		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100674888C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.191C>T	7.37:g.100674888C>T	ENSP00000302716:p.Ala64Val					MUC17_uc010lho.1_Non-coding_Transcript	p.A64V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	244	+	Lung NSC(181;0.136)|all_lung(186;0.182)		64					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.191C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.023	-1.404427	0.01155	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.902	-1.8	0.07907	.	.	.	.	.	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	B	0.28667	0.219	B	0.11329	0.006	T	0.42716	-0.9435	9	0.31617	T	0.26	.	7.1277	0.25482	0.0:0.4802:0.0:0.5198	.	64	Q685J3	MUC17_HUMAN	V	64	ENSP00000302716:A64V	ENSP00000302716:A64V	A	+	2	0	MUC17	100461608	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.771000	0.00099	-2.432000	0.00556	-2.544000	0.00179	GCG		0.418	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
CCDC136	64753	broad.mit.edu	37	7	128434467	128434469	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:128434467_128434469delGAA	ENST00000297788.4	+	2	449_451	c.82_84delGAA	c.(82-84)gaadel	p.E32del	CCDC136_ENST00000378685.4_In_Frame_Del_p.E82del|CCDC136_ENST00000464832.1_In_Frame_Del_p.E82del|CCDC136_ENST00000487361.1_In_Frame_Del_p.E32del	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	32	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						agaagaggtggaagaagaagaag	0.552																																						uc003vnv.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(82-84)gaadel		Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.			,	48,4104		6,36,2034					,	-6.6	0.0			26	80,7936		7,66,3935	no	coding,coding	CCDC136	NM_022742.4,NM_001201372.1	,	13,102,5969	A1A1,A1R,RR		0.998,1.1561,1.0519	,	,		128,12040				SO:0001651	inframe_deletion	64753					integral to membrane	protein binding	g.chr7:128434467_128434469delGAA		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.82_84delGAA	7.37:g.128434476_128434478delGAA	ENSP00000297788:p.Glu32del					CCDC136_uc003vnu.2_In_Frame_Del_p.E82del	p.E32del	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			1	498_500	+			32			Glu-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	In_Frame_Del	DEL	ENST00000297788.4	37	c.82_84delGAA	CCDS47704.1																																																																																				0.552	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
TAS2R41	259287	broad.mit.edu	37	7	143174982	143174982	+	Missense_Mutation	SNP	C	C	T	rs371232991		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:143174982C>T	ENST00000408916.1	+	1	17	c.17C>T	c.(16-18)aCg>aTg	p.T6M	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	6					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GCAGCACTGACGGCCTTCTTC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		19501	0.001		0.0	False		,,,				2504	0.0					uc003wdc.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(16-18)aCg>aTg		Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.		C	MET/THR	1,4159		0,1,2079	118.0	114.0	115.0		17	1.0	0.0	7		115	1,8447		0,1,4223	no	missense	TAS2R41	NM_176883.2	81	0,2,6302	TT,TC,CC		0.0118,0.024,0.0159	possibly-damaging	6/308	143174982	2,12606	2080	4224	6304	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143174982C>T	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.17C>T	7.37:g.143174982C>T	ENSP00000386201:p.Thr6Met					LOC285965_uc003wda.3_Intron	p.T6M	NM_176883	NP_795364	P59536	T2R41_HUMAN			0	17	+	Melanoma(164;0.15)		6					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.17C>T	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	C	8.324	0.824886	0.16678	2.4E-4	1.18E-4	ENSG00000221855	ENST00000408916	T	0.37752	1.18	4.99	1.05	0.20165	.	0.894418	0.09257	U	0.827101	T	0.30603	0.0770	L	0.37850	1.14	0.09310	N	1	P	0.52061	0.95	P	0.48270	0.572	T	0.13710	-1.0499	10	0.42905	T	0.14	.	2.9984	0.06005	0.1325:0.5246:0.1205:0.2223	.	6	P59536	T2R41_HUMAN	M	6	ENSP00000386201:T6M	ENSP00000386201:T6M	T	+	2	0	TAS2R41	142885104	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.151000	0.10175	0.034000	0.15491	-2.246000	0.00285	ACG		0.572	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1		
TAS2R41	259287	broad.mit.edu	37	7	143175836	143175836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:143175836C>T	ENST00000408916.1	+	1	871	c.871C>T	c.(871-873)Cga>Tga	p.R291*	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	291					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCTCAAGCTTCGAAGCGTGTT	0.502																																						uc003wdc.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(871-873)Cga>Tga		Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.							114.0	105.0	108.0					7																	143175836		2055	4199	6254	SO:0001587	stop_gained	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175836C>T	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.871C>T	7.37:g.143175836C>T	ENSP00000386201:p.Arg291*					LOC285965_uc003wda.3_Intron	p.R291*	NM_176883	NP_795364	P59536	T2R41_HUMAN			0	871	+	Melanoma(164;0.15)		291					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Nonsense_Mutation	SNP	ENST00000408916.1	37	c.871C>T	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805573	0.31961	.	.	ENSG00000221855	ENST00000408916	.	.	.	6.0	5.08	0.68730	.	0.331818	0.24945	U	0.034348	.	.	.	.	.	.	0.33900	D	0.638436	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0643	0.64819	0.0:0.8363:0.1637:0.0	.	.	.	.	X	291	.	ENSP00000386201:R291X	R	+	1	2	TAS2R41	142885958	0.000000	0.05858	0.117000	0.21633	0.088000	0.18126	0.352000	0.20113	2.848000	0.98002	0.655000	0.94253	CGA		0.502	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1		
KCNB2	9312	broad.mit.edu	37	8	73849053	73849053	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:73849053C>T	ENST00000523207.1	+	3	2051	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	488					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AATCACCTGTCGCCAAGCCGG	0.527																																						uc003xzb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(1462-1464)tCg>tTg		Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.							86.0	94.0	91.0					8																	73849053		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849053C>T	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1463C>T	8.37:g.73849053C>T	ENSP00000430846:p.Ser488Leu						p.S488L	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	2051	+	Breast(64;0.137)		488					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.1463C>T	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936967	0.73557	.	.	ENSG00000182674	ENST00000523207	T	0.38240	1.15	5.47	5.47	0.80525	.	1.757760	0.03216	N	0.176869	T	0.65365	0.2684	M	0.64997	1.995	0.58432	D	0.999996	D	0.89917	1.0	D	0.70016	0.967	T	0.46596	-0.9180	10	0.42905	T	0.14	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	488	Q92953	KCNB2_HUMAN	L	488	ENSP00000430846:S488L	ENSP00000430846:S488L	S	+	2	0	KCNB2	74011607	1.000000	0.71417	0.972000	0.41901	0.573000	0.36030	7.666000	0.83877	2.553000	0.86117	0.655000	0.94253	TCG		0.527	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
KIAA1429	25962	broad.mit.edu	37	8	95547143	95547143	+	Silent	SNP	T	T	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:95547143T>C	ENST00000297591.5	-	5	483	c.408A>G	c.(406-408)agA>agG	p.R136R	RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000421249.2_Silent_p.R136R|KIAA1429_ENST00000437199.1_Silent_p.R136R	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	136					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			gtggAGAGTCTCTGTCATGAC	0.448																																						uc003ygo.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(406-408)agA>agG		Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.							122.0	107.0	112.0					8																	95547143		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95547143T>C	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.408A>G	8.37:g.95547143T>C						KIAA1429_uc003ygp.3_Silent_p.R136R	p.R136R	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		4	479	-	Breast(36;3.29e-05)		136					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.408A>G	CCDS34923.1																																																																																				0.448	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
PKHD1L1	93035	broad.mit.edu	37	8	110476724	110476724	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:110476724G>A	ENST00000378402.5	+	49	7767	c.7663G>A	c.(7663-7665)Gat>Aat	p.D2555N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2555					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D2557N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTCTGAATGATGATGTGAC	0.443										HNSCC(38;0.096)																												uc003yne.3																			2	Substitution - Missense(2)	p.D2557N(2)	lung(2)	NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(7663-7665)Gat>Aat		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.							105.0	103.0	104.0					8																	110476724		1986	4154	6140	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110476724G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7663G>A	8.37:g.110476724G>A	ENSP00000367655:p.Asp2555Asn	HNSCC(38;0.096)					p.D2555N	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		48	7767	+			2555					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.7663G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686544	0.88639	.	.	ENSG00000205038	ENST00000378402	D	0.87729	-2.29	5.55	5.55	0.83447	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	D	0.91862	0.7424	M	0.90759	3.145	0.44595	D	0.99756	P	0.41546	0.754	P	0.49047	0.599	D	0.90146	0.4217	10	0.15952	T	0.53	.	16.9905	0.86352	0.0:0.0:1.0:0.0	.	2555	Q86WI1	PKHL1_HUMAN	N	2555	ENSP00000367655:D2555N	ENSP00000367655:D2555N	D	+	1	0	PKHD1L1	110545900	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.378000	0.90144	2.610000	0.88304	0.655000	0.94253	GAT		0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
SLC45A4	57210	broad.mit.edu	37	8	142229845	142229845	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:142229845C>T	ENST00000024061.3	-	3	668	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	SLC45A4_ENST00000519067.1_Missense_Mutation_p.A121T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A114T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A172T	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GTGGCATCGGCGCTGAAGTCC	0.657																																						uc003ywd.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(361-363)Gcc>Acc		Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.							81.0	53.0	62.0					8																	142229845		2202	4300	6502	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142229845C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.361G>A	8.37:g.142229845C>T	ENSP00000024061:p.Ala121Thr					SLC45A4_uc003ywc.1_Missense_Mutation_p.A121T|SLC45A4_uc010meq.1_Missense_Mutation_p.A119T	p.A121T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		2	669	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		172					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.361G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	37	6.157887	0.97334	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.93083	0.7798	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.97110	1.0;1.0;0.98	D	0.93463	0.6812	10	0.87932	D	0	-26.1394	19.368	0.94471	0.0:1.0:0.0:0.0	.	172;121;121	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	T	121;172;114;121	ENSP00000429059:A121T;ENSP00000428137:A172T;ENSP00000400799:A114T;ENSP00000024061:A121T	ENSP00000024061:A121T	A	-	1	0	SLC45A4	142299027	1.000000	0.71417	0.984000	0.44739	0.967000	0.64934	7.272000	0.78516	2.572000	0.86782	0.563000	0.77884	GCC		0.657	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325	
CYLC2	1539	broad.mit.edu	37	9	105767804	105767804	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr9:105767804G>A	ENST00000374798.3	+	5	961	c.891G>A	c.(889-891)acG>acA	p.T297T	CYLC2_ENST00000487798.1_Silent_p.T297T	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	297	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.T297T(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aggacgccacgaaagatgcca	0.388																																						uc004bbs.2																			2	Substitution - coding silent(2)	p.T297T(4)|p.A296A(1)|p.T297M(1)	stomach(1)|skin(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(889-891)acG>acA		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.							70.0	67.0	68.0					9																	105767804		2203	4300	6503	SO:0001819	synonymous_variant	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767804G>A	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.891G>A	9.37:g.105767804G>A							p.T297T	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			4	961	+		all_hematologic(171;0.125)	297			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Silent	SNP	ENST00000374798.3	37	c.891G>A	CCDS35085.1																																																																																				0.388	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
MAGEB6	158809	broad.mit.edu	37	X	26212572	26212572	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:26212572G>A	ENST00000379034.1	+	2	758	c.609G>A	c.(607-609)gcG>gcA	p.A203A		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	203	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A203A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCACGTTGGCGCAATTCCTGC	0.478																																						uc022buc.1																			1	Substitution - coding silent(1)	p.A203A(2)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						c.(607-609)gcG>gcA		Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.							85.0	72.0	76.0					X																	26212572		2202	4300	6502	SO:0001819	synonymous_variant	158809							g.chrX:26212572G>A	AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.609G>A	X.37:g.26212572G>A						MAGEB6_uc004dbr.3_Silent_p.A203A	p.A203A	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN			0	609	+			203			MAGE.		Q6GS19|Q9H219	Silent	SNP	ENST00000379034.1	37	c.609G>A	CCDS14217.1																																																																																				0.478	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1	NM_173523	
TMEM255A	55026	broad.mit.edu	37	X	119410833	119410833	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:119410833G>A	ENST00000309720.5	-	8	777	c.654C>T	c.(652-654)ctC>ctT	p.L218L	TMEM255A_ENST00000371352.1_Silent_p.L54L|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371369.4_Silent_p.L194L	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	218						integral component of membrane (GO:0016021)											GCAGGTGGTAGAGGTGGATGA	0.542																																						uc004eso.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						c.(652-654)ctC>ctT		Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.							270.0	194.0	219.0					X																	119410833		2203	4300	6503	SO:0001819	synonymous_variant	55026					integral to membrane		g.chrX:119410833G>A	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.654C>T	X.37:g.119410833G>A						FAM70A_uc004esp.4_Silent_p.L194L|FAM70A_uc010nqo.3_Intron	p.L218L	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			7	881	-			218					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.654C>T	CCDS14597.1																																																																																				0.542	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938	
SAGE1	55511	broad.mit.edu	37	X	134986679	134986679	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:134986679C>T	ENST00000370709.3	+	3	264	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SAGE1_ENST00000537770.1_Silent_p.N88N|SAGE1_ENST00000324447.3_Silent_p.N88N|SAGE1_ENST00000535938.1_Silent_p.N88N			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	88						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGATAAATAACGGCCAACCAG	0.443																																						uc004ezh.3																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(262-264)aaC>aaT		Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.							182.0	145.0	158.0					X																	134986679		2203	4300	6503	SO:0001819	synonymous_variant	55511							g.chrX:134986679C>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.264C>T	X.37:g.134986679C>T						SAGE1_uc010nry.1_Intron|SAGE1_uc011mvv.2_Silent_p.N88N	p.N88N	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			3	431	+	Acute lymphoblastic leukemia(192;0.000127)		88					Q5JNW0	Silent	SNP	ENST00000370709.3	37	c.264C>T	CCDS14652.1																																																																																				0.443	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666	
GPR112	139378	broad.mit.edu	37	X	135430793	135430793	+	Missense_Mutation	SNP	C	C	T	rs146283448		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:135430793C>T	ENST00000394143.1	+	6	5219	c.4928C>T	c.(4927-4929)aCg>aTg	p.T1643M	GPR112_ENST00000370652.1_Missense_Mutation_p.T1643M|GPR112_ENST00000287534.4_Missense_Mutation_p.T1580M|GPR112_ENST00000394141.1_Missense_Mutation_p.T1438M|GPR112_ENST00000412101.1_Missense_Mutation_p.T1438M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1643					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCACACCTACGACCTTTCTC	0.468													c|||	1	0.000264901	0.0	0.0	3775	,	,		14604	0.0		0.0	False		,,,				2504	0.001					uc004ezu.1																			0		p.P1642H(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(4927-4929)aCg>aTg		Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.			MET/THR	0,3835		0,0,0,1632,571	140.0	133.0	135.0		4928	0.3	0.0	X	dbSNP_134	135	4,6724		0,3,1,2425,1871	yes	missense	GPR112	NM_153834.3	81	0,3,1,4057,2442	TT,TC,T,CC,C		0.0595,0.0,0.0379	probably-damaging	1643/3081	135430793	4,10559	2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135430793C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4928C>T	X.37:g.135430793C>T	ENSP00000377699:p.Thr1643Met					GPR112_uc010nsb.1_Missense_Mutation_p.T1438M|GPR112_uc010nsc.1_Missense_Mutation_p.T1410M	p.T1643M	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			5	5219	+	Acute lymphoblastic leukemia(192;0.000127)		1643					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.4928C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	12.45	1.942198	0.34283	0.0	5.95E-4	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.34275	1.4;1.4;1.37;1.5;1.37	3.39	0.326	0.15908	.	.	.	.	.	T	0.38108	0.1028	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.996	D;P;P	0.64595	0.927;0.832;0.586	T	0.17684	-1.0361	9	0.66056	D	0.02	.	3.2562	0.06832	0.2089:0.5201:0.0:0.2711	.	1580;1438;1643	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	M	1643;1643;1438;1580;1438	ENSP00000377699:T1643M;ENSP00000359686:T1643M;ENSP00000416526:T1438M;ENSP00000287534:T1580M;ENSP00000377697:T1438M	ENSP00000287534:T1580M	T	+	2	0	GPR112	135258459	0.001000	0.12720	0.000000	0.03702	0.073000	0.16967	0.260000	0.18424	0.006000	0.14734	0.425000	0.28330	ACG		0.468	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
DNASE1L1	1774	broad.mit.edu	37	X	153633852	153633852	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:153633852G>A	ENST00000393638.1	-	2	344	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	DNASE1L1_ENST00000369809.1_Missense_Mutation_p.R20C	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	20					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCAGATGCGAAAGGCCTGG	0.607																																						uc004fks.1																			0				lung(6)	6						c.(58-60)Cgc>Tgc		Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA.							85.0	60.0	68.0					X																	153633852		2203	4299	6502	SO:0001583	missense	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153633852G>A	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.58C>T	X.37:g.153633852G>A	ENSP00000377255:p.Arg20Cys					DNASE1L1_uc004fkt.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fku.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkv.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkw.1_Missense_Mutation_p.R20C	p.R20C	NM_006730	NP_006721	P49184	DNSL1_HUMAN			1	249	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		20					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.58C>T	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.486021	0.44147	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000447892;ENST00000451865;ENST00000412184;ENST00000424626;ENST00000432135	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	4.65	2.84	0.33178	Endonuclease/exonuclease/phosphatase (2);	0.165378	0.40640	N	0.001057	T	0.65228	0.2671	M	0.90425	3.115	0.38408	D	0.945854	D	0.89917	1.0	D	0.81914	0.995	T	0.68911	-0.5284	10	0.87932	D	0	45.5967	7.0012	0.24811	0.2292:0.0:0.7708:0.0	.	20	P49184	DNSL1_HUMAN	C	20	ENSP00000358824:R20C;ENSP00000377255:R20C;ENSP00000014935:R20C;ENSP00000358823:R20C;ENSP00000358822:R20C;ENSP00000309168:R20C;ENSP00000393346:R20C;ENSP00000393000:R20C	ENSP00000014935:R20C	R	-	1	0	DNASE1L1	153287046	0.971000	0.33674	1.000000	0.80357	0.964000	0.63967	2.019000	0.41001	0.769000	0.33313	0.589000	0.80489	CGC		0.607	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2		
