#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
MTHFR	4524	broad.mit.edu	37	1	11850780	11850780	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr1:11850780delA	ENST00000376592.1	-	11	2056	c.1928delT	c.(1927-1929)ctcfs	p.L643fs	MTHFR_ENST00000376590.3_Frame_Shift_Del_p.L643fs|MTHFR_ENST00000376583.3_Frame_Shift_Del_p.L684fs|MTHFR_ENST00000376585.1_Frame_Shift_Del_p.L684fs			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	643					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GGGCCTGTTGAGAAGCTCCAA	0.582																																						uc001atb.1																			0				NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1996-1998)ctcfs		Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						158.0	122.0	134.0					1																	11850780		2203	4300	6503	SO:0001589	frameshift_variant	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11850780delA	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1928delT	1.37:g.11850780delA	ENSP00000365777:p.Leu643fs					MTHFR_uc001atc.2_Frame_Shift_Del_p.L643fs	p.L666fs	NM_005957	NP_005948	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	10	2195	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	643					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Frame_Shift_Del	DEL	ENST00000376592.1	37	c.1997delT	CCDS137.1																																																																																				0.582	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957	
HFM1	164045	broad.mit.edu	37	1	91784871	91784871	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr1:91784871G>A	ENST00000370425.3	-	24	2757	c.2659C>T	c.(2659-2661)Cat>Tat	p.H887Y	HFM1_ENST00000370424.3_Missense_Mutation_p.H566Y|HFM1_ENST00000294696.5_Missense_Mutation_p.H119Y|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	887	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CGGGAGCCATGTCTGAAAATC	0.323																																						uc001doa.4																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(2659-2661)Cat>Tat		Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.							115.0	107.0	110.0					1																	91784871		2203	4300	6503	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91784871G>A	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.2659C>T	1.37:g.91784871G>A	ENSP00000359454:p.His887Tyr					HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.H566Y|HFM1_uc001dob.4_Missense_Mutation_p.H119Y|HFM1_uc010osv.1_Missense_Mutation_p.H571Y	p.H887Y	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	23	2758	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	887			SEC63.		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.2659C>T	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492445	0.26774	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.60672	0.17;0.17;0.17	5.0	3.87	0.44632	Sec63 domain (2);	0.396919	0.28964	N	0.013569	T	0.37598	0.1009	L	0.57536	1.79	0.29211	N	0.874567	B;B;B	0.19200	0.034;0.021;0.021	B;B;B	0.30855	0.055;0.121;0.007	T	0.36817	-0.9732	10	0.44086	T	0.13	.	11.1047	0.48197	0.0:0.0:0.3115:0.6885	.	566;142;887	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	Y	887;119;566;571	ENSP00000359454:H887Y;ENSP00000294696:H119Y;ENSP00000359453:H566Y	ENSP00000294696:H119Y	H	-	1	0	HFM1	91557459	1.000000	0.71417	0.974000	0.42286	0.584000	0.36387	4.159000	0.58157	0.854000	0.35336	-0.271000	0.10264	CAT		0.323	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
SPRR4	163778	broad.mit.edu	37	1	152944576	152944576	+	Silent	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr1:152944576C>T	ENST00000328051.2	+	2	259	c.210C>T	c.(208-210)gcC>gcT	p.A70A		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	70	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCCCTCAGCCCAGCAAGCCT	0.522																																						uc001fav.1																			0				lung(1)|prostate(1)	2						c.(208-210)gcC>gcT		Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.							143.0	113.0	123.0					1																	152944576		2203	4300	6503	SO:0001819	synonymous_variant	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944576C>T	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.210C>T	1.37:g.152944576C>T						SPRR4_uc021ozm.1_Silent_p.A70A	p.A70A	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	273	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		70			Gln-rich.		Q2M1Y7|Q5T522	Silent	SNP	ENST00000328051.2	37	c.210C>T	CCDS1031.1																																																																																				0.522	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080	
KCNH1	3756	broad.mit.edu	37	1	211093222	211093222	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr1:211093222C>T	ENST00000271751.4	-	7	1249	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	KCNH1_ENST00000367007.4_Missense_Mutation_p.E381K			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	408					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTGGTGTCCTCGTCAAAGATC	0.547																																						uc001hib.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1222-1224)Gag>Aag		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.							209.0	182.0	191.0					1																	211093222		2203	4300	6503	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211093222C>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1222G>A	1.37:g.211093222C>T	ENSP00000271751:p.Glu408Lys					KCNH1_uc001hic.2_Missense_Mutation_p.E381K	p.E408K	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	1392	-			408					B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.1222G>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079840	0.36662	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.98280	-4.84;-4.84	5.8	5.8	0.92144	Ion transport (1);	0.049338	0.85682	D	0.000000	D	0.96222	0.8768	L	0.50333	1.59	0.80722	D	1	B;B	0.30889	0.299;0.16	B;B	0.25987	0.041;0.065	D	0.95481	0.8560	10	0.11485	T	0.65	.	19.0427	0.93008	0.0:1.0:0.0:0.0	.	381;408	Q14CL3;O95259	.;KCNH1_HUMAN	K	408;381	ENSP00000271751:E408K;ENSP00000355974:E381K	ENSP00000271751:E408K	E	-	1	0	KCNH1	209159845	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	5.741000	0.68638	2.748000	0.94277	0.655000	0.94253	GAG		0.547	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
Unknown	0	broad.mit.edu	37	10	135491113	135491113	+	IGR	SNP	G	G	A	rs372931654		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr10:135491113G>A								AL845259.1 (17934 upstream) : None (None downstream)																							GGTCGCCTTCGCCCACACCGG	0.776																																						uc021qbj.1																			0													Homo sapiens double homeobox 2 (DUX2), mRNA.							13.0	15.0	14.0					10																	135491113		1133	2184	3317	SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491113G>A																													10.37:g.135491113G>A						DUX4L3_uc010qvh.1_Missense_Mutation_p.A242T|DUX4L3_uc021qbi.1_5'UTR		NM_012147	NP_036279	F5GZ66	F5GZ66_HUMAN					+									Missense_Mutation	SNP		37																																																																																					0	0.776								
OR4D5	219875	broad.mit.edu	37	11	123810393	123810393	+	Missense_Mutation	SNP	C	C	T	rs373579235		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr11:123810393C>T	ENST00000307033.2	+	1	144	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTGGGAGCTTCGGTTTGTTTT	0.468																																						uc001pzk.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(70-72)Cgg>Tgg		Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.		C	TRP/ARG	0,4404		0,0,2202	96.0	93.0	94.0		70	3.3	0.1	11		94	1,8597	1.2+/-3.3	0,1,4298	no	missense	OR4D5	NM_001001965.1	101	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	24/319	123810393	1,13001	2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810393C>T	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.70C>T	11.37:g.123810393C>T	ENSP00000305970:p.Arg24Trp						p.R24W	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	0	70	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	24					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.70C>T	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803677	0.31869	0.0	1.16E-4	ENSG00000171014	ENST00000307033	T	0.00448	7.38	5.28	3.35	0.38373	.	0.325829	0.22061	N	0.065174	T	0.00637	0.0021	L	0.46741	1.465	0.09310	N	1	D	0.76494	0.999	D	0.64776	0.929	T	0.52689	-0.8542	10	0.87932	D	0	-7.0026	7.5182	0.27612	0.4272:0.4975:0.0:0.0753	.	24	Q8NGN0	OR4D5_HUMAN	W	24	ENSP00000305970:R24W	ENSP00000305970:R24W	R	+	1	2	OR4D5	123315603	0.001000	0.12720	0.099000	0.21106	0.594000	0.36715	0.792000	0.26929	0.557000	0.29117	0.655000	0.94253	CGG		0.468	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965	
PTPN11	5781	broad.mit.edu	37	12	112910837	112910837	+	Missense_Mutation	SNP	C	C	G	rs397507530		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr12:112910837C>G	ENST00000351677.2	+	7	1044	c.846C>G	c.(844-846)atC>atG	p.I282M	PTPN11_ENST00000392597.1_Missense_Mutation_p.I282M	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	282	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		I -> V (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12634870}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.I282M(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ataaaaacaTCCTGCCCTGTA	0.403			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													uc001ttx.3				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		1	Substitution - Missense(1)	p.I282M(2)	central_nervous_system(1)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(844-846)atC>atG		Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.							48.0	52.0	51.0					12																	112910837		2201	4299	6500	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112910837C>G	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.846C>G	12.37:g.112910837C>G	ENSP00000340944:p.Ile282Met					PTPN11_uc001ttw.1_Missense_Mutation_p.I282M	p.I282M	NM_002834	NP_002825	Q06124	PTN11_HUMAN			6	1226	+			282		I -> V (in NS1).	Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.846C>G	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258409	0.59321	.	.	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.85629	-2.01;-2.01	5.7	1.34	0.21922	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	H	0.96333	3.805	0.50313	D	0.99986	D;D	0.76494	0.995;0.999	D;D	0.77004	0.957;0.989	D	0.89881	0.4030	10	0.87932	D	0	.	4.9278	0.13901	0.1408:0.502:0.0:0.3572	.	282;282	Q06124-2;Q06124-3	.;.	M	282	ENSP00000376376:I282M;ENSP00000340944:I282M	ENSP00000340944:I282M	I	+	3	3	PTPN11	111395220	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	0.501000	0.22578	0.455000	0.26910	-0.145000	0.13849	ATC		0.403	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
NRL	4901	broad.mit.edu	37	14	24550696	24550696	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr14:24550696C>G	ENST00000561028.1	-	3	782	c.463G>C	c.(463-465)Gac>Cac	p.D155H	NRL_ENST00000560550.1_Missense_Mutation_p.D16H|NRL_ENST00000396995.1_Missense_Mutation_p.D16H|NRL_ENST00000397002.2_Missense_Mutation_p.D155H|NRL_ENST00000396997.1_Missense_Mutation_p.D155H			P54845	NRL_HUMAN	neural retina leucine zipper	155					positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		AGCGCCTCGTCGCGCCCGCAG	0.711																																						uc001wlo.3																			0				lung(2)	2						c.(463-465)Gac>Cac		Homo sapiens neural retina leucine zipper (NRL), mRNA.							4.0	6.0	5.0					14																	24550696		1719	3613	5332	SO:0001583	missense	4901				response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding	g.chr14:24550696C>G		CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.463G>C	14.37:g.24550696C>G	ENSP00000454062:p.Asp155His					NRL_uc021rrk.1_Missense_Mutation_p.R62P|NRL_uc001wlp.3_Missense_Mutation_p.D155H|NRL_uc001wlq.3_Missense_Mutation_p.D155H	p.D155H	NM_006177	NP_006168	P54845	NRL_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	594	-			155					A8MX14|Q53XD0	Missense_Mutation	SNP	ENST00000561028.1	37	c.463G>C	CCDS9608.1	.	.	.	.	.	.	.	.	.	.	C	37	6.053645	0.97241	.	.	ENSG00000129535	ENST00000397002;ENST00000396997;ENST00000396995	D;D;D	0.93763	-3.28;-3.28;-3.28	5.53	5.53	0.82687	Maf transcription factor (1);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);	0.068309	0.56097	D	0.000033	D	0.96589	0.8887	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96854	0.9627	10	0.72032	D	0.01	-31.5977	16.9431	0.86223	0.0:1.0:0.0:0.0	.	155	P54845	NRL_HUMAN	H	155;155;16	ENSP00000380197:D155H;ENSP00000380193:D155H;ENSP00000380191:D16H	ENSP00000337023:D155H	D	-	1	0	NRL	23620536	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.009000	0.70745	2.615000	0.88500	0.505000	0.49811	GAC		0.711	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415595.1		
BNIP3P1	319138	broad.mit.edu	37	14	28734126	28734126	+	RNA	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr14:28734126G>A	ENST00000550043.1	+	0	531									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		TGGTCAAGTCGGCCGGAAAAT	0.478																																																									0																																																			319138							g.chr14:28734126G>A			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28734126G>A						BC148262 (591701 upstream) : FOXG1 (502161 downstream)																			Missense_Mutation	SNP	ENST00000550043.1	37																																																																																						0.478	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1		
CEP170B	283638	broad.mit.edu	37	14	105360904	105360904	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr14:105360904C>T	ENST00000414716.3	+	18	4624	c.4396C>T	c.(4396-4398)Cgg>Tgg	p.R1466W	CEP170B_ENST00000418279.1_Missense_Mutation_p.R1396W|CEP170B_ENST00000453495.1_Missense_Mutation_p.R1502W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1431W	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	1501						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GGAACTGAGGCGGGTGCAGAA	0.632																																						uc001yps.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14						c.(4291-4293)Cgg>Tgg		Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.							43.0	55.0	51.0					14																	105360904		2057	4183	6240	SO:0001583	missense	283638					cytoplasm|microtubule		g.chr14:105360904C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.4396C>T	14.37:g.105360904C>T	ENSP00000404151:p.Arg1466Trp					KIAA0284_uc010axb.3_Missense_Mutation_p.R1396W|KIAA0284_uc001ypt.3_Missense_Mutation_p.R134W	p.R1431W	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)	16	4597	+		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1501					Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.4291C>T	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590424	0.46214	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279;ENST00000429757	T;T;T;T	0.60299	0.26;0.21;0.2;0.3	4.76	0.118	0.14667	.	0.058952	0.64402	D	0.000006	T	0.70002	0.3174	M	0.73962	2.25	0.39967	D	0.974745	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.984	T	0.70371	-0.4890	10	0.87932	D	0	-14.4513	8.5276	0.33315	0.6062:0.2719:0.1218:0.0	.	1466;1501;1396	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	W	1431;1466;1502;1396;134	ENSP00000451249:R1431W;ENSP00000404151:R1466W;ENSP00000407238:R1502W;ENSP00000415006:R1396W	ENSP00000251181:R118W	R	+	1	2	KIAA0284	104431949	0.990000	0.36364	0.042000	0.18584	0.320000	0.28249	1.820000	0.39032	0.160000	0.19432	-0.315000	0.08773	CGG		0.632	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	
CSPG4	1464	broad.mit.edu	37	15	75982433	75982433	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr15:75982433C>T	ENST00000308508.5	-	3	1065	c.973G>A	c.(973-975)Ggg>Agg	p.G325R		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	325	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCCAGCCCCCCGAGAAGGAGA	0.627																																						uc002baw.3																			0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(973-975)Ggg>Agg		Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.							19.0	17.0	18.0					15																	75982433		2190	4291	6481	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75982433C>T	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.973G>A	15.37:g.75982433C>T	ENSP00000312506:p.Gly325Arg						p.G325R	NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN			2	1066	-			325			Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.973G>A	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.970921	0.74246	.	.	ENSG00000173546	ENST00000308508	D	0.96685	-4.09	5.26	5.26	0.73747	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000002	D	0.97854	0.9295	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98771	1.0728	10	0.87932	D	0	.	17.856	0.88762	0.0:1.0:0.0:0.0	.	325	Q6UVK1	CSPG4_HUMAN	R	325	ENSP00000312506:G325R	ENSP00000312506:G325R	G	-	1	0	CSPG4	73769488	0.975000	0.34042	0.970000	0.41538	0.670000	0.39368	3.734000	0.55037	2.463000	0.83235	0.555000	0.69702	GGG		0.627	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	NM_001897	
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						uc010bky.2																			0											c.(118-120)cTa>cCa		Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																																						645752							g.chr15:78211648A>G																													15.37:g.78211648A>G							p.L40P							10	883	-									Missense_Mutation	SNP	ENST00000565869.1	37	c.119T>C																																																																																					0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1		
AKAP13	11214	broad.mit.edu	37	15	86076975	86076975	+	Missense_Mutation	SNP	C	C	A	rs34574206		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr15:86076975C>A	ENST00000394518.2	+	4	437	c.342C>A	c.(340-342)aaC>aaA	p.N114K	AKAP13_ENST00000361243.2_Missense_Mutation_p.N114K|AKAP13_ENST00000560302.1_Missense_Mutation_p.N114K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	114					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGGCTTTGAACTTTACCCGTT	0.498																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(340-342)aaC>aaA		Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.							101.0	99.0	100.0					15																	86076975		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86076975C>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.342C>A	15.37:g.86076975C>A	ENSP00000378026:p.Asn114Lys					AKAP13_uc002bls.3_Missense_Mutation_p.N114K|AKAP13_uc002blt.1_Missense_Mutation_p.N114K|AKAP13_uc002blu.1_Missense_Mutation_p.N114K	p.N114K	NM_007200	NP_009131	Q12802	AKP13_HUMAN			3	512	+			114					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.342C>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392417	0.62066	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.61510	0.1;0.1	5.97	5.06	0.68205	.	.	.	.	.	T	0.63390	0.2507	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.76575	0.972;0.988;0.92	T	0.66056	-0.6018	9	0.87932	D	0	.	7.2522	0.26156	0.1381:0.7184:0.0:0.1435	.	114;114;114	Q12802;Q12802-2;Q12802-5	AKP13_HUMAN;.;.	K	114;114;113;113	ENSP00000354718:N114K;ENSP00000378026:N114K	ENSP00000354718:N114K	N	+	3	2	AKAP13	83877979	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.445000	0.21677	1.534000	0.49203	-0.140000	0.14226	AAC		0.498	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
FAM169B	283777	broad.mit.edu	37	15	99023998	99023998	+	Silent	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr15:99023998C>T	ENST00000558256.1	-	4	264	c.15G>A	c.(13-15)tcG>tcA	p.S5S	FAM169B_ENST00000332908.4_Silent_p.S5S	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	5										large_intestine(3)|lung(3)|urinary_tract(1)	7						TTTCCCCAAACGACTGAACCT	0.378																																						uc002buk.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(13-15)tcG>tcA		Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.							62.0	58.0	59.0					15																	99023998		1853	4095	5948	SO:0001819	synonymous_variant	283777							g.chr15:99023998C>T		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.15G>A	15.37:g.99023998C>T							p.S5S	NM_182562	NP_872368	Q8N8A8	F169B_HUMAN			3	265	-			5					B5MDL8	Silent	SNP	ENST00000558256.1	37	c.15G>A	CCDS45360.1																																																																																				0.378	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562	
INPP5K	51763	broad.mit.edu	37	17	1417264	1417264	+	Silent	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr17:1417264G>A	ENST00000421807.2	-	2	442	c.54C>T	c.(52-54)gtC>gtT	p.V18V	INPP5K_ENST00000542125.1_Silent_p.V18V|PITPNA-AS1_ENST00000425081.2_RNA|INPP5K_ENST00000320345.6_5'UTR|INPP5K_ENST00000397335.3_Intron|INPP5K_ENST00000406424.4_5'UTR	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	18	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TCCAAGTCACGACGTGTATGC	0.547																																						uc002fsr.3																			0				endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						c.(52-54)gtC>gtT		Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.							94.0	74.0	81.0					17																	1417264		2203	4300	6503	SO:0001819	synonymous_variant	51763				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1417264G>A		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.54C>T	17.37:g.1417264G>A						INPP5K_uc002fss.3_5'UTR|INPP5K_uc002fsq.3_5'UTR|INPP5K_uc010cjr.3_5'UTR|INPP5K_uc010vql.2_Intron|INPP5K_uc010vqm.2_Silent_p.V18V|INPP5K_uc010cjs.2_Silent_p.V18V|LOC100306951_uc021tne.1_5'Flank	p.V18V	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN			1	443	-			18			Catalytic (Potential).		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	c.54C>T	CCDS11004.1																																																																																				0.547	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4		
RPTOR	57521	broad.mit.edu	37	17	78938060	78938060	+	Splice_Site	SNP	A	A	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr17:78938060A>G	ENST00000306801.3	+	34	4301		c.e34-1		CTD-2561B21.5_ENST00000576234.1_RNA|RPTOR_ENST00000544334.2_Splice_Site|CTD-2561B21.3_ENST00000571591.1_RNA|RPTOR_ENST00000575542.1_Splice_Site	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1						cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCTCCTTGCAGCCTCACCTG	0.677																																						uc002jyt.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.e34-2		Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.							102.0	79.0	86.0					17																	78938060		2202	4300	6502	SO:0001630	splice_region_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78938060A>G		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3940-1A>G	17.37:g.78938060A>G						RPTOR_uc010wug.1_Splice_Site_p.P1156_splice|RPTOR_uc002jyu.1_Splice_Site_p.P207_splice	p.P1314_splice	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			34	4745	+			1314					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Splice_Site	SNP	ENST00000306801.3	37	c.3940_splice	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	A	16.31	3.088461	0.55968	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8168	0.57669	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPTOR	76552655	1.000000	0.71417	0.996000	0.52242	0.459000	0.32528	8.401000	0.90202	1.864000	0.54056	0.482000	0.46254	.		0.677	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	Intron
DSC2	1824	broad.mit.edu	37	18	28671091	28671091	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr18:28671091G>T	ENST00000280904.6	-	4	817	c.374C>A	c.(373-375)aCt>aAt	p.T125N	DSC2_ENST00000251081.6_Missense_Mutation_p.T125N	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	125					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTTTTCTTTAGTATGTCTTTT	0.368																																						uc002kwl.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(373-375)aCt>aAt		Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.							100.0	93.0	96.0					18																	28671091		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28671091G>T	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.374C>A	18.37:g.28671091G>T	ENSP00000280904:p.Thr125Asn					DSC2_uc002kwk.4_Missense_Mutation_p.T125N	p.T125N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		3	828	-			125						Missense_Mutation	SNP	ENST00000280904.6	37	c.374C>A	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723272	0.30503	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000399347	T;T	0.55052	0.54;0.54	5.84	3.72	0.42706	Cadherin-like (1);	1.969230	0.03081	N	0.158564	T	0.47911	0.1471	L	0.36672	1.1	0.09310	N	1	B;B	0.28512	0.042;0.214	B;B	0.24848	0.031;0.056	T	0.40683	-0.9550	10	0.46703	T	0.11	.	11.2529	0.49037	0.0784:0.0:0.7899:0.1316	.	125;125	Q02487;Q02487-2	DSC2_HUMAN;.	N	125;125;138	ENSP00000251081:T125N;ENSP00000280904:T125N	ENSP00000251081:T125N	T	-	2	0	DSC2	26925089	0.009000	0.17119	0.284000	0.24805	0.080000	0.17528	1.589000	0.36644	1.448000	0.47680	0.655000	0.94253	ACT		0.368	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	
ONECUT2	9480	broad.mit.edu	37	18	55143848	55143848	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr18:55143848G>A	ENST00000491143.2	+	2	1440	c.1408G>A	c.(1408-1410)Gtc>Atc	p.V470I		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	470					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	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)	p.V470I(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GCTCACAACCGTCAGCAACTT	0.587																																						uc002lgo.3																			2	Substitution - Missense(2)	p.V470I(4)	kidney(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(1408-1410)Gtc>Atc		Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.							57.0	64.0	62.0					18																	55143848		2109	4254	6363	SO:0001583	missense	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55143848G>A	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1408G>A	18.37:g.55143848G>A	ENSP00000419185:p.Val470Ile						p.V470I	NM_004852	NP_004843	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	1440	+		Colorectal(73;0.234)	470						Missense_Mutation	SNP	ENST00000491143.2	37	c.1408G>A	CCDS42440.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.007453|5.007453	0.93287|0.93287	.|.	.|.	ENSG00000119547|ENSG00000119547	ENST00000481727|ENST00000491143;ENST00000262095	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.|0.159557	.|0.39909	.|N	.|0.001234	D|D	0.82540|0.82540	0.5059|0.5059	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	.|D	.|0.54601	.|0.967	.|D	.|0.77004	.|0.989	T|T	0.82610|0.82610	-0.0372|-0.0372	5|9	.|0.87932	.|D	.|0	-21.6632|-21.6632	20.1323|20.1323	0.98003|0.98003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|470	.|O95948	.|ONEC2_HUMAN	H|I	98|451;470	.|.	.|ENSP00000262095:V470I	R|V	+|+	2|1	0|0	ONECUT2|ONECUT2	53294846|53294846	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.995000|0.995000	0.86356|0.86356	9.476000|9.476000	0.97823|0.97823	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	CGT|GTC		0.587	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3		
SERPINB13	5275	broad.mit.edu	37	18	61256912	61256912	+	Missense_Mutation	SNP	C	C	T	rs61733412	byFrequency	TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr18:61256912C>T	ENST00000344731.5	+	3	290	c.188C>T	c.(187-189)aCg>aTg	p.T63M	SERPINB13_ENST00000269489.5_Missense_Mutation_p.T63M	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	63					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GAAAAAGAGACGAAGAGCTCA	0.418													C|||	4	0.000798722	0.0023	0.0	5008	,	,		17214	0.0		0.001	False		,,,				2504	0.0					uc010xep.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(187-189)aCg>aTg		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.		C	MET/THR	3,4403	6.2+/-15.9	0,3,2200	71.0	62.0	65.0		188	-1.0	0.0	18	dbSNP_129	65	4,8596	3.7+/-12.6	0,4,4296	yes	missense	SERPINB13	NM_012397.3	81	0,7,6496	TT,TC,CC		0.0465,0.0681,0.0538	benign	63/392	61256912	7,12999	2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61256912C>T	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.188C>T	18.37:g.61256912C>T	ENSP00000341584:p.Thr63Met					SERPINB13_uc002ljc.3_Missense_Mutation_p.T63M|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_5'UTR|SERPINB13_uc010xer.2_5'UTR	p.T63M	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN			2	356	+			63					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.188C>T	CCDS11985.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	3.077	-0.189746	0.06299	6.81E-4	4.65E-4	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731;ENST00000415733	T;T;D;D	0.84589	-1.01;2.75;-1.64;-1.87	4.33	-0.973	0.10297	Serpin domain (3);	6.420240	0.00166	N	0.000012	D	0.82559	0.5063	L	0.53729	1.69	0.09310	N	1	B;B	0.33807	0.426;0.036	B;B	0.39068	0.289;0.022	T	0.66126	-0.6001	10	0.54805	T	0.06	.	2.8988	0.05699	0.3294:0.3802:0.0:0.2904	rs61733412	63;63	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	M	93;63;63;63;42	ENSP00000388300:T93M;ENSP00000269489:T63M;ENSP00000341584:T63M;ENSP00000391156:T42M	ENSP00000269489:T63M	T	+	2	0	SERPINB13	59407892	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.143000	0.10296	-0.029000	0.13827	-0.126000	0.14955	ACG		0.418	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397	
ZNF407	55628	broad.mit.edu	37	18	72775723	72775723	+	Missense_Mutation	SNP	G	G	A	rs546961134		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr18:72775723G>A	ENST00000299687.5	+	8	6046	c.6046G>A	c.(6046-6048)Gcc>Acc	p.A2016T		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2016					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAGGCCCGGCGCCAAAGACGT	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15254	0.0		0.0	False		,,,				2504	0.0					uc002llw.2																			0				central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67						c.(6046-6048)Gcc>Acc		Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.							17.0	23.0	21.0					18																	72775723		2094	4209	6303	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72775723G>A	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6046G>A	18.37:g.72775723G>A	ENSP00000299687:p.Ala2016Thr						p.A2016T	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	7	6099	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	2016					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.6046G>A	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	G	5.777	0.327690	0.10956	.	.	ENSG00000215421	ENST00000299687	T	0.09538	2.97	4.7	2.79	0.32731	.	.	.	.	.	T	0.05823	0.0152	N	0.03608	-0.345	0.21782	N	0.999542	B	0.20988	0.05	B	0.14023	0.01	T	0.42498	-0.9448	9	0.34782	T	0.22	.	14.2177	0.65805	0.0:0.7125:0.2875:0.0	.	2016	Q9C0G0	ZN407_HUMAN	T	2016	ENSP00000299687:A2016T	ENSP00000299687:A2016T	A	+	1	0	ZNF407	70904711	0.015000	0.18098	0.002000	0.10522	0.021000	0.10359	2.667000	0.46808	-1.327000	0.02264	0.561000	0.74099	GCC		0.672	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
PLIN4	729359	broad.mit.edu	37	19	4511532	4511532	+	Missense_Mutation	SNP	C	C	T	rs200600446	byFrequency	TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr19:4511532C>T	ENST00000301286.3	-	3	2397	c.2398G>A	c.(2398-2400)Gtc>Atc	p.V800I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	800	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCCATCTGGACGGCCCCCTTG	0.612													C|||	6	0.00119808	0.003	0.0	5008	,	,		28525	0.0		0.002	False		,,,				2504	0.0					uc002mar.1																			0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2398-2400)Gtc>Atc		Homo sapiens perilipin 4 (PLIN4), mRNA.							121.0	157.0	145.0					19																	4511532		2120	4235	6355	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4511532C>T	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2398G>A	19.37:g.4511532C>T	ENSP00000301286:p.Val800Ile					PLIN4_uc010dub.1_5'Flank	p.V800I	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			2	2398	-			800			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.2398G>A	CCDS45927.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	11.15	1.552824	0.27739	.	.	ENSG00000167676	ENST00000301286	T	0.03689	3.84	4.58	-2.14	0.07123	.	0.501670	0.14664	N	0.305780	T	0.01976	0.0062	L	0.33485	1.01	0.09310	N	1	D	0.54964	0.969	P	0.45377	0.478	T	0.45396	-0.9264	10	0.16420	T	0.52	-19.9498	5.9659	0.19325	0.0:0.3351:0.1419:0.523	.	800	Q96Q06	PLIN4_HUMAN	I	800	ENSP00000301286:V800I	ENSP00000301286:V800I	V	-	1	0	PLIN4	4462532	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.201000	0.17276	-0.461000	0.06993	-1.884000	0.00543	GTC		0.612	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901	
KHSRP	8570	broad.mit.edu	37	19	6418513	6418513	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr19:6418513C>T	ENST00000398148.3	-	9	952	c.860G>A	c.(859-861)gGg>gAg	p.G287E	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	287	Gly-rich.|KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTAAGGATCCCCAATGATGCG	0.567																																					Colon(55;593 1006 2067 9135 22980)	uc002mer.4																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						c.(859-861)gGg>gAg		Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.							97.0	94.0	95.0					19																	6418513		2050	4191	6241	SO:0001583	missense	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6418513C>T	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.860G>A	19.37:g.6418513C>T	ENSP00000381216:p.Gly287Glu					KHSRP_uc021unp.1_5'Flank	p.G287E	NM_003685	NP_003676	Q92945	FUBP2_HUMAN			8	970	-			287			Gly-rich.|KH 2.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.860G>A	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661941	0.67700	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	T	0.69435	-0.4	5.22	5.22	0.72569	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.86657	0.5985	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90252	0.4294	10	0.87932	D	0	.	17.5747	0.87946	0.0:1.0:0.0:0.0	.	287	Q92945	FUBP2_HUMAN	E	287;287;243	ENSP00000381216:G287E	ENSP00000201886:G287E	G	-	2	0	KHSRP	6369513	1.000000	0.71417	0.997000	0.53966	0.800000	0.45204	7.580000	0.82523	2.424000	0.82194	0.563000	0.77884	GGG		0.567	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1		
CYP4F11	57834	broad.mit.edu	37	19	16024697	16024697	+	Missense_Mutation	SNP	C	C	T	rs201156268	byFrequency	TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr19:16024697C>T	ENST00000402119.4	-	12	1846	c.1420G>A	c.(1420-1422)Gcc>Acc	p.A474T	CYP4F11_ENST00000591841.1_Missense_Mutation_p.A149T|CYP4F11_ENST00000326742.8_Missense_Mutation_p.R452H|CYP4F11_ENST00000248041.8_Missense_Mutation_p.A474T	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TCAGCCATGGCGAACGCCTGC	0.617													.|||	3	0.000599042	0.0	0.0	5008	,	,		16121	0.002		0.0	False		,,,				2504	0.001					uc002nbu.2																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(1420-1422)Gcc>Acc		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.							55.0	48.0	50.0					19																	16024697		2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16024697C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1420G>A	19.37:g.16024697C>T	ENSP00000384588:p.Ala474Thr					CYP4F11_uc010eab.1_Missense_Mutation_p.R452H|CYP4F11_uc002nbt.2_Missense_Mutation_p.A474T	p.A474T	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN			12	1456	-			474						Missense_Mutation	SNP	ENST00000402119.4	37	c.1420G>A	CCDS12337.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	c|c	17.15|17.15	3.317088|3.317088	0.60524|0.60524	.|.	.|.	ENSG00000171903|ENSG00000171903	ENST00000402119;ENST00000248041|ENST00000326742	D;D|T	0.87491|0.60797	-2.26;-2.26|0.16	2.74|2.74	2.74|2.74	0.32292|0.32292	.|.	0.000000|.	0.64402|.	U|.	0.000003|.	T|T	0.79106|0.79106	0.4390|0.4390	H|H	0.97315|0.97315	3.98|3.98	0.58432|0.58432	D|D	0.999996|0.999996	D|D	0.76494|0.76494	0.999|0.999	D|P	0.77004|0.56343	0.989|0.796	D|D	0.85443|0.85443	0.1156|0.1156	10|9	0.87932|0.87932	D|D	0|0	.|.	11.2185|11.2185	0.48840|0.48840	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	474|452	Q9HBI6|F8W978	CP4FB_HUMAN|.	T|H	474|452	ENSP00000384588:A474T;ENSP00000248041:A474T|ENSP00000319859:R452H	ENSP00000248041:A474T|ENSP00000319859:R452H	A|R	-|-	1|2	0|0	CYP4F11|CYP4F11	15885697|15885697	1.000000|1.000000	0.71417|0.71417	0.927000|0.927000	0.36925|0.36925	0.397000|0.397000	0.30659|0.30659	4.972000|4.972000	0.63756|0.63756	1.513000|1.513000	0.48852|0.48852	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.617	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187	
LILRB4	11006	broad.mit.edu	37	19	55175475	55175475	+	Missense_Mutation	SNP	C	C	A	rs201116709		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr19:55175475C>A	ENST00000391736.1	+	5	649	c.334C>A	c.(334-336)Ccc>Acc	p.P112T	LILRB4_ENST00000430952.2_Missense_Mutation_p.P112T|LILRB4_ENST00000391734.3_Missense_Mutation_p.P112T|LILRB4_ENST00000270452.2_Missense_Mutation_p.P112T|LILRB4_ENST00000391733.3_Missense_Mutation_p.P112T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	112	Ig-like C2-type 1.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GCCCAGTGACCCCCTGGAGCT	0.602																																						uc002qgp.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(334-336)Ccc>Acc		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.							149.0	134.0	139.0					19																	55175475		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175475C>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.334C>A	19.37:g.55175475C>A	ENSP00000375616:p.Pro112Thr					LILRB4_uc002qgo.1_Missense_Mutation_p.P153T|LILRB4_uc002qgq.3_Missense_Mutation_p.P112T|LILRB4_uc010ers.1_Missense_Mutation_p.P25T|LILRB4_uc010ert.3_Missense_Mutation_p.P153T|LILRB4_uc010eru.3_Missense_Mutation_p.P141T	p.P112T	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	2	696	+			112			Ig-like C2-type 1.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.334C>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	5.784	0.328999	0.10956	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62;2.62	2.43	-1.96	0.07525	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.18923	0.0454	M	0.80508	2.5	0.09310	N	0.999994	B;P;B;P;P	0.36874	0.373;0.572;0.322;0.478;0.534	B;B;B;B;B	0.41510	0.359;0.359;0.242;0.215;0.22	T	0.22173	-1.0224	9	0.87932	D	0	.	4.5922	0.12313	0.0:0.4185:0.4313:0.1501	.	112;112;112;112;112	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	T	112	ENSP00000375616:P112T;ENSP00000270452:P112T;ENSP00000408995:P112T;ENSP00000375614:P112T;ENSP00000375613:P112T;ENSP00000401962:P112T	ENSP00000270452:P112T	P	+	1	0	LILRB4	59867287	0.001000	0.12720	0.238000	0.24106	0.049000	0.14656	-0.093000	0.11111	-0.471000	0.06891	0.407000	0.27541	CCC		0.602	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3		
FAM98A	25940	broad.mit.edu	37	2	33813426	33813426	+	Silent	SNP	T	T	C	rs561820764		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr2:33813426T>C	ENST00000238823.8	-	4	638	c.498A>G	c.(496-498)caA>caG	p.Q166Q	FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000403368.1_Silent_p.Q166Q			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	166							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CGCTGAAGAATTGGAACATAG	0.363																																						uc002rpa.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24						c.(496-498)caA>caG		Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.							173.0	175.0	174.0					2																	33813426		2203	4300	6503	SO:0001819	synonymous_variant	25940							g.chr2:33813426T>C		CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.498A>G	2.37:g.33813426T>C						FAM98A_uc010yne.1_Intron|FAM98A_uc010ynd.1_5'Flank|FAM98A_uc002roz.1_Silent_p.Q43Q	p.Q166Q	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN			3	572	-	all_hematologic(175;0.115)		166					B2RNA2|Q9Y3Y6	Silent	SNP	ENST00000238823.8	37	c.498A>G	CCDS33179.1																																																																																				0.363	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325457.2	NM_015475	
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G	rs17857355	byFrequency	TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCAAGGTGGGCACTTGATGTC	0.612																																						uc002tkh.3																			0											c.(616-618)Cac>Gac		Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																																						375260							g.chr2:114355998C>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355998C>G						WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript	p.H206D							4	674	+									Missense_Mutation	SNP	ENST00000538033.2	37	c.616C>G																																																																																					0.612	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
TTN	7273	broad.mit.edu	37	2	179542567	179542567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr2:179542567delC	ENST00000591111.1	-	144	33345	c.33121delG	c.(33121-33123)gttfs	p.V11041fs	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Frame_Shift_Del_p.V11358fs|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.V10114fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	10180	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCAGGAACAATTTCTTCT	0.413																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30340-30342)gttfs		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							92.0	92.0	92.0					2																	179542567		1842	4085	5927	SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179542567delC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33121delG	2.37:g.179542567delC	ENSP00000465570:p.Val11041fs					TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.V6775fs|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	p.V10114fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		142	30565	-			11041			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.30340delG																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC108	255101	broad.mit.edu	37	2	219870881	219870883	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr2:219870881_219870883delGGG	ENST00000341552.5	-	31	4865_4867	c.4782_4784delCCC	c.(4780-4785)acccca>aca	p.P1595del	CCDC108_ENST00000453220.1_In_Frame_Del_p.P1595del|CCDC108_ENST00000441968.1_In_Frame_Del_p.P1595del|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1595						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCTCCTTTGGGGTCTGCAGTT	0.626																																						uc002vjl.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4780-4785)acccca>aca		Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	255101					integral to membrane	structural molecule activity	g.chr2:219870881_219870883delGGG	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4782_4784delCCC	2.37:g.219870881_219870883delGGG	ENSP00000340776:p.Pro1595del						p.P1595del	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	30	4866_4868	-		Renal(207;0.0915)	1595					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	In_Frame_Del	DEL	ENST00000341552.5	37	c.4782_4784delCCC	CCDS2430.2																																																																																				0.626	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302	
COL6A3	1293	broad.mit.edu	37	2	238253186	238253186	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr2:238253186G>A	ENST00000295550.4	-	36	7927	c.7475C>T	c.(7474-7476)tCg>tTg	p.S2492L	COL6A3_ENST00000347401.3_Missense_Mutation_p.S2291L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2286L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2292L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1885L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S2286L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2492	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCCACAAACGACATGGCAGT	0.507																																						uc002vwl.2																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7474-7476)tCg>tTg		Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.							107.0	97.0	101.0					2																	238253186		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238253186G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7475C>T	2.37:g.238253186G>A	ENSP00000295550:p.Ser2492Leu					COL6A3_uc002vwo.2_Missense_Mutation_p.S2286L|COL6A3_uc010znj.1_Missense_Mutation_p.S1885L|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.S313L	p.S2492L	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	35	7760	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2492			Nonhelical region.|VWFA 11.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7475C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.785269	0.31593	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	4.77	4.77	0.60923	von Willebrand factor, type A (3);	0.132879	0.34314	N	0.004071	D	0.87981	0.6315	L	0.43152	1.355	0.41757	D	0.989699	D;D;D;D	0.89917	0.98;0.958;0.975;1.0	P;B;B;D	0.74023	0.532;0.278;0.396;0.982	D	0.88618	0.3161	10	0.51188	T	0.08	.	18.1871	0.89796	0.0:0.0:1.0:0.0	.	1885;1885;2286;2492	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	L	2492;2291;2286;1885;2286;2292	ENSP00000295550:S2492L;ENSP00000315609:S2291L;ENSP00000315873:S2286L;ENSP00000418285:S1885L;ENSP00000386844:S2286L;ENSP00000295546:S2292L	ENSP00000295550:S2492L	S	-	2	0	COL6A3	237917925	1.000000	0.71417	0.940000	0.37924	0.864000	0.49448	4.426000	0.59882	2.339000	0.79563	0.655000	0.94253	TCG		0.507	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
PDYN	5173	broad.mit.edu	37	20	1961118	1961118	+	Missense_Mutation	SNP	G	G	A	rs575606358		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr20:1961118G>A	ENST00000217305.2	-	4	841	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	PDYN_ENST00000539905.1_Missense_Mutation_p.R206C|PDYN_ENST00000540134.1_Missense_Mutation_p.R206C|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	206					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCCCATAGCGTTTGTACAGG	0.592																																						uc010gaj.3																			0		p.R206H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(616-618)Cgc>Tgc		Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.							104.0	114.0	111.0					20																	1961118		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961118G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.616C>T	20.37:g.1961118G>A	ENSP00000217305:p.Arg206Cys					AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.R206C|PDYN_uc021vzt.1_Missense_Mutation_p.R206C|PDYN_uc021vzu.1_Missense_Mutation_p.R206C|PDYN_uc002wfv.3_Missense_Mutation_p.R206C	p.R206C	NM_001190892	NP_077722	P01213	PDYN_HUMAN			2	858	-			206					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.616C>T	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161588	0.78226	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.90620	-2.7;-2.7;-2.7	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.96043	0.8711	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96660	0.9488	10	0.87932	D	0	-19.7087	15.8394	0.78835	0.0:0.0:1.0:0.0	.	206	P01213	PDYN_HUMAN	C	206	ENSP00000440185:R206C;ENSP00000442259:R206C;ENSP00000217305:R206C	ENSP00000217305:R206C	R	-	1	0	PDYN	1909118	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.677000	0.61634	2.603000	0.88011	0.313000	0.20887	CGC		0.592	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2		
RBPJL	11317	broad.mit.edu	37	20	43940278	43940278	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr20:43940278G>A	ENST00000343694.3	+	4	379	c.307G>A	c.(307-309)Gtg>Atg	p.V103M	RBPJL_ENST00000372741.3_Missense_Mutation_p.V103M|RBPJL_ENST00000372743.1_Missense_Mutation_p.V103M	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	103					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				TGGCTGGAGGGTGAAGCCAGG	0.642											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xns.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(307-309)Gtg>Atg		Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.							55.0	48.0	51.0					20																	43940278		2203	4300	6503	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43940278G>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.307G>A	20.37:g.43940278G>A	ENSP00000341243:p.Val103Met		OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	RBPJL_uc002xnt.3_Missense_Mutation_p.V103M	p.V103M	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN			3	379	+		Myeloproliferative disorder(115;0.0122)	103					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.307G>A	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536160	0.64972	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	D;D;D	0.82711	-1.64;-1.64;-1.64	5.11	4.12	0.48240	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.434585	0.22959	N	0.053572	T	0.68568	0.3015	N	0.11927	0.2	0.34258	D	0.67953	P;P	0.50369	0.934;0.884	P;P	0.48030	0.564;0.564	T	0.71185	-0.4667	10	0.30078	T	0.28	-22.2302	3.497	0.07658	0.0933:0.1766:0.5679:0.1622	.	103;103	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	M	103	ENSP00000361828:V103M;ENSP00000361826:V103M;ENSP00000341243:V103M	ENSP00000341243:V103M	V	+	1	0	RBPJL	43373692	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	0.590000	0.23954	2.659000	0.90383	0.561000	0.74099	GTG		0.642	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276	
NFATC2	4773	broad.mit.edu	37	20	50051820	50051820	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr20:50051820C>G	ENST00000396009.3	-	8	2156	c.1937G>C	c.(1936-1938)cGg>cCg	p.R646P	NFATC2_ENST00000610033.1_Missense_Mutation_p.R427P|NFATC2_ENST00000609507.1_Missense_Mutation_p.R427P|NFATC2_ENST00000414705.1_Missense_Mutation_p.R626P|NFATC2_ENST00000371564.3_Missense_Mutation_p.R646P|NFATC2_ENST00000609943.1_Missense_Mutation_p.R626P	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	646					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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 negative regulation of transcription (GO:0001078)|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)	p.R646L(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ATGCTTGTTCCGATATTCAGG	0.443																																						uc002xwd.3																		EWSR1/NFATC2(9)	1	Substitution - Missense(1)	p.R646L(2)	lung(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1936-1938)cGg>cCg		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.							233.0	216.0	222.0					20																	50051820		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50051820C>G	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1937G>C	20.37:g.50051820C>G	ENSP00000379330:p.Arg646Pro					NFATC2_uc002xwc.3_Missense_Mutation_p.R646P|NFATC2_uc010zyv.2_Missense_Mutation_p.R427P|NFATC2_uc010zyw.2_Missense_Mutation_p.R427P|NFATC2_uc002xwe.3_Missense_Mutation_p.R626P|NFATC2_uc010zyx.2_Missense_Mutation_p.R626P|NFATC2_uc010zyy.2_Missense_Mutation_p.R427P|NFATC2_uc010zyz.2_Missense_Mutation_p.R427P	p.R646P	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			7	2157	-	Hepatocellular(150;0.248)		646					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.1937G>C	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213282	0.79352	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.75477	-0.94;-0.94;-0.94	5.06	5.06	0.68205	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85004	0.5598	M	0.61703	1.905	0.49915	D	0.999838	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.989;0.931;0.992;0.995	D	0.86492	0.1798	10	0.87932	D	0	-26.3836	18.7988	0.92007	0.0:1.0:0.0:0.0	.	626;626;646;646	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	P	646;646;626	ENSP00000360619:R646P;ENSP00000379330:R646P;ENSP00000396471:R626P	ENSP00000360619:R646P	R	-	2	0	NFATC2	49485227	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	3.764000	0.55264	2.511000	0.84671	0.655000	0.94253	CGG		0.443	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	
POTED	317754	broad.mit.edu	37	21	14982933	14982933	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr21:14982933C>A	ENST00000299443.5	+	1	436	c.384C>A	c.(382-384)ttC>ttA	p.F128L		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	128						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ACAGCGCCTTCATGGAGCCGA	0.597																																						uc002yjb.1																			0				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						c.(382-384)ttC>ttA		Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.							35.0	53.0	49.0					21																	14982933		820	3154	3974	SO:0001583	missense	317754					plasma membrane		g.chr21:14982933C>A	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.384C>A	21.37:g.14982933C>A	ENSP00000299443:p.Phe128Leu						p.F128L	NM_174981	NP_778146	Q86YR6	POTED_HUMAN			0	436	+			128					C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	c.384C>A	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.007590	0.35415	.	.	ENSG00000166351	ENST00000299443	T	0.48522	0.81	1.07	1.07	0.20283	.	.	.	.	.	T	0.41926	0.1180	L	0.53249	1.67	0.09310	N	1	B	0.26041	0.14	B	0.32805	0.153	T	0.43814	-0.9368	9	0.52906	T	0.07	.	5.5401	0.17033	0.0:1.0:0.0:0.0	.	128	Q86YR6	POTED_HUMAN	L	128	ENSP00000299443:F128L	ENSP00000299443:F128L	F	+	3	2	POTED	13904804	0.464000	0.25807	0.001000	0.08648	0.011000	0.07611	0.628000	0.24522	0.889000	0.36185	0.184000	0.17185	TTC		0.597	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981	
KRTAP13-1	140258	broad.mit.edu	37	21	31768833	31768833	+	Silent	SNP	C	C	T	rs565845316		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr21:31768833C>T	ENST00000355459.2	+	1	442	c.429C>T	c.(427-429)ggC>ggT	p.G143G		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	143						intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGGCTATGGCGTTGGATTCT	0.542																																						uc002yoa.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(427-429)ggC>ggT		Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.							61.0	57.0	58.0					21																	31768833		2203	4300	6503	SO:0001819	synonymous_variant	140258					intermediate filament		g.chr21:31768833C>T	AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.429C>T	21.37:g.31768833C>T							p.G143G	NM_181599	NP_853630	Q8IUC0	KR131_HUMAN			0	442	+			143					Q14D20|Q3LI79	Silent	SNP	ENST00000355459.2	37	c.429C>T	CCDS13590.2																																																																																				0.542	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128252.3		
SLC4A7	9497	broad.mit.edu	37	3	27418278	27418278	+	Missense_Mutation	SNP	C	C	T	rs200768562		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:27418278C>T	ENST00000295736.5	-	25	3692	c.3622G>A	c.(3622-3624)Gtg>Atg	p.V1208M	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000437179.1_Missense_Mutation_p.V1089M|SLC4A7_ENST00000440156.1_Missense_Mutation_p.V1240M|SLC4A7_ENST00000428386.1_Missense_Mutation_p.V1084M|SLC4A7_ENST00000455077.1_Missense_Mutation_p.V1125M|SLC4A7_ENST00000446700.1_Missense_Mutation_p.V1200M|SLC4A7_ENST00000445684.1_Missense_Mutation_p.V1204M|SLC4A7_ENST00000388777.4_Missense_Mutation_p.V794M|SLC4A7_ENST00000454389.1_Missense_Mutation_p.V1253M|SLC4A7_ENST00000435667.2_Missense_Mutation_p.V1129M	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1208					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TCAGCATCCACGTATTTCTTT	0.259													C|||	1	0.000199681	0.0	0.0	5008	,	,		13477	0.0		0.0	False		,,,				2504	0.001					uc011aww.2																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(3757-3759)Gtg>Atg		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.							98.0	101.0	100.0					3																	27418278		2203	4298	6501	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27418278C>T	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3622G>A	3.37:g.27418278C>T	ENSP00000295736:p.Val1208Met					SLC4A7_uc011awx.2_Missense_Mutation_p.V1240M|SLC4A7_uc021wun.1_Missense_Mutation_p.V1129M|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.V1200M|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.V1089M|SLC4A7_uc011axb.2_Missense_Mutation_p.V1204M|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.V1125M|SLC4A7_uc010hfl.3_Missense_Mutation_p.V794M|SLC4A7_uc003cdv.3_Missense_Mutation_p.V1208M|SLC4A7_uc003cdw.3_Missense_Mutation_p.V1084M	p.V1253M	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			25	3978	-			1208					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.3757G>A	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	8.475	0.858459	0.17178	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777	D;T;T;T;T;T;T;T;T;T;D	0.81579	-1.51;-1.25;-1.27;-1.19;-1.27;-1.27;-1.32;-1.22;-1.33;-1.22;-1.51	5.8	-4.04	0.04010	.	0.710876	0.14196	N	0.335037	T	0.52869	0.1761	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.19200	0.022;0.005;0.022;0.006;0.019;0.011;0.008;0.022;0.034	B;B;B;B;B;B;B;B;B	0.17433	0.004;0.003;0.004;0.005;0.014;0.018;0.007;0.004;0.014	T	0.08229	-1.0732	10	0.30854	T	0.27	.	3.0237	0.06084	0.1385:0.2998:0.417:0.1446	.	1204;1089;1200;1240;1253;794;1084;1208;1125	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	M	795;1208;1084;1253;1240;1089;1200;1125;1204;1129;794	ENSP00000411031:V795M;ENSP00000295736:V1208M;ENSP00000416368:V1084M;ENSP00000390394:V1253M;ENSP00000414797:V1240M;ENSP00000394252:V1089M;ENSP00000406605:V1200M;ENSP00000407382:V1125M;ENSP00000406804:V1204M;ENSP00000395336:V1129M;ENSP00000373429:V794M	ENSP00000295736:V1208M	V	-	1	0	SLC4A7	27393282	1.000000	0.71417	0.931000	0.37212	0.819000	0.46315	1.325000	0.33724	-0.567000	0.06046	-0.218000	0.12543	GTG		0.259	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
PXK	54899	broad.mit.edu	37	3	58385105	58385105	+	Splice_Site	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:58385105G>A	ENST00000356151.2	+	12	1290		c.e12+1		PXK_ENST00000484288.1_Splice_Site|PXK_ENST00000383715.4_Splice_Site|PXK_ENST00000536660.1_Splice_Site|PXK_ENST00000463280.1_Splice_Site|PXK_ENST00000383716.3_Splice_Site|PXK_ENST00000479241.1_Splice_Site|PXK_ENST00000302779.5_Splice_Site	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TACAGATGCCGTAAGTCAATC	0.458																																						uc003djz.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.e12+1		Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.							136.0	117.0	123.0					3																	58385105		2203	4300	6503	SO:0001630	splice_region_variant	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58385105G>A	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1181+1G>A	3.37:g.58385105G>A						PXK_uc003djx.1_Splice_Site_p.P394_splice|PXK_uc003dka.1_Splice_Site_p.P394_splice|PXK_uc003dkb.1_Splice_Site_p.P311_splice|PXK_uc003dkc.1_Splice_Site_p.P377_splice|PXK_uc011bfe.1_Splice_Site_p.P361_splice|PXK_uc010hnj.1_Splice_Site_p.P361_splice|PXK_uc003dkd.1_Splice_Site_p.P257_splice|PXK_uc010hnk.1_Splice_Site_p.P168_splice	p.P394_splice	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	12	1280	+			394			Protein kinase.			Splice_Site	SNP	ENST00000356151.2	37	c.1181_splice	CCDS2889.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825620	0.90955	.	.	ENSG00000168297	ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750;ENST00000479134	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PXK	58360145	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.117000	0.89575	2.941000	0.99782	0.655000	0.94253	.		0.458	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771	Intron
GPR15	2838	broad.mit.edu	37	3	98251271	98251271	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:98251271T>A	ENST00000284311.3	+	1	529	c.394T>A	c.(394-396)Tac>Aac	p.Y132N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	132					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)		TGTTGACCGCTACCTGGCCAT	0.537																																						uc011bgy.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(394-396)Tac>Aac		Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.							71.0	61.0	65.0					3																	98251271		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251271T>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.394T>A	3.37:g.98251271T>A	ENSP00000284311:p.Tyr132Asn						p.Y132N	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	0	394	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	132					Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.394T>A	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.649716	0.67358	.	.	ENSG00000154165	ENST00000284311	D	0.88354	-2.37	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000265	D	0.96134	0.8740	H	0.96604	3.85	0.46317	D	0.998988	D	0.89917	1.0	D	0.91635	0.999	D	0.97060	0.9770	10	0.87932	D	0	-20.7676	12.681	0.56922	0.0:0.0:0.0:1.0	.	132	P49685	GPR15_HUMAN	N	132	ENSP00000284311:Y132N	ENSP00000284311:Y132N	Y	+	1	0	GPR15	99733961	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.893000	0.63199	2.165000	0.68154	0.482000	0.46254	TAC		0.537	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1		
COL6A6	131873	broad.mit.edu	37	3	130287203	130287203	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:130287203G>A	ENST00000358511.6	+	5	2187	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R719Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	719	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAGGGCGCCCGGCCCAACATC	0.502																																						uc010htl.3																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(2155-2157)cGg>cAg		Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.							85.0	87.0	86.0					3																	130287203		1925	4124	6049	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130287203G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2156G>A	3.37:g.130287203G>A	ENSP00000351310:p.Arg719Gln						p.R719Q	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			4	2187	+			719			Nonhelical region.|VWFA 4.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2156G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631797	0.87660	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.87966	-2.32;-2.32	5.51	5.51	0.81932	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000060	D	0.96393	0.8823	H	0.97962	4.115	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.97799	1.0243	10	0.87932	D	0	.	19.0015	0.92836	0.0:0.0:1.0:0.0	.	719	A6NMZ7	CO6A6_HUMAN	Q	719	ENSP00000351310:R719Q;ENSP00000399236:R719Q	ENSP00000351310:R719Q	R	+	2	0	COL6A6	131769893	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	9.529000	0.98049	2.582000	0.87167	0.655000	0.94253	CGG		0.502	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
HLTF	6596	broad.mit.edu	37	3	148802611	148802611	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:148802611G>C	ENST00000310053.5	-	2	279	c.86C>G	c.(85-87)tCa>tGa	p.S29*	HLTF_ENST00000494055.1_Nonsense_Mutation_p.S29*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.S29*|HLTF-AS1_ENST00000492461.1_RNA|HLTF_ENST00000465259.1_Nonsense_Mutation_p.S29*|HLTF_ENST00000481663.1_5'UTR	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	29					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGTTGGATATGAGAGGCGTGG	0.358																																						uc003ewq.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(85-87)tCa>tGa		Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.							92.0	95.0	94.0					3																	148802611		2203	4300	6503	SO:0001587	stop_gained	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148802611G>C	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.86C>G	3.37:g.148802611G>C	ENSP00000308944:p.Ser29*					HLTF_uc003ewr.1_Nonsense_Mutation_p.S29*|HLTF_uc003ews.1_Nonsense_Mutation_p.S29*|HLTF_uc010hve.1_Nonsense_Mutation_p.S29*	p.S29*	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		1	304	-			29					D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	ENST00000310053.5	37	c.86C>G	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804829	0.96967	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-18.0488	15.3798	0.74645	0.0:0.0:1.0:0.0	.	.	.	.	X	29;29;29;29;26;26	.	ENSP00000308944:S29X	S	-	2	0	HLTF	150285301	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	3.157000	0.50716	2.476000	0.83614	0.591000	0.81541	TCA		0.358	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATGAAACAAATGAATGATGC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		22	Substitution - Missense(22)	p.M1043I(62)|p.M1043V(43)|p.M1043T(4)	endometrium(9)|breast(6)|upper_aerodigestive_tract(3)|large_intestine(1)|central_nervous_system(1)|lung(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3127-3129)Atg>Gtg		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							97.0	87.0	91.0					3																	178952072		1905	4126	6031	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952072A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3127A>G	3.37:g.178952072A>G	ENSP00000263967:p.Met1043Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		20	3284	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3127A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199517	0.38806	.	.	ENSG00000121879	ENST00000263967	T	0.79653	-1.29	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	N	0.02830	-0.485	0.80722	D	1	B	0.22146	0.065	B	0.19666	0.026	T	0.64080	-0.6491	10	0.72032	D	0.01	-20.5202	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1043	P42336	PK3CA_HUMAN	V	1043	ENSP00000263967:M1043V	ENSP00000263967:M1043V	M	+	1	0	PIK3CA	180434766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
RNF168	165918	broad.mit.edu	37	3	196199643	196199643	+	Splice_Site	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr3:196199643C>T	ENST00000318037.3	-	6	1357	c.763G>A	c.(763-765)Gac>Aac	p.D255N	CTD-2002J20.1_ENST00000610042.1_RNA	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	255					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGTCAATGTCCTGTAGAAAA	0.403																																						uc003fwq.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.e6-1		Homo sapiens ring finger protein 168 (RNF168), mRNA.							45.0	43.0	44.0					3																	196199643		2203	4300	6503	SO:0001630	splice_region_variant	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196199643C>T	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.763-1G>A	3.37:g.196199643C>T						RNF168_uc010iah.3_Splice_Site_p.D88_splice	p.D255_splice	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	6	1358	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		255					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.763_splice	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570423	0.45798	.	.	ENSG00000163961	ENST00000318037	T	0.07216	3.21	5.05	4.18	0.49190	.	0.969977	0.08484	N	0.938942	T	0.08758	0.0217	L	0.40543	1.245	0.24754	N	0.992969	B	0.15473	0.013	B	0.04013	0.001	T	0.30238	-0.9985	10	0.37606	T	0.19	-4.5305	8.0537	0.30593	0.0:0.8143:0.0:0.1857	.	255	Q8IYW5	RN168_HUMAN	N	255	ENSP00000320898:D255N	ENSP00000320898:D255N	D	-	1	0	RNF168	197684040	0.953000	0.32496	0.947000	0.38551	0.350000	0.29205	0.981000	0.29526	1.185000	0.42971	0.579000	0.79373	GAC		0.403	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617	Missense_Mutation
RBM47	54502	broad.mit.edu	37	4	40440631	40440631	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr4:40440631C>T	ENST00000381793.2	-	3	676	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	RBM47_ENST00000319592.4_Missense_Mutation_p.V94M|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.V94M|RBM47_ENST00000514014.1_Missense_Mutation_p.V56M|RBM47_ENST00000381795.6_Missense_Mutation_p.V94M			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	94	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGCGGCCCACGGCCTCGAAC	0.672																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(280-282)Gtg>Atg		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							72.0	66.0	68.0					4																	40440631		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440631C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.280G>A	4.37:g.40440631C>T	ENSP00000371212:p.Val94Met					RBM47_uc003gvd.2_Missense_Mutation_p.V94M|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.V56M|RBM47_uc003gvg.1_Missense_Mutation_p.V94M	p.V94M	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	990	-			94			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.280G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318241	0.40996	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782;ENST00000507180;ENST00000511598	T;T;T;T;T;T;T;T;T;T;T	0.44083	2.3;0.93;2.3;0.93;0.93;2.3;0.93;0.93;0.93;0.93;0.93	5.58	3.85	0.44370	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.232056	0.43747	N	0.000531	T	0.60728	0.2291	M	0.82716	2.605	0.50632	D	0.999884	D;P	0.71674	0.998;0.661	P;P	0.58873	0.847;0.485	T	0.66073	-0.6014	10	0.51188	T	0.08	-11.5807	12.3578	0.55186	0.0:0.861:0.0:0.139	.	94;94	A0AV96-2;A0AV96	.;RBM47_HUMAN	M	94;94;94;94;56;94;94;94;94;94;94	ENSP00000320108:V94M;ENSP00000371212:V94M;ENSP00000371214:V94M;ENSP00000295971:V94M;ENSP00000423243:V56M;ENSP00000422564:V94M;ENSP00000421589:V94M;ENSP00000423527:V94M;ENSP00000426542:V94M;ENSP00000423398:V94M;ENSP00000424019:V94M	ENSP00000295971:V94M	V	-	1	0	RBM47	40135388	1.000000	0.71417	0.868000	0.34077	0.095000	0.18619	4.962000	0.63687	1.370000	0.46153	0.313000	0.20887	GTG		0.672	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
TRIML2	205860	broad.mit.edu	37	4	189012897	189012897	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr4:189012897C>A	ENST00000512729.1	-	7	1168	c.794G>T	c.(793-795)aGg>aTg	p.R265M	TRIML2_ENST00000326754.3_Missense_Mutation_p.R290M	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	265	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CACTTGCCACCTGGTTGCCTT	0.602																																						uc011cle.1																			0		p.S340S(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(1018-1020)aGg>aTg		Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.							179.0	176.0	177.0					4																	189012897		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189012897C>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.794G>T	4.37:g.189012897C>A	ENSP00000422581:p.Arg265Met					TRIML2_uc003izj.1_Missense_Mutation_p.R93M|TRIML2_uc003izk.1_Missense_Mutation_p.R73M|TRIML2_uc003izl.2_Missense_Mutation_p.R265M	p.R340M	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1241	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	265			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.1019G>T	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100555	0.56183	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.69806	-0.43;-0.43	5.64	-1.0	0.10196	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.322980	0.04885	N	0.448394	T	0.67363	0.2885	L	0.57536	1.79	0.09310	N	1	P;P	0.45126	0.851;0.851	P;P	0.45377	0.478;0.478	T	0.60596	-0.7232	10	0.66056	D	0.02	.	9.7039	0.40203	0.0:0.3852:0.0:0.6148	.	290;265	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	M	265;290	ENSP00000422581:R265M;ENSP00000317498:R290M	ENSP00000317498:R290M	R	-	2	0	TRIML2	189249891	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.807000	0.04520	-0.287000	0.09064	-0.302000	0.09304	AGG		0.602	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553	
DNAH5	1767	broad.mit.edu	37	5	13727679	13727679	+	Silent	SNP	A	A	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr5:13727679A>G	ENST00000265104.4	-	70	12074	c.11970T>C	c.(11968-11970)tcT>tcC	p.S3990S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3990					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCAGTCAAGAGATTTATCAT	0.388									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11968-11970)tcT>tcC		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							96.0	99.0	98.0					5																	13727679		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13727679A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11970T>C	5.37:g.13727679A>G						DNAH5_uc003jfc.2_Silent_p.S158S	p.S3990S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			69	12012	-	Lung NSC(4;0.00476)		3990					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11970T>C	CCDS3882.1																																																																																				0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DNAH5	1767	broad.mit.edu	37	5	13769686	13769686	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr5:13769686T>A	ENST00000265104.4	-	57	9748	c.9644A>T	c.(9643-9645)gAg>gTg	p.E3215V	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3215	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCAACAGACTCTGAAGCTTC	0.433									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9643-9645)gAg>gTg		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							204.0	187.0	192.0					5																	13769686		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13769686T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9644A>T	5.37:g.13769686T>A	ENSP00000265104:p.Glu3215Val					DNAH5_uc003jfc.2_5'Flank	p.E3215V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			56	9686	-	Lung NSC(4;0.00476)		3215			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.9644A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616556	0.66672	.	.	ENSG00000039139	ENST00000265104	T	0.54479	0.57	5.77	5.77	0.91146	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	L	0.45228	1.405	0.80722	D	1	B	0.23540	0.087	B	0.30572	0.117	T	0.45131	-0.9282	10	0.42905	T	0.14	.	16.3818	0.83467	0.0:0.0:0.0:1.0	.	3215	Q8TE73	DYH5_HUMAN	V	3215	ENSP00000265104:E3215V	ENSP00000265104:E3215V	E	-	2	0	DNAH5	13822686	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	5.003000	0.63959	2.330000	0.79161	0.528000	0.53228	GAG		0.433	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
FST	10468	broad.mit.edu	37	5	52780105	52780105	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr5:52780105T>C	ENST00000256759.3	+	4	1086	c.703T>C	c.(703-705)Tat>Cat	p.Y235H	FST_ENST00000396947.3_Missense_Mutation_p.Y235H	NM_013409.2	NP_037541.1	P19883	FST_HUMAN	follistatin	235	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|female gonad development (GO:0008585)|gamete generation (GO:0007276)|hair follicle morphogenesis (GO:0031069)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinocyte proliferation (GO:0043616)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|pattern specification process (GO:0007389)|positive regulation of hair follicle development (GO:0051798)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	activin binding (GO:0048185)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				TGGATTAGCCTATGAGGGAAA	0.438																																						uc003jpd.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15						c.(703-705)Tat>Cat		Homo sapiens follistatin (FST), transcript variant FST344, mRNA.							59.0	57.0	58.0					5																	52780105		2203	4300	6503	SO:0001583	missense	10468				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	g.chr5:52780105T>C	M19481	CCDS3959.1, CCDS43315.1	5q11.2	2008-02-05			ENSG00000134363	ENSG00000134363			3971	protein-coding gene	gene with protein product		136470				10411917, 3380788	Standard	NM_006350		Approved	FS	uc003jpd.3	P19883	OTTHUMG00000131183	ENST00000256759.3:c.703T>C	5.37:g.52780105T>C	ENSP00000256759:p.Tyr235His					FST_uc003jpc.3_Missense_Mutation_p.Y235H	p.Y235H	NM_013409	NP_037541	P19883	FST_HUMAN			3	1061	+		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)	235			Kazal-like 2.		B5BU94|Q9BTH0	Missense_Mutation	SNP	ENST00000256759.3	37	c.703T>C	CCDS3959.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.831416	0.91036	.	.	ENSG00000134363	ENST00000256759;ENST00000511025;ENST00000396947;ENST00000504226	T;T;T	0.04406	3.63;3.63;3.63	6.17	6.17	0.99709	Proteinase inhibitor I1, Kazal (2);	0.000000	0.85682	D	0.000000	T	0.09247	0.0228	N	0.05031	-0.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54159	-0.8335	10	0.41790	T	0.15	-33.267	16.8222	0.85835	0.0:0.0:0.0:1.0	.	235	P19883	FST_HUMAN	H	235;235;235;107	ENSP00000256759:Y235H;ENSP00000380151:Y235H;ENSP00000426315:Y107H	ENSP00000256759:Y235H	Y	+	1	0	FST	52815862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.939000	0.87685	2.371000	0.80710	0.533000	0.62120	TAT		0.438	FST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253906.1	NM_013409	
CAMK2A	815	broad.mit.edu	37	5	149607807	149607807	+	Silent	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr5:149607807G>A	ENST00000348628.6	-	16	1817	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	CAMK2A_ENST00000398376.3_Silent_p.A395A|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	384					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTTCCCCAGGGCCTCAGGTT	0.562																																						uc003lru.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(1150-1152)gcC>gcT		Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.							68.0	72.0	71.0					5																	149607807		1929	4115	6044	SO:0001819	synonymous_variant	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149607807G>A	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1152C>T	5.37:g.149607807G>A						CAMK2A_uc003lrt.2_Silent_p.A395A	p.A384A	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	1367	-		all_hematologic(541;0.224)	384					Q9UL21|Q9Y2H4|Q9Y352	Silent	SNP	ENST00000348628.6	37	c.1152C>T	CCDS43386.1																																																																																				0.562	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981	
TNIP1	10318	broad.mit.edu	37	5	150422129	150422131	+	In_Frame_Del	DEL	AGG	AGG	-	rs372035675		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr5:150422129_150422131delAGG	ENST00000389378.2	-	11	1692_1694	c.1104_1106delCCT	c.(1102-1107)ctcctg>ctg	p.368_369LL>L	TNIP1_ENST00000518977.1_In_Frame_Del_p.368_369LL>L|TNIP1_ENST00000524280.1_In_Frame_Del_p.368_369LL>L|TNIP1_ENST00000522226.1_In_Frame_Del_p.368_369LL>L|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000521591.1_In_Frame_Del_p.368_369LL>L|TNIP1_ENST00000520931.1_In_Frame_Del_p.315_316LL>L|TNIP1_ENST00000315050.7_In_Frame_Del_p.368_369LL>L|TNIP1_ENST00000523200.1_In_Frame_Del_p.368_369LL>L|TNIP1_ENST00000523338.1_In_Frame_Del_p.368_369LL>L	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	368	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACTTGGCCAGGAGGAGCTTGC	0.562																																						uc003lti.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(1102-1107)ctcctg>ctg		Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.																																				SO:0001651	inframe_deletion	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150422129_150422131delAGG	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1104_1106delCCT	5.37:g.150422132_150422134delAGG	ENSP00000374029:p.Leu369del					TNIP1_uc010jhq.2_In_Frame_Del_p.315_316LL>L|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_In_Frame_Del_p.315_316LL>L|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_In_Frame_Del_p.368_369LL>L|TNIP1_uc010jhm.3_In_Frame_Del_p.368_369LL>L|TNIP1_uc010jhr.2_In_Frame_Del_p.368_369LL>L|TNIP1_uc011dco.2_In_Frame_Del_p.368_369LL>L|TNIP1_uc003ltg.3_In_Frame_Del_p.315_316LL>L|TNIP1_uc003ltk.3_In_Frame_Del_p.368_369LL>L|TNIP1_uc003ltj.3_In_Frame_Del_p.368_369LL>L|TNIP1_uc021ygb.1_In_Frame_Del_p.368_369LL>L	p.368_369LL>L	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1345_1347	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	368			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	In_Frame_Del	DEL	ENST00000389378.2	37	c.1104_1106delCCT	CCDS34280.1																																																																																				0.562	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058	
GALNT10	55568	broad.mit.edu	37	5	153760181	153760181	+	Missense_Mutation	SNP	G	G	T	rs200736059		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr5:153760181G>T	ENST00000297107.6	+	6	1065	c.928G>T	c.(928-930)Gac>Tac	p.D310Y	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.D248Y|GALNT10_ENST00000425427.2_Missense_Mutation_p.D310Y|GALNT10_ENST00000519544.1_3'UTR	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	310					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGACCCCAGCGACCCATTTGA	0.562																																						uc003lvh.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(928-930)Gac>Tac		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.							70.0	70.0	70.0					5																	153760181		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760181G>T	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.928G>T	5.37:g.153760181G>T	ENSP00000297107:p.Asp310Tyr					GALNT10_uc003lvg.1_Missense_Mutation_p.D310Y|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.D151Y	p.D310Y	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		5	1060	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	310					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.928G>T	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690197	0.88735	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.62105	0.05;0.05;0.27	5.59	5.59	0.84812	Glycosyl transferase, family 2 (1);	0.088611	0.85682	D	0.000000	T	0.76601	0.4010	L	0.58510	1.815	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.77004	0.977;0.989;0.97	T	0.72027	-0.4414	10	0.30078	T	0.28	.	19.6017	0.95566	0.0:0.0:1.0:0.0	.	248;310;310	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	Y	310;310;248	ENSP00000415210:D310Y;ENSP00000297107:D310Y;ENSP00000366889:D248Y	ENSP00000297107:D310Y	D	+	1	0	GALNT10	153740374	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	9.395000	0.97266	2.637000	0.89404	0.462000	0.41574	GAC		0.562	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321	
GPX5	2880	broad.mit.edu	37	6	28497370	28497370	+	Missense_Mutation	SNP	C	C	T	rs145161873	byFrequency	TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr6:28497370C>T	ENST00000412168.2	+	2	319	c.230C>T	c.(229-231)gCg>gTg	p.A77V	GPX6_ENST00000483058.1_5'Flank|GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Missense_Mutation_p.A77V	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	77					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GGTCTGACAGCGCAATATCCT	0.378													C|||	8	0.00159744	0.0	0.0	5008	,	,		17576	0.0		0.001	False		,,,				2504	0.0072					uc003nll.2																			0				endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(229-231)gCg>gTg		Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	Glutathione(DB00143)	C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	123.0	101.0	109.0		230,230	-0.2	0.0	6	dbSNP_134	109	18,8582	13.3+/-46.6	0,18,4282	yes	missense,missense	GPX5	NM_001509.2,NM_003996.3	64,64	0,18,6485	TT,TC,CC		0.2093,0.0,0.1384	benign,benign	77/222,77/101	28497370	18,12988	2203	4300	6503	SO:0001583	missense	2880				lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	g.chr6:28497370C>T	AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.230C>T	6.37:g.28497370C>T	ENSP00000392398:p.Ala77Val					GPX5_uc003nlm.2_Missense_Mutation_p.A77V|GPX5_uc003nln.2_Non-coding_Transcript	p.A77V	NM_001509	NP_001500	O75715	GPX5_HUMAN			1	232	+			77					A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	c.230C>T	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.482942	0.26598	0.0	0.002093	ENSG00000224586	ENST00000412168;ENST00000469384	T;T	0.08193	3.12;3.12	3.72	-0.199	0.13220	Thioredoxin-like fold (2);	1.076350	0.07106	N	0.841296	T	0.01320	0.0043	N	0.17723	0.515	0.09310	N	1	D;B	0.54397	0.966;0.068	B;B	0.41412	0.356;0.007	T	0.35525	-0.9785	10	0.17369	T	0.5	0.7084	3.2648	0.06861	0.1861:0.3887:0.0:0.4252	.	77;77	A1A4Y0;O75715	.;GPX5_HUMAN	V	77	ENSP00000392398:A77V;ENSP00000419935:A77V	ENSP00000392398:A77V	A	+	2	0	GPX5	28605349	0.000000	0.05858	0.008000	0.14137	0.990000	0.78478	-0.360000	0.07622	-0.076000	0.12775	-0.136000	0.14681	GCG		0.378	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2		
MDC1	9656	broad.mit.edu	37	6	30675721	30675721	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr6:30675721C>G	ENST00000376406.3	-	8	3282	c.2635G>C	c.(2635-2637)Gaa>Caa	p.E879Q	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	879				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTTGCACTTTCCCCATTTTTG	0.423								Other conserved DNA damage response genes																														uc003nrg.4																			0				breast(2)|kidney(1)|ovary(1)	4						c.(2635-2637)Gaa>Caa	Other conserved DNA damage response genes	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.							313.0	365.0	346.0					6																	30675721		1510	2709	4219	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30675721C>G	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2635G>C	6.37:g.30675721C>G	ENSP00000365588:p.Glu879Gln					MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Intron	p.E879Q	NM_014641	NP_055456	Q14676	MDC1_HUMAN			7	3075	-			879	Missing (in Ref. 2; CAH18685).				A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.2635G>C	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	c	11.19	1.565401	0.27915	.	.	ENSG00000137337	ENST00000376406;ENST00000429610	T	0.02158	4.42	4.63	-1.75	0.08031	.	.	.	.	.	T	0.00440	0.0014	N	0.14661	0.345	0.09310	N	0.999999	P	0.35011	0.48	B	0.27500	0.08	T	0.42224	-0.9464	9	0.23891	T	0.37	0.0059	9.5915	0.39548	0.0:0.3388:0.0:0.6612	.	879	Q14676	MDC1_HUMAN	Q	879	ENSP00000365588:E879Q	ENSP00000365588:E879Q	E	-	1	0	MDC1	30783700	0.000000	0.05858	0.001000	0.08648	0.242000	0.25591	-0.906000	0.04071	-0.299000	0.08909	-0.379000	0.06801	GAA		0.423	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
PKHD1	5314	broad.mit.edu	37	6	51799064	51799064	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr6:51799064G>A	ENST00000371117.3	-	37	6240	c.5965C>T	c.(5965-5967)Ctt>Ttt	p.L1989F	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1989F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1989	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCAGAAACAAGGATGGCGTGT	0.542											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(5965-5967)Ctt>Ttt		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							116.0	108.0	111.0					6																	51799064		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51799064G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5965C>T	6.37:g.51799064G>A	ENSP00000360158:p.Leu1989Phe		OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	980	PKHD1_uc010jzn.1_Missense_Mutation_p.L14F|PKHD1_uc003pai.3_Missense_Mutation_p.L1989F	p.L1989F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			36	6241	-	Lung NSC(77;0.0605)		1989			G8 1.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5965C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360413	0.82353	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90955	-2.76;-2.76	5.59	5.59	0.84812	G8 domain (2);	0.000000	0.64402	D	0.000014	D	0.95268	0.8465	M	0.89785	3.06	0.40189	D	0.977381	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.95818	0.8847	10	0.87932	D	0	.	11.9771	0.53098	0.0787:0.0:0.9213:0.0	.	1989;1989;1989	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	F	1989	ENSP00000360158:L1989F;ENSP00000341097:L1989F	ENSP00000341097:L1989F	L	-	1	0	PKHD1	51907023	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.656000	0.67988	2.612000	0.88384	0.655000	0.94253	CTT		0.542	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
SAMD3	154075	broad.mit.edu	37	6	130505305	130505305	+	Silent	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr6:130505305G>A	ENST00000368134.2	-	9	1205	c.597C>T	c.(595-597)gaC>gaT	p.D199D	SAMD3_ENST00000457563.2_Silent_p.D223D|SAMD3_ENST00000532763.1_Silent_p.D197D|SAMD3_ENST00000437477.2_Silent_p.D199D|SAMD3_ENST00000439090.2_Silent_p.D199D|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Silent_p.D199D	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	199										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CATTAACCACGTCATTGTACT	0.473																																						uc003qbw.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(595-597)gaC>gaT		Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.							104.0	92.0	96.0					6																	130505305		2203	4300	6503	SO:0001819	synonymous_variant	154075							g.chr6:130505305G>A	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.597C>T	6.37:g.130505305G>A						SAMD3_uc003qbx.3_Silent_p.D199D|SAMD3_uc010kfg.1_Silent_p.D199D|SAMD3_uc003qby.3_Silent_p.D199D|SAMD3_uc003qbz.1_Silent_p.D158D	p.D199D	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	6	925	-			199					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Silent	SNP	ENST00000368134.2	37	c.597C>T	CCDS34539.1																																																																																				0.473	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552	
TCF21	6943	broad.mit.edu	37	6	134210609	134210609	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr6:134210609T>C	ENST00000367882.4	+	1	334	c.74T>C	c.(73-75)aTg>aCg	p.M25T	RP3-323P13.2_ENST00000606544.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.M25T|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	25					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGGTTGAAAATGGATTCGAAC	0.577																																						uc003qei.4																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(73-75)aTg>aCg		Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA.							91.0	97.0	95.0					6																	134210609		2203	4300	6503	SO:0001583	missense	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210609T>C	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.74T>C	6.37:g.134210609T>C	ENSP00000356857:p.Met25Thr					BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.M25T	p.M25T	NM_003206	NP_938206	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	0	351	+	Colorectal(23;0.221)|Breast(56;0.247)		25					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.74T>C	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	T	9.188	1.025335	0.19433	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96011	-3.88;-3.88	4.43	4.43	0.53597	.	0.383764	0.30142	N	0.010309	D	0.83184	0.5199	N	0.22421	0.69	0.32460	N	0.544284	B	0.06786	0.001	B	0.04013	0.001	T	0.71454	-0.4588	10	0.12430	T	0.62	-11.6615	12.8543	0.57876	0.0:0.0:0.0:1.0	.	25	O43680	TCF21_HUMAN	T	25	ENSP00000356857:M25T;ENSP00000237316:M25T	ENSP00000237316:M25T	M	+	2	0	TCF21	134252302	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.357000	0.79456	1.630000	0.50440	0.260000	0.18958	ATG		0.577	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392	
TMEM184A	202915	broad.mit.edu	37	7	1588261	1588261	+	Silent	SNP	G	G	A	rs532306357		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr7:1588261G>A	ENST00000297477.5	-	7	1024	c.708C>T	c.(706-708)taC>taT	p.Y236Y	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	236					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GGAACAGGGCGTAGAGGGCGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		16342	0.0		0.0	False		,,,				2504	0.001					uc003skv.4																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(706-708)taC>taT		Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.							128.0	162.0	150.0					7																	1588261		2200	4299	6499	SO:0001819	synonymous_variant	202915					integral to membrane		g.chr7:1588261G>A		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.708C>T	7.37:g.1588261G>A						TMEM184A_uc003skt.4_Silent_p.Y215Y|TMEM184A_uc021zyr.1_Silent_p.Y41Y	p.Y236Y	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	6	1025	-		Ovarian(82;0.0253)	236					Q8TBQ6	Silent	SNP	ENST00000297477.5	37	c.708C>T	CCDS43537.1																																																																																				0.607	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689	
CCDC129	223075	broad.mit.edu	37	7	31692423	31692423	+	Missense_Mutation	SNP	G	G	T	rs140998733		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr7:31692423G>T	ENST00000407970.3	+	14	3153	c.3115G>T	c.(3115-3117)Gat>Tat	p.D1039Y	CCDC129_ENST00000409210.1_Missense_Mutation_p.D947Y|CCDC129_ENST00000319386.3_Missense_Mutation_p.D891Y|CCDC129_ENST00000451887.2_Intron	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	1039										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGGAGAAAAGGATGCAGATGT	0.438																																						uc011kae.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44								Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.							102.0	92.0	95.0					7																	31692423		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31692423G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.3115G>T	7.37:g.31692423G>T	ENSP00000384416:p.Asp1039Tyr					CCDC129_uc011kad.1_Missense_Mutation_p.D1049Y|CCDC129_uc003tcj.1_Missense_Mutation_p.D1039Y|CCDC129_uc003tci.1_Missense_Mutation_p.D890Y|CCDC129_uc003tck.1_Missense_Mutation_p.D947Y		NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN					+								A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37		CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984525	0.35036	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000538406;ENST00000409210	T;T;T	0.21734	1.99;2.26;1.99	3.91	-1.74	0.08056	.	0.849335	0.09817	N	0.751990	T	0.13030	0.0316	L	0.36672	1.1	0.09310	N	1	B;B;B	0.22683	0.073;0.073;0.033	B;B;B	0.19148	0.024;0.024;0.015	T	0.33369	-0.9871	10	0.72032	D	0.01	0.9037	1.5033	0.02481	0.1955:0.3049:0.3436:0.156	.	1049;1039;891	F5H2J8;Q6ZRS4;Q6ZRS4-2	.;CC129_HUMAN;.	Y	891;1039;1049;947	ENSP00000313062:D891Y;ENSP00000384416:D1039Y;ENSP00000387214:D947Y	ENSP00000313062:D891Y	D	+	1	0	CCDC129	31658948	0.004000	0.15560	0.000000	0.03702	0.006000	0.05464	0.060000	0.14342	-0.526000	0.06383	0.655000	0.94253	GAT		0.438	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300	
TRIM24	8805	broad.mit.edu	37	7	138235836	138235836	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr7:138235836G>A	ENST00000343526.4	+	8	1387	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	TRIM24_ENST00000415680.2_Missense_Mutation_p.R391H|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	391					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R391H(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CACCTCCTTCGTGCAAGGTGT	0.398																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.3																			1	Substitution - Missense(1)	p.R391H(2)	central_nervous_system(1)	breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(1171-1173)cGt>cAt		Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.							202.0	176.0	185.0					7																	138235836		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138235836G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1172G>A	7.37:g.138235836G>A	ENSP00000340507:p.Arg391His					TRIM24_uc003vub.3_Missense_Mutation_p.R391H|TRIM24_uc022amn.1_Missense_Mutation_p.R349H	p.R391H	NM_015905	NP_056989	O15164	TIF1A_HUMAN			7	1387	+			391					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.1172G>A	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738650	0.89573	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.77750	-1.12;-1.09	5.14	5.14	0.70334	B-box, C-terminal (1);	0.065374	0.64402	D	0.000008	D	0.84831	0.5559	L	0.59436	1.845	0.41939	D	0.990603	B;D	0.67145	0.318;0.996	B;D	0.63192	0.058;0.912	D	0.86202	0.1619	10	0.62326	D	0.03	-13.9849	16.7271	0.85424	0.0:0.0:1.0:0.0	.	391;391	O15164;O15164-2	TIF1A_HUMAN;.	H	391;302;391;349	ENSP00000340507:R391H;ENSP00000390829:R391H	ENSP00000340507:R391H	R	+	2	0	TRIM24	137886376	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.957000	0.63652	2.531000	0.85337	0.591000	0.81541	CGT		0.398	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905	
TRPV6	55503	broad.mit.edu	37	7	142573221	142573221	+	Splice_Site	SNP	C	C	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr7:142573221C>A	ENST00000359396.3	-	8	1367	c.1122G>T	c.(1120-1122)caG>caT	p.Q374H	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	374					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGGTGTCACCTGAAGTAGCT	0.577																																						uc003wbx.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42						c.e8+1		Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.							72.0	67.0	69.0					7																	142573221		2203	4300	6503	SO:0001630	splice_region_variant	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142573221C>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1122+1G>T	7.37:g.142573221C>A						TRPV6_uc003wbw.1_Splice_Site_p.Q160_splice|TRPV6_uc010lou.1_Splice_Site_p.Q245_splice	p.Q374_splice	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			8	1351	-	Melanoma(164;0.059)		374					A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1122_splice	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017197	0.35606	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	D	0.85629	-2.01	4.59	3.69	0.42338	.	0.187540	0.47093	D	0.000255	D	0.92443	0.7601	M	0.88842	2.985	0.46874	D	0.999238	D	0.76494	0.999	D	0.68765	0.96	D	0.93119	0.6523	9	.	.	.	-26.7778	13.1303	0.59377	0.1612:0.8388:0.0:0.0	.	374	Q9H1D0	TRPV6_HUMAN	H	374;206	ENSP00000352358:Q374H	.	Q	-	3	2	TRPV6	142283343	1.000000	0.71417	0.993000	0.49108	0.057000	0.15508	2.522000	0.45572	1.140000	0.42260	-0.311000	0.09066	CAG		0.577	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	Missense_Mutation
NOS3	4846	broad.mit.edu	37	7	150703990	150703990	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr7:150703990C>T	ENST00000297494.3	+	16	2191	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	NOS3_ENST00000461406.1_Missense_Mutation_p.R406C	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTATAAGATCCGCTTCAACAG	0.607																																						uc003wif.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1834-1836)Cgc>Tgc		Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						106.0	97.0	100.0					7																	150703990		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150703990C>T		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1834C>T	7.37:g.150703990C>T	ENSP00000297494:p.Arg612Cys					NOS3_uc011kuy.2_Missense_Mutation_p.R406C	p.R612C	NM_000603	NP_000594	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	15	2130	+	all_neural(206;0.219)		612			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.1834C>T	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610642	0.87258	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.59364	0.27;0.27	5.14	5.14	0.70334	Flavodoxin/nitric oxide synthase (2);	0.000000	0.56097	D	0.000027	T	0.76751	0.4031	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.79638	-0.1720	10	0.72032	D	0.01	-12.8482	16.4755	0.84131	0.0:1.0:0.0:0.0	.	406;612	E7ESA7;P29474	.;NOS3_HUMAN	C	612;406	ENSP00000297494:R612C;ENSP00000417143:R406C	ENSP00000297494:R612C	R	+	1	0	NOS3	150334923	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.138000	0.64795	2.554000	0.86153	0.603000	0.83216	CGC		0.607	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	NM_000603	
MTMR9	66036	broad.mit.edu	37	8	11163732	11163732	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr8:11163732A>C	ENST00000221086.3	+	5	1098	c.625A>C	c.(625-627)Aca>Cca	p.T209P	MTMR9_ENST00000526292.1_Missense_Mutation_p.T124P	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	209	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ACTCACTGGTACAAACGGGAG	0.458																																						uc003wtm.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(625-627)Aca>Cca		Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.							91.0	80.0	84.0					8																	11163732		2203	4300	6503	SO:0001583	missense	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11163732A>C	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.625A>C	8.37:g.11163732A>C	ENSP00000221086:p.Thr209Pro					MTMR9_uc010lrx.3_Missense_Mutation_p.T102P|MTMR9_uc011kxa.2_Missense_Mutation_p.T124P	p.T209P	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	4	1023	+			209			Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	ENST00000221086.3	37	c.625A>C	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.379844	0.42207	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.92858	-3.12;-3.12	5.54	5.54	0.83059	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.043242	0.85682	D	0.000000	D	0.82995	0.5158	N	0.05158	-0.105	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.78388	-0.2223	10	0.30078	T	0.28	.	14.8615	0.70384	1.0:0.0:0.0:0.0	.	209	Q96QG7	MTMR9_HUMAN	P	209;124	ENSP00000221086:T209P;ENSP00000433239:T124P	ENSP00000221086:T209P	T	+	1	0	MTMR9	11201142	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.162000	0.77515	2.101000	0.63845	0.460000	0.39030	ACA		0.458	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458	
MTMR9	66036	broad.mit.edu	37	8	11163737	11163737	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr8:11163737C>G	ENST00000221086.3	+	5	1103	c.630C>G	c.(628-630)aaC>aaG	p.N210K	MTMR9_ENST00000526292.1_Missense_Mutation_p.N125K	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	210	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)	p.N210N(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTGGTACAAACGGGAGGAGGT	0.468																																						uc003wtm.3																			1	Substitution - coding silent(1)	p.N210N(2)	endometrium(1)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16						c.(628-630)aaC>aaG		Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.							93.0	82.0	85.0					8																	11163737		2203	4300	6503	SO:0001583	missense	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11163737C>G	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.630C>G	8.37:g.11163737C>G	ENSP00000221086:p.Asn210Lys					MTMR9_uc010lrx.3_Missense_Mutation_p.N103K|MTMR9_uc011kxa.2_Missense_Mutation_p.N125K	p.N210K	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	4	1028	+			210			Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	ENST00000221086.3	37	c.630C>G	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367930	0.61513	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.92299	-3.01;-3.01	5.54	-2.56	0.06268	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.039819	0.85682	D	0.000000	D	0.86406	0.5925	L	0.42632	1.34	0.58432	D	0.999999	P	0.40602	0.723	B	0.39094	0.29	T	0.79550	-0.1757	10	0.38643	T	0.18	.	12.8649	0.57934	0.0:0.6346:0.0:0.3654	.	210	Q96QG7	MTMR9_HUMAN	K	210;125	ENSP00000221086:N210K;ENSP00000433239:N125K	ENSP00000221086:N210K	N	+	3	2	MTMR9	11201147	0.983000	0.35010	0.984000	0.44739	0.956000	0.61745	0.180000	0.16860	-0.462000	0.06984	-0.414000	0.06135	AAC		0.468	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458	
PCMTD1	115294	broad.mit.edu	37	8	52773608	52773608	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr8:52773608G>A	ENST00000360540.5	-	3	510	c.104C>T	c.(103-105)gCg>gTg	p.A35V	PCMTD1_ENST00000522514.1_Missense_Mutation_p.A35V|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000521344.1_Missense_Mutation_p.A35V	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	35						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ACGATCAATCGCTCTGAAGGC	0.423																																						uc003xqx.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(103-105)gCg>gTg		Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.							86.0	78.0	81.0					8																	52773608		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52773608G>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.104C>T	8.37:g.52773608G>A	ENSP00000353739:p.Ala35Val					PCMTD1_uc011ldn.2_Intron|PCMTD1_uc010lya.3_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.A35V	p.A35V	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			1	445	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	35					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.104C>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	G	33	5.239121	0.95240	.	.	ENSG00000168300	ENST00000360540;ENST00000522514;ENST00000521344	T;T;T	0.46819	0.86;0.86;0.86	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.87758	2.905	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	T	0.77830	-0.2442	10	0.72032	D	0.01	-27.4099	19.7237	0.96153	0.0:0.0:1.0:0.0	.	35	Q96MG8	PCMD1_HUMAN	V	35	ENSP00000353739:A35V;ENSP00000428099:A35V;ENSP00000430168:A35V	ENSP00000353739:A35V	A	-	2	0	PCMTD1	52936161	1.000000	0.71417	0.980000	0.43619	0.977000	0.68977	9.248000	0.95456	2.729000	0.93468	0.650000	0.86243	GCG		0.423	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
RIMS2	9699	broad.mit.edu	37	8	105001613	105001613	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr8:105001613G>A	ENST00000436393.2	+	15	2583	c.2342G>A	c.(2341-2343)cGt>cAt	p.R781H	RIMS2_ENST00000406091.3_Missense_Mutation_p.R1003H|RIMS2_ENST00000507740.1_Missense_Mutation_p.R795H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R842H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1065					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACAGACATCGTGTCATGGAT	0.388										HNSCC(12;0.0054)																												uc003yls.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2341-2343)cGt>cAt		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.							116.0	113.0	114.0					8																	105001613		1860	4091	5951	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105001613G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2342G>A	8.37:g.105001613G>A	ENSP00000390665:p.Arg781His	HNSCC(12;0.0054)				RIMS2_uc003ylp.3_Missense_Mutation_p.R1003H|RIMS2_uc003ylw.2_Missense_Mutation_p.R795H|RIMS2_uc003ylq.3_Missense_Mutation_p.R795H|RIMS2_uc003ylr.3_Missense_Mutation_p.R842H	p.R781H	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2583	+			1065					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2342G>A		.	.	.	.	.	.	.	.	.	.	G	15.78	2.934072	0.52866	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T	0.21543	2.0;2.54;2.21;2.02;2.0;2.47	5.54	2.77	0.32553	.	.	.	.	.	T	0.20495	0.0493	L	0.55990	1.75	0.80722	D	1	B;B;B;B;B	0.18863	0.012;0.022;0.023;0.018;0.031	B;B;B;B;B	0.13407	0.009;0.003;0.006;0.004;0.006	T	0.04855	-1.0922	9	0.66056	D	0.02	.	9.9519	0.41645	0.2223:0.0:0.7777:0.0	.	1065;781;842;795;1003	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	H	1003;1018;1003;1065;842;795;795;781	ENSP00000427018:R1003H;ENSP00000384892:R1003H;ENSP00000262231:R842H;ENSP00000423559:R795H;ENSP00000386228:R795H;ENSP00000390665:R781H	ENSP00000262231:R842H	R	+	2	0	RIMS2	105070789	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.906000	0.39887	0.712000	0.32039	0.484000	0.47621	CGT		0.388	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
BAG1	573	broad.mit.edu	37	9	33258950	33258950	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:33258950C>G	ENST00000379704.2	-	4	833	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	BAG1_ENST00000467389.2_5'UTR|BAG1_ENST00000472232.3_Missense_Mutation_p.E249Q			Q99933	BAG1_HUMAN	BCL2-associated athanogene	249	7 X 6 AA tandem repeat of E-E-X(4).				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			TTATTCAACTCTTCCAGCTGG	0.398																																					GBM(77;1066 1502 5858 12192)	uc003zsj.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(745-747)Gag>Cag		Homo sapiens BCL2-associated athanogene (BAG1), transcript variant 1, mRNA.							142.0	134.0	136.0					9																	33258950		2203	4300	6503	SO:0001583	missense	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33258950C>G	AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.400G>C	9.37:g.33258950C>G	ENSP00000369026:p.Glu134Gln					BAG1_uc003zsi.3_Missense_Mutation_p.E111Q	p.E249Q	NM_001172415	NP_001165886	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		3	832	-			249			BAG.|Interaction with PPP1R15A.		O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Missense_Mutation	SNP	ENST00000379704.2	37	c.745G>C	CCDS55301.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214319	0.39102	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704;ENST00000473781	.	.	.	5.27	5.27	0.74061	BAG domain (2);	0.333481	0.34628	N	0.003807	T	0.62732	0.2452	L	0.36672	1.1	0.39030	D	0.959911	P;D	0.64830	0.956;0.994	P;P	0.58970	0.498;0.849	T	0.58989	-0.7538	9	0.26408	T	0.33	-2.4493	16.4305	0.83840	0.0:1.0:0.0:0.0	.	178;249	Q99933-3;Q99933	.;BAG1_HUMAN	Q	249;134;134;140	.	ENSP00000369022:E134Q	E	-	1	0	BAG1	33248950	1.000000	0.71417	0.964000	0.40570	0.141000	0.21300	3.218000	0.51192	2.722000	0.93159	0.655000	0.94253	GAG		0.398	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052042.3	NM_004323	
BAG1	573	broad.mit.edu	37	9	33258984	33258984	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:33258984C>G	ENST00000379704.2	-	4	799	c.366G>C	c.(364-366)gaG>gaC	p.E122D	BAG1_ENST00000467389.2_5'UTR|BAG1_ENST00000472232.3_Missense_Mutation_p.E237D			Q99933	BAG1_HUMAN	BCL2-associated athanogene	237	7 X 6 AA tandem repeat of E-E-X(4).				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			CCACAGACTTCTCCAAATGTT	0.403																																					GBM(77;1066 1502 5858 12192)	uc003zsj.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(709-711)gaG>gaC		Homo sapiens BCL2-associated athanogene (BAG1), transcript variant 1, mRNA.							140.0	132.0	134.0					9																	33258984		2203	4300	6503	SO:0001583	missense	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33258984C>G	AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.366G>C	9.37:g.33258984C>G	ENSP00000369026:p.Glu122Asp					BAG1_uc003zsi.3_Missense_Mutation_p.E99D	p.E237D	NM_001172415	NP_001165886	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		3	798	-			237			Interaction with PPP1R15A.		O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Missense_Mutation	SNP	ENST00000379704.2	37	c.711G>C	CCDS55301.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795493	0.70452	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704;ENST00000473781	.	.	.	5.27	3.45	0.39498	.	0.000000	0.85682	D	0.000000	T	0.66799	0.2826	L	0.59436	1.845	0.58432	D	0.999995	D;P	0.59357	0.985;0.941	D;P	0.67382	0.951;0.86	T	0.62464	-0.6849	9	0.30078	T	0.28	-23.4703	9.657	0.39932	0.0:0.8325:0.0:0.1675	.	166;237	Q99933-3;Q99933	.;BAG1_HUMAN	D	237;122;122;128	.	ENSP00000369022:E122D	E	-	3	2	BAG1	33248984	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.162000	0.31786	0.800000	0.34041	-0.136000	0.14681	GAG		0.403	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052042.3	NM_004323	
BAG1	573	broad.mit.edu	37	9	33259020	33259020	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:33259020C>A	ENST00000379704.2	-	4	763	c.330G>T	c.(328-330)caG>caT	p.Q110H	BAG1_ENST00000467389.2_5'UTR|BAG1_ENST00000472232.3_Missense_Mutation_p.Q225H			Q99933	BAG1_HUMAN	BCL2-associated athanogene	225	7 X 6 AA tandem repeat of E-E-X(4).				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|chaperone cofactor-dependent protein refolding (GO:0070389)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			CAACCTCTTCCTGTGGACTGT	0.423																																					GBM(77;1066 1502 5858 12192)	uc003zsj.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(673-675)caG>caT		Homo sapiens BCL2-associated athanogene (BAG1), transcript variant 1, mRNA.							97.0	91.0	93.0					9																	33259020		2203	4300	6503	SO:0001583	missense	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33259020C>A	AF022224	CCDS35004.1, CCDS55301.1	9p12	2010-12-09			ENSG00000107262	ENSG00000107262			937	protein-coding gene	gene with protein product		601497				7834747	Standard	NM_004323		Approved		uc003zsj.3	Q99933	OTTHUMG00000019766	ENST00000379704.2:c.330G>T	9.37:g.33259020C>A	ENSP00000369026:p.Gln110His					BAG1_uc003zsi.3_Missense_Mutation_p.Q87H	p.Q225H	NM_001172415	NP_001165886	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		3	762	-			225			Interaction with PPP1R15A.		O75315|Q14414|Q53H32|Q5VZE8|Q5VZE9|Q5VZF0|Q96TG2|Q9Y2V4	Missense_Mutation	SNP	ENST00000379704.2	37	c.675G>T	CCDS55301.1	.	.	.	.	.	.	.	.	.	.	C	38	7.093287	0.98059	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704;ENST00000473781	.	.	.	5.27	4.13	0.48395	.	0.050372	0.85682	D	0.000000	T	0.16769	0.0403	N	0.08118	0	0.24316	N	0.995061	B;B	0.27068	0.167;0.034	B;B	0.12837	0.008;0.001	T	0.13415	-1.0510	9	0.72032	D	0.01	-12.2513	6.4525	0.21912	0.0:0.7419:0.0:0.2581	.	154;225	Q99933-3;Q99933	.;BAG1_HUMAN	H	225;110;110;116	.	ENSP00000369022:Q110H	Q	-	3	2	BAG1	33249020	0.955000	0.32602	1.000000	0.80357	0.940000	0.58332	0.039000	0.13884	1.095000	0.41419	0.655000	0.94253	CAG		0.423	BAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052042.3	NM_004323	
WNK2	65268	broad.mit.edu	37	9	96080326	96080326	+	3'UTR	SNP	C	C	T	rs372704041		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:96080326C>T	ENST00000297954.4	+	0	6911				WNK2_ENST00000471076.1_Intron|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000427277.2_Silent_p.R1827R|WNK2_ENST00000395475.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2						intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GTGGTCCACGCGCCGTCTCCA	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		16540	0.001		0.0	False		,,,				2504	0.0					uc011lud.1																			0		p.T2215fs*31(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(6643-6645)cgC>cgT		Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.		C		1,1751		0,1,875	121.0	111.0	114.0			-4.0	0.0	9		114	0,3982		0,0,1991	no	intron	WNK2	NM_006648.3		0,1,2866	TT,TC,CC		0.0,0.0571,0.0174			96080326	1,5733	876	1991	2867	SO:0001624	3_prime_UTR_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96080326C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.*17C>T	9.37:g.96080326C>T						WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR	p.R2215R	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			28	6645	+			0					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.6645C>T		.	.	.	.	.	.	.	.	.	.	C	4.473	0.087709	0.08583	5.71E-4	0.0	ENSG00000165238	ENST00000432730	.	.	.	4.41	-4.0	0.04057	.	.	.	.	.	T	0.27313	0.0670	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33240	-0.9876	4	.	.	.	.	6.4732	0.22020	0.0:0.125:0.2768:0.5983	.	.	.	.	V	2211	.	.	A	+	2	0	WNK2	95120147	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.471000	0.22100	-0.670000	0.05282	0.655000	0.94253	GCG		0.582	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
GRIN3A	116443	broad.mit.edu	37	9	104356906	104356906	+	Intron	SNP	C	C	T	rs569559919		TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:104356906C>T	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.D103N	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TTATCCATGTCGTAAATGCTG	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20070	0.0		0.0	False		,,,				2504	0.0					uc004bbr.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(307-309)Gac>Aac		Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	Cyclosporine(DB00091)						149.0	135.0	139.0					9																	104356906		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356906C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15264G>A	9.37:g.104356906C>T						GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	p.D103N	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			0	378	-		Acute lymphoblastic leukemia(62;0.0527)	100			EF-hand 3.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.307G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915965	0.92178	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	D	0.95821	-3.82	3.97	3.97	0.46021	EF-hand-like domain (1);	0.000000	0.44483	D	0.000457	D	0.98124	0.9381	M	0.93197	3.39	0.48762	D	0.999706	D	0.89917	1.0	D	0.97110	1.0	D	0.98602	1.0659	10	0.87932	D	0	-28.5716	14.3488	0.66685	0.0:1.0:0.0:0.0	.	100	Q96LZ3	CANB2_HUMAN	N	103	ENSP00000363939:D103N	ENSP00000363939:D103N	D	-	1	0	PPP3R2	103396727	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.490000	0.81461	2.507000	0.84556	0.563000	0.77884	GAC		0.532	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
SOHLH1	402381	broad.mit.edu	37	9	138588634	138588634	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:138588634G>A	ENST00000298466.5	-	5	545	c.485C>T	c.(484-486)gCg>gTg	p.A162V	SOHLH1_ENST00000425225.1_Missense_Mutation_p.A162V	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	162					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		TTCCAGAAACGCCTTCACATC	0.637																																						uc010nbe.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(484-486)gCg>gTg		Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.							45.0	49.0	48.0					9																	138588634		2203	4298	6501	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138588634G>A	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.485C>T	9.37:g.138588634G>A	ENSP00000298466:p.Ala162Val					SOHLH1_uc004cgl.3_Missense_Mutation_p.A162V	p.A162V	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	4	546	-		Myeloproliferative disorder(178;0.0511)	162					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.485C>T	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	G	1.743	-0.491168	0.04322	.	.	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.35605	1.3;1.33	0.729	-0.792	0.10925	.	.	.	.	.	T	0.11879	0.0289	N	0.04508	-0.205	0.09310	N	1	B;B	0.15930	0.011;0.015	B;B	0.08055	0.003;0.001	T	0.32052	-0.9921	8	0.02654	T	1	.	.	.	.	.	162;162	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	V	162	ENSP00000298466:A162V;ENSP00000404438:A162V	ENSP00000298466:A162V	A	-	2	0	SOHLH1	137728455	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-1.564000	0.02152	-0.259000	0.09432	-0.492000	0.04666	GCG		0.637	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415	
MAMDC4	158056	broad.mit.edu	37	9	139752001	139752001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0171-02A-11D-2280-08	TCGA-06-0171-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39520be3-a2af-4189-acf4-9d239363333a	9ef6f1c1-8137-4539-ac6a-9d76608dfc57	g.chr9:139752001G>A	ENST00000317446.2	+	18	2339	c.2289G>A	c.(2287-2289)tgG>tgA	p.W763*	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Nonsense_Mutation_p.W842*	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ATGCTGCCTGGGGCCCCCCAA	0.657																																						uc004cjs.3																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(2287-2289)tgG>tgA		Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.							33.0	39.0	37.0					9																	139752001		2198	4298	6496	SO:0001587	stop_gained	158056				protein transport	integral to membrane		g.chr9:139752001G>A	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2289G>A	9.37:g.139752001G>A	ENSP00000319388:p.Trp763*					MAMDC4_uc011mej.2_Nonsense_Mutation_p.W100*	p.W763*	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	17	2339	+	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)	842			MAM 4.			Nonsense_Mutation	SNP	ENST00000317446.2	37	c.2289G>A	CCDS7010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	38|38	6.768112|6.768112	0.97825|0.97825	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000317446;ENST00000445819	.|.	.|.	.|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	.|0.734425	.|0.11744	.|N	.|0.533689	T|.	0.55337|.	0.1914|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.62081|.	-0.6929|.	3|.	.|0.34782	.|T	.|0.22	-3.0586|-3.0586	12.1596|12.1596	0.54098|0.54098	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	828|763;842	.|.	.|ENSP00000319388:W763X	G|W	+|+	1|3	0|0	MAMDC4|MAMDC4	138871822|138871822	0.063000|0.063000	0.20901|0.20901	0.853000|0.853000	0.33588|0.33588	0.359000|0.359000	0.29487|0.29487	0.215000|0.215000	0.17562|0.17562	1.994000|1.994000	0.58287|0.58287	0.491000|0.491000	0.48974|0.48974	GGG|TGG		0.657	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254642.3	NM_206920	
