#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
SLC45A1	50651	broad.mit.edu	37	1	8403928	8403928	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:8403928C>T	ENST00000471889.1	+	9	2487	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A735V|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A701V			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	701					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.A701V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACCTCGGCCGTGGGCAGT	0.617																																						uc001apb.2																			1	Substitution - Missense(1)	p.A701V(1)	central_nervous_system(1)	central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(2101-2103)GCC>GTC		DNB5							97.0	76.0	83.0					1																	8403928		2203	4300	6503	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8403928C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.2102C>T	1.37:g.8403928C>T	ENSP00000418096:p.Ala701Val					SLC45A1_uc001apc.2_Missense_Mutation_p.A399V	p.A701V	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	8	2102	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	701			Helical; (Potential).		Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.2102C>T	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	C	7.498	0.652040	0.14580	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	T;T;T	0.81415	-1.49;-1.49;-1.49	5.04	4.01	0.46588	Major facilitator superfamily domain, general substrate transporter (1);	0.344337	0.32147	N	0.006504	T	0.64494	0.2603	N	0.25825	0.765	0.38958	D	0.958495	B	0.02656	0.0	B	0.04013	0.001	T	0.58370	-0.7648	10	0.16420	T	0.52	-20.3849	7.5	0.27511	0.0:0.7718:0.0:0.2282	.	701	Q9Y2W3	S45A1_HUMAN	V	701;735;701	ENSP00000418096:A701V;ENSP00000366699:A735V;ENSP00000289877:A701V	ENSP00000289877:A701V	A	+	2	0	SLC45A1	8326515	1.000000	0.71417	0.862000	0.33874	0.788000	0.44548	4.555000	0.60767	2.327000	0.79052	0.555000	0.69702	GCC		0.617	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5		
ZNF644	84146	broad.mit.edu	37	1	91405171	91405171	+	Silent	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:91405171G>C	ENST00000370440.1	-	3	1957	c.1740C>G	c.(1738-1740)tcC>tcG	p.S580S	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Silent_p.S580S|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	580					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTGATTTTTTGGATGATCCTA	0.383																																						uc001dnw.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(1738-1740)TCC>TCG		zinc finger protein 644 isoform 1							114.0	114.0	114.0					1																	91405171		2203	4299	6502	SO:0001819	synonymous_variant	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405171G>C	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1740C>G	1.37:g.91405171G>C						ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Silent_p.S580S	p.S580S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1882	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	580					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Silent	SNP	ENST00000370440.1	37	c.1740C>G	CCDS731.1																																																																																				0.383	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
ANKRD35	148741	broad.mit.edu	37	1	145558859	145558859	+	Missense_Mutation	SNP	G	G	A	rs150752253	byFrequency	TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:145558859G>A	ENST00000355594.4	+	7	565	c.478G>A	c.(478-480)Gca>Aca	p.A160T	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	160								p.A160T(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGATGATCGCATCGCTGGG	0.577																																					Melanoma(9;127 754 22988 51047)	uc001eob.1																			1	Substitution - Missense(1)		kidney(1)	ovary(4)|skin(1)	5						c.(478-480)GCA>ACA		ankyrin repeat domain 35		G	THR/ALA	0,4406		0,0,2203	129.0	121.0	124.0		478	5.5	0.9	1	dbSNP_134	124	4,8596	3.7+/-12.6	0,4,4296	yes	missense	ANKRD35	NM_144698.3	58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	160/1002	145558859	4,13002	2203	4300	6503	SO:0001583	missense	148741							g.chr1:145558859G>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.478G>A	1.37:g.145558859G>A	ENSP00000347802:p.Ala160Thr					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.A3T	p.A160T	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			7	586	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		160			ANK 4.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.478G>A	CCDS919.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119812	0.77323	0.0	4.65E-4	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.81163	-1.46	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.45606	D	0.000347	D	0.90679	0.7076	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91992	0.5604	10	0.59425	D	0.04	-11.9671	14.9105	0.70752	0.0:0.0:1.0:0.0	.	160	Q8N283	ANR35_HUMAN	T	69;160	ENSP00000347802:A160T	ENSP00000347802:A160T	A	+	1	0	ANKRD35	144270216	0.992000	0.36948	0.915000	0.36163	0.345000	0.29048	4.990000	0.63876	2.583000	0.87209	0.655000	0.94253	GCA		0.577	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698	
SLC45A3	85414	broad.mit.edu	37	1	205632669	205632669	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:205632669G>A	ENST00000367145.3	-	3	545	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	84					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGCCGGCGGCGGCCATAGCGT	0.637			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																	uc001hda.1				Dom	yes		1	1q32	85414	T	"""solute carrier family 45, member 3"""			E	ETV1|ETV5|ELK4|ERG		prostate 	SLC45A3/BRAF(2)	0				ovary(2)|prostate(2)	4						c.(250-252)CGC>TGC		prostein																																				SO:0001583	missense	85414				transmembrane transport	integral to membrane		g.chr1:205632669G>A	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.250C>T	1.37:g.205632669G>A	ENSP00000356113:p.Arg84Cys					SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	p.R84C	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		3	589	-	Breast(84;0.07)		84					A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	c.250C>T	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.543936	0.45280	.	.	ENSG00000158715	ENST00000367145	D	0.93133	-3.17	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97210	0.9088	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97814	1.0252	10	0.87932	D	0	-11.9166	18.1315	0.89603	0.0:0.0:1.0:0.0	.	84	Q96JT2	S45A3_HUMAN	C	84	ENSP00000356113:R84C	ENSP00000356113:R84C	R	-	1	0	SLC45A3	203899292	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	5.200000	0.65158	2.676000	0.91093	0.655000	0.94253	CGC		0.637	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102	
FAM177B	400823	broad.mit.edu	37	1	222919976	222919976	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:222919976A>G	ENST00000445590.2	+	3	355	c.89A>G	c.(88-90)gAc>gGc	p.D30G	FAM177B_ENST00000360827.2_Missense_Mutation_p.D30G	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	30										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						CATTTTGTTGACGGAGACATC	0.408																																						uc001hnt.2																			0				ovary(1)	1						c.(88-90)GAC>GGC		hypothetical protein LOC400823							75.0	70.0	71.0					1																	222919976		2203	4300	6503	SO:0001583	missense	400823							g.chr1:222919976A>G	AK125494	CCDS1535.2	1q41	2008-08-08			ENSG00000197520	ENSG00000197520			34395	protein-coding gene	gene with protein product							Standard	NM_207468		Approved	RP11-452F19.2, FLJ43505	uc001hnt.3	A6PVY3	OTTHUMG00000037766	ENST00000445590.2:c.89A>G	1.37:g.222919976A>G	ENSP00000414451:p.Asp30Gly					uc001hnr.1_Intron|FAM177B_uc009xeb.2_RNA	p.D30G	NM_207468	NP_997351	A6PVY3	F177B_HUMAN			3	355	+			30					Q6ZUN8	Missense_Mutation	SNP	ENST00000445590.2	37	c.89A>G	CCDS1535.2	.	.	.	.	.	.	.	.	.	.	a	15.27	2.782303	0.49891	.	.	ENSG00000197520	ENST00000434700;ENST00000445590;ENST00000360827;ENST00000456298	T;T;T;T	0.55052	0.56;1.08;1.08;0.54	4.67	4.67	0.58626	.	0.451006	0.18387	N	0.142781	T	0.52757	0.1754	M	0.76574	2.34	0.22666	N	0.998877	P	0.45957	0.869	B	0.42087	0.375	T	0.51004	-0.8760	10	0.33940	T	0.23	-15.5951	10.4983	0.44791	1.0:0.0:0.0:0.0	.	30	A6PVY3	F177B_HUMAN	G	30	ENSP00000391615:D30G;ENSP00000414451:D30G;ENSP00000354070:D30G;ENSP00000400233:D30G	ENSP00000354070:D30G	D	+	2	0	FAM177B	220986599	0.997000	0.39634	0.989000	0.46669	0.599000	0.36880	3.069000	0.50026	1.728000	0.51552	0.472000	0.43445	GAC		0.408	FAM177B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092151.2	NM_207468	
EXO1	9156	broad.mit.edu	37	1	242048792	242048792	+	Silent	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:242048792A>G	ENST00000366548.3	+	15	2981	c.2388A>G	c.(2386-2388)aaA>aaG	p.K796K	EXO1_ENST00000348581.5_Silent_p.K796K|EXO1_ENST00000518483.1_Silent_p.K796K	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	796	Interaction with MLH1.|Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGCTCTGGAAAAACTTTGGAT	0.418								Editing and processing nucleases																														uc001hzh.2																			0				ovary(2)|lung(2)|skin(1)	5						c.(2386-2388)AAA>AAG	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							73.0	81.0	78.0					1																	242048792		2203	4300	6503	SO:0001819	synonymous_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242048792A>G	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2388A>G	1.37:g.242048792A>G						EXO1_uc001hzi.2_Silent_p.K796K|EXO1_uc001hzj.2_Silent_p.K796K|EXO1_uc009xgq.2_Silent_p.K795K	p.K796K	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		15	2928	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	796			Interaction with MLH1.|Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	37	c.2388A>G	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	A	7.748	0.702679	0.15172	.	.	ENSG00000174371	ENST00000521202	T	0.70045	-0.45	5.86	2.3	0.28687	.	0.206150	0.50627	D	0.000117	T	0.72479	0.3465	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71066	-0.4700	7	0.72032	D	0.01	-22.6712	9.4805	0.38898	0.8014:0.0:0.1986:0.0	.	.	.	.	E	161	ENSP00000428326:K161E	ENSP00000428326:K161E	K	+	1	0	EXO1	240115415	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	2.182000	0.42556	0.133000	0.18654	-1.114000	0.02060	AAA		0.418	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027	
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						uc001jif.2																			1	Substitution - Missense(1)		kidney(1)	ovary(2)	2						c.(1750-1752)GCA>ACA		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr					PARG_uc001jih.2_Missense_Mutation_p.A584T|PARG_uc001jig.2_Missense_Mutation_p.A170T|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Missense_Mutation_p.A475T|PARG_uc009xoj.2_Missense_Mutation_p.A135T|PARG_uc010qgx.1_Missense_Mutation_p.A502T	p.A584T	NM_003631	NP_003622	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	8	2011	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.1750G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631	
RRP8	23378	broad.mit.edu	37	11	6622635	6622635	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:6622635C>G	ENST00000254605.6	-	3	778	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	RRP8_ENST00000534343.1_Intron|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000299421.4_5'Flank|ILK_ENST00000528995.1_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000537806.1_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	221					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GGAGACACCTCTGTCTTCTCT	0.607																																						uc001med.2																			0					0						c.(661-663)GAG>CAG		ribosomal RNA processing 8, methyltransferase,							37.0	39.0	39.0					11																	6622635		2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622635C>G	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.661G>C	11.37:g.6622635C>G	ENSP00000254605:p.Glu221Gln					ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	p.E221Q	NM_015324	NP_056139	O43159	RRP8_HUMAN			3	740	-			221					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.661G>C	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081791	0.36758	.	.	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.50277	1.42;0.75	5.85	5.85	0.93711	.	0.415853	0.26038	N	0.026720	T	0.37679	0.1012	L	0.34521	1.04	0.80722	D	1	P	0.50710	0.938	B	0.43508	0.422	T	0.07712	-1.0758	10	0.27082	T	0.32	-4.5413	11.1012	0.48174	0.0:0.916:0.0:0.084	.	221	O43159	RRP8_HUMAN	Q	221	ENSP00000254605:E221Q;ENSP00000436246:E221Q	ENSP00000254605:E221Q	E	-	1	0	RRP8	6579211	0.986000	0.35501	0.994000	0.49952	0.185000	0.23345	5.292000	0.65673	2.773000	0.95371	0.650000	0.86243	GAG		0.607	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324	
OR8J3	81168	broad.mit.edu	37	11	55904564	55904564	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:55904564T>C	ENST00000301529.1	-	1	630	c.631A>G	c.(631-633)Atg>Gtg	p.M211V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACTGTAATCATGGAAAAAACC	0.358																																						uc010riz.1																			0				skin(2)	2						c.(631-633)ATG>GTG		olfactory receptor, family 8, subfamily J,							96.0	100.0	99.0					11																	55904564		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904564T>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.631A>G	11.37:g.55904564T>C	ENSP00000301529:p.Met211Val						p.M211V	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	631	-	Esophageal squamous(21;0.00693)		211			Helical; Name=5; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.631A>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	6.408	0.443373	0.12164	.	.	ENSG00000167822	ENST00000301529	T	0.35421	1.31	3.27	-6.55	0.01854	GPCR, rhodopsin-like superfamily (1);	0.538666	0.19959	N	0.102250	T	0.07458	0.0188	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.15867	-1.0422	10	0.28530	T	0.3	.	1.9037	0.03273	0.3729:0.0971:0.3582:0.1717	.	211	Q8NGG0	OR8J3_HUMAN	V	211	ENSP00000301529:M211V	ENSP00000301529:M211V	M	-	1	0	OR8J3	55661140	0.000000	0.05858	0.000000	0.03702	0.605000	0.37080	-3.549000	0.00434	-1.108000	0.03000	0.247000	0.18012	ATG		0.358	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064	
MS4A14	84689	broad.mit.edu	37	11	60164186	60164186	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:60164186G>T	ENST00000300187.6	+	1	412	c.135G>T	c.(133-135)ttG>ttT	p.L45F	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.L45F|MS4A14_ENST00000395005.2_Missense_Mutation_p.L45F|MS4A14_ENST00000531787.1_Intron	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	45						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CAAGAGTCTTGGGGGTAAGTC	0.423																																						uc001npj.2																			0				breast(1)	1						c.(133-135)TTG>TTT		membrane-spanning 4-domains, subfamily A, member							66.0	58.0	61.0					11																	60164186		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60164186G>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.135G>T	11.37:g.60164186G>T	ENSP00000300187:p.Leu45Phe					MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.L45F|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	p.L45F	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			1	700	+			45					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.135G>T	CCDS31569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.10|16.10	3.028113|3.028113	0.54790|0.54790	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783|ENST00000534688	T;T;T;T|.	0.56275|.	3.22;0.47;3.22;3.22|.	4.58|4.58	0.586|0.586	0.17434|0.17434	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.62405|0.62405	0.2425|0.2425	M|M	0.76727|0.76727	2.345|2.345	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.74348|.	0.971;0.983|.	T|T	0.57051|0.57051	-0.7877|-0.7877	10|5	0.87932|.	D|.	0|.	-7.6901|-7.6901	6.5071|6.5071	0.22202|0.22202	0.4264:0.0:0.5736:0.0|0.4264:0.0:0.5736:0.0	.|.	45;45|.	Q96JA4-2;Q96JA4|.	.;M4A14_HUMAN|.	F|L	45|4	ENSP00000300187:L45F;ENSP00000378453:L45F;ENSP00000435764:L45F;ENSP00000433761:L45F|.	ENSP00000300187:L45F|.	L|W	+|+	3|2	2|0	MS4A14|MS4A14	59920762|59920762	0.992000|0.992000	0.36948|0.36948	0.585000|0.585000	0.28666|0.28666	0.917000|0.917000	0.54804|0.54804	-0.019000|-0.019000	0.12546|0.12546	-0.048000|-0.048000	0.13401|0.13401	-0.140000|-0.140000	0.14226|0.14226	TTG|TGG		0.423	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
TPCN2	219931	broad.mit.edu	37	11	68822263	68822263	+	Silent	SNP	A	A	G	rs142314553		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:68822263A>G	ENST00000294309.3	+	3	350	c.249A>G	c.(247-249)caA>caG	p.Q83Q	TPCN2_ENST00000542467.1_Silent_p.Q83Q	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	83					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTATGCCAACGGTGAGAAC	0.602																																						uc001oos.2																			0					0						c.(247-249)CAA>CAG		two pore segment channel 2		A		0,4400		0,0,2200	111.0	75.0	87.0		249	-2.9	1.0	11	dbSNP_134	87	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous	TPCN2	NM_139075.3		0,1,6493	GG,GA,AA		0.0116,0.0,0.0077		83/753	68822263	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822263A>G	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.249A>G	11.37:g.68822263A>G						TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Silent_p.Q83Q	p.Q83Q	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	365	+			83			Cytoplasmic (Potential).		Q9NT82	Silent	SNP	ENST00000294309.3	37	c.249A>G	CCDS8189.1																																																																																				0.602	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	
MFRP	83552	broad.mit.edu	37	11	119212361	119212361	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:119212361T>G	ENST00000530681.1	-	13	1781	c.1637A>C	c.(1636-1638)gAg>gCg	p.E546A	MFRP_ENST00000360167.4_Missense_Mutation_p.E428A|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000555262.1_Missense_Mutation_p.E546A|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000449574.2_Missense_Mutation_p.E546A|C1QTNF5_ENST00000525657.1_5'Flank	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	546	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GCACTGGTGCTCCGCTTCCTG	0.647																																						uc001pwj.2																			0					0						c.(1636-1638)GAG>GCG		membrane frizzled-related protein							30.0	35.0	34.0					11																	119212361		2199	4295	6494	SO:0001583	missense	83552					collagen		g.chr11:119212361T>G	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1637A>C	11.37:g.119212361T>G	ENSP00000456533:p.Glu546Ala					MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.E428A	p.E546A	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	13	1797	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	Error:Variant_position_missing_in_Q9BXJ0_after_alignment					B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.1637A>C	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631882	0.87660	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	T;T;T	0.76316	-1.01;-1.01;-1.01	4.36	4.36	0.52297	Frizzled domain (4);	0.000000	0.85682	D	0.000000	D	0.82953	0.5149	L	0.55834	1.745	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79196	-0.1903	10	0.14252	T	0.57	-19.2897	13.4108	0.60942	0.0:0.0:0.0:1.0	.	428;546	B4DHN8;Q9BY79	.;MFRP_HUMAN	A	546;546;428	ENSP00000450509:E546A;ENSP00000391664:E546A;ENSP00000353291:E428A	ENSP00000353291:E428A	E	-	2	0	MFRP	118717571	1.000000	0.71417	0.984000	0.44739	0.985000	0.73830	5.503000	0.66962	1.825000	0.53177	0.459000	0.35465	GAG		0.647	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433	
OR10S1	219873	broad.mit.edu	37	11	123847740	123847740	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:123847740A>G	ENST00000531945.1	-	1	748	c.659T>C	c.(658-660)gTg>gCg	p.V220A		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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)		GCCTGCAGCCACGATGCCAAT	0.562																																						uc001pzm.1																			0				ovary(1)|skin(1)	2						c.(658-660)GTG>GCG		olfactory receptor, family 10, subfamily S,							59.0	52.0	54.0					11																	123847740		2202	4299	6501	SO:0001583	missense	219873				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123847740A>G	BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.659T>C	11.37:g.123847740A>G	ENSP00000431914:p.Val220Ala						p.V220A	NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	659	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	220			Helical; Name=5; (Potential).		B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	c.659T>C	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354971	0.41700	.	.	ENSG00000196248	ENST00000531945	T	0.00152	8.66	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37577	U	0.002022	T	0.00210	0.0006	M	0.64567	1.98	0.09310	N	1	P	0.35192	0.489	B	0.34138	0.176	T	0.44498	-0.9324	10	0.62326	D	0.03	-15.589	14.252	0.66026	1.0:0.0:0.0:0.0	.	220	Q8NGN2	O10S1_HUMAN	A	220	ENSP00000431914:V220A	ENSP00000431914:V220A	V	-	2	0	OR10S1	123352950	0.001000	0.12720	0.889000	0.34880	0.396000	0.30629	1.536000	0.36072	2.039000	0.60335	0.533000	0.62120	GTG		0.562	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
APLP2	334	broad.mit.edu	37	11	129999095	129999095	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:129999095G>A	ENST00000263574.5	+	10	1521	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	APLP2_ENST00000338167.5_Silent_p.P483P|APLP2_ENST00000539648.1_Silent_p.P271P|APLP2_ENST00000278756.7_Silent_p.P493P|APLP2_ENST00000345598.5_Silent_p.P254P|APLP2_ENST00000528499.1_Silent_p.P427P|APLP2_ENST00000543137.1_Silent_p.P390P	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	483					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGTCTGACCCGCCACGGGTGA	0.572																																						uc010sby.1																			0				ovary(3)	3						c.(1447-1449)CCG>CCA		amyloid beta (A4) precursor-like protein 2							82.0	78.0	79.0					11																	129999095		2201	4297	6498	SO:0001819	synonymous_variant	334				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	g.chr11:129999095G>A	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1449G>A	11.37:g.129999095G>A						APLP2_uc001qfp.2_Silent_p.P483P|APLP2_uc001qfq.2_Silent_p.P427P|APLP2_uc010sbz.1_Silent_p.P271P|APLP2_uc001qfr.2_Silent_p.P249P|APLP2_uc001qfs.2_Silent_p.P254P|APLP2_uc001qfv.2_Silent_p.P374P	p.P483P	NM_001642	NP_001633	Q06481	APLP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)	10	1606	+	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	483			Extracellular (Potential).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000263574.5	37	c.1449G>A	CCDS8486.1																																																																																				0.572	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	
ATN1	1822	broad.mit.edu	37	12	7045674	7045674	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr12:7045674C>T	ENST00000356654.4	+	5	1481	c.1244C>T	c.(1243-1245)cCa>cTa	p.P415L	ATN1_ENST00000396684.2_Missense_Mutation_p.P415L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	415					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TTCCCTCCCCCAACAAGCCTC	0.607													c|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001					uc001qrw.1																			0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1243-1245)CCA>CTA		atrophin-1							91.0	78.0	82.0					12																	7045674		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7045674C>T	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1244C>T	12.37:g.7045674C>T	ENSP00000349076:p.Pro415Leu					ATN1_uc001qrx.1_Missense_Mutation_p.P415L|ATN1_uc001qry.1_Missense_Mutation_p.P414L	p.P415L	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			5	1481	+			415					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.1244C>T	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	c	8.713	0.912479	0.17907	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.54675	0.56;0.56;0.56	3.88	2.97	0.34412	.	0.000000	0.33712	U	0.004623	T	0.40743	0.1129	L	0.36672	1.1	0.54753	D	0.999984	B;B	0.31989	0.35;0.043	B;B	0.34652	0.187;0.052	T	0.32295	-0.9912	10	0.66056	D	0.02	.	6.8233	0.23868	0.1763:0.7333:0.0:0.0905	.	415;415	Q86V38;P54259	.;ATN1_HUMAN	L	415	ENSP00000349076:P415L;ENSP00000379915:P415L;ENSP00000441744:P415L	ENSP00000349076:P415L	P	+	2	0	ATN1	6915935	0.221000	0.23642	0.767000	0.31495	0.303000	0.27691	3.299000	0.51826	0.729000	0.32403	-0.290000	0.09829	CCA		0.607	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
PDE3A	5139	broad.mit.edu	37	12	20790147	20790147	+	Silent	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr12:20790147A>G	ENST00000359062.3	+	9	2155	c.2115A>G	c.(2113-2115)agA>agG	p.R705R	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	705					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	ATATAGGAAGAAAATGTGGCC	0.343																																						uc001reh.1																			0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2113-2115)AGA>AGG		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						66.0	64.0	65.0					12																	20790147		2202	4300	6502	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20790147A>G		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2115A>G	12.37:g.20790147A>G							p.R705R	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			9	2137	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	705					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.2115A>G	CCDS31754.1																																																																																				0.343	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		
SACS	26278	broad.mit.edu	37	13	23912431	23912431	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr13:23912431T>C	ENST00000382292.3	-	9	5857	c.5584A>G	c.(5584-5586)Aca>Gca	p.T1862A	SACS_ENST00000382298.3_Missense_Mutation_p.T1862A|SACS_ENST00000402364.1_Missense_Mutation_p.T1112A			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1862					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTTTCACTGTCCACTTCTGG	0.453																																						uc001uon.2																			0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(5584-5586)ACA>GCA		sacsin							130.0	129.0	130.0					13																	23912431		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23912431T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5584A>G	13.37:g.23912431T>C	ENSP00000371729:p.Thr1862Ala					SACS_uc001uoo.2_Missense_Mutation_p.T1715A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.T1862A	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	6173	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1862					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.5584A>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	13.21	2.170641	0.38315	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86164	-2.05;-2.08;-2.05	5.75	3.37	0.38596	.	0.461511	0.24256	N	0.040130	T	0.74726	0.3754	N	0.22421	0.69	0.42692	D	0.993585	B	0.02656	0.0	B	0.04013	0.001	T	0.61802	-0.6988	10	0.22109	T	0.4	.	6.2216	0.20685	0.0:0.0902:0.1616:0.7482	.	1862	Q9NZJ4	SACS_HUMAN	A	1862;1112;1862	ENSP00000371729:T1862A;ENSP00000385844:T1112A;ENSP00000371735:T1862A	ENSP00000371729:T1862A	T	-	1	0	SACS	22810431	1.000000	0.71417	0.640000	0.29408	0.655000	0.38815	0.960000	0.29253	0.456000	0.26937	0.482000	0.46254	ACA		0.453	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
PAN3	255967	broad.mit.edu	37	13	28851372	28851372	+	Splice_Site	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr13:28851372A>G	ENST00000380958.3	+	15	2201		c.e15-1		PAN3_ENST00000399613.1_Splice_Site|PAN3_ENST00000282391.5_Splice_Site	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTTTCATGTCAGCAAGCAGAT	0.343																																						uc001urz.2																			0				ovary(1)	1						c.e14-2		PABP1-dependent poly A-specific ribonuclease							90.0	89.0	89.0					13																	28851372		2203	4300	6503	SO:0001630	splice_region_variant	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28851372A>G	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2050-1A>G	13.37:g.28851372A>G						PAN3_uc001ury.2_Splice_Site_p.Q372_splice|PAN3_uc001urx.2_Splice_Site_p.Q484_splice	p.Q538_splice	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	14	1620	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)							Splice_Site	SNP	ENST00000380958.3	37	c.1612_splice	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527567	0.85706	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0707	0.80928	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAN3	27749372	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.194000	0.70268	0.533000	0.62120	.		0.343	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	Intron
G2E3	55632	broad.mit.edu	37	14	31081472	31081472	+	Nonsense_Mutation	SNP	C	C	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr14:31081472C>G	ENST00000206595.6	+	13	1714	c.1560C>G	c.(1558-1560)taC>taG	p.Y520*	G2E3_ENST00000438909.2_Nonsense_Mutation_p.Y474*|G2E3_ENST00000553504.1_Nonsense_Mutation_p.Y550*	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	520	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCTATAACTACCTTGAGTTAA	0.318																																						uc001wqk.2																			0				ovary(2)|skin(1)	3						c.(1558-1560)TAC>TAG		G2/M-phase specific E3 ubiquitin ligase							110.0	116.0	114.0					14																	31081472		2203	4295	6498	SO:0001587	stop_gained	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31081472C>G	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1560C>G	14.37:g.31081472C>G	ENSP00000206595:p.Tyr520*					G2E3_uc010tpf.1_Nonsense_Mutation_p.Y474*|G2E3_uc001wql.1_Nonsense_Mutation_p.Y32*	p.Y520*	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			13	1714	+			520			HECT.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Nonsense_Mutation	SNP	ENST00000206595.6	37	c.1560C>G	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	49	15.535986	0.99837	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	.	.	.	5.47	0.535	0.17133	.	0.241706	0.43110	D	0.000614	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.548	10.2416	0.43316	0.0:0.6004:0.0:0.3996	.	.	.	.	X	520;474;550	.	ENSP00000206595:Y520X	Y	+	3	2	G2E3	30151223	0.977000	0.34250	0.345000	0.25642	0.651000	0.38670	0.579000	0.23788	-0.102000	0.12197	0.555000	0.69702	TAC		0.318	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769	
WDHD1	11169	broad.mit.edu	37	14	55451511	55451511	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr14:55451511T>G	ENST00000360586.3	-	15	1901	c.1836A>C	c.(1834-1836)caA>caC	p.Q612H	WDHD1_ENST00000421192.1_Missense_Mutation_p.Q489H|WDHD1_ENST00000420358.2_Missense_Mutation_p.Q489H|WDHD1_ENST00000359167.4_Missense_Mutation_p.Q130H	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	612				Q -> K (in Ref. 3; AAH43349/AAH00622). {ECO:0000305}.	heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATGCAAAATTTGTTTTTTCT	0.378																																						uc001xbm.1																			0				skin(1)	1						c.(1834-1836)CAA>CAC		WD repeat and HMG-box DNA binding protein 1							54.0	56.0	55.0					14																	55451511		2203	4300	6503	SO:0001583	missense	11169					cytoplasm|nucleoplasm	DNA binding	g.chr14:55451511T>G	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1836A>C	14.37:g.55451511T>G	ENSP00000353793:p.Gln612His					WDHD1_uc010aom.1_Missense_Mutation_p.Q129H|WDHD1_uc001xbn.1_Missense_Mutation_p.Q489H	p.Q612H	NM_007086	NP_009017	O75717	WDHD1_HUMAN			15	1914	-			612	Q -> K (in Ref. 2; AAH43349/AAH00622).				C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	c.1836A>C	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.675713	0.67928	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.64085	0.28;0.77;-0.08	5.14	-0.713	0.11223	.	0.061993	0.64402	D	0.000003	T	0.73489	0.3593	M	0.82323	2.585	0.52501	D	0.999953	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.922	T	0.71761	-0.4495	10	0.15499	T	0.54	.	10.7324	0.46104	0.0:0.5278:0.0:0.4722	.	130;612	F8W7P7;O75717	.;WDHD1_HUMAN	H	612;130;489	ENSP00000353793:Q612H;ENSP00000352085:Q130H;ENSP00000391049:Q489H	ENSP00000352085:Q130H	Q	-	3	2	WDHD1	54521261	0.033000	0.19621	0.994000	0.49952	0.983000	0.72400	0.043000	0.13971	-0.103000	0.12175	0.460000	0.39030	CAA		0.378	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2	NM_007086	
TCF12	6938	broad.mit.edu	37	15	57554312	57554313	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:57554312_57554313delCT	ENST00000267811.5	+	16	1720_1721	c.1416_1417delCT	c.(1414-1419)gactctfs	p.S473fs	TCF12_ENST00000543579.1_Frame_Shift_Del_p.S327fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S497fs|TCF12_ENST00000559703.1_Frame_Shift_Del_p.S131fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S303fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S493fs|TCF12_ENST00000559710.1_Frame_Shift_Del_p.S107fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S497fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S473fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.S237fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	473					immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATCGGGAAGACTCTGTCAGTCT	0.356			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.2				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma		0				central_nervous_system(5)|ovary(2)|lung(1)	8						c.(1414-1419)GACTCTfs		transcription factor 12 isoform b																																				SO:0001589	frameshift_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57554312_57554313delCT	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1416_1417delCT	15.37:g.57554314_57554315delCT	ENSP00000267811:p.Ser473fs					TCF12_uc010ugm.1_Frame_Shift_Del_p.D524fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.D492fs|TCF12_uc002aea.2_Frame_Shift_Del_p.D496fs|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Frame_Shift_Del_p.D496fs|TCF12_uc002aed.2_Frame_Shift_Del_p.D472fs|TCF12_uc002aee.2_Frame_Shift_Del_p.D302fs|TCF12_uc010bft.2_Frame_Shift_Del_p.D326fs|TCF12_uc010ugo.1_Frame_Shift_Del_p.D236fs|TCF12_uc010ugp.1_Frame_Shift_Del_p.D130fs|TCF12_uc010ugq.1_Frame_Shift_Del_p.D106fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.D85fs	p.D472fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	16	1700_1701	+		Colorectal(260;0.0907)	472_473					Q7Z3D9|Q86TC1|Q86VM2	Frame_Shift_Del	DEL	ENST00000267811.5	37	c.1416_1417delCT	CCDS10159.1																																																																																				0.356	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	
TCF12	6938	broad.mit.edu	37	15	57555309	57555309	+	Splice_Site	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:57555309G>C	ENST00000267811.5	+	17	1814		c.e17-1		TCF12_ENST00000543579.1_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000559703.1_Splice_Site|TCF12_ENST00000343827.3_Splice_Site|TCF12_ENST00000452095.2_Splice_Site|TCF12_ENST00000559710.1_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000537840.1_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.?(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTCTTTGTTAGGTGGCTTGCA	0.358			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.2				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma		1	Unknown(1)	p.?(1)	central_nervous_system(1)	central_nervous_system(5)|ovary(2)|lung(1)	8						c.e17-1		transcription factor 12 isoform b							71.0	68.0	69.0					15																	57555309		2192	4292	6484	SO:0001630	splice_region_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57555309G>C	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1511-1G>C	15.37:g.57555309G>C						TCF12_uc010ugm.1_Splice_Site_p.G556_splice|TCF12_uc010ugn.1_Splice_Site_p.G524_splice|TCF12_uc002aea.2_Splice_Site_p.G528_splice|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Splice_Site_p.G528_splice|TCF12_uc002aed.2_Splice_Site_p.G504_splice|TCF12_uc002aee.2_Splice_Site_p.G334_splice|TCF12_uc010bft.2_Splice_Site_p.G358_splice|TCF12_uc010ugo.1_Splice_Site_p.G268_splice|TCF12_uc010ugp.1_Splice_Site_p.G162_splice|TCF12_uc010ugq.1_Splice_Site_p.G138_splice|TCF12_uc010ugr.1_Splice_Site_p.G117_splice	p.G504_splice	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	17	1795	+		Colorectal(260;0.0907)						Q7Z3D9|Q86TC1|Q86VM2	Splice_Site	SNP	ENST00000267811.5	37	c.1511_splice	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001278	0.74818	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2361	0.93861	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TCF12	55342601	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.488000	0.66869	2.872000	0.98467	0.650000	0.86243	.		0.358	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	Intron
TARSL2	123283	broad.mit.edu	37	15	102241320	102241320	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:102241320A>G	ENST00000335968.3	-	10	1505	c.1289T>C	c.(1288-1290)tTc>tCc	p.F430S		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	430					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTATAAATGAAGGCTCCTCT	0.303																																						uc002bxm.2																			0				ovary(2)	2						c.(1288-1290)TTC>TCC		threonyl-tRNA synthetase-like 2							46.0	49.0	48.0					15																	102241320		2203	4299	6502	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102241320A>G	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1289T>C	15.37:g.102241320A>G	ENSP00000338093:p.Phe430Ser					TARSL2_uc002bxl.2_5'UTR|TARSL2_uc010usi.1_RNA	p.F430S	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		10	1344	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		430					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.1289T>C	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	A	9.665	1.145090	0.21288	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	4.81	3.66	0.41972	.	0.324016	0.35805	N	0.002969	T	0.30039	0.0752	N	0.14661	0.345	0.34796	D	0.736241	B	0.16166	0.016	B	0.14578	0.011	T	0.21245	-1.0251	9	0.27082	T	0.32	-10.8408	5.7657	0.18225	0.6559:0.1755:0.0:0.1685	.	430	A2RTX5	SYTC2_HUMAN	S	430;335;430	.	ENSP00000329291:F335S	F	-	2	0	TARSL2	100058843	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.275000	0.33144	0.765000	0.33221	0.533000	0.62120	TTC		0.303	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334	
HBZ	3050	broad.mit.edu	37	16	202974	202974	+	Silent	SNP	C	C	T	rs368733826		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:202974C>T	ENST00000252951.2	+	1	289	c.66C>T	c.(64-66)gcC>gcT	p.A22A		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	22					erythrocyte maturation (GO:0043249)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCACGCAGGCCGACACCATCG	0.627													C|||	0	0.0	0.0	0.0	5008	,	,		13584	0.0		0.0	False		,,,				2504	0.0					uc002cft.1																			0					0						c.(64-66)GCC>GCT		hemoglobin, zeta							81.0	48.0	59.0					16																	202974		2203	4297	6500	SO:0001819	synonymous_variant	3050					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr16:202974C>T	M24173	CCDS10397.1	16p13.3	2014-05-19			ENSG00000130656	ENSG00000130656			4835	protein-coding gene	gene with protein product		142310				2649166	Standard	XM_005255287		Approved	HBZ1, HBZ-T1	uc002cft.1	P02008	OTTHUMG00000059928	ENST00000252951.2:c.66C>T	16.37:g.202974C>T							p.A22A	NM_005332	NP_005323	P02008	HBAZ_HUMAN			1	121	+		all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	22					Q6IBF6	Silent	SNP	ENST00000252951.2	37	c.66C>T	CCDS10397.1																																																																																				0.627	HBZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133205.1	NM_005332	
SSTR5	6755	broad.mit.edu	37	16	1129388	1129388	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:1129388C>A	ENST00000293897.4	+	1	608	c.520C>A	c.(520-522)Ctc>Atc	p.L174I	SSTR5_ENST00000562758.1_Missense_Mutation_p.L174I|SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Missense_Mutation_p.L174I	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	174					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GTCGCTGCCGCTCCTGGTGTT	0.721																																						uc002ckq.2																			0				lung(1)	1						c.(520-522)CTC>ATC		somatostatin receptor 5	Octreotide(DB00104)						14.0	17.0	16.0					16																	1129388		2167	4257	6424	SO:0001583	missense	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129388C>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.520C>A	16.37:g.1129388C>A	ENSP00000293897:p.Leu174Ile					LOC146336_uc002cko.2_5'Flank|LOC146336_uc002ckp.1_5'Flank	p.L174I	NM_001053	NP_001044	P35346	SSR5_HUMAN			1	608	+		Hepatocellular(780;0.00369)	174			Helical; Name=4; (Potential).		P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.520C>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.263024	0.01445	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.38077	1.16;1.16	4.87	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	0.067649	0.64402	D	0.000019	T	0.12689	0.0308	N	0.01515	-0.825	0.26379	N	0.976767	B	0.06786	0.001	B	0.15052	0.012	T	0.26677	-1.0096	10	0.06494	T	0.89	.	15.197	0.73100	0.0:0.3042:0.6958:0.0	.	174	P35346	SSR5_HUMAN	I	174	ENSP00000380680:L174I;ENSP00000293897:L174I	ENSP00000293897:L174I	L	+	1	0	SSTR5	1069389	0.086000	0.21541	0.263000	0.24496	0.005000	0.04900	0.368000	0.20399	0.454000	0.26884	-0.264000	0.10439	CTC		0.721	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1		
C16orf91	283951	broad.mit.edu	37	16	1470457	1470457	+	Silent	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:1470457C>T	ENST00000442039.2	-	2	265	c.189G>A	c.(187-189)tcG>tcA	p.S63S	C16orf91_ENST00000310355.1_Silent_p.S220S|C16orf91_ENST00000563974.1_5'UTR	NM_001272051.1	NP_001258980.1	Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	63						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TATGGCCCACCGACCAGCGGT	0.652																																						uc002clr.2																			0					0						c.(187-189)TCG>TCA		hypothetical protein LOC283951							79.0	74.0	76.0					16																	1470457		2199	4300	6499	SO:0001819	synonymous_variant	283951					integral to membrane		g.chr16:1470457C>T	BC023590	CCDS61789.1	16p13.3	2012-10-10			ENSG00000174109	ENSG00000174109			27558	protein-coding gene	gene with protein product	"""cattle cerebrum and skeletal muscle-specific protein 1 family member"""						Standard	NM_001272051		Approved	gs103, CCSMST1	uc002clr.4	Q4G0I0		ENST00000442039.2:c.189G>A	16.37:g.1470457C>T						C16orf91_uc010uvd.1_Silent_p.S220S	p.S63S	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN			2	210	-			63			Extracellular (Potential).		Q96RZ0	Silent	SNP	ENST00000442039.2	37	c.189G>A																																																																																					0.652	C16orf91-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432502.1	NM_001010878	
PDILT	204474	broad.mit.edu	37	16	20370764	20370764	+	Silent	SNP	G	G	A	rs374255958		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:20370764G>A	ENST00000302451.4	-	12	1880	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	544					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.Y544Y(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCTTGGATACGTACTTGGTCA	0.512																																						uc002dhc.1																			1	Substitution - coding silent(1)		large_intestine(1)	large_intestine(1)	1						c.(1630-1632)TAC>TAT		protein disulfide isomerase-like, testis							230.0	205.0	213.0					16																	20370764		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370764G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1632C>T	16.37:g.20370764G>A							p.Y544Y	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			12	1855	-			544					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1632C>T	CCDS10584.1																																																																																				0.512	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924	
ARMC5	79798	broad.mit.edu	37	16	31470871	31470871	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:31470871C>A	ENST00000563544.1	+	2	572	c.26C>A	c.(25-27)aCg>aAg	p.T9K	ARMC5_ENST00000538189.1_Missense_Mutation_p.T41K|ARMC5_ENST00000457010.2_Missense_Mutation_p.T9K|ARMC5_ENST00000268314.4_Missense_Mutation_p.T9K|ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000408912.3_Missense_Mutation_p.T104K|RP11-452L6.5_ENST00000564629.1_RNA			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	9										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCAACCCTCACGGACTCGCTC	0.687																																						uc002ecc.2																			0				pancreas(1)	1						c.(25-27)ACG>AAG		armadillo repeat containing 5 isoform a							11.0	17.0	15.0					16																	31470871		2021	4169	6190	SO:0001583	missense	79798						binding	g.chr16:31470871C>A	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.26C>A	16.37:g.31470871C>A	ENSP00000456877:p.Thr9Lys					ARMC5_uc010vfn.1_Missense_Mutation_p.T104K|ARMC5_uc010vfo.1_Missense_Mutation_p.T41K|ARMC5_uc002eca.3_Missense_Mutation_p.T9K|ARMC5_uc010vfp.1_Missense_Mutation_p.T9K|ARMC5_uc002ecb.2_Missense_Mutation_p.T9K	p.T9K	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			1	555	+			9					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.26C>A	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	c	17.43	3.388324	0.61956	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.95	4.95	0.65309	.	.	.	.	.	T	0.56717	0.2004	L	0.44542	1.39	0.80722	D	1	P;P;P;P;D	0.58970	0.928;0.928;0.928;0.835;0.984	P;P;P;P;P	0.55965	0.497;0.497;0.497;0.497;0.788	T	0.49818	-0.8899	9	0.26408	T	0.33	.	13.5391	0.61664	0.0:1.0:0.0:0.0	.	41;41;104;9;9	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	K	104;41;9;9	ENSP00000386125:T104K;ENSP00000443995:T41K;ENSP00000268314:T9K;ENSP00000399561:T9K	ENSP00000268314:T9K	T	+	2	0	ARMC5	31378372	0.964000	0.33143	0.989000	0.46669	0.887000	0.51463	1.269000	0.33074	2.571000	0.86741	0.651000	0.88453	ACG		0.687	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742	
SPNS3	201305	broad.mit.edu	37	17	4337372	4337372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:4337372G>A	ENST00000355530.2	+	1	390	c.110G>A	c.(109-111)tGg>tAg	p.W37*	SPNS3_ENST00000333476.2_5'UTR|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	37					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.W37F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCCACCTCCTGGAGCCTGCCC	0.657																																						uc002fxt.2																			1	Substitution - Missense(1)		ovary(1)	large_intestine(1)	1						c.(109-111)TGG>TAG		spinster homolog 3							68.0	67.0	67.0					17																	4337372		2203	4300	6503	SO:0001587	stop_gained	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4337372G>A		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.110G>A	17.37:g.4337372G>A	ENSP00000347721:p.Trp37*					SPNS3_uc002fxu.2_5'UTR	p.W37*	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN			1	154	+			37					Q8IZ31	Nonsense_Mutation	SNP	ENST00000355530.2	37	c.110G>A	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	37	6.141477	0.97320	.	.	ENSG00000182557	ENST00000355530	.	.	.	4.91	4.91	0.64330	.	0.427582	0.23539	N	0.047091	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-15.5476	13.7962	0.63173	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000347721:W37X	W	+	2	0	SPNS3	4284121	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	4.161000	0.58170	2.726000	0.93360	0.655000	0.94253	TGG		0.657	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538	
TP53	7157	broad.mit.edu	37	17	7576910	7576910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:7576910delG	ENST00000269305.4	-	9	1125	c.936delC	c.(934-936)accfs	p.T312fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.T312fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.T312fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.T312fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.T312fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	312	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		T -> I (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(2)|p.T312T(2)|p.S313fs*24(2)|p.L308fs*15(1)|p.L308fs*31(1)|p.S313fs*32(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGAGGAGCTGGTGTTGTTGG	0.488		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		17	Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Substitution - coding silent(2)|Insertion - Frameshift(2)	p.0?(7)|p.T312S(4)|p.?(2)|p.T312T(2)|p.S313fs*24(2)|p.T312fs*25(1)|p.T312fs*33(1)|p.L308fs*15(1)|p.L308fs*31(1)|p.T312A(1)|p.S313fs*32(1)|p.T312I(1)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|urinary_tract(1)|oesophagus(1)|breast(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(934-936)ACCfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							132.0	121.0	125.0					17																	7576910		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7576910delG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.936delC	17.37:g.7576910delG	ENSP00000269305:p.Thr312fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.T312fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Del_p.T180fs|TP53_uc010cng.1_Frame_Shift_Del_p.T180fs|TP53_uc002gii.1_Frame_Shift_Del_p.T180fs|TP53_uc010cnh.1_Frame_Shift_Del_p.T312fs|TP53_uc010cni.1_Frame_Shift_Del_p.T312fs|TP53_uc002gij.2_Frame_Shift_Del_p.T312fs	p.T312fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1130	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	312		T -> I (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.936delC	CCDS11118.1																																																																																				0.488	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:39274424G>C	ENST00000391413.2	-	1	182	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.S48R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672																																						uc002hvz.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(142-144)AGC>AGG		keratin associated protein 4-11							11.0	16.0	14.0					17																	39274424		687	1589	2276	SO:0001583	missense	653240					keratin filament		g.chr17:39274424G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.144C>G	17.37:g.39274424G>C	ENSP00000375232:p.Ser48Arg						p.S48R	NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	183	-		Breast(137;0.000496)	48		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].|5.		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.144C>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	13.52	2.262143	0.39995	.	.	ENSG00000212721	ENST00000391413	T	0.01963	4.53	3.91	3.91	0.45181	.	0.663392	0.11138	N	0.595595	T	0.06826	0.0174	M	0.91717	3.235	0.27842	N	0.941075	B	0.21606	0.058	B	0.25614	0.062	T	0.08310	-1.0728	10	0.66056	D	0.02	.	7.305	0.26443	0.1194:0.0:0.8806:0.0	.	48	Q9BYQ6	KR411_HUMAN	R	48	ENSP00000375232:S48R	ENSP00000375232:S48R	S	-	3	2	KRTAP4-11	36527950	0.739000	0.28196	0.990000	0.47175	0.119000	0.20118	0.787000	0.26858	2.015000	0.59207	0.609000	0.83330	AGC		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1		
KRT34	3885	broad.mit.edu	37	17	39538605	39538605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:39538605delG	ENST00000394001.1	-	1	50	c.20delC	c.(19-21)ccafs	p.P8fs		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	8	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AATTGTGGGTGGGGGCTTGGC	0.458																																						uc002hwm.2																			0				central_nervous_system(1)	1						c.(19-21)CCAfs		keratin 34							72.0	72.0	72.0					17																	39538605		2203	4300	6503	SO:0001589	frameshift_variant	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39538605delG	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.20delC	17.37:g.39538605delG	ENSP00000377570:p.Pro8fs						p.P7fs	NM_021013	NP_066293	O76011	KRT34_HUMAN			1	32	-		Breast(137;0.000496)	7			Head.		Q8IUT8|Q8N4W2	Frame_Shift_Del	DEL	ENST00000394001.1	37	c.20delC	CCDS11390.1																																																																																				0.458	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013	
EVPL	2125	broad.mit.edu	37	17	74004095	74004095	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:74004095G>A	ENST00000301607.3	-	22	5444	c.5191C>T	c.(5191-5193)Ccc>Tcc	p.P1731S	EVPL_ENST00000586740.1_Missense_Mutation_p.P1753S|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1731	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCCCACAGGGCCCCGAGGTG	0.642																																						uc002jqi.2																			0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(5191-5193)CCC>TCC		envoplakin							53.0	54.0	53.0					17																	74004095		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74004095G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5191C>T	17.37:g.74004095G>A	ENSP00000301607:p.Pro1731Ser					EVPL_uc010wss.1_Missense_Mutation_p.P1753S|EVPL_uc010wst.1_Missense_Mutation_p.P1201S	p.P1731S	NM_001988	NP_001979	Q92817	EVPL_HUMAN			22	5419	-			1731			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5191C>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534750	0.45073	.	.	ENSG00000167880	ENST00000301607	T	0.63580	-0.05	4.94	4.94	0.65067	.	0.062210	0.64402	D	0.000004	T	0.48003	0.1476	N	0.25647	0.755	0.42552	D	0.993113	P;P	0.44578	0.838;0.802	B;B	0.39503	0.301;0.236	T	0.54470	-0.8289	10	0.54805	T	0.06	-38.4462	11.6352	0.51200	0.0816:0.0:0.9184:0.0	.	1753;1731	B7ZLH8;Q92817	.;EVPL_HUMAN	S	1731	ENSP00000301607:P1731S	ENSP00000301607:P1731S	P	-	1	0	EVPL	71515690	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	5.687000	0.68219	2.289000	0.77006	0.561000	0.74099	CCC		0.642	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
WDR7	23335	broad.mit.edu	37	18	54694330	54694330	+	Silent	SNP	G	G	A	rs547450912		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr18:54694330G>A	ENST00000254442.3	+	28	4576	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A	WDR7_ENST00000589935.1_Silent_p.A32A|WDR7-UT1_ENST00000592032.1_RNA|WDR7_ENST00000357574.3_Silent_p.A1422A	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1455					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCAGCCCGCGTCCCCCGGCT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18158	0.0		0.0	False		,,,				2504	0.001					uc002lgk.1																			0				ovary(2)|skin(1)	3						c.(4363-4365)GCG>GCA		rabconnectin-3 beta isoform 1							48.0	47.0	48.0					18																	54694330		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54694330G>A	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.4365G>A	18.37:g.54694330G>A						WDR7_uc002lgl.1_Silent_p.A1422A	p.A1455A	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	28	4576	+			1455					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.4365G>A	CCDS11962.1																																																																																				0.617	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1		
ZNF407	55628	broad.mit.edu	37	18	72345426	72345426	+	Silent	SNP	G	G	C	rs371806813		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr18:72345426G>C	ENST00000299687.5	+	1	2451	c.2451G>C	c.(2449-2451)gcG>gcC	p.A817A	ZNF407_ENST00000309902.6_Silent_p.A817A|ZNF407_ENST00000582337.1_Silent_p.A817A|ZNF407_ENST00000577538.1_Silent_p.A817A	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	817					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)		GCATGCTGGCGTCTGAGGAAC	0.438																																						uc002llw.2																			0				ovary(2)	2						c.(2449-2451)GCG>GCC		zinc finger protein 407 isoform 1							136.0	137.0	136.0					18																	72345426		2018	4176	6194	SO:0001819	synonymous_variant	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72345426G>C	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.2451G>C	18.37:g.72345426G>C						ZNF407_uc010xfc.1_Silent_p.A817A|ZNF407_uc010dqu.1_Silent_p.A817A|ZNF407_uc002llu.2_Silent_p.A816A	p.A817A	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	2508	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	817					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	c.2451G>C	CCDS45885.1																																																																																				0.438	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
C3	718	broad.mit.edu	37	19	6707242	6707242	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:6707242C>T	ENST00000245907.6	-	17	2182	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	697	Anaphylatoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00022}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTCCCGCATGCCGTCCTCGCA	0.667																																						uc002mfm.2																			0				skin(3)|ovary(1)|pancreas(1)	5						c.(2089-2091)GGC>GAC		complement component 3 precursor							36.0	33.0	34.0					19																	6707242		2198	4297	6495	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707242C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2090G>A	19.37:g.6707242C>T	ENSP00000245907:p.Gly697Asp						p.G697D	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	17	2152	-			697			Anaphylatoxin-like.		A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2090G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870795	0.72065	.	.	ENSG00000125730	ENST00000245907	T	0.79033	-1.23	4.85	4.85	0.62838	Complement C3a/C4a/C5a anaphylatoxin (1);Anaphylatoxin (2);Anaphylatoxin/fibulin (4);	0.000000	0.85682	D	0.000000	D	0.90844	0.7124	M	0.94063	3.49	0.53005	D	0.999965	D	0.76494	0.999	D	0.72075	0.976	D	0.93425	0.6780	10	0.87932	D	0	.	16.7222	0.85413	0.0:1.0:0.0:0.0	.	697	P01024	CO3_HUMAN	D	697	ENSP00000245907:G697D	ENSP00000245907:G697D	G	-	2	0	C3	6658242	1.000000	0.71417	0.980000	0.43619	0.248000	0.25809	7.133000	0.77259	2.244000	0.73946	0.591000	0.81541	GGC		0.667	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
ZNF440	126070	broad.mit.edu	37	19	11943173	11943173	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:11943173A>C	ENST00000304060.5	+	4	1346	c.1182A>C	c.(1180-1182)aaA>aaC	p.K394N		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGAGAGAAACCCTATGAGT	0.463																																						uc002msp.1																			0					0						c.(1180-1182)AAA>AAC		zinc finger protein 440							79.0	79.0	79.0					19																	11943173		2203	4300	6503	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943173A>C	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1182A>C	19.37:g.11943173A>C	ENSP00000305373:p.Lys394Asn						p.K394N	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			4	1338	+			394					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.1182A>C	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	a	14.90	2.672287	0.47781	.	.	ENSG00000171295	ENST00000304060	T	0.26067	1.76	1.19	1.19	0.21007	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44456	0.1294	M	0.81112	2.525	0.27750	N	0.944175	D	0.56968	0.978	P	0.59487	0.858	T	0.27673	-1.0067	9	0.87932	D	0	.	7.8119	0.29237	1.0:0.0:0.0:0.0	.	394	Q8IYI8	ZN440_HUMAN	N	394	ENSP00000305373:K394N	ENSP00000305373:K394N	K	+	3	2	ZNF440	11804173	0.012000	0.17670	0.438000	0.26821	0.061000	0.15899	-0.478000	0.06575	0.806000	0.34183	0.172000	0.16884	AAA		0.463	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357	
BCAM	4059	broad.mit.edu	37	19	45315773	45315773	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:45315773A>G	ENST00000270233.6	+	4	494	c.472A>G	c.(472-474)Aca>Gca	p.T158A	BCAM_ENST00000589651.1_Missense_Mutation_p.T158A	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	158	Ig-like V-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CAACAAAGGGACACTGTCTGT	0.647																																						uc002ozu.2																			0				skin(1)	1						c.(472-474)ACA>GCA		basal cell adhesion molecule isoform 1							69.0	57.0	61.0					19																	45315773		2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45315773A>G	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.472A>G	19.37:g.45315773A>G	ENSP00000270233:p.Thr158Ala					BCAM_uc002ozt.1_Missense_Mutation_p.T158A	p.T158A	NM_005581	NP_005572	P50895	BCAM_HUMAN			4	516	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	158			Extracellular (Potential).|Ig-like V-type 2.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.472A>G	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	2.955	-0.215811	0.06101	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.76060	-0.99;-0.99	3.79	3.79	0.43588	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.56688	0.2002	L	0.29908	0.895	0.21604	N	0.999623	B	0.26935	0.164	B	0.24394	0.053	T	0.42378	-0.9455	9	0.06236	T	0.91	-1.6118	9.0998	0.36662	1.0:0.0:0.0:0.0	.	158	P50895	BCAM_HUMAN	A	158	ENSP00000270233:T158A;ENSP00000375817:T158A	ENSP00000270233:T158A	T	+	1	0	BCAM	50007613	0.370000	0.25047	0.565000	0.28409	0.371000	0.29859	2.008000	0.40893	1.718000	0.51419	0.260000	0.18958	ACA		0.647	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581	
ZNF649	65251	broad.mit.edu	37	19	52394411	52394411	+	Silent	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:52394411G>C	ENST00000354957.3	-	5	1262	c.978C>G	c.(976-978)ggC>ggG	p.G326G	ZNF649_ENST00000600738.1_Silent_p.G298G|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTGAATGAAGCCTTTTCCAC	0.458																																						uc002pxy.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(976-978)GGC>GGG		zinc finger protein 649							165.0	129.0	141.0					19																	52394411		2203	4300	6503	SO:0001819	synonymous_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394411G>C	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.978C>G	19.37:g.52394411G>C						ZNF577_uc010ydf.1_5'Flank	p.G326G	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1246	-		all_neural(266;0.0602)	326			C2H2-type 6.		A8MYJ5|B2RDC4|Q9H9N2	Silent	SNP	ENST00000354957.3	37	c.978C>G	CCDS12843.1																																																																																				0.458	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074	
ZNF649	65251	broad.mit.edu	37	19	52394423	52394423	+	Silent	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:52394423T>C	ENST00000354957.3	-	5	1250	c.966A>G	c.(964-966)gaA>gaG	p.E322E	ZNF649_ENST00000600738.1_Silent_p.E294E|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTTTCCACATTCACTGCATG	0.458																																						uc002pxy.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(964-966)GAA>GAG		zinc finger protein 649							149.0	117.0	128.0					19																	52394423		2203	4300	6503	SO:0001819	synonymous_variant	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394423T>C	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.966A>G	19.37:g.52394423T>C						ZNF577_uc010ydf.1_5'Flank	p.E322E	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	1234	-		all_neural(266;0.0602)	322			C2H2-type 6.		A8MYJ5|B2RDC4|Q9H9N2	Silent	SNP	ENST00000354957.3	37	c.966A>G	CCDS12843.1																																																																																				0.458	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074	
KIR3DL1	3811	broad.mit.edu	37	19	55284980	55284980	+	Intron	SNP	G	G	A	rs543746914		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:55284980G>A	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000336077.6_Missense_Mutation_p.R89H|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R89H|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.R89H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCCATCAGTCGCATGACGCAA	0.537													.|||	1	0.000199681	0.0	0.0	5008	,	,		18723	0.001		0.0	False		,,,				2504	0.0					uc002qhb.1																			1	Substitution - Missense(1)		prostate(1)		0						c.(265-267)CGC>CAC		killer cell immunoglobulin-like receptor, two							254.0	223.0	233.0					19																	55284980		2178	4210	6388	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55284980G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-44009G>A	19.37:g.55284980G>A						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Missense_Mutation_p.R89H	p.R89H	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	3	304	+			89			Extracellular (Potential).|Ig-like C2-type 1.		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37	c.266G>A		.	.	.	.	.	.	.	.	.	.	a	7.047	0.563636	0.13498	.	.	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.23147	1.92;1.92	1.24	0.114	0.14639	.	.	.	.	.	T	0.12263	0.0298	N	0.11756	0.17	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.0;0.002	T	0.25187	-1.0139	9	0.66056	D	0.02	.	3.5284	0.07768	0.2873:0.4304:0.2823:0.0	.	89;89	Q6IST4;Q6H2H3	.;.	H	89	ENSP00000336769:R89H;ENSP00000291633:R89H	ENSP00000291633:R89H	R	+	2	0	KIR2DL1	59976792	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.081000	0.14823	-0.274000	0.09232	-2.943000	0.00086	CGC		0.537	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289	
ZNF586	54807	broad.mit.edu	37	19	58290731	58290731	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:58290731A>G	ENST00000396154.2	+	3	949	c.776A>G	c.(775-777)gAa>gGa	p.E259G	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000391702.3_Missense_Mutation_p.E216G	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACACAGGAGAAAGGCCTTAT	0.443																																						uc002qqd.2																			0				ovary(2)	2						c.(775-777)GAA>GGA		zinc finger protein 586							73.0	80.0	78.0					19																	58290731		2190	4298	6488	SO:0001583	missense	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58290731A>G	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.776A>G	19.37:g.58290731A>G	ENSP00000379458:p.Glu259Gly					ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_3'UTR|ZNF586_uc010euh.2_Missense_Mutation_p.E216G|ZNF586_uc002qqf.1_Intron	p.E259G	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	962	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	259					A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000396154.2	37	c.776A>G	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057091	0.76074	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154	T;T	0.27557	1.66;1.66	1.65	1.65	0.23941	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50514	0.1620	M	0.76170	2.325	0.29385	N	0.863005	D	0.76494	0.999	D	0.73708	0.981	T	0.43750	-0.9372	9	0.87932	D	0	.	8.1155	0.30940	1.0:0.0:0.0:0.0	.	259	Q9NXT0	ZN586_HUMAN	G	259;216;259	ENSP00000375583:E216G;ENSP00000379458:E259G	ENSP00000375583:E216G	E	+	2	0	ZNF586	62982543	0.996000	0.38824	0.316000	0.25252	0.539000	0.34962	3.576000	0.53878	0.732000	0.32470	0.533000	0.62120	GAA		0.443	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652	
WDR43	23160	broad.mit.edu	37	2	29158460	29158460	+	Missense_Mutation	SNP	C	C	T	rs376467674		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:29158460C>T	ENST00000407426.3	+	12	1567	c.1511C>T	c.(1510-1512)cCg>cTg	p.P504L		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	504						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ACTATTATTCCGTTGTTACAA	0.328																																						uc002rmo.2																			0				ovary(1)	1						c.(1510-1512)CCG>CTG		WD repeat domain 43		C	LEU/PRO	1,3663		0,1,1831	110.0	101.0	104.0		1511	5.7	1.0	2		104	0,8158		0,0,4079	no	missense	WDR43	NM_015131.1	98	0,1,5910	TT,TC,CC		0.0,0.0273,0.0085	probably-damaging	504/678	29158460	1,11821	1832	4079	5911	SO:0001583	missense	23160					nucleolus		g.chr2:29158460C>T	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1511C>T	2.37:g.29158460C>T	ENSP00000384302:p.Pro504Leu						p.P504L	NM_015131	NP_055946	Q15061	WDR43_HUMAN			12	1543	+	Acute lymphoblastic leukemia(172;0.155)		504					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.1511C>T	CCDS46251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.15|17.15	3.316522|3.316522	0.60524|0.60524	2.73E-4|2.73E-4	0.0|0.0	ENSG00000163811|ENSG00000163811	ENST00000407426|ENST00000446643	T|.	0.68025|.	-0.3|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76485|0.76485	0.3994|0.3994	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	P|.	0.62435|.	0.902|.	T|T	0.73972|0.73972	-0.3814|-0.3814	10|5	0.22109|.	T|.	0.4|.	-13.307|-13.307	19.7203|19.7203	0.96139|0.96139	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	504|.	Q15061|.	WDR43_HUMAN|.	L|C	504|56	ENSP00000384302:P504L|.	ENSP00000384302:P504L|.	P|R	+|+	2|1	0|0	WDR43|WDR43	29011964|29011964	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.315000|0.315000	0.28087|0.28087	5.634000|5.634000	0.67833|0.67833	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.328	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089	
THADA	63892	broad.mit.edu	37	2	43804328	43804328	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:43804328A>T	ENST00000405006.4	-	10	1221	c.870T>A	c.(868-870)ttT>ttA	p.F290L	THADA_ENST00000404790.1_Missense_Mutation_p.F290L|THADA_ENST00000405975.2_Missense_Mutation_p.F290L|THADA_ENST00000330266.7_5'Flank|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000403856.1_Missense_Mutation_p.F290L|THADA_ENST00000402360.2_Missense_Mutation_p.F290L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	290										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCTGCTCATAAACCACTCGG	0.478											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002rsw.3																			0				ovary(2)|skin(1)	3						c.(868-870)TTT>TTA		thyroid adenoma associated							28.0	29.0	29.0					2																	43804328		1971	4170	6141	SO:0001583	missense	63892						binding	g.chr2:43804328A>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.870T>A	2.37:g.43804328A>T	ENSP00000385995:p.Phe290Leu		OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	919	THADA_uc002rsx.3_Missense_Mutation_p.F290L|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.2_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.F290L|THADA_uc002rtc.3_Missense_Mutation_p.F290L|THADA_uc002rtd.2_Missense_Mutation_p.F290L	p.F290L	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN			10	1222	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	290					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	ENST00000405006.4	37	c.870T>A	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	A	1.953	-0.440644	0.04636	.	.	ENSG00000115970	ENST00000405975;ENST00000356975;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T	0.27104	3.13;3.13;1.76;1.74;1.69	5.28	-0.77	0.11005	.	0.419335	0.26180	N	0.025874	T	0.11965	0.0291	N	0.04705	-0.18	0.80722	D	1	B;B;B;B	0.20671	0.047;0.011;0.008;0.007	B;B;B;B	0.21708	0.036;0.016;0.023;0.007	T	0.11275	-1.0594	10	0.36615	T	0.2	0.0339	12.8375	0.57782	0.3349:0.0:0.6651:0.0	.	290;290;290;290	B5MC89;Q8IY32;Q6YHU6-5;Q6YHU6	.;.;.;THADA_HUMAN	L	290	ENSP00000386088:F290L;ENSP00000385995:F290L;ENSP00000385441:F290L;ENSP00000384266:F290L;ENSP00000385469:F290L	ENSP00000349464:F290L	F	-	3	2	THADA	43657832	0.000000	0.05858	0.039000	0.18376	0.129000	0.20672	-0.560000	0.05964	0.064000	0.16427	0.459000	0.35465	TTT		0.478	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
SLC3A1	6519	broad.mit.edu	37	2	44528234	44528234	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:44528234G>C	ENST00000260649.6	+	6	1180	c.1104G>C	c.(1102-1104)atG>atC	p.M368I	SLC3A1_ENST00000409741.1_Missense_Mutation_p.M368I|SLC3A1_ENST00000410056.3_Missense_Mutation_p.M368I|SLC3A1_ENST00000409380.1_Missense_Mutation_p.M90I|SLC3A1_ENST00000409740.3_5'Flank|SLC3A1_ENST00000409229.3_Missense_Mutation_p.M368I|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409387.1_Missense_Mutation_p.M368I	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	368					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGCAGACCATGGACCAATACA	0.532																																						uc002ruc.3																			0					0						c.(1102-1104)ATG>ATC		solute carrier family 3, member 1	L-Cystine(DB00138)						116.0	95.0	102.0					2																	44528234		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44528234G>C		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1104G>C	2.37:g.44528234G>C	ENSP00000260649:p.Met368Ile					SLC3A1_uc002rty.2_Missense_Mutation_p.M368I|SLC3A1_uc002rtz.2_Missense_Mutation_p.M368I|SLC3A1_uc002rua.2_Missense_Mutation_p.M368I|SLC3A1_uc002rub.2_Missense_Mutation_p.M368I|SLC3A1_uc002rud.3_Missense_Mutation_p.M90I|SLC3A1_uc002rue.3_5'Flank	p.M368I	NM_000341	NP_000332	Q07837	SLC31_HUMAN			6	1182	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	368			Extracellular (Potential).		A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.1104G>C	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	G	8.160	0.789280	0.16258	.	.	ENSG00000138079	ENST00000260649;ENST00000409387;ENST00000540334;ENST00000410056;ENST00000409741;ENST00000409229;ENST00000541289;ENST00000409380	D;D;D;D;D;D	0.99399	-5.83;-5.83;-4.85;-5.83;-5.83;-5.83	5.26	5.26	0.73747	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.115096	0.85682	D	0.000000	D	0.96999	0.9020	N	0.16130	0.375	0.80722	D	1	B;B;P;B;P	0.39576	0.195;0.195;0.679;0.3;0.478	B;B;B;B;B	0.36959	0.152;0.065;0.237;0.096;0.129	D	0.97250	0.9897	10	0.36615	T	0.2	-24.2402	12.7279	0.57180	0.0:0.0:0.8354:0.1646	.	368;368;368;368;368	Q07837;B8ZZK1;Q4J6B5;Q4J6B6;Q4J6B8	SLC31_HUMAN;.;.;.;.	I	368;368;304;368;368;368;368;90	ENSP00000260649:M368I;ENSP00000387308:M368I;ENSP00000387337:M368I;ENSP00000386954:M368I;ENSP00000386620:M368I;ENSP00000386709:M90I	ENSP00000260649:M368I	M	+	3	0	SLC3A1	44381738	1.000000	0.71417	0.063000	0.19743	0.016000	0.09150	5.526000	0.67116	2.460000	0.83146	0.467000	0.42956	ATG		0.532	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341	
ACVR1	90	broad.mit.edu	37	2	158626971	158626971	+	Silent	SNP	G	G	A	rs182542928		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:158626971G>A	ENST00000263640.3	-	7	1128	c.699C>T	c.(697-699)gcC>gcT	p.A233A	ACVR1_ENST00000410057.2_Silent_p.A233A|ACVR1_ENST00000409283.2_Silent_p.A233A|ACVR1_ENST00000434821.1_Silent_p.A233A	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|acute inflammatory response (GO:0002526)|atrial septum primum morphogenesis (GO:0003289)|BMP signaling pathway (GO:0030509)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to glucocorticoid stimulus (GO:0071385)|determination of left/right symmetry (GO:0007368)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion cell fate commitment (GO:0061445)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation with mouth forming second (GO:0001702)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|mesoderm formation (GO:0001707)|mitral valve morphogenesis (GO:0003183)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of signal transduction (GO:0009968)|neural crest cell migration (GO:0001755)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of bone mineralization (GO:0030501)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of ossification (GO:0030278)|regulation of skeletal muscle tissue development (GO:0048641)|smooth muscle cell differentiation (GO:0051145)|transforming growth factor beta receptor signaling pathway (GO:0007179)|urogenital system development (GO:0001655)	activin receptor complex (GO:0048179)|apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)	activin binding (GO:0048185)|activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AGATCTTCACGGCAACATTCT	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17486	0.0		0.0	False		,,,				2504	0.0					uc002tzm.3																			0				ovary(2)|skin(1)	3						c.(697-699)GCC>GCT		activin A receptor, type I precursor	Adenosine triphosphate(DB00171)						166.0	133.0	144.0					2																	158626971		2203	4300	6503	SO:0001819	synonymous_variant	90				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding	g.chr2:158626971G>A		CCDS2206.1	2q23-q24	2008-06-13			ENSG00000115170	ENSG00000115170			171	protein-coding gene	gene with protein product		102576		ACVRLK2		8397373	Standard	NM_001105		Approved	SKR1, ALK2, ACVR1A	uc010fog.2	Q04771	OTTHUMG00000131967	ENST00000263640.3:c.699C>T	2.37:g.158626971G>A						ACVR1_uc002tzn.3_Silent_p.A233A|ACVR1_uc010fog.2_Silent_p.A233A	p.A233A	NM_001111067	NP_001104537	Q04771	ACVR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.104)	8	1038	-			233			Cytoplasmic (Potential).|Protein kinase.			Silent	SNP	ENST00000263640.3	37	c.699C>T	CCDS2206.1																																																																																				0.463	ACVR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254927.1	NM_001105	
TTN	7273	broad.mit.edu	37	2	179528601	179528601	+	Intron	SNP	G	G	A	rs555029471		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:179528601G>A	ENST00000591111.1	-	154	34489				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Silent_p.R12131R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			CTTTCTCTTCGCGGATAACCT	0.423																																						uc010zfk.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(829-831)CGC>CGT		SubName: Full=Titin; Flags: Fragment;							302.0	279.0	286.0					2																	179528601		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528601G>A	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.34265-5080C>T	2.37:g.179528601G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.R277R			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		15	1379	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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	Silent	SNP	ENST00000591111.1	37	c.831C>T		.	.	.	.	.	.	.	.	.	.	G	3.244	-0.154643	0.06544	.	.	ENSG00000155657	ENST00000425332	.	.	.	4.73	-2.3	0.06785	.	.	.	.	.	T	0.25005	0.0607	.	.	.	0.31270	N	0.691856	.	.	.	.	.	.	T	0.37478	-0.9704	4	.	.	.	.	1.5619	0.02596	0.4299:0.1025:0.2781:0.1895	.	.	.	.	V	195	.	.	A	-	2	0	TTN	179236846	0.000000	0.05858	0.858000	0.33744	0.001000	0.01503	-3.549000	0.00434	-0.012000	0.14223	-1.445000	0.01065	GCG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179575886	179575886	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:179575886A>C	ENST00000591111.1	-	95	27350	c.27126T>G	c.(27124-27126)aaT>aaG	p.N9042K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N9359K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N8115K			Q8WZ42	TITIN_HUMAN	titin	13180	Ig-like 73.				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)			TTTTAAAAATATTGAGTGTGG	0.448																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(24343-24345)AAT>AAG		titin isoform N2-A							157.0	157.0	157.0					2																	179575886		1850	4096	5946	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179575886A>C	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.27126T>G	2.37:g.179575886A>C	ENSP00000465570:p.Asn9042Lys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4776K	p.N8115K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		94	24569	-			9042					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.24345T>G		.	.	.	.	.	.	.	.	.	.	A	12.62	1.993510	0.35131	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.76	-3.77	0.04346	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31827	0.0809	N	0.03177	-0.4	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.01273	-1.1399	9	0.87932	D	0	.	5.8968	0.18943	0.2634:0.1695:0.4748:0.0922	.	9042	Q8WZ42	TITIN_HUMAN	K	8115	ENSP00000343764:N8115K	ENSP00000343764:N8115K	N	-	3	2	TTN	179284131	0.302000	0.24454	0.823000	0.32752	0.959000	0.62525	-0.111000	0.10807	-0.863000	0.04084	0.533000	0.62120	AAT		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
NCKAP1	10787	broad.mit.edu	37	2	183860521	183860521	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:183860521T>C	ENST00000361354.4	-	7	1021	c.649A>G	c.(649-651)Agg>Ggg	p.R217G	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R223G	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	217					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAAAGATTCCTTCGAGGATAT	0.373																																						uc002upc.2																			0				ovary(2)	2						c.(649-651)AGG>GGG		NCK-associated protein 1 isoform 1							108.0	108.0	108.0					2																	183860521		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183860521T>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.649A>G	2.37:g.183860521T>C	ENSP00000355348:p.Arg217Gly					NCKAP1_uc002upb.2_Missense_Mutation_p.R223G	p.R217G	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		7	1051	-			217					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.649A>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.792064	0.70452	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.35973	1.28;1.28	5.84	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.63604	0.2525	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.966	T	0.68988	-0.5264	10	0.59425	D	0.04	-12.9357	13.2405	0.59994	0.0:0.0:0.3519:0.648	.	217;223	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	G	217;223	ENSP00000355348:R217G;ENSP00000354251:R223G	ENSP00000354251:R223G	R	-	1	2	NCKAP1	183568766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.913000	0.39956	1.019000	0.39547	0.528000	0.53228	AGG		0.373	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						c.(394-396)CGT>CAT		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	641	-			132		R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		Substrate.	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
GPBAR1	151306	broad.mit.edu	37	2	219128407	219128410	+	Frame_Shift_Del	DEL	CAGC	CAGC	-			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:219128407_219128410delCAGC	ENST00000522678.1	+	2	1828_1831	c.960_963delCAGC	c.(958-963)agcagcfs	p.SS320fs	GPBAR1_ENST00000479077.1_Frame_Shift_Del_p.SS320fs|GPBAR1_ENST00000519574.1_Frame_Shift_Del_p.SS320fs|GPBAR1_ENST00000521462.1_Frame_Shift_Del_p.SS320fs	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	320					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCACCCAAGCAGCCAAAGCAGTG	0.642																																						uc010zjw.1																			0				ovary(1)	1						c.(958-963)AGCAGCfs		G protein-coupled bile acid receptor 1																																				SO:0001589	frameshift_variant	151306					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:219128407_219128410delCAGC	AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.960_963delCAGC	2.37:g.219128407_219128410delCAGC	ENSP00000430886:p.Ser320fs					GPBAR1_uc010zjx.1_Frame_Shift_Del_p.S320fs|GPBAR1_uc010zjy.1_Frame_Shift_Del_p.S320fs	p.S320fs	NM_170699	NP_733800	Q8TDU6	GPBAR_HUMAN		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	1207_1210	+		Renal(207;0.0474)	320_321			Cytoplasmic (Potential).		B3KV35	Frame_Shift_Del	DEL	ENST00000522678.1	37	c.960_963delCAGC	CCDS46515.1																																																																																				0.642	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338767.3	NM_001077191	
BCS1L	617	broad.mit.edu	37	2	219527689	219527689	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:219527689C>T	ENST00000431802.1	+	7	1672	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	BCS1L_ENST00000412366.1_Missense_Mutation_p.R325C|BCS1L_ENST00000392109.1_Missense_Mutation_p.R325C|BCS1L_ENST00000392111.2_Missense_Mutation_p.R325C|BCS1L_ENST00000392110.2_Missense_Mutation_p.R325C|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000439945.1_Missense_Mutation_p.R325C|BCS1L_ENST00000359273.3_Missense_Mutation_p.R325C			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	325					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGAGGCCCGCATCGTGTT	0.577																																						uc002vio.2																			0					0						c.(973-975)CGC>TGC		BCS1-like							115.0	101.0	105.0					2																	219527689		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219527689C>T	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.973C>T	2.37:g.219527689C>T	ENSP00000413908:p.Arg325Cys					BCS1L_uc002vip.2_Missense_Mutation_p.R325C|BCS1L_uc002viq.2_Missense_Mutation_p.R325C|BCS1L_uc010fvu.2_Missense_Mutation_p.R325C|BCS1L_uc010fvv.2_Missense_Mutation_p.R325C|BCS1L_uc002vir.2_Missense_Mutation_p.R325C|BCS1L_uc002vis.2_Missense_Mutation_p.R325C	p.R325C	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1391	+		Renal(207;0.0474)	325			Mitochondrial matrix (Potential).		B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.973C>T	CCDS2419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.42|14.42	2.529030|2.529030	0.44969|0.44969	.|.	.|.	ENSG00000074582|ENSG00000074582	ENST00000426649|ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	.|D;D;D;D;D;D;D	.|0.92752	.|-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	4.94|4.94	4.06|4.06	0.47325|0.47325	.|ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96275|0.96275	0.8785|0.8785	M|M	0.92459|0.92459	3.31|3.31	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95801|0.95801	0.8833|0.8833	5|10	.|0.66056	.|D	.|0.02	-5.3098|-5.3098	8.5631|8.5631	0.33523|0.33523	0.1867:0.7312:0.0:0.0822|0.1867:0.7312:0.0:0.0822	.|.	.|325	.|Q9Y276	.|BCS1_HUMAN	L|C	106|325	.|ENSP00000352219:R325C;ENSP00000375957:R325C;ENSP00000375958:R325C;ENSP00000375959:R325C;ENSP00000406494:R325C;ENSP00000404999:R325C;ENSP00000413908:R325C	.|ENSP00000352219:R325C	P|R	+|+	2|1	0|0	BCS1L|BCS1L	219235933|219235933	0.370000|0.370000	0.25047|0.25047	0.967000|0.967000	0.41034|0.41034	0.186000|0.186000	0.23388|0.23388	1.137000|1.137000	0.31479|0.31479	1.302000|1.302000	0.44855|0.44855	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.577	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328	
ANO7	50636	broad.mit.edu	37	2	242147068	242147068	+	Missense_Mutation	SNP	G	G	A	rs137878201		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:242147068G>A	ENST00000274979.8	+	11	1325	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T	ANO7_ENST00000402430.3_Missense_Mutation_p.A407T	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	408					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCTCTCCAGCGCCTGTGCCCT	0.622																																						uc002wax.2																			0				pancreas(2)|central_nervous_system(1)	3						c.(1222-1224)GCC>ACC		transmembrane protein 16G isoform NGEP long		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	91.0	86.0	88.0		1222	-0.6	0.2	2	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ANO7	NM_001001891.3	58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	408/934	242147068	2,13004	2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242147068G>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1222G>A	2.37:g.242147068G>A	ENSP00000274979:p.Ala408Thr						p.A408T	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			11	1325	+			408			Extracellular (Potential).		Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.1222G>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.355048	0.00217	2.27E-4	1.16E-4	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.69175	-0.27;-0.38	2.49	-0.572	0.11745	.	0.903236	0.09240	N	0.829372	T	0.38904	0.1058	N	0.16266	0.395	0.24836	N	0.992495	B	0.28258	0.205	B	0.15870	0.014	T	0.25398	-1.0133	10	0.02654	T	1	.	6.5956	0.22672	0.5116:0.0:0.4884:0.0	.	408	Q6IWH7	ANO7_HUMAN	T	408;407	ENSP00000274979:A408T;ENSP00000385418:A407T	ENSP00000274979:A408T	A	+	1	0	ANO7	241795741	0.052000	0.20516	0.153000	0.22517	0.127000	0.20565	0.092000	0.15066	-0.049000	0.13379	0.313000	0.20887	GCC		0.622	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891	
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						uc010ztl.1																			4	Substitution - coding silent(4)		urinary_tract(2)|kidney(2)		0						c.(193-195)GGG>GGC		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001819	synonymous_variant	284802							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Silent_p.G17G	p.G65G							3	227	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.195G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
DNMT3B	1789	broad.mit.edu	37	20	31368258	31368258	+	Silent	SNP	C	C	T	rs377301092		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr20:31368258C>T	ENST00000328111.2	+	2	450	c.129C>T	c.(127-129)acC>acT	p.T43T	DNMT3B_ENST00000348286.2_Silent_p.T43T|DNMT3B_ENST00000353855.2_Silent_p.T43T|DNMT3B_ENST00000443239.3_Silent_p.T43T|DNMT3B_ENST00000375623.4_Silent_p.T43T|DNMT3B_ENST00000456297.2_Silent_p.T43T|DNMT3B_ENST00000201963.3_Silent_p.T55T|DNMT3B_ENST00000344505.4_Silent_p.T43T	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	43	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTATCCGCACCCCGGAGATCA	0.652																																						uc002wyc.2																			0				lung(3)|ovary(2)	5						c.(127-129)ACC>ACT		DNA cytosine-5 methyltransferase 3 beta isoform		C	,,,,,	1,4403		0,1,2201	23.0	26.0	25.0		129,129,129,129,129,165	3.3	1.0	20		25	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DNMT3B	NM_001207055.1,NM_001207056.1,NM_006892.3,NM_175848.1,NM_175849.1,NM_175850.2	,,,,,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	,,,,,	43/729,43/695,43/854,43/834,43/771,55/846	31368258	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31368258C>T		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.129C>T	20.37:g.31368258C>T						DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Silent_p.T43T|DNMT3B_uc002wye.2_Silent_p.T43T|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Silent_p.T43T|DNMT3B_uc010zua.1_Silent_p.T43T|DNMT3B_uc002wyf.2_Silent_p.T55T	p.T43T	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			2	450	+			43			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Silent	SNP	ENST00000328111.2	37	c.129C>T	CCDS13205.1																																																																																				0.652	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892	
SULF2	55959	broad.mit.edu	37	20	46307466	46307466	+	Missense_Mutation	SNP	C	C	T	rs373572802		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr20:46307466C>T	ENST00000359930.4	-	8	1998	c.1147G>A	c.(1147-1149)Ggg>Agg	p.G383R	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000467815.1_Missense_Mutation_p.G383R|SULF2_ENST00000484875.1_Missense_Mutation_p.G383R|SULF2_ENST00000361612.4_Missense_Mutation_p.G383R	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	383					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATGGATTTCCCGTCCATATCC	0.617																																						uc002xto.2																			0				ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1147-1149)GGG>AGG		sulfatase 2 isoform a precursor							131.0	120.0	124.0					20																	46307466		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46307466C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1147G>A	20.37:g.46307466C>T	ENSP00000353007:p.Gly383Arg					SULF2_uc002xtr.2_Missense_Mutation_p.G383R|SULF2_uc002xtq.2_Missense_Mutation_p.G383R	p.G383R	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			8	1477	-			383					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1147G>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.328399	0.81690	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99820	-6.93;-6.93;-6.93;-6.93	5.37	4.41	0.53225	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.047549	0.85682	N	0.000000	D	0.99898	0.9951	H	0.99090	4.425	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61874	0.831;0.895	D	0.96186	0.9134	10	0.87932	D	0	-22.684	15.9434	0.79776	0.0:0.8645:0.1355:0.0	.	383;383	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	R	383	ENSP00000353007:G383R;ENSP00000418290:G383R;ENSP00000354662:G383R;ENSP00000418442:G383R	ENSP00000353007:G383R	G	-	1	0	SULF2	45740873	1.000000	0.71417	0.996000	0.52242	0.656000	0.38851	7.815000	0.86186	1.236000	0.43740	0.457000	0.33378	GGG		0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837	
CHODL	140578	broad.mit.edu	37	21	19638284	19638284	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr21:19638284A>G	ENST00000299295.2	+	6	1142	c.751A>G	c.(751-753)Aaa>Gaa	p.K251E	CHODL_ENST00000400127.1_Missense_Mutation_p.K210E|CHODL_ENST00000543733.1_Missense_Mutation_p.K232E|CHODL_ENST00000400128.1_Missense_Mutation_p.K210E|CHODL_ENST00000400131.1_Silent_p.Q175Q|CHODL_ENST00000400135.1_Silent_p.Q175Q|CHODL_ENST00000338326.3_Silent_p.Q175Q	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	251					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AGGAAGAACAAAAACTAGTCC	0.343																																						uc002ykv.2																			0				upper_aerodigestive_tract(1)	1						c.(751-753)AAA>GAA		chondrolectin precursor							77.0	79.0	78.0					21																	19638284		2203	4300	6503	SO:0001583	missense	140578				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	g.chr21:19638284A>G	AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.751A>G	21.37:g.19638284A>G	ENSP00000299295:p.Lys251Glu					CHODL_uc002ykr.2_Missense_Mutation_p.K210E|CHODL_uc002yks.2_Missense_Mutation_p.K210E|CHODL_uc002ykt.2_Silent_p.Q175Q|CHODL_uc002yku.2_Silent_p.Q175Q	p.K251E	NM_024944	NP_079220	Q9H9P2	CHODL_HUMAN		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)	6	1142	+		all_epithelial(11;0.21)	251			Cytoplasmic (Potential).		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	ENST00000299295.2	37	c.751A>G	CCDS13570.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181396	0.38511	.	.	ENSG00000154645	ENST00000400128;ENST00000400127;ENST00000299295;ENST00000543733	T;T;T;T	0.17213	2.3;2.3;2.29;2.29	5.18	3.95	0.45737	.	0.201079	0.50627	D	0.000104	T	0.10594	0.0259	.	.	.	0.80722	D	1	P	0.35745	0.518	B	0.28385	0.089	T	0.18241	-1.0343	8	.	.	.	-8.3979	11.2685	0.49124	0.8475:0.1525:0.0:0.0	.	251	Q9H9P2	CHODL_HUMAN	E	210;210;251;232	ENSP00000382993:K210E;ENSP00000382992:K210E;ENSP00000299295:K251E;ENSP00000443566:K232E	.	K	+	1	0	CHODL	18560155	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.247000	0.65416	2.091000	0.63221	0.533000	0.62120	AAA		0.343	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158232.1	NM_024944	
POTEH	23784	broad.mit.edu	37	22	16287511	16287511	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:16287511G>A	ENST00000343518.6	-	1	426	c.375C>T	c.(373-375)gaC>gaT	p.D125D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	125										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCATAGCAGAGTCGTCGTGGT	0.612																																						uc010gqp.2																			0				skin(1)	1						c.(373-375)GAC>GAT		ANKRD26-like family C, member 3							65.0	75.0	71.0					22																	16287511		1945	3711	5656	SO:0001819	synonymous_variant	23784							g.chr22:16287511G>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.375C>T	22.37:g.16287511G>A						POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	p.D125D	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	427	-			125					A2CEK4|A6NCI1|A9Z1W0	Silent	SNP	ENST00000343518.6	37	c.375C>T	CCDS46658.1																																																																																				0.612	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213	
MYO18B	84700	broad.mit.edu	37	22	26291213	26291213	+	Missense_Mutation	SNP	C	C	T	rs537916951		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:26291213C>T	ENST00000407587.2	+	28	4806	c.4637C>T	c.(4636-4638)tCg>tTg	p.S1546L	CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.S1545L|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.S1545L|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1545	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCTGGACTCGGAGCTGACA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		20013	0.001		0.0	False		,,,				2504	0.0					uc003abz.1																			0				ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(4633-4635)TCG>TTG		myosin XVIIIB							31.0	36.0	34.0					22																	26291213		2104	4240	6344	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26291213C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4637C>T	22.37:g.26291213C>T	ENSP00000386096:p.Ser1546Leu					MYO18B_uc003aca.1_Missense_Mutation_p.S1426L|MYO18B_uc010guy.1_Missense_Mutation_p.S1427L|MYO18B_uc010guz.1_Missense_Mutation_p.S1425L|MYO18B_uc011aka.1_Missense_Mutation_p.S699L|MYO18B_uc011akb.1_Missense_Mutation_p.S1058L	p.S1545L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			28	4884	+			1545			Potential.|Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.4634C>T		.	.	.	.	.	.	.	.	.	.	C	15.85	2.954992	0.53293	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;T	0.87571	-2.27;-2.27;-1.16	5.26	4.24	0.50183	.	0.669471	0.13207	N	0.405441	D	0.89574	0.6754	M	0.62723	1.935	0.28789	N	0.899433	D;D;D;D	0.65815	0.993;0.988;0.995;0.993	P;P;P;P	0.54499	0.615;0.52;0.754;0.713	T	0.83223	-0.0067	10	0.49607	T	0.09	.	11.951	0.52954	0.0:0.9153:0.0:0.0847	.	1058;1545;1546;1545	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	L	1545;1545;1546	ENSP00000441229:S1545L;ENSP00000334563:S1545L;ENSP00000386096:S1546L	ENSP00000334563:S1545L	S	+	2	0	MYO18B	24621213	0.652000	0.27349	0.965000	0.40720	0.189000	0.23516	2.018000	0.40991	1.242000	0.43836	-0.219000	0.12488	TCG		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
SF3A1	10291	broad.mit.edu	37	22	30738811	30738811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:30738811G>A	ENST00000215793.8	-	5	863	c.709C>T	c.(709-711)Cga>Tga	p.R237*	SF3A1_ENST00000439242.1_Nonsense_Mutation_p.R172*	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	237					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AAAACTTCTCGGGGGTTTTCA	0.408																																						uc003ahl.2																			0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(709-711)CGA>TGA		splicing factor 3a, subunit 1, 120kDa isoform 1							97.0	100.0	99.0					22																	30738811		2203	4300	6503	SO:0001587	stop_gained	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30738811G>A	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.709C>T	22.37:g.30738811G>A	ENSP00000215793:p.Arg237*						p.R237*	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			5	841	-			237					E9PAW1	Nonsense_Mutation	SNP	ENST00000215793.8	37	c.709C>T	CCDS13875.1	.	.	.	.	.	.	.	.	.	.	G	36	5.804975	0.96967	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049	.	.	.	5.33	4.26	0.50523	.	0.244896	0.38436	N	0.001697	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-5.4	13.049	0.58944	0.0:0.0:0.7179:0.2821	.	.	.	.	X	172;237;134	.	ENSP00000215793:R237X	R	-	1	2	SF3A1	29068811	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.781000	0.47750	2.654000	0.90174	0.561000	0.74099	CGA		0.408	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877	
GGA1	26088	broad.mit.edu	37	22	38016850	38016850	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:38016850A>G	ENST00000343632.4	+	6	844	c.458A>G	c.(457-459)gAt>gGt	p.D153G	GGA1_ENST00000381756.5_Missense_Mutation_p.D170G|GGA1_ENST00000325180.8_Missense_Mutation_p.D153G|GGA1_ENST00000337437.4_Missense_Mutation_p.D120G|GGA1_ENST00000406772.1_Missense_Mutation_p.D80G	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	153	Interaction with ARF3.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AAGCTTCCAGATGACACTACC	0.522																																						uc003atc.2																			0				breast(2)|ovary(1)	3						c.(457-459)GAT>GGT		golgi associated, gamma adaptin ear containing,							160.0	130.0	140.0					22																	38016850		2203	4300	6503	SO:0001583	missense	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38016850A>G	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.458A>G	22.37:g.38016850A>G	ENSP00000341344:p.Asp153Gly					GGA1_uc003atd.2_Missense_Mutation_p.D153G|GGA1_uc003ate.2_Missense_Mutation_p.D153G|GGA1_uc003atf.2_Missense_Mutation_p.D80G	p.D153G	NM_013365	NP_037497	Q9UJY5	GGA1_HUMAN			6	823	+	Melanoma(58;0.0574)		153			Interaction with ARF3.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	ENST00000343632.4	37	c.458A>G	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407562	0.42715	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000429218;ENST00000325180;ENST00000337437;ENST00000449944;ENST00000406772;ENST00000413251;ENST00000423024	T;T;T;T;T;T	0.34072	2.36;2.1;2.42;1.45;1.43;1.38	5.56	5.56	0.83823	.	0.643940	0.16052	N	0.231930	T	0.34890	0.0913	L	0.55481	1.735	0.31061	N	0.714093	B;B;B	0.24368	0.038;0.102;0.002	B;B;B	0.26517	0.066;0.07;0.004	T	0.33343	-0.9872	10	0.27082	T	0.32	-5.9801	11.668	0.51385	0.852:0.148:0.0:0.0	.	170;153;153	Q6IC75;Q86YA9;Q9UJY5	.;.;GGA1_HUMAN	G	153;170;80;153;120;145;80;80;80	ENSP00000341344:D153G;ENSP00000371175:D170G;ENSP00000321288:D153G;ENSP00000338647:D120G;ENSP00000390416:D145G;ENSP00000385287:D80G	ENSP00000321288:D153G	D	+	2	0	GGA1	36346796	0.776000	0.28616	0.708000	0.30435	0.978000	0.69477	2.449000	0.44935	2.102000	0.63906	0.460000	0.39030	GAT		0.522	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365	
FGD5	152273	broad.mit.edu	37	3	14862089	14862089	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:14862089A>G	ENST00000285046.5	+	1	1621	c.1511A>G	c.(1510-1512)gAg>gGg	p.E504G	FGD5_ENST00000543601.1_Missense_Mutation_p.E263G	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	504					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACCGGACCTGAGGCGGGCTCG	0.637																																						uc003bzc.2																			0				ovary(3)|kidney(1)|pancreas(1)	5						c.(1510-1512)GAG>GGG		FYVE, RhoGEF and PH domain containing 5							30.0	33.0	32.0					3																	14862089		1910	4118	6028	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862089A>G	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1511A>G	3.37:g.14862089A>G	ENSP00000285046:p.Glu504Gly					FGD5_uc011avk.1_Missense_Mutation_p.E504G	p.E504G	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	1621	+			504					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1511A>G	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254128	0.80135	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.80393	-1.37;-1.22	4.86	4.86	0.63082	.	0.000000	0.56097	D	0.000040	D	0.88588	0.6477	M	0.73598	2.24	0.52501	D	0.999959	D;D	0.76494	0.996;0.999	D;D	0.70227	0.937;0.968	D	0.90122	0.4200	10	0.87932	D	0	-24.0922	14.4777	0.67559	1.0:0.0:0.0:0.0	.	263;504	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	G	504;263	ENSP00000285046:E504G;ENSP00000445949:E263G	ENSP00000285046:E504G	E	+	2	0	FGD5	14837093	1.000000	0.71417	0.246000	0.24233	0.006000	0.05464	5.416000	0.66417	1.830000	0.53286	0.528000	0.53228	GAG		0.637	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
KALRN	8997	broad.mit.edu	37	3	124438292	124438292	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:124438292T>C	ENST00000291478.5	+	27	4008	c.3845T>C	c.(3844-3846)gTc>gCc	p.V1282A	KALRN_ENST00000428018.2_Missense_Mutation_p.V1250A|KALRN_ENST00000360013.3_Missense_Mutation_p.V2979A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2978	DH 1. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTACATTGTCAACCGGGTG	0.502																																						uc003ehg.2																			0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(8935-8937)GTC>GCC		kalirin, RhoGEF kinase isoform 1							45.0	46.0	46.0					3																	124438292		2171	4265	6436	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124438292T>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3845T>C	3.37:g.124438292T>C	ENSP00000291478:p.Val1282Ala					KALRN_uc003ehk.2_Missense_Mutation_p.V1282A	p.V2979A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			60	9063	+			2978					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.8936T>C	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.37|11.37	1.617987|1.617987	0.28801|0.28801	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000291478;ENST00000428018	.|T;T;T	.|0.59906	.|0.24;0.25;0.23	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|0.401360	.|0.25509	.|N	.|0.030199	T|T	0.40372|0.40372	0.1114|0.1114	N|N	0.22421|0.22421	0.69|0.69	0.29635|0.29635	N|N	0.845123|0.845123	.|B;B	.|0.20261	.|0.043;0.018	.|B;B	.|0.16722	.|0.016;0.01	T|T	0.20075|0.20075	-1.0286|-1.0286	5|10	.|0.02654	.|T	.|1	.|.	15.4077|15.4077	0.74893|0.74893	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1282;2978	.|C9JQ37;O60229	.|.;KALRN_HUMAN	P|A	2948|2979;1282;1250	.|ENSP00000353109:V2979A;ENSP00000291478:V1282A;ENSP00000402419:V1250A	.|ENSP00000291478:V1282A	S|V	+|+	1|2	0|0	KALRN|KALRN	125920982|125920982	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	2.316000|2.316000	0.43761|0.43761	2.225000|2.225000	0.72522|0.72522	0.460000|0.460000	0.39030|0.39030	TCA|GTC		0.502	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947	
COL6A5	256076	broad.mit.edu	37	3	130174391	130174391	+	Missense_Mutation	SNP	C	C	T	rs368040060	byFrequency	TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:130174391C>T	ENST00000432398.2	+	37	7165	c.6671C>T	c.(6670-6672)aCg>aTg	p.T2224M	COL6A5_ENST00000265379.6_Missense_Mutation_p.T2224M	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2224	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTAAAGACGGAAGACAAT	0.353													T|||	2	0.000399361	0.0008	0.0	5008	,	,		15726	0.0		0.0	False		,,,				2504	0.001					uc010htj.1																			0					0						c.(6670-6672)ACG>ATG		collagen, type XXIX, alpha 1		T	MET/THR	1,3613		0,1,1806	61.0	60.0	60.0		6671	3.2	0.0	3		60	0,8140		0,0,4070	no	missense	COL6A5	NM_153264.5	81	0,1,5876	TT,TC,CC		0.0,0.0277,0.0085	benign	2224/2527	130174391	1,11753	1807	4070	5877	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174391C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6671C>T	3.37:g.130174391C>T	ENSP00000390895:p.Thr2224Met					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.T263M	p.T2224M	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			37	7165	+			2224			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6671C>T		.	.	.	.	.	.	.	.	.	.	T	3.893	-0.023581	0.07634	2.77E-4	0.0	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	D;D;T;T	0.88741	-2.33;-2.42;-0.93;-0.81	4.38	3.19	0.36642	.	1.373030	0.05646	N	0.584364	T	0.72938	0.3523	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.61491	-0.7052	10	0.33141	T	0.24	.	4.6547	0.12611	0.0:0.102:0.1934:0.7046	.	2224;2224	A8TX70;A8TX70-2	CO6A5_HUMAN;.	M	2224;2224;167;59	ENSP00000390895:T2224M;ENSP00000265379:T2224M;ENSP00000362250:T167M;ENSP00000424968:T59M	ENSP00000265379:T2224M	T	+	2	0	COL6A5	131657081	0.004000	0.15560	0.007000	0.13788	0.002000	0.02628	0.609000	0.24238	0.287000	0.22375	-0.269000	0.10298	ACG		0.353	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
ATR	545	broad.mit.edu	37	3	142188272	142188272	+	Silent	SNP	G	G	A	rs374110291		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:142188272G>A	ENST00000350721.4	-	38	6580	c.6459C>T	c.(6457-6459)caC>caT	p.H2153H	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Silent_p.H2089H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2153	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAACTTCATCGTGAGAATGAC	0.343								Other conserved DNA damage response genes																														uc003eux.3																			0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(6457-6459)CAC>CAT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein		G		0,4406		0,0,2203	128.0	133.0	131.0		6459	-0.1	0.9	3		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATR	NM_001184.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2153/2645	142188272	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142188272G>A	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6459C>T	3.37:g.142188272G>A						ATR_uc003euy.1_Silent_p.H39H	p.H2153H	NM_001184	NP_001175	Q13535	ATR_HUMAN			38	6581	-			2153			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.6459C>T	CCDS3124.1																																																																																				0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
ABCC5	10057	broad.mit.edu	37	3	183700632	183700632	+	Missense_Mutation	SNP	C	C	G	rs201560541		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:183700632C>G	ENST00000334444.6	-	6	995	c.755G>C	c.(754-756)gGg>gCg	p.G252A	ABCC5_ENST00000265586.6_Missense_Mutation_p.G252A|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	252	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TAGGATGGCCCCCCGCAAGCG	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20073	0.0		0.0	False		,,,				2504	0.0					uc003fmg.2																			0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(754-756)GGG>GCG		ATP-binding cassette, sub-family C, member 5							92.0	93.0	93.0					3																	183700632		1948	4132	6080	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183700632C>G	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.755G>C	3.37:g.183700632C>G	ENSP00000333926:p.Gly252Ala					ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Missense_Mutation_p.G252A	p.G252A	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	920	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		252			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.755G>C	CCDS43176.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.92	2.974348	0.53720	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.89196	-2.48;-2.48	5.52	5.52	0.82312	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.86744	0.6006	L	0.35542	1.07	0.80722	D	1	P;P	0.46395	0.877;0.587	P;B	0.49953	0.627;0.241	T	0.82585	-0.0384	10	0.02654	T	1	-22.0699	19.4562	0.94892	0.0:1.0:0.0:0.0	.	252;252	Q86UX3;O15440	.;MRP5_HUMAN	A	252;188;252	ENSP00000333926:G252A;ENSP00000265586:G252A	ENSP00000265586:G252A	G	-	2	0	ABCC5	185183326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.460000	0.80816	2.585000	0.87301	0.655000	0.94253	GGG		0.507	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	
FAM193A	8603	broad.mit.edu	37	4	2698176	2698176	+	Silent	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:2698176T>C	ENST00000324666.5	+	16	2841	c.2490T>C	c.(2488-2490)ccT>ccC	p.P830P	FAM193A_ENST00000502458.1_Silent_p.P852P|FAM193A_ENST00000545951.1_Silent_p.P830P|FAM193A_ENST00000505311.1_Silent_p.P830P|FAM193A_ENST00000382839.3_Silent_p.P830P	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	830										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGGAGCAACCTAAAAAAATGG	0.453																																						uc010icl.2																			0				ovary(3)	3						c.(2488-2490)CCT>CCC		hypothetical protein LOC8603							129.0	123.0	125.0					4																	2698176		2203	4300	6503	SO:0001819	synonymous_variant	8603							g.chr4:2698176T>C	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2490T>C	4.37:g.2698176T>C						FAM193A_uc010ick.2_Silent_p.P1030P|FAM193A_uc003gfd.2_Silent_p.P830P|FAM193A_uc011bvm.1_Silent_p.P852P|FAM193A_uc011bvn.1_Silent_p.P830P|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.P684P	p.P830P	NM_003704	NP_003695	P78312	F193A_HUMAN			16	2841	+			830					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	c.2490T>C	CCDS58875.1																																																																																				0.453	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704	
SLIT2	9353	broad.mit.edu	37	4	20547701	20547701	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:20547701A>G	ENST00000504154.1	+	22	2576	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	SLIT2_ENST00000509394.2_3'UTR|SLIT2_ENST00000503837.1_Missense_Mutation_p.N771S|SLIT2_ENST00000503823.1_Missense_Mutation_p.N767S|SLIT2_ENST00000273739.5_Missense_Mutation_p.N779S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	775					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.N775S(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAACTCTCCAACTACAAACAT	0.358																																						uc003gpr.1																			1	Substitution - Missense(1)	p.N775S(1)	central_nervous_system(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(2323-2325)AAC>AGC		slit homolog 2 precursor							114.0	106.0	109.0					4																	20547701		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20547701A>G	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2324A>G	4.37:g.20547701A>G	ENSP00000422591:p.Asn775Ser					SLIT2_uc003gps.1_Missense_Mutation_p.N767S	p.N775S	NM_004787	NP_004778	O94813	SLIT2_HUMAN			22	2528	+			775			LRR 17.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.2324A>G	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	10.83	1.460669	0.26248	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.47	5.47	0.80525	.	0.081458	0.85682	D	0.000000	T	0.17916	0.0430	N	0.25992	0.78	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.06180	-1.0841	10	0.07990	T	0.79	.	15.8443	0.78876	1.0:0.0:0.0:0.0	.	767;775	O94813-3;O94813	.;SLIT2_HUMAN	S	767;775;779;771;771	ENSP00000427548:N767S;ENSP00000422591:N775S;ENSP00000273739:N779S;ENSP00000422261:N771S	ENSP00000273739:N779S	N	+	2	0	SLIT2	20156799	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.851000	0.69481	2.194000	0.70268	0.528000	0.53228	AAC		0.358	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
KDR	3791	broad.mit.edu	37	4	55958819	55958819	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:55958819C>T	ENST00000263923.4	-	22	3329	c.3034G>A	c.(3034-3036)Gtg>Atg	p.V1012M	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1012	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCTTAGCCACTTGGAAGCTG	0.463			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(3034-3036)GTG>ATG		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						120.0	107.0	111.0					4																	55958819		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55958819C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3034G>A	4.37:g.55958819C>T	ENSP00000263923:p.Val1012Met	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.V1012M	p.V1012M	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		22	3336	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		1012			Protein kinase.|Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.3034G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283315	0.95489	.	.	ENSG00000128052	ENST00000263923	D	0.90844	-2.74	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94771	0.8312	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94531	0.7736	10	0.87932	D	0	.	20.3802	0.98930	0.0:1.0:0.0:0.0	.	1012	P35968	VGFR2_HUMAN	M	1012	ENSP00000263923:V1012M	ENSP00000263923:V1012M	V	-	1	0	KDR	55653576	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.822000	0.97130	0.563000	0.77884	GTG		0.463	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
TMPRSS11A	339967	broad.mit.edu	37	4	68784796	68784796	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:68784796T>G	ENST00000334830.7	-	8	1602	c.856A>C	c.(856-858)Acc>Ccc	p.T286P	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.T283P|TMPRSS11A_ENST00000508048.1_Missense_Mutation_p.T282P|UBA6-AS1_ENST00000500538.2_RNA			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	286	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCCGAAAAGGTGACTCTGGAA	0.433																																					NSCLC(26;2 894 10941 14480 22546)	uc003hdr.1																			0				skin(1)	1						c.(856-858)ACC>CCC		transmembrane protease, serine 11A isoform 1							167.0	172.0	170.0					4																	68784796		2203	4300	6503	SO:0001583	missense	339967				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68784796T>G	AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.856A>C	4.37:g.68784796T>G	ENSP00000334611:p.Thr286Pro					LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.T283P	p.T286P	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN			8	977	-			286			Peptidase S1.|Extracellular (Potential).		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Missense_Mutation	SNP	ENST00000334830.7	37	c.856A>C	CCDS3519.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891604	0.33442	.	.	ENSG00000187054	ENST00000508048;ENST00000334830;ENST00000396188;ENST00000513536	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	5.36	-3.87	0.04218	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.329724	0.25975	N	0.027117	T	0.78375	0.4273	N	0.10733	0.035	0.34500	D	0.705913	D;D	0.62365	0.984;0.991	P;P	0.57057	0.697;0.812	T	0.75701	-0.3226	10	0.36615	T	0.2	.	2.1539	0.03807	0.117:0.2679:0.1204:0.4947	.	283;286	B5MDI9;Q6ZMR5	.;TM11A_HUMAN	P	282;286;283;250	ENSP00000426911:T282P;ENSP00000334611:T286P;ENSP00000379491:T283P;ENSP00000427621:T250P	ENSP00000334611:T286P	T	-	1	0	TMPRSS11A	68467391	0.078000	0.21339	0.042000	0.18584	0.052000	0.14988	-0.179000	0.09768	-0.966000	0.03587	0.482000	0.46254	ACC		0.433	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251433.3	NM_182606	
UGT2B27P	54569	broad.mit.edu	37	4	69874638	69874638	+	IGR	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:69874638T>C								UGT2A3 (57129 upstream) : UGT2B7 (42555 downstream)																							TGTGTTGAAGTCCACTCTAAC	0.403																																						uc011cao.1																			0				skin(3)|ovary(2)	5						c.(1132-1134)GAC>GGC		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							187.0	145.0	157.0					4																	69874638		692	1589	2281	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69874638T>C																													4.37:g.69874638T>C						UGT2B10_uc011can.1_Missense_Mutation_p.D294G	p.D378G			P36537	UDB10_HUMAN			8	1269	-			415						Missense_Mutation	SNP		37	c.1133A>G																																																																																				0	0.403								
ADAM29	11086	broad.mit.edu	37	4	175897388	175897388	+	Missense_Mutation	SNP	G	G	C	rs148389603		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:175897388G>C	ENST00000359240.3	+	5	1382	c.712G>C	c.(712-714)Gtc>Ctc	p.V238L	ADAM29_ENST00000445694.1_Missense_Mutation_p.V238L|ADAM29_ENST00000404450.4_Missense_Mutation_p.V238L|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.V238L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	238	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CATTTTGGATGTCATTGGTGT	0.348																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(712-714)GTC>CTC		ADAM metallopeptidase domain 29 preproprotein		G	LEU/VAL,LEU/VAL,LEU/VAL,LEU/VAL	0,4406		0,0,2203	102.0	106.0	105.0		712,712,712,712	-3.3	0.0	4	dbSNP_134	105	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	ADAM29	NM_001130703.1,NM_001130704.1,NM_001130705.1,NM_014269.4	32,32,32,32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	238/821,238/821,238/821,238/821	175897388	1,13005	2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897388G>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.712G>C	4.37:g.175897388G>C	ENSP00000352177:p.Val238Leu					ADAM29_uc003iud.2_Missense_Mutation_p.V238L|ADAM29_uc010irr.2_Missense_Mutation_p.V238L|ADAM29_uc011cki.1_Missense_Mutation_p.V238L	p.V238L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1382	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	238			Peptidase M12B.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.712G>C	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	6.094	0.385643	0.11524	0.0	1.16E-4	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	3.61	-3.34	0.04943	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.649523	0.11552	U	0.552737	T	0.07999	0.0200	L	0.50333	1.59	0.09310	N	1	B	0.30851	0.297	B	0.34452	0.183	T	0.34775	-0.9815	9	.	.	.	.	0.5684	0.00691	0.1993:0.2886:0.2196:0.2925	.	238	Q9UKF5	ADA29_HUMAN	L	238	ENSP00000352177:V238L;ENSP00000414544:V238L;ENSP00000384229:V238L;ENSP00000423517:V238L	.	V	+	1	0	ADAM29	176133963	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.072000	0.14617	-0.837000	0.04223	0.549000	0.68633	GTC		0.348	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
NLN	57486	broad.mit.edu	37	5	65088386	65088386	+	Silent	SNP	A	A	C	rs201411983		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:65088386A>C	ENST00000380985.5	+	9	1609	c.1431A>C	c.(1429-1431)tcA>tcC	p.S477S	NLN_ENST00000502464.1_Silent_p.S373S	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	477						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.S477S(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGAACTTCTCACAGCCAGTGG	0.552																																						uc003juf.2																			1	Substitution - coding silent(1)		kidney(1)	central_nervous_system(1)	1						c.(1429-1431)TCA>TCC		neurolysin precursor							99.0	92.0	95.0					5																	65088386		2203	4300	6503	SO:0001819	synonymous_variant	57486				proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	g.chr5:65088386A>C	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1431A>C	5.37:g.65088386A>C						NLN_uc003jue.2_Silent_p.S477S|NLN_uc003jug.2_Silent_p.S306S|NLN_uc010iww.2_Silent_p.S172S	p.S477S	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)	9	1547	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	477					Q9ULJ4	Silent	SNP	ENST00000380985.5	37	c.1431A>C	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.610145	0.28712	.	.	ENSG00000123213	ENST00000509935	.	.	.	5.78	-11.6	0.00059	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42849	-0.9427	4	.	.	.	-8.7894	3.6172	0.08082	0.2177:0.4108:0.2277:0.1438	.	.	.	.	P	74	.	.	T	+	1	0	NLN	65124142	0.002000	0.14202	0.434000	0.26772	0.976000	0.68499	-1.135000	0.03225	-2.385000	0.00590	0.533000	0.62120	ACA		0.552	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1		
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:67589138G>C	ENST00000521381.1	+	10	1742	c.1126G>C	c.(1126-1128)Gga>Cga	p.G376R	PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		7	Substitution - Missense(5)|Whole gene deletion(1)|Unknown(1)	p.G376R(3)|p.?(1)	central_nervous_system(5)|large_intestine(1)|lung(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1126-1128)GGA>CGA		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						52.0	58.0	56.0					5																	67589138		2189	4295	6484	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589138G>C	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1126G>C	5.37:g.67589138G>C	ENSP00000428056:p.Gly376Arg	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.G376R|PIK3R1_uc003jvc.2_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.2_Missense_Mutation_p.G106R|PIK3R1_uc003jve.2_Missense_Mutation_p.G55R|PIK3R1_uc011crb.1_Missense_Mutation_p.G46R	p.G376R	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	10	1686	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	376			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1126G>C	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869926	0.91587	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000523807;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;T;T;T;T	0.96716	-0.18;-0.18;-0.18;-0.18;-4.1;-0.18;-0.18;-0.18;-0.18;-0.18	5.2	5.2	0.72013	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.98153	0.9390	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	D	0.98655	1.0681	10	0.87932	D	0	-27.7511	19.2944	0.94117	0.0:0.0:1.0:0.0	.	46;106;76;376	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	R	376;376;376;376;106;76;13;106;49;13	ENSP00000428056:G376R;ENSP00000429277:G376R;ENSP00000379855:G376R;ENSP00000274335:G376R;ENSP00000430126:G106R;ENSP00000323512:G76R;ENSP00000431058:G13R;ENSP00000338554:G106R;ENSP00000429156:G49R;ENSP00000430098:G13R	ENSP00000274335:G376R	G	+	1	0	PIK3R1	67624894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.601000	0.98297	2.868000	0.98415	0.555000	0.69702	GGA		0.308	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
PCDHA8	56140	broad.mit.edu	37	5	140222411	140222411	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:140222411G>A	ENST00000531613.1	+	1	1505	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	PCDHA8_ENST00000378123.3_Missense_Mutation_p.R502H|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCGAGCGCTCGCTGTCG	0.672																																						uc003lhs.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1504-1506)CGC>CAC		protocadherin alpha 8 isoform 1 precursor							47.0	53.0	51.0					5																	140222411		2194	4262	6456	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140222411G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1505G>A	5.37:g.140222411G>A	ENSP00000434655:p.Arg502His					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.R502H	p.R502H	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1505	+			502			Cadherin 5.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1505G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	6.113	0.389049	0.11581	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.61040	0.14;0.14	3.72	3.72	0.42706	Cadherin (4);Cadherin-like (1);	0.000000	0.36854	U	0.002376	T	0.51958	0.1705	L	0.39397	1.21	0.21822	N	0.999522	P;P	0.41748	0.682;0.761	P;P	0.46110	0.504;0.464	T	0.44574	-0.9319	10	0.40728	T	0.16	.	10.0129	0.41997	0.0:0.0:0.7978:0.2022	.	502;502	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	502	ENSP00000434655:R502H;ENSP00000367363:R502H	ENSP00000367363:R502H	R	+	2	0	PCDHA8	140202595	0.728000	0.28080	0.950000	0.38849	0.249000	0.25844	0.923000	0.28757	1.790000	0.52503	0.306000	0.20318	CGC		0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHGA12	26025	broad.mit.edu	37	5	140810513	140810513	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:140810513G>A	ENST00000252085.3	+	1	329	c.187G>A	c.(187-189)Gga>Aga	p.G63R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	63	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGCGCGGAGTCCGCAT	0.652																																						uc003lkt.1																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(187-189)GGA>AGA		protocadherin gamma subfamily A, 12 isoform 1							59.0	73.0	68.0					5																	140810513		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140810513G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.187G>A	5.37:g.140810513G>A	ENSP00000252085:p.Gly63Arg					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.G63R	p.G63R	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	356	+			63			Cadherin 1.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.187G>A	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	g	0.025	-1.379636	0.01204	.	.	ENSG00000253159	ENST00000252085	T	0.28069	1.63	5.55	2.65	0.31530	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.17916	0.0430	L	0.39085	1.19	0.09310	N	1	P;B	0.35107	0.484;0.297	B;B	0.34180	0.167;0.177	T	0.17198	-1.0377	9	0.06099	T	0.92	.	5.3262	0.15908	0.2988:0.1395:0.5617:0.0	.	63;63	O60330-2;O60330	.;PCDGC_HUMAN	R	63	ENSP00000252085:G63R	ENSP00000252085:G63R	G	+	1	0	PCDHGA12	140790697	0.007000	0.16637	0.953000	0.39169	0.234000	0.25298	0.960000	0.29253	0.718000	0.32166	0.555000	0.69702	GGA		0.652	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
TENM2	57451	broad.mit.edu	37	5	167553791	167553791	+	Missense_Mutation	SNP	G	G	A	rs374882111	byFrequency	TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:167553791G>A	ENST00000518659.1	+	12	2281	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I	TENM2_ENST00000520394.1_Missense_Mutation_p.V516I|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.V748I|TENM2_ENST00000519204.1_Missense_Mutation_p.V627I|TENM2_ENST00000403607.2_Missense_Mutation_p.V581I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	748	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CACTCACGGCGTCTGCATCGG	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		14838	0.002		0.0	False		,,,				2504	0.0					uc010jjd.2																			0				ovary(6)|central_nervous_system(4)	10						c.(2242-2244)GTC>ATC		odz, odd Oz/ten-m homolog 2							37.0	43.0	41.0					5																	167553791		2026	4175	6201	SO:0001583	missense	57451							g.chr5:167553791G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2242G>A	5.37:g.167553791G>A	ENSP00000429430:p.Val748Ile					ODZ2_uc003lzr.3_Missense_Mutation_p.V516I|ODZ2_uc003lzt.3_Missense_Mutation_p.V112I|ODZ2_uc010jje.2_Missense_Mutation_p.V19I|uc003lzs.1_Intron	p.V748I	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	12	2242	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2242G>A		.	.	.	.	.	.	.	.	.	.	G	16.84	3.235032	0.58886	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	5.5	5.5	0.81552	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.03651	0.0104	N	0.16037	0.36	0.48288	D	0.999623	P;P;P	0.50710	0.703;0.579;0.938	B;B;B	0.42062	0.107;0.05;0.374	T	0.63323	-0.6663	10	0.25106	T	0.35	.	19.7664	0.96346	0.0:0.0:1.0:0.0	.	748;748;516	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	748;748;627;516;581	ENSP00000429430:V748I;ENSP00000438635:V748I;ENSP00000428964:V627I;ENSP00000427874:V516I;ENSP00000384905:V581I	ENSP00000384905:V581I	V	+	1	0	ODZ2	167486369	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.791000	0.85805	2.735000	0.93741	0.655000	0.94253	GTC		0.587	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
PPIL6	285755	broad.mit.edu	37	6	109752491	109752491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr6:109752491G>A	ENST00000521072.2	-	3	869	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	PPIL6_ENST00000440797.2_Nonsense_Mutation_p.Q97*|PPIL6_ENST00000524031.1_5'UTR|AL109947.1_ENST00000459391.1_RNA|PPIL6_ENST00000424445.2_Nonsense_Mutation_p.Q65*	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	97					protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		CCCAGAAACTGACCATTAACA	0.403																																						uc003ptg.3																			0					0						c.(289-291)CAG>TAG		peptidylprolyl isomerase-like 6 isoform 1							85.0	83.0	84.0					6																	109752491		2203	4300	6503	SO:0001587	stop_gained	285755				protein folding		peptidyl-prolyl cis-trans isomerase activity	g.chr6:109752491G>A		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.289C>T	6.37:g.109752491G>A	ENSP00000427929:p.Gln97*					PPIL6_uc010kdo.2_Nonsense_Mutation_p.Q65*|PPIL6_uc010kdp.2_Nonsense_Mutation_p.Q97*	p.Q97*	NM_173672	NP_775943	Q8IXY8	PPIL6_HUMAN		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)	3	343	-		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	97					A9NIU0|A9NIU9|E7EX15	Nonsense_Mutation	SNP	ENST00000521072.2	37	c.289C>T	CCDS5074.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.212468|7.212468	0.98139|0.98139	.|.	.|.	ENSG00000185250|ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394|ENST00000520723;ENST00000518648	.|.	.|.	.|.	5.26|5.26	2.36|2.36	0.29203|0.29203	.|.	0.658068|.	0.14858|.	N|.	0.294235|.	.|T	.|0.34135	.|0.0887	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.11108	.|-1.0601	.|3	0.52906|.	T|.	0.07|.	-6.3865|-6.3865	10.0729|10.0729	0.42343|0.42343	0.0:0.1337:0.5893:0.2771|0.0:0.1337:0.5893:0.2771	.|.	.|.	.|.	.|.	X|L	65;97;97;54|36;44	.|.	ENSP00000411731:Q54X|.	Q|S	-|-	1|2	0|0	PPIL6|PPIL6	109859184|109859184	0.001000|0.001000	0.12720|0.12720	0.039000|0.039000	0.18376|0.18376	0.193000|0.193000	0.23685|0.23685	0.575000|0.575000	0.23729|0.23729	0.165000|0.165000	0.19558|0.19558	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.403	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089003.4		
HOXA2	3199	broad.mit.edu	37	7	27142031	27142031	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:27142031T>A	ENST00000222718.5	-	1	399	c.89A>T	c.(88-90)gAt>gTt	p.D30V	HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000593300.1_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	30					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TTGAAATGTATCAGCGACAGG	0.493																																						uc003syh.2																			0				ovary(1)|skin(1)	2						c.(88-90)GAT>GTT		homeobox A2							116.0	125.0	122.0					7																	27142031		2203	4300	6503	SO:0001583	missense	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27142031T>A		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.89A>T	7.37:g.27142031T>A	ENSP00000222718:p.Asp30Val						p.D30V	NM_006735	NP_006726	O43364	HXA2_HUMAN			1	364	-			30					A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	c.89A>T	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.099369	0.56183	.	.	ENSG00000105996	ENST00000222718	T	0.09817	2.94	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	M	0.87547	2.89	0.80722	D	1	D	0.59357	0.985	D	0.63703	0.917	T	0.39313	-0.9620	10	0.87932	D	0	.	15.3211	0.74124	0.0:0.0:0.0:1.0	.	30	O43364	HXA2_HUMAN	V	30	ENSP00000222718:D30V	ENSP00000222718:D30V	D	-	2	0	HOXA2	27108556	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.869000	0.69613	2.019000	0.59389	0.482000	0.46254	GAT		0.493	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2		
GCK	2645	broad.mit.edu	37	7	44189583	44189583	+	Silent	SNP	A	A	G	rs377355289		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:44189583A>G	ENST00000403799.3	-	5	1033	c.564T>C	c.(562-564)gcT>gcC	p.A188A	GCK_ENST00000345378.2_Silent_p.A189A|GCK_ENST00000395796.3_Silent_p.A187A|GCK_ENST00000437084.1_Silent_p.A171A	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	188	Hexokinase type-1.		A -> T (in MODY2; large increase in Km for glucose). {ECO:0000269|PubMed:8325892}.		calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCCGTTTGATAGCGTCTCGCA	0.632																																						uc003tkl.2																			0				skin(3)|lung(1)	4	GRCh37	CP025147	GCK	X		c.(562-564)GCT>GCC		glucokinase isoform 1		A	,,	1,4405	2.1+/-5.4	0,1,2202	103.0	92.0	96.0		564,567,561	1.5	1.0	7		96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GCK	NM_000162.3,NM_033507.1,NM_033508.1	,,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,,	188/466,189/467,187/465	44189583	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2645				cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	g.chr7:44189583A>G	AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.564T>C	7.37:g.44189583A>G						GCK_uc003tkj.1_Silent_p.A187A|GCK_uc003tkk.1_Silent_p.A189A	p.A188A	NM_000162	NP_000153	P35557	HXK4_HUMAN			5	1034	-			188		A -> T (in MODY2; large increase in Km for glucose).			A4D2J2|A4D2J3|Q05810	Silent	SNP	ENST00000403799.3	37	c.564T>C	CCDS5479.1																																																																																				0.632	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251069.2		
MAGI2	9863	broad.mit.edu	37	7	77797372	77797372	+	Silent	SNP	A	A	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:77797372A>T	ENST00000354212.4	-	15	2710	c.2457T>A	c.(2455-2457)ctT>ctA	p.L819L	MAGI2_ENST00000419488.1_Silent_p.L805L|MAGI2_ENST00000522391.1_Silent_p.L819L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	819	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTCCTGGGTGAAGGCGGCCAT	0.517																																						uc003ugx.2																			0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(2455-2457)CTT>CTA		membrane associated guanylate kinase, WW and PDZ							122.0	112.0	116.0					7																	77797372		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77797372A>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2457T>A	7.37:g.77797372A>T						MAGI2_uc003ugy.2_Silent_p.L805L|MAGI2_uc010ldx.1_Silent_p.L412L	p.L819L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			15	2711	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	819			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.2457T>A	CCDS5594.1																																																																																				0.517	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
SAMD9L	219285	broad.mit.edu	37	7	92763379	92763379	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:92763379G>A	ENST00000318238.4	-	5	3122	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	SAMD9L_ENST00000411955.1_Missense_Mutation_p.P636S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P636S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	636					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCACGGGCGGGCAAAAACCTT	0.398																																						uc003umh.1																			0				ovary(4)	4						c.(1906-1908)CCC>TCC		sterile alpha motif domain containing 9-like							85.0	87.0	87.0					7																	92763379		2203	4299	6502	SO:0001583	missense	219285							g.chr7:92763379G>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1906C>T	7.37:g.92763379G>A	ENSP00000326247:p.Pro636Ser					SAMD9L_uc003umj.1_Missense_Mutation_p.P636S|SAMD9L_uc003umi.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfb.1_Missense_Mutation_p.P636S|SAMD9L_uc003umk.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfc.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfd.1_Missense_Mutation_p.P636S|SAMD9L_uc011khx.1_Intron	p.P636S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3122	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		636					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1906C>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582453	0.65992	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.38887	1.11;1.11;1.11	4.86	3.98	0.46160	.	0.076822	0.50627	N	0.000101	T	0.54902	0.1887	M	0.69823	2.125	0.46701	D	0.999167	D	0.67145	0.996	P	0.54924	0.764	T	0.61598	-0.7030	10	0.87932	D	0	-4.6903	12.8163	0.57667	0.0802:0.0:0.9198:0.0	.	636	Q8IVG5	SAM9L_HUMAN	S	636	ENSP00000326247:P636S;ENSP00000405760:P636S;ENSP00000408796:P636S	ENSP00000326247:P636S	P	-	1	0	SAMD9L	92601315	1.000000	0.71417	0.992000	0.48379	0.755000	0.42902	5.258000	0.65479	1.266000	0.44231	0.467000	0.42956	CCC		0.398	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
PPP1R3A	5506	broad.mit.edu	37	7	113519285	113519285	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:113519285C>A	ENST00000284601.3	-	4	1930	c.1862G>T	c.(1861-1863)aGa>aTa	p.R621I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	621					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTTCCAGTTCTTGATGAACA	0.383																																						uc010ljy.1																			0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1861-1863)AGA>ATA		protein phosphatase 1, regulatory (inhibitor)							94.0	92.0	92.0					7																	113519285		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519285C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1862G>T	7.37:g.113519285C>A	ENSP00000284601:p.Arg621Ile						p.R621I	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1893	-			621					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1862G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098509	0.20552	.	.	ENSG00000154415	ENST00000284601	T	0.19250	2.16	6.02	-1.78	0.07957	.	0.538685	0.18505	N	0.139238	T	0.15782	0.0380	M	0.67953	2.075	0.19300	N	0.999976	P	0.37398	0.593	B	0.34038	0.174	T	0.13548	-1.0505	10	0.66056	D	0.02	-0.4639	2.544	0.04732	0.1062:0.2339:0.1966:0.4633	.	621	Q16821	PPR3A_HUMAN	I	621	ENSP00000284601:R621I	ENSP00000284601:R621I	R	-	2	0	PPP1R3A	113306521	0.158000	0.22850	0.683000	0.30040	0.044000	0.14063	0.130000	0.15850	-0.035000	0.13691	-0.727000	0.03589	AGA		0.383	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:141759688T>C	ENST00000549489.2	+	33	4076	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P	MGAM_ENST00000475668.2_Silent_p.P1327P	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1327	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463																																						uc003vwy.2																			2	Substitution - coding silent(2)		prostate(2)	ovary(2)	2						c.(3979-3981)CCT>CCC		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						50.0	43.0	45.0					7																	141759688		1935	4135	6070	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141759688T>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3981T>C	7.37:g.141759688T>C							p.P1327P	NM_004668	NP_004659	O43451	MGA_HUMAN			33	4035	+	Melanoma(164;0.0272)		1327			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3981T>C	CCDS47727.1																																																																																				0.463	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3		
TUSC3	7991	broad.mit.edu	37	8	15519674	15519674	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr8:15519674T>C	ENST00000503731.1	+	5	725	c.577T>C	c.(577-579)Ttc>Ctc	p.F193L	TUSC3_ENST00000506802.1_Missense_Mutation_p.F193L|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Missense_Mutation_p.F193L|TUSC3_ENST00000382020.4_Missense_Mutation_p.F193L	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	193					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.F193L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GATTCGGGTTTTCAGACCACC	0.353																																						uc003wwt.2																			1	Substitution - Missense(1)	p.F193L(1)	central_nervous_system(1)	ovary(2)|central_nervous_system(1)	3						c.(577-579)TTC>CTC		tumor suppressor candidate 3 isoform a							139.0	138.0	138.0					8																	15519674		2203	4299	6502	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15519674T>C	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.577T>C	8.37:g.15519674T>C	ENSP00000424544:p.Phe193Leu					TUSC3_uc003wwr.2_Missense_Mutation_p.F193L|TUSC3_uc003wws.2_Missense_Mutation_p.F193L|TUSC3_uc003wwu.2_Missense_Mutation_p.F193L|TUSC3_uc003wwv.2_Missense_Mutation_p.F193L|TUSC3_uc003www.2_Missense_Mutation_p.F193L|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.F193L	p.F193L	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	5	787	+			193					A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.577T>C	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626729	0.46840	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.81202	0.4773	L	0.42581	1.335	0.53005	D	0.999963	P;B;P;B;B;P	0.52577	0.726;0.425;0.954;0.044;0.425;0.509	P;B;D;B;B;B	0.66351	0.891;0.221;0.943;0.034;0.3;0.133	T	0.76366	-0.2985	10	0.12430	T	0.62	-16.4715	14.2661	0.66118	0.0:0.0:0.0:1.0	.	193;193;193;193;193;193	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	L	193	ENSP00000371450:F193L;ENSP00000425777:F193L;ENSP00000423426:F193L;ENSP00000424544:F193L	ENSP00000221167:F193L	F	+	1	0	TUSC3	15564045	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.850000	0.69473	2.042000	0.60477	0.533000	0.62120	TTC		0.353	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765	
LINGO2	158038	broad.mit.edu	37	9	27949442	27949443	+	Frame_Shift_Ins	INS	-	-	T	rs199551773|rs377599950		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:27949442_27949443insT	ENST00000379992.2	-	6	1676_1677	c.1227_1228insA	c.(1225-1230)aaacccfs	p.P410fs	LINGO2_ENST00000308675.3_Frame_Shift_Ins_p.P410fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral component of membrane (GO:0016021)		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAGG	0.49																																						uc003zqu.1																			2	Substitution - Missense(2)		prostate(2)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1225-1230)AAACCCfs		leucine rich repeat and Ig domain containing 2																																				SO:0001589	frameshift_variant	158038					integral to membrane		g.chr9:27949442_27949443insT	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1228dupA	9.37:g.27949448_27949448dupT	ENSP00000369328:p.Pro410fs					LINGO2_uc010mjf.1_Frame_Shift_Ins_p.K409fs|LINGO2_uc003zqv.1_Frame_Shift_Ins_p.K409fs	p.K409fs	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	2	1421_1422	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	409_410			Ig-like C2-type.|Extracellular (Potential).		A8K4K7|B2RPM5|Q6ZMD0	Frame_Shift_Ins	INS	ENST00000379992.2	37	c.1227_1228insA	CCDS6524.1																																																																																				0.490	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570	
TRIM32	22954	broad.mit.edu	37	9	119461599	119461599	+	Silent	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:119461599C>T	ENST00000450136.1	+	2	1739	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Silent_p.T526T|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	526					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T526T(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CTGAGGGCACCGTCTACTTCA	0.542																																					Esophageal Squamous(92;212 1916 19711 26951)	uc004bjx.2																			1	Substitution - coding silent(1)	p.T526T(1)	central_nervous_system(1)	central_nervous_system(2)|kidney(1)	3						c.(1576-1578)ACC>ACT		tripartite motif-containing 32							71.0	62.0	65.0					9																	119461599		2203	4300	6503	SO:0001819	synonymous_variant	22954	Bardet-Biedl_syndrome			fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461599C>T	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1578C>T	9.37:g.119461599C>T						ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.T526T	p.T526T	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN			2	1736	+			526					Q9NQP8	Silent	SNP	ENST00000450136.1	37	c.1578C>T	CCDS6817.1																																																																																				0.542	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210	
GARNL3	84253	broad.mit.edu	37	9	130155514	130155514	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:130155514A>G	ENST00000373387.4	+	28	3375	c.3023A>G	c.(3022-3024)gAc>gGc	p.D1008G	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.D986G|GARNL3_ENST00000314904.5_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	1008					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCCGATGAAGACATTATAGAC	0.483																																						uc011mae.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3022-3024)GAC>GGC		GTPase activating Rap/RanGAP domain-like 3							66.0	76.0	72.0					9																	130155514		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130155514A>G	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.3023A>G	9.37:g.130155514A>G	ENSP00000362485:p.Asp1008Gly					GARNL3_uc011mad.1_Missense_Mutation_p.D986G|GARNL3_uc010mxi.2_Missense_Mutation_p.D238G	p.D1008G	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			28	3424	+			1008					B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.3023A>G	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	A	16.29	3.080975	0.55753	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.89875	-2.57;-2.58	5.58	5.58	0.84498	.	0.208088	0.48286	D	0.000192	D	0.82770	0.5109	L	0.27053	0.805	0.80722	D	1	B;B	0.23316	0.083;0.083	B;B	0.27262	0.078;0.078	T	0.77981	-0.2383	9	.	.	.	.	14.8784	0.70513	1.0:0.0:0.0:0.0	.	1008;986	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	G	986;1008	ENSP00000396205:D986G;ENSP00000362485:D1008G	.	D	+	2	0	GARNL3	129195335	1.000000	0.71417	0.949000	0.38748	0.959000	0.62525	5.956000	0.70315	2.239000	0.73571	0.533000	0.62120	GAC		0.483	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293	
FTSJ1	24140	broad.mit.edu	37	X	48337070	48337070	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chrX:48337070T>C	ENST00000348411.2	+	4	580	c.257T>C	c.(256-258)gTa>gCa	p.V86A	FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000019019.2_Missense_Mutation_p.V86A|FTSJ1_ENST00000456787.1_Missense_Mutation_p.V86A	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCAGGTGTGGTACAGATCCAG	0.592																																						uc004djo.1																			0					0						c.(256-258)GTA>GCA		FtsJ homolog 1 isoform a							46.0	37.0	40.0					X																	48337070		2203	4300	6503	SO:0001583	missense	24140				RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding	g.chrX:48337070T>C	AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"""tRNA methyltransferase 7 homolog (S. cerevisiae)"""	300499	"""mental retardation, X-linked 9"", ""mental retardation, X-linked 44"""	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.257T>C	X.37:g.48337070T>C	ENSP00000326948:p.Val86Ala					FTSJ1_uc004djl.2_Missense_Mutation_p.V86A|FTSJ1_uc004djm.2_Missense_Mutation_p.V86A|FTSJ1_uc004djn.1_Missense_Mutation_p.V86A|FTSJ1_uc004djp.1_Missense_Mutation_p.V86A|FTSJ1_uc011mlw.1_Intron	p.V86A	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN			4	580	+			86						Missense_Mutation	SNP	ENST00000348411.2	37	c.257T>C	CCDS14294.1	.	.	.	.	.	.	.	.	.	.	t	13.35	2.210815	0.39102	.	.	ENSG00000068438	ENST00000019019;ENST00000348411;ENST00000456787	T;T;T	0.28895	1.59;1.59;1.59	5.12	3.91	0.45181	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.593826	0.17150	N	0.185099	T	0.29684	0.0741	L	0.46819	1.47	0.80722	D	1	B;B;B	0.14012	0.009;0.0;0.002	B;B;B	0.30716	0.119;0.056;0.008	T	0.05550	-1.0878	10	0.46703	T	0.11	-24.7952	8.6486	0.34020	0.0:0.0947:0.0:0.9053	.	86;86;86	Q9UET6;Q9UET6-2;B3KN91	RRMJ1_HUMAN;.;.	A	86	ENSP00000019019:V86A;ENSP00000326948:V86A;ENSP00000415457:V86A	ENSP00000019019:V86A	V	+	2	0	FTSJ1	48222014	1.000000	0.71417	0.944000	0.38274	0.756000	0.42949	2.946000	0.49050	0.684000	0.31448	0.385000	0.25706	GTA		0.592	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1		
