#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KCNJ11	3767	broad.mit.edu	37	11	17408995	17408995	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:17408995A>G	ENST00000339994.4	-	1	1211	c.644T>C	c.(643-645)aTc>aCc	p.I215T	KCNJ11_ENST00000528731.1_Missense_Mutation_p.I128T|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	215					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	CTGCATGTGGATGGTGGCGCT	0.637											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339994.4																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(643-645)aTc>aCc		potassium inwardly-rectifying channel, subfamily J, member 11							77.0	56.0	63.0					11																	17408995		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17408995A>G	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.644T>C	11.37:g.17408995A>G	ENSP00000345708:p.Ile215Thr		OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	717	KCNJ11_ENST00000528731.1_Missense_Mutation_p.I128T	p.I215T	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	1211	-			128					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.644T>C	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	A	19.27	3.795805	0.70452	.	.	ENSG00000187486	ENST00000339994;ENST00000528731;ENST00000526912	D;D;D	0.95205	-3.64;-3.64;-3.64	5.29	5.29	0.74685	.	0.057789	0.64402	D	0.000002	D	0.97222	0.9092	M	0.83852	2.665	0.58432	D	0.999996	D	0.53885	0.963	D	0.74674	0.984	D	0.97971	1.0343	10	0.87932	D	0	.	15.2165	0.73270	1.0:0.0:0.0:0.0	.	215	B2RC52	.	T	215;128;128	ENSP00000345708:I215T;ENSP00000434755:I128T;ENSP00000432729:I128T	ENSP00000345708:I215T	I	-	2	0	KCNJ11	17365571	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	1.997000	0.58415	0.459000	0.35465	ATC		0.637	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		18	50	0	0	0	1	0	18	50				
KLK6	5653	broad.mit.edu	37	19	51466567	51466567	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:51466567T>C	ENST00000376851.3	-	4	875	c.436A>G	c.(436-438)Aca>Gca	p.T146A	KLK6_ENST00000594641.1_Missense_Mutation_p.T146A|KLK6_ENST00000310157.2_Missense_Mutation_p.T146A|KLK6_ENST00000456750.2_Missense_Mutation_p.T39A|KLK6_ENST00000391808.1_Missense_Mutation_p.T39A|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	146	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CCATCTGCTGTCTTGCCCCAG	0.612																																						ENST00000376851.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(436-438)Aca>Gca		kallikrein-related peptidase 6							65.0	53.0	57.0					19																	51466567		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51466567T>C	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.436A>G	19.37:g.51466567T>C	ENSP00000366047:p.Thr146Ala					KLK6_ENST00000376853.4_Intron|KLK6_ENST00000456750.2_Missense_Mutation_p.T39A|KLK6_ENST00000391808.1_Missense_Mutation_p.T39A|KLK6_ENST00000594641.1_Missense_Mutation_p.T146A|KLK6_ENST00000310157.2_Missense_Mutation_p.T146A|CTB-147C22.8_ENST00000601506.1_RNA	p.T146A	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	4	875	-		all_neural(266;0.026)	146			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.436A>G	CCDS12811.1	.	.	.	.	.	.	.	.	.	.	N	18.51	3.638766	0.67130	.	.	ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	4.49	4.49	0.54785	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.444859	0.17154	N	0.184935	D	0.95306	0.8477	M	0.73598	2.24	0.80722	D	1	P;P	0.42337	0.776;0.608	P;P	0.49665	0.618;0.484	D	0.95305	0.8407	10	0.72032	D	0.01	.	11.7686	0.51945	0.0:0.0:0.0:1.0	.	146;39	Q92876;Q92876-2	KLK6_HUMAN;.	A	146;146;39;39	ENSP00000309148:T146A;ENSP00000366047:T146A;ENSP00000375684:T39A;ENSP00000409241:T39A	ENSP00000309148:T146A	T	-	1	0	KLK6	56158379	0.923000	0.31300	0.895000	0.35142	0.981000	0.71138	5.260000	0.65490	1.882000	0.54519	0.398000	0.26397	ACA		0.612	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		20	94	0	0	0	1	0	20	94				
ZNF610	162963	broad.mit.edu	37	19	52869101	52869101	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:52869101A>G	ENST00000403906.3	+	6	926	c.470A>G	c.(469-471)cAt>cGt	p.H157R	ZNF610_ENST00000601151.1_Missense_Mutation_p.H114R|ZNF610_ENST00000321287.8_Missense_Mutation_p.H157R|ZNF610_ENST00000327920.8_Missense_Mutation_p.H157R	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TTTACAAACCATCGTTCCTCA	0.343																																						ENST00000601151.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(340-342)cAt>cGt		zinc finger protein 610							85.0	94.0	91.0					19																	52869101		2203	4300	6503	SO:0001583	missense	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869101A>G	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.470A>G	19.37:g.52869101A>G	ENSP00000383922:p.His157Arg					ZNF610_ENST00000327920.8_Missense_Mutation_p.H157R|ZNF610_ENST00000403906.3_Missense_Mutation_p.H157R|ZNF610_ENST00000321287.8_Missense_Mutation_p.H157R	p.H114R	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	793	+			157					A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	c.341A>G	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	A	3.690	-0.063713	0.07273	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.04809	3.55;3.55	1.11	-1.53	0.08611	.	.	.	.	.	T	0.03608	0.0103	L	0.46157	1.445	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.0	T	0.48969	-0.8987	9	0.13108	T	0.6	.	2.1433	0.03780	0.4155:0.3315:0.253:0.0	.	114;157	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	R	157;114;157	ENSP00000383922:H157R;ENSP00000327597:H157R	ENSP00000324441:H114R	H	+	2	0	ZNF610	57560913	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.576000	0.05854	-0.614000	0.05687	0.260000	0.18958	CAT		0.343	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		31	125	0	0	0	1	0	31	125				
SPTBN5	51332	broad.mit.edu	37	15	42144411	42144411	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr15:42144411C>T	ENST00000320955.6	-	62	10780	c.10553G>A	c.(10552-10554)gGa>gAa	p.G3518E	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3518					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAGCTGTGCTCCTAGCCCCTG	0.672																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(10552-10554)gGa>gAa		spectrin, beta, non-erythrocytic 5							23.0	29.0	27.0					15																	42144411		2078	4215	6293	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42144411C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10553G>A	15.37:g.42144411C>T	ENSP00000317790:p.Gly3518Glu						p.G3518E	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	62	10780	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3518						Missense_Mutation	SNP	ENST00000320955.6	37	c.10553G>A		.	.	.	.	.	.	.	.	.	.	.	0.092	-1.166065	0.01673	.	.	ENSG00000137877	ENST00000320955	T	0.71222	-0.55	3.31	1.29	0.21616	.	0.278593	0.25058	N	0.033475	T	0.46328	0.1387	L	0.27053	0.805	0.09310	N	1	P	0.48162	0.906	B	0.41036	0.346	T	0.52503	-0.8567	10	0.02654	T	1	.	5.6329	0.17520	0.2259:0.5546:0.2195:0.0	.	3518	Q9NRC6	SPTN5_HUMAN	E	3518	ENSP00000317790:G3518E	ENSP00000317790:G3518E	G	-	2	0	SPTBN5	39931703	0.000000	0.05858	0.009000	0.14445	0.034000	0.12701	-0.180000	0.09754	0.202000	0.20498	0.655000	0.94253	GGA		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		10	26	0	0	0	1	0	10	26				
TGFBRAP1	9392	broad.mit.edu	37	2	105915092	105915092	+	Silent	SNP	C	C	T	rs200664212		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:105915092C>T	ENST00000393359.2	-	3	1185	c.759G>A	c.(757-759)gcG>gcA	p.A253A	TGFBRAP1_ENST00000258449.1_Silent_p.A253A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	253	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AGGACACAGCCGCCCCAATCA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		17470	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(757-759)gcG>gcA		transforming growth factor, beta receptor associated protein 1							80.0	73.0	75.0					2																	105915092		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105915092C>T	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.759G>A	2.37:g.105915092C>T						TGFBRAP1_ENST00000258449.1_Silent_p.A253A	p.A253A			Q8WUH2	TGFA1_HUMAN			3	1185	-			253			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.759G>A	CCDS2067.1																																																																																				0.537	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		22	78	0	0	0	1	0	22	78				
RYR1	6261	broad.mit.edu	37	19	38958446	38958446	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:38958446G>A	ENST00000359596.3	+	25	3375	c.3375G>A	c.(3373-3375)ggG>ggA	p.G1125G	RYR1_ENST00000355481.4_Silent_p.G1125G|RYR1_ENST00000360985.3_Silent_p.G1125G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1125	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCTTCAATGGGCACCGCGTGG	0.627																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3373-3375)ggG>ggA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						69.0	51.0	57.0					19																	38958446		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958446G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3375G>A	19.37:g.38958446G>A						RYR1_ENST00000360985.3_Silent_p.G1125G|RYR1_ENST00000359596.3_Silent_p.G1125G	p.G1125G	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3506	+	all_cancers(60;7.91e-06)		1125			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.3375G>A	CCDS33011.1																																																																																				0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			17	63	0	0	0	1	0	17	63				
LARGE	9215	broad.mit.edu	37	22	34000498	34000498	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr22:34000498G>A	ENST00000354992.2	-	6	1109	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	LARGE_ENST00000437602.2_Nonsense_Mutation_p.Q180*|LARGE_ENST00000397394.2_Nonsense_Mutation_p.Q180*|LARGE_ENST00000337431.2_Nonsense_Mutation_p.Q180*|LARGE_ENST00000402320.1_Nonsense_Mutation_p.Q180*	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	180					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCCAGGATCTGCTCCGCAATG	0.572																																					Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(538-540)Cag>Tag		like-glycosyltransferase							161.0	132.0	142.0					22																	34000498		2203	4300	6503	SO:0001587	stop_gained	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34000498G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.538C>T	22.37:g.34000498G>A	ENSP00000347088:p.Gln180*					LARGE_ENST00000397394.2_Nonsense_Mutation_p.Q180*|LARGE_ENST00000437602.2_Nonsense_Mutation_p.Q180*|LARGE_ENST00000402320.1_Nonsense_Mutation_p.Q180*|LARGE_ENST00000337431.2_Nonsense_Mutation_p.Q180*	p.Q180*	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			6	1109	-		Lung NSC(1;0.219)	180					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Nonsense_Mutation	SNP	ENST00000354992.2	37	c.538C>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	G	39	7.597351	0.98381	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602	.	.	.	5.79	5.79	0.91817	.	0.166361	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-7.5091	18.7926	0.91980	0.0:0.0:1.0:0.0	.	.	.	.	X	180	.	ENSP00000336636:Q180X	Q	-	1	0	LARGE	32330498	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.788000	0.69020	2.735000	0.93741	0.561000	0.74099	CAG		0.572	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		25	60	0	0	0	1	0	25	60				
ZAK	51776	broad.mit.edu	37	2	174123463	174123463	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:174123463G>A	ENST00000375213.3	+	17	1474	c.1396G>A	c.(1396-1398)Gat>Aat	p.D466N	MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.D466N|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		466					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										GATGGATGGGGATGAAATTGC	0.323																																						ENST00000375213.3																			0											c.(1396-1398)Gat>Aat									98.0	93.0	94.0					2																	174123463		1846	4091	5937	SO:0001583	missense	51776							g.chr2:174123463G>A																												ENST00000375213.3:c.1396G>A	2.37:g.174123463G>A	ENSP00000364361:p.Asp466Asn					MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.D466N	p.D466N	NM_016653.2	NP_057737.2					17	1474	+								B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Missense_Mutation	SNP	ENST00000375213.3	37	c.1396G>A	CCDS42777.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073392	0.94000	.	.	ENSG00000091436	ENST00000409176;ENST00000375213	T;T	0.79352	-1.26;-1.26	5.24	5.24	0.73138	.	0.089843	0.85682	N	0.000000	D	0.83603	0.5290	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85282	0.1062	10	0.72032	D	0.01	.	19.1938	0.93679	0.0:0.0:1.0:0.0	.	466	Q9NYL2	MLTK_HUMAN	N	466	ENSP00000387259:D466N;ENSP00000364361:D466N	ENSP00000364361:D466N	D	+	1	0	AC013461.1	173831709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.601000	0.87937	0.585000	0.79938	GAT		0.323	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1			6	13	0	0	0	1	0	6	13				
B4GALNT4	338707	broad.mit.edu	37	11	379542	379542	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:379542G>A	ENST00000329962.6	+	15	2329	c.2329G>A	c.(2329-2331)Gtc>Atc	p.V777I		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	777					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCCGAGTACGTCTTCCTGCG	0.736																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(2329-2331)Gtc>Atc		beta-1,4-N-acetyl-galactosaminyl transferase 4							6.0	8.0	7.0					11																	379542		1757	3678	5435	SO:0001583	missense	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:379542G>A	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2329G>A	11.37:g.379542G>A	ENSP00000328277:p.Val777Ile						p.V777I	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	15	2329	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	777					Q96LV2	Missense_Mutation	SNP	ENST00000329962.6	37	c.2329G>A	CCDS7694.1	.	.	.	.	.	.	.	.	.	.	g	13.91	2.379217	0.42207	.	.	ENSG00000182272	ENST00000329962	T	0.23552	1.9	3.61	3.61	0.41365	.	0.219722	0.39407	N	0.001380	T	0.14141	0.0342	N	0.16708	0.43	0.24583	N	0.993868	P	0.41475	0.751	B	0.38296	0.27	T	0.12656	-1.0539	10	0.25106	T	0.35	-26.6926	10.3627	0.44003	0.0998:0.0:0.9002:0.0	.	777	Q76KP1	B4GN4_HUMAN	I	777	ENSP00000328277:V777I	ENSP00000328277:V777I	V	+	1	0	B4GALNT4	369542	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.162000	0.64942	2.022000	0.59522	0.555000	0.69702	GTC		0.736	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		3	12	0	0	0	1	0	3	12				
FLNC	2318	broad.mit.edu	37	7	128492930	128492930	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:128492930G>A	ENST00000325888.8	+	37	6314	c.6053G>A	c.(6052-6054)cGc>cAc	p.R2018H	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R1985H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2018					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGAGCGTGCGCAAGAGTGGC	0.637																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6052-6054)cGc>cAc		filamin C, gamma							59.0	67.0	65.0					7																	128492930		2077	4202	6279	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128492930G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6053G>A	7.37:g.128492930G>A	ENSP00000327145:p.Arg2018His					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R1985H	p.R2018H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			37	6314	+			2018					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6053G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114357	0.77210	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.44482	0.92;0.92	5.73	5.73	0.89815	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.135360	0.48767	D	0.000161	T	0.48187	0.1486	L	0.57536	1.79	0.39186	D	0.96287	D;P	0.58970	0.984;0.94	P;P	0.52758	0.708;0.535	T	0.55256	-0.8169	10	0.87932	D	0	.	7.4977	0.27498	0.1963:0.0:0.8037:0.0	.	1985;2018	Q14315-2;Q14315	.;FLNC_HUMAN	H	2018;1985	ENSP00000327145:R2018H;ENSP00000344002:R1985H	ENSP00000327145:R2018H	R	+	2	0	FLNC	128280166	0.111000	0.22076	1.000000	0.80357	0.987000	0.75469	1.375000	0.34295	2.722000	0.93159	0.655000	0.94253	CGC		0.637	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			4	96	0	0	0	1	0	4	96				
GPR112	139378	broad.mit.edu	37	X	135496331	135496331	+	Missense_Mutation	SNP	G	G	A	rs201992547		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:135496331G>A	ENST00000394143.1	+	25	9341	c.9050G>A	c.(9049-9051)cGg>cAg	p.R3017Q	GPR112_ENST00000394141.1_Missense_Mutation_p.R2812Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2812Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R3017Q|GPR112_ENST00000287534.4_Missense_Mutation_p.R2736Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	3017					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGGAGCAGCCGGTGTCAGATA	0.353													G|||	5	0.0013245	0.0	0.0	3775	,	,		13069	0.0		0.0	False		,,,				2504	0.0051					ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(9049-9051)cGg>cAg		G protein-coupled receptor 112							88.0	91.0	90.0					X																	135496331		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135496331G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.9050G>A	X.37:g.135496331G>A	ENSP00000377699:p.Arg3017Gln					GPR112_ENST00000287534.4_Missense_Mutation_p.R2736Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2812Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2812Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R3017Q	p.R3017Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			25	9341	+	Acute lymphoblastic leukemia(192;0.000127)		3017					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.9050G>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354995	0.24512	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29655	1.6;1.6;1.56;1.82;1.56	4.92	-0.132	0.13489	.	.	.	.	.	T	0.15739	0.0379	L	0.36672	1.1	0.09310	N	1	B;D	0.55172	0.447;0.97	B;B	0.36766	0.066;0.232	T	0.17776	-1.0358	9	0.25106	T	0.35	.	3.5348	0.07790	0.4087:0.0:0.4057:0.1857	.	2812;3017	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Q	3017;3017;2812;2736;2812	ENSP00000377699:R3017Q;ENSP00000359686:R3017Q;ENSP00000416526:R2812Q;ENSP00000287534:R2736Q;ENSP00000377697:R2812Q	ENSP00000287534:R2736Q	R	+	2	0	GPR112	135323997	0.227000	0.23707	0.002000	0.10522	0.007000	0.05969	0.808000	0.27154	-0.154000	0.11118	-0.332000	0.08345	CGG		0.353	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			30	171	0	0	0	1	0	30	171				
KIAA1109	84162	broad.mit.edu	37	4	123275098	123275098	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr4:123275098G>A	ENST00000264501.4	+	82	14604	c.14231G>A	c.(14230-14232)cGc>cAc	p.R4744H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4744H			Q2LD37	K1109_HUMAN	KIAA1109	4744					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ACAAGGCGTCGCCATGAAAAT	0.398																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(14230-14232)cGc>cAc		KIAA1109							90.0	87.0	88.0					4																	123275098		1866	4120	5986	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123275098G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.14231G>A	4.37:g.123275098G>A	ENSP00000264501:p.Arg4744His					KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4744H	p.R4744H			Q2LD37	K1109_HUMAN			82	14604	+			4744					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.14231G>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.155417|5.155417	0.94686|0.94686	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	.|T;T;T	.|0.53206	.|0.63;0.63;0.63	6.04|6.04	6.04|6.04	0.98038|0.98038	.|Fragile site-associated protein, C-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65565|0.65565	0.2703|0.2703	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.997;0.998	.|P;D	.|0.63033	.|0.799;0.91	T|T	0.60596|0.60596	-0.7232|-0.7232	5|10	.|0.44086	.|T	.|0.13	.|.	20.5891|20.5891	0.99427|0.99427	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4743;4744	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	T|H	1120|4744;4744;1413;345	.|ENSP00000264501:R4744H;ENSP00000373390:R4744H;ENSP00000410874:R1413H	.|ENSP00000264501:R4744H	A|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123494548|123494548	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.876000|2.876000	0.98609|0.98609	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.398	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		13	50	0	0	0	1	0	13	50				
FABP12	646486	broad.mit.edu	37	8	82437355	82437355	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr8:82437355C>T	ENST00000360464.4	-	4	411	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	RP11-257P3.3_ENST00000518637.1_RNA|RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	117							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						ACAGTACTTTCCTACAAGACA	0.333																																						ENST00000360464.4																			0				large_intestine(1)|lung(3)	4						c.e4-1		fatty acid binding protein 12							71.0	63.0	65.0					8																	82437355		1842	4092	5934	SO:0001630	splice_region_variant	646486						lipid binding|transporter activity	g.chr8:82437355C>T		CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.349-1G>A	8.37:g.82437355C>T						RP11-257P3.3_ENST00000523380.1_RNA|RP11-257P3.3_ENST00000518637.1_RNA	p.E117_splice	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN			4	411	-			117					B7SUN0	Splice_Site	SNP	ENST00000360464.4	37	c.348_splice	CCDS47882.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502921	0.44558	.	.	ENSG00000197416	ENST00000360464	T	0.10763	2.84	4.78	4.78	0.61160	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.189918	0.46145	D	0.000306	T	0.13500	0.0327	L	0.31207	0.915	0.34163	D	0.668916	P	0.39551	0.678	P	0.47470	0.548	T	0.14035	-1.0487	10	0.37606	T	0.19	.	13.1709	0.59597	0.0:1.0:0.0:0.0	.	117	A6NFH5	FBP12_HUMAN	K	117	ENSP00000353650:E117K	ENSP00000353650:E117K	E	-	1	0	FABP12	82599910	1.000000	0.71417	0.999000	0.59377	0.186000	0.23388	1.369000	0.34227	2.460000	0.83146	0.561000	0.74099	GAA		0.333	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379720.1	NM_001105281	Missense_Mutation	3	6	0	0	0	1	0	3	6				
KLHL34	257240	broad.mit.edu	37	X	21675044	21675044	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:21675044C>T	ENST00000379499.2	-	1	1404	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	288						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCGTGCCCTGCGCCCCCCCAC	0.697																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(862-864)cGc>cAc		kelch-like family member 34							11.0	12.0	12.0					X																	21675044		2191	4265	6456	SO:0001583	missense	257240							g.chrX:21675044C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.863G>A	X.37:g.21675044C>T	ENSP00000368813:p.Arg288His						p.R288H	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	1404	-			288						Missense_Mutation	SNP	ENST00000379499.2	37	c.863G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	2.520	-0.310910	0.05458	.	.	ENSG00000185915	ENST00000379499	T	0.73258	-0.73	4.76	2.85	0.33270	.	0.161613	0.40908	D	0.000985	T	0.60196	0.2250	L	0.47190	1.495	0.09310	N	1	D	0.54772	0.968	B	0.43623	0.425	T	0.52381	-0.8583	10	0.15499	T	0.54	.	10.1009	0.42504	0.3738:0.6262:0.0:0.0	.	288	Q8N239	KLH34_HUMAN	H	288	ENSP00000368813:R288H	ENSP00000368813:R288H	R	-	2	0	KLHL34	21584965	0.771000	0.28555	0.087000	0.20705	0.109000	0.19521	1.682000	0.37628	0.354000	0.24105	0.422000	0.28245	CGC		0.697	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		3	29	0	0	0	1	0	3	29				
NBAS	51594	broad.mit.edu	37	2	15696908	15696908	+	Splice_Site	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:15696908T>C	ENST00000281513.5	-	3	233	c.208A>G	c.(208-210)Agc>Ggc	p.S70G	NBAS_ENST00000441750.1_Splice_Site_p.S70G	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	70					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGACTCACCTGTACCAGATG	0.284																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.e3+1		neuroblastoma amplified sequence							85.0	87.0	87.0					2																	15696908		2203	4296	6499	SO:0001630	splice_region_variant	51594							g.chr2:15696908T>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.209+1A>G	2.37:g.15696908T>C						NBAS_ENST00000441750.1_Splice_Site_p.S70_splice	p.S70_splice	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			3	233	-			70					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Splice_Site	SNP	ENST00000281513.5	37	c.209_splice	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169486	0.38315	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.11821	2.74;2.87	5.46	4.28	0.50868	.	0.095089	0.64402	D	0.000001	T	0.16257	0.0391	L	0.50333	1.59	0.22996	N	0.998453	D	0.53151	0.958	P	0.45276	0.475	T	0.07309	-1.0779	10	0.87932	D	0	.	10.42	0.44344	0.0:0.0:0.1643:0.8357	.	70	A2RRP1	NBAS_HUMAN	G	70	ENSP00000413201:S70G;ENSP00000281513:S70G	ENSP00000281513:S70G	S	-	1	0	NBAS	15614359	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.455000	0.60075	0.889000	0.36185	-0.438000	0.05819	AGC		0.284	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	Missense_Mutation	50	13	0	0	0	1	0	50	13				
TRAM1	23471	broad.mit.edu	37	8	71495489	71495489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr8:71495489G>A	ENST00000262213.2	-	10	1130	c.961C>T	c.(961-963)Cga>Tga	p.R321*	TRAM1_ENST00000536748.1_Nonsense_Mutation_p.R290*|TRAM1_ENST00000521425.1_Nonsense_Mutation_p.R235*|TRAM1_ENST00000521049.1_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	321	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CTCCACCTTCGAAGCTGAAAA	0.378																																					Ovarian(85;984 1334 5116 12432 40638)	ENST00000521425.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.(703-705)Cga>Tga		translocation associated membrane protein 1							113.0	103.0	107.0					8																	71495489		2203	4300	6503	SO:0001587	stop_gained	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71495489G>A	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.961C>T	8.37:g.71495489G>A	ENSP00000262213:p.Arg321*					TRAM1_ENST00000536748.1_Nonsense_Mutation_p.R290*|TRAM1_ENST00000262213.2_Nonsense_Mutation_p.R321*	p.R235*			Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		10	1739	-			321			TLC.		B4E0K2	Nonsense_Mutation	SNP	ENST00000262213.2	37	c.703C>T	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	G	36	5.742074	0.96873	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	.	.	.	5.08	4.2	0.49525	.	0.053595	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.767	0.57396	0.0:0.0:0.5832:0.4168	.	.	.	.	X	235;321;290	.	ENSP00000262213:R321X	R	-	1	2	TRAM1	71658043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.586000	0.46119	1.365000	0.46057	0.563000	0.77884	CGA		0.378	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		8	33	0	0	0	1	0	8	33				
PPP1R15A	23645	broad.mit.edu	37	19	49376951	49376951	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:49376951C>A	ENST00000200453.5	+	2	730	c.461C>A	c.(460-462)tCt>tAt	p.S154Y		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	154					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTGCAAGGTTCTGATAAGAAC	0.542																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(460-462)tCt>tAt		protein phosphatase 1, regulatory subunit 15A							131.0	125.0	127.0					19																	49376951		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49376951C>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.461C>A	19.37:g.49376951C>A	ENSP00000200453:p.Ser154Tyr						p.S154Y	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	730	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	154			Required for localization in the endoplasmic reticulum.		B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.461C>A	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.875957	0.72180	.	.	ENSG00000087074	ENST00000200453;ENST00000544084	T	0.05786	3.39	4.14	1.9	0.25705	.	0.863957	0.09483	N	0.796041	T	0.08268	0.0206	L	0.36672	1.1	0.09310	N	1	D	0.56968	0.978	P	0.49012	0.598	T	0.33954	-0.9848	10	0.72032	D	0.01	-1.9316	5.1381	0.14945	0.0:0.6699:0.2106:0.1195	.	154	O75807	PR15A_HUMAN	Y	154;112	ENSP00000200453:S154Y	ENSP00000200453:S154Y	S	+	2	0	PPP1R15A	54068763	0.003000	0.15002	0.001000	0.08648	0.716000	0.41182	0.909000	0.28558	0.637000	0.30526	0.561000	0.74099	TCT		0.542	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		4	121	1	0	0.150653	1	0.150653	4	121				
COIL	8161	broad.mit.edu	37	17	55027784	55027784	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:55027784C>A	ENST00000240316.4	-	2	853	c.819G>T	c.(817-819)gaG>gaT	p.E273D		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	273						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TTGGTAATTTCTCTGAGGAAT	0.443																																						ENST00000240316.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(817-819)gaG>gaT		coilin							96.0	100.0	99.0					17																	55027784		2203	4300	6503	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55027784C>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.819G>T	17.37:g.55027784C>A	ENSP00000240316:p.Glu273Asp						p.E273D	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	853	-	Breast(9;6.15e-08)		273					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.819G>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409071	0.62399	.	.	ENSG00000121058	ENST00000240316	T	0.77877	-1.13	5.06	0.881	0.19166	.	0.252548	0.37136	N	0.002229	T	0.58652	0.2137	L	0.29908	0.895	0.19300	N	0.999973	P	0.36392	0.551	B	0.34779	0.189	T	0.46938	-0.9155	10	0.24483	T	0.36	-14.331	5.2449	0.15490	0.0:0.4894:0.1787:0.3319	.	273	P38432	COIL_HUMAN	D	273	ENSP00000240316:E273D	ENSP00000240316:E273D	E	-	3	2	COIL	52382783	0.041000	0.20044	0.703000	0.30354	0.241000	0.25554	0.020000	0.13466	0.066000	0.16515	0.552000	0.68991	GAG		0.443	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			30	105	1	0	3.65163e-15	1	3.97383e-15	30	105				
FHL1	2273	broad.mit.edu	37	X	135288733	135288733	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:135288733G>A	ENST00000345434.3	+	2	223	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	FHL1_ENST00000535737.1_Missense_Mutation_p.G48S|FHL1_ENST00000370676.3_Missense_Mutation_p.G64S|FHL1_ENST00000394153.2_Missense_Mutation_p.G48S|FHL1_ENST00000539015.1_Missense_Mutation_p.G77S|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000543669.1_Missense_Mutation_p.G48S|FHL1_ENST00000370683.1_Missense_Mutation_p.G64S|FHL1_ENST00000394155.2_Missense_Mutation_p.G48S|FHL1_ENST00000370690.3_Missense_Mutation_p.G48S			Q13642	FHL1_HUMAN	four and a half LIM domains 1	48	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)	p.G48S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CAAGCCCATCGGTGCGGACTC	0.562																																						ENST00000543669.1																			2	Substitution - Missense(2)	p.G48S(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(142-144)Ggt>Agt		four and a half LIM domains 1							160.0	143.0	149.0					X																	135288733		2203	4300	6503	SO:0001583	missense	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135288733G>A	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.142G>A	X.37:g.135288733G>A	ENSP00000071281:p.Gly48Ser					FHL1_ENST00000345434.3_Missense_Mutation_p.G48S|FHL1_ENST00000535737.1_Missense_Mutation_p.G48S|FHL1_ENST00000394155.2_Missense_Mutation_p.G48S|FHL1_ENST00000394153.2_Missense_Mutation_p.G48S|FHL1_ENST00000370676.3_Missense_Mutation_p.G64S|FHL1_ENST00000539015.1_Missense_Mutation_p.G77S|FHL1_ENST00000370683.1_Missense_Mutation_p.G64S|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000370690.3_Missense_Mutation_p.G48S	p.G48S	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN			2	853	+	Acute lymphoblastic leukemia(192;0.000127)		48			LIM zinc-binding 1.		B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.142G>A	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538779	0.45176	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000536581;ENST00000420362;ENST00000458357;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000449474;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000370676;ENST00000542704;ENST00000370674	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.46	0.652	0.17823	Zinc finger, LIM-type (5);	0.198227	0.53938	N	0.000059	T	0.80481	0.4631	L	0.38692	1.165	0.46131	D	0.99888	P;B;P;P	0.49307	0.71;0.083;0.922;0.836	P;B;P;B	0.44518	0.452;0.104;0.452;0.264	T	0.73563	-0.3943	10	0.40728	T	0.16	.	9.4731	0.38856	0.3644:0.0:0.6356:0.0	.	77;64;64;48	B7Z793;Q5JXI2;B7Z5T4;Q13642	.;.;.;FHL1_HUMAN	S	48;48;28;48;48;48;48;48;48;48;48;88;48;48;77;64;64;64;48	ENSP00000377710:G48S;ENSP00000359724:G48S;ENSP00000391779:G48S;ENSP00000389920:G48S;ENSP00000444815:G48S;ENSP00000408038:G48S;ENSP00000413798:G48S;ENSP00000443333:G48S;ENSP00000377709:G48S;ENSP00000412642:G48S;ENSP00000414604:G48S;ENSP00000071281:G48S;ENSP00000437673:G77S;ENSP00000359717:G64S;ENSP00000359710:G64S;ENSP00000359708:G48S	ENSP00000071281:G48S	G	+	1	0	FHL1	135116399	0.981000	0.34729	0.011000	0.14972	0.743000	0.42351	1.785000	0.38684	-0.338000	0.08413	-0.881000	0.02953	GGT		0.562	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		61	276	0	0	0	1	0	61	276				
PCDH20	64881	broad.mit.edu	37	13	61987983	61987983	+	Silent	SNP	G	G	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr13:61987983G>T	ENST00000409186.1	-	5	2354	c.249C>A	c.(247-249)ggC>ggA	p.G83G	PCDH20_ENST00000409204.4_Silent_p.G83G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	83	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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CGGCCAGGCTGCCGATGAGCA	0.687																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(247-249)ggC>ggA		protocadherin 20							12.0	13.0	13.0					13																	61987983		2182	4273	6455	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987983G>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.249C>A	13.37:g.61987983G>T						PCDH20_ENST00000409204.4_Silent_p.G83G	p.G83G			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	2354	-		Breast(118;0.195)|Prostate(109;0.229)	56			Cadherin 1.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.249C>A	CCDS9442.2																																																																																				0.687	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		5	23	1	0	1.23904e-05	1	1.26177e-05	5	23				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			729171							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	98	0	0	0	1	0	6	98				
LUZP1	7798	broad.mit.edu	37	1	23418370	23418370	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:23418370G>A	ENST00000302291.4	-	4	3186	c.2385C>T	c.(2383-2385)agC>agT	p.S795S	LUZP1_ENST00000314174.5_Silent_p.S795S|LUZP1_ENST00000374623.3_Silent_p.S795S|LUZP1_ENST00000418342.1_Silent_p.S795S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	795					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		ATATAGTAATGCTACTTGTCA	0.507																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(2383-2385)agC>agT		leucine zipper protein 1							118.0	110.0	113.0					1																	23418370		2203	4300	6503	SO:0001819	synonymous_variant	7798					nucleus		g.chr1:23418370G>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2385C>T	1.37:g.23418370G>A						LUZP1_ENST00000374623.3_Silent_p.S795S|LUZP1_ENST00000418342.1_Silent_p.S795S|LUZP1_ENST00000314174.5_Silent_p.S795S	p.S795S			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	4	3186	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	795					Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	ENST00000302291.4	37	c.2385C>T	CCDS30628.1																																																																																				0.507	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		15	46	0	0	0	1	0	15	46				
HEATR5A	25938	broad.mit.edu	37	14	31792926	31792926	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr14:31792926C>T	ENST00000389961.3	-	23	3613	c.3614G>A	c.(3613-3615)cGt>cAt	p.R1205H	HEATR5A_ENST00000439727.1_Missense_Mutation_p.R918H|HEATR5A_ENST00000543095.2_Missense_Mutation_p.R1211H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1205H			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1205										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTTTTCATCACGTCTGGTGGT	0.413																																						ENST00000543095.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26						c.(3631-3633)cGt>cAt		HEAT repeat containing 5A							148.0	135.0	139.0					14																	31792926		1902	4118	6020	SO:0001583	missense	25938						binding	g.chr14:31792926C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.3614G>A	14.37:g.31792926C>T	ENSP00000374611:p.Arg1205His					HEATR5A_ENST00000439727.1_Missense_Mutation_p.R918H|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1205H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1205H	p.R1211H	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	24	3816	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1205					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.3632G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.038|8.038	0.763176|0.763176	0.15914|0.15914	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095|ENST00000538864	T;T;T;T|.	0.65916|.	-0.18;-0.18;-0.18;-0.18|.	5.13|5.13	-0.427|-0.427	0.12310|0.12310	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.600532|.	0.18097|.	N|.	0.151809|.	T|T	0.22666|0.22666	0.0547|0.0547	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.29579|0.29579	-1.0007|-1.0007	10|5	0.54805|.	T|.	0.06|.	.|.	6.356|6.356	0.21402|0.21402	0.0:0.373:0.1279:0.4992|0.0:0.373:0.1279:0.4992	.|.	1205;1205|.	Q86XA9-2;Q86XA9|.	.;HTR5A_HUMAN|.	H|M	1205;1205;918;1211|839	ENSP00000374611:R1205H;ENSP00000405407:R1205H;ENSP00000408681:R918H;ENSP00000437968:R1211H|.	ENSP00000374611:R1205H|.	R|V	-|-	2|1	0|0	HEATR5A|HEATR5A	30862677|30862677	0.000000|0.000000	0.05858|0.05858	0.102000|0.102000	0.21198|0.21198	0.258000|0.258000	0.26162|0.26162	-0.685000|-0.685000	0.05167|0.05167	-0.016000|-0.016000	0.14127|0.14127	-0.786000|-0.786000	0.03341|0.03341	CGT|GTG		0.413	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		18	60	0	0	0	1	0	18	60				
SPG11	80208	broad.mit.edu	37	15	44865722	44865722	+	Intron	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr15:44865722G>A	ENST00000261866.7	-	32	6222				SPG11_ENST00000558319.1_Silent_p.S2076S|SPG11_ENST00000535302.2_Intron|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)						cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGAGAGGTTGGGAATCCCCGG	0.502																																						ENST00000558319.1																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(6226-6228)tcC>tcT		spastic paraplegia 11 (autosomal recessive)							42.0	38.0	39.0					15																	44865722		2198	4298	6496	SO:0001627	intron_variant	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44865722G>A		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6205+22C>T	15.37:g.44865722G>A						SPG11_ENST00000535302.2_Intron|SPG11_ENST00000261866.7_Intron|SPG11_ENST00000427534.2_Intron	p.S2076S			Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	32	6258	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	0					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	c.6228C>T	CCDS10112.1																																																																																				0.502	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			4	27	0	0	0	1	0	4	27				
FRMPD3	84443	broad.mit.edu	37	X	106844589	106844589	+	Missense_Mutation	SNP	C	C	T	rs368612181		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:106844589C>T	ENST00000276185.4	+	16	3419	c.3419C>T	c.(3418-3420)gCg>gTg	p.A1140V				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1140						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGGGAGAAGGCGCAGCTGGAG	0.632																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(3418-3420)gCg>gTg		FERM and PDZ domain containing 3		C	VAL/ALA	0,1418		0,0,542,334	32.0	33.0	32.0		3554	2.0	0.9	X		32	2,3104		0,2,1114,874	no	missense	FRMPD3	XM_042978.7	64	0,2,1656,1208	TT,TC,CC,C		0.0644,0.0,0.0442		1185/1856	106844589	2,4522	876	1990	2866	SO:0001583	missense	84443					cytoskeleton		g.chrX:106844589C>T	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.3419C>T	X.37:g.106844589C>T	ENSP00000276185:p.Ala1140Val						p.A1140V			Q5JV73	FRPD3_HUMAN			16	3419	+			1140					Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.3419C>T		.	.	.	.	.	.	.	.	.	.	C	7.576	0.667805	0.14710	0.0	6.44E-4	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.13901	2.55;2.55	3.74	1.95	0.26073	.	2.472550	0.01301	N	0.010299	T	0.09730	0.0239	N	0.19112	0.55	0.20563	N	0.999886	.	.	.	.	.	.	T	0.30238	-0.9985	8	0.16896	T	0.51	.	6.0787	0.19928	0.0:0.3458:0.3228:0.3314	.	.	.	.	V	1140;1088	ENSP00000276185:A1140V;ENSP00000398668:A1088V	ENSP00000276185:A1140V	A	+	2	0	FRMPD3	106731245	0.850000	0.29656	0.865000	0.33974	0.491000	0.33493	0.438000	0.21559	0.155000	0.19261	-0.422000	0.05995	GCG		0.632	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		9	61	0	0	0	1	0	9	61				
HIPK1	204851	broad.mit.edu	37	1	114515704	114515704	+	Missense_Mutation	SNP	G	G	A	rs373924938		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:114515704G>A	ENST00000369558.1	+	16	3435	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H	HIPK1_ENST00000369555.2_Missense_Mutation_p.R1023H|HIPK1_ENST00000369554.2_Missense_Mutation_p.R1023H|HIPK1_ENST00000340480.4_Missense_Mutation_p.R694H|HIPK1_ENST00000406344.1_Missense_Mutation_p.R674H|HIPK1_ENST00000369553.1_Missense_Mutation_p.R674H|HIPK1_ENST00000369561.4_Missense_Mutation_p.R1034H|HIPK1_ENST00000426820.2_Missense_Mutation_p.R1068H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1068	Interaction with TP53.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGCCCCCCGCAGGCAGCAG	0.627																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(3202-3204)cGc>cAc		homeodomain interacting protein kinase 1		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	85.0	96.0	93.0		2021,3203,2081	5.8	1.0	1		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	HIPK1	NM_181358.2,NM_198268.2,NM_198269.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	674/817,1068/1211,694/837	114515704	1,13005	2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114515704G>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3203G>A	1.37:g.114515704G>A	ENSP00000358571:p.Arg1068His					HIPK1_ENST00000369555.2_Missense_Mutation_p.R1023H|HIPK1_ENST00000369553.1_Missense_Mutation_p.R674H|HIPK1_ENST00000369554.2_Missense_Mutation_p.R1023H|HIPK1_ENST00000426820.2_Missense_Mutation_p.R1068H|HIPK1_ENST00000369561.4_Missense_Mutation_p.R1034H|HIPK1_ENST00000340480.4_Missense_Mutation_p.R694H|HIPK1_ENST00000406344.1_Missense_Mutation_p.R674H	p.R1068H			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	3435	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1068			Interaction with TP53.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.3203G>A	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466276	0.84425	0.0	1.16E-4	ENSG00000163349	ENST00000426820;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T	0.63744	-0.06;0.03;-0.01;-0.01;0.03;-0.02;3.05;2.14;2.14	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.75184	0.3815	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.948	T	0.75811	-0.3186	10	0.72032	D	0.01	.	20.099	0.97865	0.0:0.0:1.0:0.0	.	360;674;1068	E9PCF6;Q86Z02-4;Q86Z02	.;.;HIPK1_HUMAN	H	1139;1068;1023;1023;1068;1034;694;674;674	ENSP00000407442:R1139H;ENSP00000409673:R1068H;ENSP00000358567:R1023H;ENSP00000358568:R1023H;ENSP00000358571:R1068H;ENSP00000358574:R1034H;ENSP00000340956:R694H;ENSP00000358566:R674H;ENSP00000384960:R674H	ENSP00000340956:R694H	R	+	2	0	HIPK1	114317227	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.654000	0.83653	2.752000	0.94435	0.655000	0.94253	CGC		0.627	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		5	269	0	0	0	1	0	5	269				
GPCPD1	56261	broad.mit.edu	37	20	5528493	5528493	+	Silent	SNP	T	T	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:5528493T>G	ENST00000379019.4	-	20	2045	c.1833A>C	c.(1831-1833)atA>atC	p.I611I	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	611	GP-PDE.				glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TCCAATCATATATCCTATGAT	0.373																																						ENST00000379019.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(1831-1833)atA>atC		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							107.0	112.0	111.0					20																	5528493		2203	4300	6503	SO:0001819	synonymous_variant	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5528493T>G		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1833A>C	20.37:g.5528493T>G						GPCPD1_ENST00000481038.1_5'UTR	p.I611I	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN			20	2045	-			611			GDPD.		D3DW06|Q9BQL8|Q9NUX0	Silent	SNP	ENST00000379019.4	37	c.1833A>C	CCDS13090.1	.	.	.	.	.	.	.	.	.	.	t	6.710	0.499679	0.12762	.	.	ENSG00000125772	ENST00000418646	T	0.30714	1.52	5.51	1.91	0.25777	.	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05733	-1.0867	7	0.12430	T	0.62	-23.9042	7.4401	0.27179	0.3528:0.0:0.1227:0.5245	.	.	.	.	L	203	ENSP00000396720:I203L	ENSP00000396720:I203L	I	-	1	0	GPCPD1	5476493	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	1.584000	0.36589	0.039000	0.15632	-0.309000	0.09137	ATA		0.373	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		28	169	0	0	0	1	0	28	169				
NPHP4	261734	broad.mit.edu	37	1	5950982	5950982	+	Silent	SNP	G	G	A	rs201090359		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:5950982G>A	ENST00000378156.4	-	17	2515	c.2250C>T	c.(2248-2250)gaC>gaT	p.D750D	AL356261.1_ENST00000585151.1_RNA|NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	750					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGTCCCAGACGTCAATCTGCA	0.637																																						ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(2248-2250)gaC>gaT		nephronophthisis 4		G		0,4030		0,0,2015	29.0	31.0	30.0		2250	-1.6	0.8	1		30	4,8352		0,4,4174	yes	coding-synonymous	NPHP4	NM_015102.3		0,4,6189	AA,AG,GG		0.0479,0.0,0.0323		750/1427	5950982	4,12382	2015	4178	6193	SO:0001819	synonymous_variant	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5950982G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2250C>T	1.37:g.5950982G>A						NPHP4_ENST00000478423.2_5'UTR	p.D750D	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	17	2515	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	750					Q8IWC0	Silent	SNP	ENST00000378156.4	37	c.2250C>T	CCDS44052.1																																																																																				0.637	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			3	27	0	0	0	1	0	3	27				
CLK2	1196	broad.mit.edu	37	1	155240608	155240608	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:155240608C>T	ENST00000368361.4	-	2	476	c.161G>A	c.(160-162)cGt>cAt	p.R54H	CLK2_ENST00000355560.4_Missense_Mutation_p.R54H|CLK2_ENST00000497188.1_5'Flank|CLK2_ENST00000361168.5_Missense_Mutation_p.R54H|CLK2_ENST00000536801.1_Missense_Mutation_p.R54H			P49760	CLK2_HUMAN	CDC-like kinase 2	54					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTTCGAGAACGGACATGGTA	0.498								Other conserved DNA damage response genes																														ENST00000368361.4																			0				endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22						c.(160-162)cGt>cAt	Other conserved DNA damage response genes	CDC-like kinase 2							115.0	111.0	113.0					1																	155240608		2203	4300	6503	SO:0001583	missense	1196					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:155240608C>T	L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.161G>A	1.37:g.155240608C>T	ENSP00000357345:p.Arg54His					CLK2_ENST00000361168.5_Missense_Mutation_p.R54H|CLK2_ENST00000355560.4_Missense_Mutation_p.R54H|CLK2_ENST00000536801.1_Missense_Mutation_p.R54H	p.R54H			P49760	CLK2_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	476	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		54					B1AVS9|B5MBX6|Q96CQ0	Missense_Mutation	SNP	ENST00000368361.4	37	c.161G>A		.	.	.	.	.	.	.	.	.	.	.	20.9	4.072759	0.76415	.	.	ENSG00000176444	ENST00000361168;ENST00000368361;ENST00000355560;ENST00000536801	T;T;T;T	0.55413	0.52;0.53;0.52;0.53	4.47	4.47	0.54385	.	1.038350	0.07525	N	0.911146	T	0.62478	0.2431	L	0.52573	1.65	0.58432	D	0.999997	D;D	0.69078	0.995;0.997	D;D	0.74674	0.964;0.984	T	0.58036	-0.7707	10	0.59425	D	0.04	.	15.88	0.79197	0.0:1.0:0.0:0.0	.	54;54	P49760;P49760-3	CLK2_HUMAN;.	H	54	ENSP00000354856:R54H;ENSP00000357345:R54H;ENSP00000347759:R54H;ENSP00000441023:R54H	ENSP00000347759:R54H	R	-	2	0	CLK2	153507232	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.853000	0.62911	2.330000	0.79161	0.549000	0.68633	CGT		0.498	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000087391.1	NM_003993		33	129	0	0	0	1	0	33	129				
SMAD5	4090	broad.mit.edu	37	5	135508250	135508250	+	Silent	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr5:135508250T>C	ENST00000545279.1	+	6	1263	c.903T>C	c.(901-903)gaT>gaC	p.D301D	SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Silent_p.D301D	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	301	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATTCACAGATCCTTCAAATA	0.343																																						ENST00000545279.1																			0				central_nervous_system(1)|large_intestine(4)|lung(3)	8						c.(901-903)gaT>gaC		SMAD family member 5							172.0	167.0	169.0					5																	135508250		1857	4090	5947	SO:0001819	synonymous_variant	4090				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	g.chr5:135508250T>C	U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.903T>C	5.37:g.135508250T>C						SMAD5_ENST00000545620.1_Silent_p.D301D|SMAD5_ENST00000514641.2_3'UTR	p.D301D	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	1263	+			301			MH2.		O14688|Q15798|Q9UQA1	Silent	SNP	ENST00000545279.1	37	c.903T>C		.	.	.	.	.	.	.	.	.	.	T	8.431	0.848526	0.17034	.	.	ENSG00000113658	ENST00000507637	.	.	.	5.87	-0.427	0.12310	.	.	.	.	.	T	0.56077	0.1961	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50676	-0.8800	4	.	.	.	.	9.9923	0.41879	0.0:0.4222:0.0:0.5778	.	.	.	.	P	124	.	.	S	+	1	0	SMAD5	135536149	0.998000	0.40836	0.998000	0.56505	0.910000	0.53928	0.588000	0.23924	-0.019000	0.14055	-0.274000	0.10170	TCC		0.343	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005903		18	79	0	0	0	1	0	18	79				
TCTE1	202500	broad.mit.edu	37	6	44248010	44248010	+	Missense_Mutation	SNP	C	C	T	rs533816994		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr6:44248010C>T	ENST00000371505.4	-	5	1536	c.1414G>A	c.(1414-1416)Gca>Aca	p.A472T	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.A169T|TCTE1_ENST00000371504.1_Missense_Mutation_p.A169T	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	472										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTCGGTTTGCGTAGAGGGCC	0.557																																						ENST00000371505.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1414-1416)Gca>Aca		t-complex-associated-testis-expressed 1							94.0	97.0	96.0					6																	44248010		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44248010C>T	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1414G>A	6.37:g.44248010C>T	ENSP00000360560:p.Ala472Thr					TCTE1_ENST00000371504.1_Missense_Mutation_p.A169T|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.A169T	p.A472T	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	1536	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		472					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.1414G>A	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648445	0.47258	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.53206	0.63;0.88;0.88	4.96	2.16	0.27623	.	0.557335	0.18639	N	0.135341	T	0.12390	0.0301	L	0.46157	1.445	0.09310	N	1	B	0.29037	0.231	B	0.14023	0.01	T	0.32877	-0.9890	10	0.07482	T	0.82	-11.9815	8.2953	0.31982	0.0:0.6149:0.0:0.3851	.	472	Q5JU00	TCTE1_HUMAN	T	472;169;169	ENSP00000360560:A472T;ENSP00000360558:A169T;ENSP00000360559:A169T	ENSP00000360558:A169T	A	-	1	0	TCTE1	44355988	0.266000	0.24112	0.266000	0.24541	0.539000	0.34962	0.681000	0.25320	0.222000	0.20900	0.563000	0.77884	GCA		0.557	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		4	146	0	0	0	1	0	4	146				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																729171							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	103	0	0	0	1	0	6	103				
OR2AG2	338755	broad.mit.edu	37	11	6789497	6789497	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:6789497T>C	ENST00000338569.2	-	1	789	c.692A>G	c.(691-693)aAt>aGt	p.N231S		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCTCCCCTCATTTGATGGCAT	0.493																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(691-693)aAt>aGt		olfactory receptor, family 2, subfamily AG, member 2							104.0	90.0	95.0					11																	6789497		2201	4296	6497	SO:0001583	missense	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789497T>C	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.692A>G	11.37:g.6789497T>C	ENSP00000342697:p.Asn231Ser						p.N231S	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	789	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	231						Missense_Mutation	SNP	ENST00000338569.2	37	c.692A>G	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	T	3.020	-0.201937	0.06219	.	.	ENSG00000188124	ENST00000338569	T	0.00051	8.81	4.47	-6.76	0.01732	GPCR, rhodopsin-like superfamily (1);	0.867235	0.09988	N	0.730078	T	0.00073	0.0002	N	0.02202	-0.64	0.09310	N	1	B	0.17038	0.02	B	0.22152	0.038	T	0.10941	-1.0608	10	0.40728	T	0.16	.	7.0508	0.25071	0.0:0.294:0.3869:0.3191	.	231	A6NM03	O2AG2_HUMAN	S	231	ENSP00000342697:N231S	ENSP00000342697:N231S	N	-	2	0	OR2AG2	6746073	0.000000	0.05858	0.000000	0.03702	0.464000	0.32679	-1.243000	0.02905	-1.291000	0.02368	-0.250000	0.11733	AAT		0.493	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		12	49	0	0	0	1	0	12	49				
ZHX3	23051	broad.mit.edu	37	20	39831887	39831887	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:39831887G>A	ENST00000309060.3	-	4	2085	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.A557V|ZHX3_ENST00000559234.1_Missense_Mutation_p.A557V|ZHX3_ENST00000432768.2_Missense_Mutation_p.A557V|ZHX3_ENST00000544979.2_Missense_Mutation_p.A557V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A557V|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	557					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGGTATCATCGCTCTGGAGCC	0.522																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1669-1671)gCg>gTg		zinc fingers and homeoboxes 3							135.0	125.0	128.0					20																	39831887		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39831887G>A	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.1670C>T	20.37:g.39831887G>A	ENSP00000312222:p.Ala557Val					ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.A557V|ZHX3_ENST00000559234.1_Missense_Mutation_p.A557V|ZHX3_ENST00000432768.2_Missense_Mutation_p.A557V|ZHX3_ENST00000540170.1_Missense_Mutation_p.A557V|ZHX3_ENST00000560361.1_Missense_Mutation_p.A557V	p.A557V			Q9H4I2	ZHX3_HUMAN			4	2085	-		Myeloproliferative disorder(115;0.00425)	557					E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.1670C>T	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	6.505	0.461428	0.12342	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262	T;T;T	0.12774	2.87;2.87;2.65	5.93	-0.191	0.13252	Homeodomain-like (1);	1.064380	0.07163	N	0.851031	T	0.13200	0.0320	L	0.46157	1.445	0.09310	N	1	B;B;B	0.16166	0.001;0.001;0.016	B;B;B	0.08055	0.002;0.002;0.003	T	0.37103	-0.9720	10	0.31617	T	0.26	-1.2857	9.9692	0.41743	0.1835:0.289:0.5275:0.0	.	557;557;557	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	V	557;557;557;557;335	ENSP00000362360:A557V;ENSP00000442290:A557V;ENSP00000443783:A557V	ENSP00000312222:A557V	A	-	2	0	ZHX3	39265301	0.000000	0.05858	0.005000	0.12908	0.621000	0.37620	0.677000	0.25262	-0.099000	0.12263	-1.134000	0.01955	GCG		0.522	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		24	130	0	0	0	1	0	24	130				
PIK3R3	8503	broad.mit.edu	37	1	46521491	46521491	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:46521491C>T	ENST00000262741.5	-	7	1606	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	PIK3R3_ENST00000540385.1_Missense_Mutation_p.R352Q|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R306Q|PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R306Q	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	306					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)	p.R306Q(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TCGGATCTTTCGCAGCTGGAT	0.453																																						ENST00000262741.5																			1	Substitution - Missense(1)	p.R306Q(1)	large_intestine(1)	endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(916-918)cGa>cAa		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							221.0	201.0	208.0					1																	46521491		2203	4300	6503	SO:0001583	missense	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46521491C>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.917G>A	1.37:g.46521491C>T	ENSP00000262741:p.Arg306Gln					PIK3R3_ENST00000540385.1_Missense_Mutation_p.R352Q|PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R306Q|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R306Q|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000488808.1_5'UTR	p.R306Q	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			7	1606	-	Acute lymphoblastic leukemia(166;0.155)		306					B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	c.917G>A	CCDS529.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055908	0.76074	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000540385	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.48	4.54	0.55810	.	0.048598	0.85682	D	0.000000	T	0.31606	0.0802	M	0.76002	2.32	0.80722	D	1	B;P;B	0.35807	0.311;0.522;0.171	B;B;B	0.19946	0.01;0.027;0.011	T	0.20306	-1.0279	10	0.41790	T	0.15	.	15.723	0.77728	0.1377:0.8623:0.0:0.0	.	352;339;306	F6TDL0;Q7Z3W2;Q92569	.;.;P55G_HUMAN	Q	306;306;306;352	ENSP00000361075:R306Q;ENSP00000262741:R306Q;ENSP00000412546:R306Q;ENSP00000439913:R352Q	ENSP00000262741:R306Q	R	-	2	0	PIK3R3	46294078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	1.409000	0.46915	0.650000	0.86243	CGA		0.453	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		4	159	0	0	0	1	0	4	159				
OR6B2	389090	broad.mit.edu	37	2	240969703	240969703	+	Silent	SNP	G	G	A	rs142836659	byFrequency	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:240969703G>A	ENST00000402971.2	-	1	203	c.144C>T	c.(142-144)atC>atT	p.I48I		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGCTCCAGACGATGAGGATGA	0.582													g|||	2	0.000399361	0.0	0.0	5008	,	,		26544	0.0		0.002	False		,,,				2504	0.0					ENST00000402971.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(142-144)atC>atT		olfactory receptor, family 6, subfamily B, member 2		G		0,4256		0,0,2128	134.0	140.0	138.0		144	-6.3	0.5	2	dbSNP_134	138	4,8508		0,4,4252	no	coding-synonymous	OR6B2	NM_001005853.1		0,4,6380	AA,AG,GG		0.047,0.0,0.0313		48/313	240969703	4,12764	2128	4256	6384	SO:0001819	synonymous_variant	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969703G>A		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.144C>T	2.37:g.240969703G>A							p.I48I	NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	1	203	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	48					B2RPR3|Q8NGW0	Silent	SNP	ENST00000402971.2	37	c.144C>T	CCDS46559.1																																																																																				0.582	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		61	88	0	0	0	1	0	61	88				
ABCB4	5244	broad.mit.edu	37	7	87037495	87037495	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:87037495C>T	ENST00000265723.4	-	25	3248	c.3137G>A	c.(3136-3138)cGa>cAa	p.R1046Q	ABCB4_ENST00000359206.3_Missense_Mutation_p.R1046Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.R999Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.R1046Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R999Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1046	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CACGTTTGCTCGGGTGGGATA	0.458																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(3136-3138)cGa>cAa		ATP-binding cassette, sub-family B (MDR/TAP), member 4							77.0	77.0	77.0					7																	87037495		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87037495C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3137G>A	7.37:g.87037495C>T	ENSP00000265723:p.Arg1046Gln					ABCB4_ENST00000359206.3_Missense_Mutation_p.R1046Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.R999Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.R1046Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R999Q	p.R1046Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			25	3248	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1046			ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.3137G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323618	0.60634	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7	5.02	4.14	0.48551	ABC transporter-like (1);	0.243794	0.42420	N	0.000716	D	0.90703	0.7083	N	0.16567	0.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;0.999	D	0.92107	0.5693	10	0.87932	D	0	-13.8514	13.9969	0.64407	0.0:0.9264:0.0:0.0736	.	999;1046;1046	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	Q	1046;999;1046;999;1046	ENSP00000352135:R1046Q;ENSP00000351172:R999Q;ENSP00000265723:R1046Q;ENSP00000392983:R999Q;ENSP00000437465:R1046Q	ENSP00000265723:R1046Q	R	-	2	0	ABCB4	86875431	1.000000	0.71417	0.124000	0.21820	0.126000	0.20510	6.014000	0.70784	1.259000	0.44117	-0.126000	0.14955	CGA		0.458	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		14	56	0	0	0	1	0	14	56				
SDCCAG8	10806	broad.mit.edu	37	1	243449654	243449654	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:243449654A>C	ENST00000366541.3	+	5	619	c.501A>C	c.(499-501)caA>caC	p.Q167H	SDCCAG8_ENST00000391846.1_Missense_Mutation_p.Q167H|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q167H|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q22H	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	167					establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TAAAATCTCAAAGACAAGAGG	0.358																																						ENST00000366541.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(499-501)caA>caC		serologically defined colon cancer antigen 8							86.0	94.0	91.0					1																	243449654		2202	4300	6502	SO:0001583	missense	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243449654A>C	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.501A>C	1.37:g.243449654A>C	ENSP00000355499:p.Gln167His					SDCCAG8_ENST00000343783.6_Missense_Mutation_p.Q22H|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.Q167H|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.Q167H	p.Q167H	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	5	619	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	167					O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Missense_Mutation	SNP	ENST00000366541.3	37	c.501A>C	CCDS31075.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.941886	0.34283	.	.	ENSG00000054282	ENST00000355875;ENST00000391846;ENST00000366541;ENST00000343783	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.77	2.43	0.29744	.	0.380726	0.25283	N	0.031794	T	0.29749	0.0743	L	0.57536	1.79	0.19575	N	0.999969	B;P	0.46277	0.015;0.875	B;P	0.50617	0.025;0.646	T	0.09684	-1.0663	10	0.44086	T	0.13	-2.414	4.2541	0.10708	0.6415:0.1726:0.186:0.0	.	167;167	E9PFS7;Q86SQ7	.;SDCG8_HUMAN	H	167;167;167;22	ENSP00000348137:Q167H;ENSP00000375721:Q167H;ENSP00000355499:Q167H;ENSP00000341260:Q22H	ENSP00000341260:Q22H	Q	+	3	2	SDCCAG8	241516277	0.986000	0.35501	0.886000	0.34754	0.975000	0.68041	1.656000	0.37355	0.287000	0.22375	0.533000	0.62120	CAA		0.358	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642		17	61	0	0	0	1	0	17	61				
PHF3	23469	broad.mit.edu	37	6	64401688	64401688	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr6:64401688C>T	ENST00000262043.3	+	5	2591	c.2251C>T	c.(2251-2253)Ctt>Ttt	p.L751F	PHF3_ENST00000393387.1_Missense_Mutation_p.L751F			Q92576	PHF3_HUMAN	PHD finger protein 3	751					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGGGTTAAGTCTTTCTCAAGC	0.393																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2251-2253)Ctt>Ttt		PHD finger protein 3							173.0	180.0	178.0					6																	64401688		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64401688C>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2251C>T	6.37:g.64401688C>T	ENSP00000262043:p.Leu751Phe					PHF3_ENST00000393387.1_Missense_Mutation_p.L751F	p.L751F			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		5	2591	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		751					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2251C>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044973	0.55110	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.11	5.11	0.69529	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.35555	N	0.003134	D	0.87120	0.6098	L	0.34521	1.04	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	D	0.88075	0.2803	10	0.56958	D	0.05	-17.8468	18.8994	0.92435	0.0:1.0:0.0:0.0	.	751	Q92576	PHF3_HUMAN	F	565;663;20;751;704;751	ENSP00000424694:L565F;ENSP00000425227:L663F;ENSP00000425338:L20F;ENSP00000262043:L751F;ENSP00000424078:L704F;ENSP00000377048:L751F	ENSP00000262043:L751F	L	+	1	0	PHF3	64459647	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.801000	0.62532	2.536000	0.85505	0.585000	0.79938	CTT		0.393	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			34	142	0	0	0	1	0	34	142				
CXCL12	6387	broad.mit.edu	37	10	44871427	44871427	+	Intron	SNP	C	C	T	rs190476062		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr10:44871427C>T	ENST00000374429.2	-	4	353				CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374426.2_Missense_Mutation_p.R107Q|CXCL12_ENST00000395795.4_Intron|AL137026.1_ENST00000593376.1_5'Flank|CXCL12_ENST00000496375.1_5'Flank	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12						adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	CTTCTTCTGTCGCTTCTTTTT	0.393													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17086	0.0		0.0	False		,,,				2504	0.0					ENST00000374426.2																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(319-321)cGa>cAa		chemokine (C-X-C motif) ligand 12	Dexamethasone(DB01234)						323.0	327.0	326.0					10																	44871427		2203	4298	6501	SO:0001627	intron_variant	6387				blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	g.chr10:44871427C>T	L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"""Endogenous ligands"""	10672	protein-coding gene	gene with protein product		600835	"""stromal cell-derived factor 1"""	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.267-2636G>A	10.37:g.44871427C>T						CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron	p.R107Q	NM_001033886.2	NP_001029058.1	P48061	SDF1_HUMAN			4	357	-			0					B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Missense_Mutation	SNP	ENST00000374429.2	37	c.320G>A	CCDS44373.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.65	1.701445	0.30142	.	.	ENSG00000107562	ENST00000374426	T	0.23348	1.91	5.55	4.65	0.58169	.	.	.	.	.	T	0.17109	0.0411	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.06267	-1.0836	8	0.22109	T	0.4	.	10.6429	0.45602	0.0:0.9114:0.0:0.0886	.	107	P48061-3	.	Q	107	ENSP00000363548:R107Q	ENSP00000363548:R107Q	R	-	2	0	CXCL12	44191433	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.505000	0.53356	1.490000	0.48466	0.655000	0.94253	CGA		0.393	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609		4	100	0	0	0	1	0	4	100				
ZBTB22	9278	broad.mit.edu	37	6	33282955	33282955	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr6:33282955G>A	ENST00000431845.2	-	2	1890	c.1739C>T	c.(1738-1740)aCt>aTt	p.T580I	TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.T580I|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	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(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCCCGTGGGAGTCCCAGGCCC	0.706																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1738-1740)aCt>aTt		zinc finger and BTB domain containing 22							21.0	25.0	23.0					6																	33282955		2199	4298	6497	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33282955G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1739C>T	6.37:g.33282955G>A	ENSP00000407545:p.Thr580Ile					ZBTB22_ENST00000418724.1_Missense_Mutation_p.T580I	p.T580I	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	1890	-			580					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1739C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	4.254	0.046122	0.08243	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.06068	3.35;3.35	3.45	0.601	0.17529	.	1.598650	0.04425	N	0.368238	T	0.01254	0.0041	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46775	-0.9167	10	0.38643	T	0.18	.	6.1248	0.20174	0.1345:0.5292:0.3363:0.0	.	580	O15209	ZBT22_HUMAN	I	580	ENSP00000404403:T580I;ENSP00000407545:T580I	ENSP00000404403:T580I	T	-	2	0	ZBTB22	33390933	0.002000	0.14202	0.000000	0.03702	0.560000	0.35617	0.185000	0.16958	0.096000	0.17463	0.542000	0.68232	ACT		0.706	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			43	19	0	0	0	1	0	43	19				
ZNF365	22891	broad.mit.edu	37	10	64159482	64159482	+	Silent	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr10:64159482C>T	ENST00000395254.3	+	5	1438	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.G386G(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGGGGTTTGGCCGCAAAGGCA	0.537																																						ENST00000395254.3																			2	Substitution - coding silent(2)	p.G386G(2)	prostate(1)|endometrium(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1156-1158)ggC>ggT		zinc finger protein 365							58.0	58.0	58.0					10																	64159482		2203	4300	6503	SO:0001819	synonymous_variant	22891							g.chr10:64159482C>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.1158C>T	10.37:g.64159482C>T						ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	p.G386G	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			5	1438	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Silent	SNP	ENST00000395254.3	37	c.1158C>T	CCDS31209.1																																																																																				0.537	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		4	186	0	0	0	1	0	4	186				
SCMH1	22955	broad.mit.edu	37	1	41514481	41514481	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:41514481C>T	ENST00000326197.7	-	10	1456	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E	SCMH1_ENST00000372596.1_Missense_Mutation_p.G325E|SCMH1_ENST00000372597.1_Missense_Mutation_p.G339E|SCMH1_ENST00000397174.2_Missense_Mutation_p.G366E|SCMH1_ENST00000456518.2_Missense_Mutation_p.G228E|SCMH1_ENST00000361191.5_Missense_Mutation_p.G325E|SCMH1_ENST00000361705.3_Missense_Mutation_p.G339E|SCMH1_ENST00000402904.2_Missense_Mutation_p.G386E|SCMH1_ENST00000337495.5_Missense_Mutation_p.G396E|SCMH1_ENST00000372595.1_Missense_Mutation_p.G325E|SCMH1_ENST00000397171.2_Missense_Mutation_p.G325E					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ACGGGCTGGTCCAAAATGGTC	0.507																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(1156-1158)gGa>gAa		sex comb on midleg homolog 1 (Drosophila)							163.0	156.0	158.0					1																	41514481		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41514481C>T	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1157G>A	1.37:g.41514481C>T	ENSP00000318094:p.Gly386Glu					SCMH1_ENST00000456518.2_Missense_Mutation_p.G228E|SCMH1_ENST00000397171.2_Missense_Mutation_p.G325E|SCMH1_ENST00000397174.2_Missense_Mutation_p.G366E|SCMH1_ENST00000372595.1_Missense_Mutation_p.G325E|SCMH1_ENST00000372596.1_Missense_Mutation_p.G325E|SCMH1_ENST00000372597.1_Missense_Mutation_p.G339E|SCMH1_ENST00000361705.3_Missense_Mutation_p.G339E|SCMH1_ENST00000361191.5_Missense_Mutation_p.G325E|SCMH1_ENST00000337495.5_Missense_Mutation_p.G396E|SCMH1_ENST00000326197.7_Missense_Mutation_p.G386E	p.G386E	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			11	1525	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	386						Missense_Mutation	SNP	ENST00000326197.7	37	c.1157G>A	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218937	0.95104	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76877	0.4049	M	0.72479	2.2	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;1.0;1.0;1.0	T	0.76526	-0.2927	10	0.62326	D	0.03	.	19.2231	0.93806	0.0:1.0:0.0:0.0	.	228;396;339;386	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	E	339;228;386;366;325;325;339;325;396;325;386	ENSP00000354996:G339E;ENSP00000403974:G228E;ENSP00000386079:G386E;ENSP00000380359:G366E;ENSP00000380356:G325E;ENSP00000354656:G325E;ENSP00000361678:G339E;ENSP00000361677:G325E;ENSP00000337352:G396E;ENSP00000361676:G325E;ENSP00000318094:G386E	ENSP00000318094:G386E	G	-	2	0	SCMH1	41287068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.468000	0.80943	2.885000	0.99019	0.655000	0.94253	GGA		0.507	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			44	164	0	0	0	1	0	44	164				
GAS2L3	283431	broad.mit.edu	37	12	101017504	101017504	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:101017504G>A	ENST00000539410.1	+	9	1307	c.921G>A	c.(919-921)tcG>tcA	p.S307S	GAS2L3_ENST00000547754.1_Silent_p.S307S|GAS2L3_ENST00000266754.5_Silent_p.S307S|GAS2L3_ENST00000537247.1_Silent_p.S203S			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	307					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TACCTGATTCGCCTGCCAGAA	0.378																																						ENST00000537247.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(607-609)tcG>tcA		growth arrest-specific 2 like 3							50.0	53.0	52.0					12																	101017504		2203	4300	6503	SO:0001819	synonymous_variant	283431				cell cycle arrest			g.chr12:101017504G>A	AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.921G>A	12.37:g.101017504G>A						GAS2L3_ENST00000539410.1_Silent_p.S307S|GAS2L3_ENST00000547754.1_Silent_p.S307S|GAS2L3_ENST00000266754.5_Silent_p.S307S	p.S203S			Q86XJ1	GA2L3_HUMAN			10	1563	+			307					B2RCN2	Silent	SNP	ENST00000539410.1	37	c.609G>A	CCDS9079.1																																																																																				0.378	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942		19	59	0	0	0	1	0	19	59				
PSG7	5676	broad.mit.edu	37	19	43430085	43430085	+	RNA	SNP	C	C	T	rs377390259		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:43430085C>T	ENST00000406070.2	-	0	1179				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATACTGTGCCGGTGGGTTAG	0.463																																						ENST00000406070.2																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)		C	,	4,4398		0,4,2197	165.0	174.0	171.0		717,1083	-2.7	0.0	19		171	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	PSG7	NM_001206650.1,NM_002783.2	,	0,5,6496	TT,TC,CC		0.0116,0.0909,0.0385	,	239/298,361/420	43430085	5,12997	2201	4300	6501			5676				female pregnancy	extracellular region		g.chr19:43430085C>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430085C>T						PSG7_ENST00000446844.3_RNA		NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN			0	1179	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.463	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		61	311	0	0	0	1	0	61	311				
ZNF512B	57473	broad.mit.edu	37	20	62599268	62599268	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:62599268G>A	ENST00000450537.1	-	2	96	c.36C>T	c.(34-36)ctC>ctT	p.L12L	ZNF512B_ENST00000217130.3_Silent_p.L12L|ZNF512B_ENST00000369888.1_Silent_p.L12L			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L12L(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGACCCCGGGAGCCGACGGC	0.597																																						ENST00000450537.1																			1	Substitution - coding silent(1)	p.L12L(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(34-36)ctC>ctT		zinc finger protein 512B							78.0	74.0	75.0					20																	62599268		2203	4300	6503	SO:0001819	synonymous_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62599268G>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.36C>T	20.37:g.62599268G>A						ZNF512B_ENST00000217130.3_Silent_p.L12L|ZNF512B_ENST00000369888.1_Silent_p.L12L	p.L12L			Q96KM6	Z512B_HUMAN			2	96	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		12					Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	c.36C>T	CCDS13548.1																																																																																				0.597	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		56	79	0	0	0	1	0	56	79				
RGS22	26166	broad.mit.edu	37	8	100990290	100990290	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr8:100990290C>A	ENST00000360863.6	-	23	3568	c.3374G>T	c.(3373-3375)gGg>gTg	p.G1125V	RGS22_ENST00000523437.1_Missense_Mutation_p.G1113V|RGS22_ENST00000523287.1_Missense_Mutation_p.G944V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1125	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.G1125V(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAACAGAACCCCAAAAATTGT	0.269																																						ENST00000360863.6																		RGS22/SYCP1(2)	2	Substitution - Missense(2)	p.G1125V(2)	endometrium(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3373-3375)gGg>gTg		regulator of G-protein signaling 22							32.0	29.0	30.0					8																	100990290		1783	4049	5832	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100990290C>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3374G>T	8.37:g.100990290C>A	ENSP00000354109:p.Gly1125Val					RGS22_ENST00000523437.1_Missense_Mutation_p.G1113V|RGS22_ENST00000523287.1_Missense_Mutation_p.G944V	p.G1125V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		23	3568	-			1125			RGS 2.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.3374G>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344542	0.41498	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.01887	4.58;4.58;4.58	5.28	5.28	0.74379	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.086699	0.48286	D	0.000185	T	0.07503	0.0189	L	0.36672	1.1	0.52099	D	0.999944	D;D;D	0.89917	0.994;0.994;1.0	P;P;D	0.77004	0.891;0.891;0.989	T	0.40001	-0.9586	10	0.42905	T	0.14	.	14.8563	0.70341	0.0:0.8137:0.1863:0.0	.	1113;1125;944	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	V	1125;1112;944;1113	ENSP00000354109:G1125V;ENSP00000429382:G944V;ENSP00000428212:G1113V	ENSP00000354109:G1125V	G	-	2	0	RGS22	101059466	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.558000	0.53749	2.460000	0.83146	0.637000	0.83480	GGG		0.269	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		6	19	1	0	8.12818e-05	1	8.20208e-05	6	19				
ZNF792	126375	broad.mit.edu	37	19	35450454	35450454	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:35450454C>T	ENST00000404801.1	-	4	691	c.305G>A	c.(304-306)gGc>gAc	p.G102D	ZNF792_ENST00000605484.1_Missense_Mutation_p.G35D	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TAAGTCCTTGCCCTCTGTTCC	0.498																																					GBM(1;7 183 21053 22581 22847)	ENST00000404801.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(304-306)gGc>gAc		zinc finger protein 792							46.0	45.0	45.0					19																	35450454		2203	4300	6503	SO:0001583	missense	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35450454C>T	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.305G>A	19.37:g.35450454C>T	ENSP00000385099:p.Gly102Asp					ZNF792_ENST00000605484.1_Missense_Mutation_p.G35D	p.G102D	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		4	691	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		102					B4E333|Q495L1|Q495L3|Q8N932	Missense_Mutation	SNP	ENST00000404801.1	37	c.305G>A	CCDS12440.2	.	.	.	.	.	.	.	.	.	.	c	0.045	-1.269312	0.01421	.	.	ENSG00000180884	ENST00000404801	T	0.05199	3.48	3.16	-1.49	0.08718	.	.	.	.	.	T	0.02012	0.0063	N	0.02916	-0.46	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.48115	-0.9063	9	0.10902	T	0.67	.	3.9221	0.09248	0.0:0.3386:0.1918:0.4696	.	102	Q3KQV3	ZN792_HUMAN	D	102	ENSP00000385099:G102D	ENSP00000385099:G102D	G	-	2	0	ZNF792	40142294	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.261000	0.08694	-0.191000	0.10448	0.467000	0.42956	GGC		0.498	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872		15	64	0	0	0	1	0	15	64				
GIMAP5	55340	broad.mit.edu	37	7	150440107	150440107	+	Missense_Mutation	SNP	A	A	G	rs368122062		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:150440107A>G	ENST00000358647.3	+	3	1247	c.880A>G	c.(880-882)Ata>Gta	p.I294V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	294					myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTGTGCAGCATACTTTTTTT	0.378																																						ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(880-882)Ata>Gta		GTPase, IMAP family member 5		A	VAL/ILE,VAL/ILE	0,4406		0,0,2203	52.0	45.0	48.0		1492,880	-0.4	0.0	7		48	1,8599		0,1,4299	no	missense,missense	GIMAP5,GIMAP1-GIMAP5	NM_001199577.1,NM_018384.4	29,29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	498/512,294/308	150440107	1,13005	2203	4300	6503	SO:0001583	missense	55340							g.chr7:150440107A>G	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.880A>G	7.37:g.150440107A>G	ENSP00000351473:p.Ile294Val					GIMAP5_ENST00000479556.1_3'UTR	p.I294V	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1247	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.880A>G	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	A	8.299	0.819563	0.16607	0.0	1.16E-4	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05139	3.49	3.78	-0.433	0.12287	.	1.584200	0.03855	N	0.273073	T	0.04543	0.0124	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41998	-0.9477	10	0.40728	T	0.16	.	0.9422	0.01358	0.1975:0.1147:0.1842:0.5036	.	294	Q96F15	GIMA5_HUMAN	V	294;330	ENSP00000351473:I294V	ENSP00000351473:I294V	I	+	1	0	GIMAP5	150071040	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.316000	0.00515	-0.249000	0.09569	-0.710000	0.03640	ATA		0.378	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		9	50	0	0	0	1	0	9	50				
SLC35F1	222553	broad.mit.edu	37	6	118596639	118596639	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr6:118596639G>A	ENST00000360388.4	+	5	856	c.655G>A	c.(655-657)Ggg>Agg	p.G219R		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	219					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TAAGCTGGTAGGGGACCTTCT	0.448																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(655-657)Ggg>Agg		solute carrier family 35, member F1							78.0	81.0	80.0					6																	118596639		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118596639G>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.655G>A	6.37:g.118596639G>A	ENSP00000353557:p.Gly219Arg						p.G219R	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	5	856	+			219					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.655G>A	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.886504	0.91814	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.17	5.17	0.71159	.	0.112629	0.64402	D	0.000008	D	0.83547	0.5278	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85719	0.1324	9	0.87932	D	0	.	19.2178	0.93785	0.0:0.0:1.0:0.0	.	219	Q5T1Q4	S35F1_HUMAN	R	219	.	ENSP00000353557:G219R	G	+	1	0	SLC35F1	118703332	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.157000	0.94714	2.836000	0.97738	0.655000	0.94253	GGG		0.448	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		14	40	0	0	0	1	0	14	40				
RAG2	5897	broad.mit.edu	37	11	36615501	36615501	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:36615501C>T	ENST00000311485.3	-	2	379	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000534635.1_5'Flank|C11orf74_ENST00000347206.4_5'Flank|RAG2_ENST00000528428.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	73					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGCTGGGTAGCGAAGAGGAGG	0.453									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000311485.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32						c.(217-219)cGc>cAc		recombination activating gene 2							119.0	127.0	124.0					11																	36615501		2202	4298	6500	SO:0001583	missense	5897	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36615501C>T	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.218G>A	11.37:g.36615501C>T	ENSP00000308620:p.Arg73His						p.R73H	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN			2	379	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	73					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.218G>A	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656973	0.88154	.	.	ENSG00000175097	ENST00000311485;ENST00000529083	D;D	0.94376	-1.78;-3.41	5.83	5.83	0.93111	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98212	1.0473	10	0.87932	D	0	-14.0314	20.1195	0.97955	0.0:1.0:0.0:0.0	.	73	P55895	RAG2_HUMAN	H	73	ENSP00000308620:R73H;ENSP00000436327:R73H	ENSP00000308620:R73H	R	-	2	0	RAG2	36572077	1.000000	0.71417	0.985000	0.45067	0.979000	0.70002	5.776000	0.68924	2.759000	0.94783	0.650000	0.86243	CGC		0.453	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		46	86	0	0	0	1	0	46	86				
HEG1	57493	broad.mit.edu	37	3	124728587	124728587	+	Missense_Mutation	SNP	G	G	A	rs200205505		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr3:124728587G>A	ENST00000311127.4	-	8	3222	c.3155C>T	c.(3154-3156)cCg>cTg	p.P1052L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1052	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTACCCAACCGGGCATTTGCA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		20356	0.001		0.0	False		,,,				2504	0.0					ENST00000311127.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						c.(3154-3156)cCg>cTg		heart development protein with EGF-like domains 1							78.0	78.0	78.0					3																	124728587		1901	4121	6022	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124728587G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.3155C>T	3.37:g.124728587G>A	ENSP00000311502:p.Pro1052Leu						p.P1052L	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			8	3222	-			1052			EGF-like 2; calcium-binding (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.3155C>T	CCDS46898.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.68	2.608374	0.46527	.	.	ENSG00000173706	ENST00000311127	D	0.92299	-3.01	4.09	4.09	0.47781	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.38492	U	0.001662	D	0.91666	0.7366	L	0.42245	1.32	0.58432	D	0.999994	D	0.57571	0.98	P	0.56916	0.809	D	0.88174	0.2866	10	0.14252	T	0.57	.	14.6359	0.68689	0.0:0.0:1.0:0.0	.	1052	Q9ULI3	HEG1_HUMAN	L	1052	ENSP00000311502:P1052L	ENSP00000311502:P1052L	P	-	2	0	HEG1	126211277	1.000000	0.71417	0.991000	0.47740	0.975000	0.68041	5.489000	0.66875	2.593000	0.87608	0.655000	0.94253	CCG		0.428	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		12	29	0	0	0	1	0	12	29				
NAA11	84779	broad.mit.edu	37	4	80246587	80246587	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr4:80246587G>A	ENST00000286794.4	-	1	617	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	149	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)	p.R149W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GAGAGATCCCGCTTCATAGCA	0.527																																						ENST00000286794.4																			1	Substitution - Missense(1)	p.R149W(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						c.(445-447)Cgg>Tgg		N(alpha)-acetyltransferase 11, NatA catalytic subunit							67.0	68.0	68.0					4																	80246587		2034	4223	6257	SO:0001583	missense	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246587G>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.445C>T	4.37:g.80246587G>A	ENSP00000286794:p.Arg149Trp					NAA11_ENST00000513733.1_5'UTR	p.R149W	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN			1	617	-			149			N-acetyltransferase.		Q66K19|Q6P479	Missense_Mutation	SNP	ENST00000286794.4	37	c.445C>T	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288862	0.59976	.	.	ENSG00000156269	ENST00000286794	T	0.55760	0.5	5.17	4.33	0.51752	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	T	0.73329	0.3573	M	0.91090	3.175	0.80722	D	1	D	0.69078	0.997	P	0.58266	0.836	T	0.80464	-0.1371	10	0.66056	D	0.02	-15.6902	13.2559	0.60079	0.0:0.0:0.8403:0.1597	.	149	Q9BSU3	NAA11_HUMAN	W	149	ENSP00000286794:R149W	ENSP00000286794:R149W	R	-	1	2	NAA11	80465611	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	2.682000	0.46934	1.541000	0.49316	0.655000	0.94253	CGG		0.527	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1			15	48	0	0	0	1	0	15	48				
LGALS12	85329	broad.mit.edu	37	11	63277960	63277960	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:63277960A>G	ENST00000394618.3	+	5	875	c.584A>G	c.(583-585)tAc>tGc	p.Y195C	LGALS12_ENST00000340246.5_Missense_Mutation_p.Y196C|LGALS12_ENST00000255684.5_Missense_Mutation_p.Y195C|LGALS12_ENST00000415491.2_Missense_Mutation_p.Y134C|LGALS12_ENST00000425950.2_Missense_Mutation_p.Y134C	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	195					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						AGCAGAGAGTACCCAGCTGGA	0.557																																						ENST00000415491.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						c.(400-402)tAc>tGc		lectin, galactoside-binding, soluble, 12							115.0	92.0	100.0					11																	63277960		2201	4298	6499	SO:0001583	missense	85329				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	g.chr11:63277960A>G	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.584A>G	11.37:g.63277960A>G	ENSP00000378116:p.Tyr195Cys					LGALS12_ENST00000255684.5_Missense_Mutation_p.Y195C|LGALS12_ENST00000340246.5_Missense_Mutation_p.Y196C|LGALS12_ENST00000394618.3_Missense_Mutation_p.Y195C|LGALS12_ENST00000425950.2_Missense_Mutation_p.Y134C	p.Y134C	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN			4	1015	+			195			Galectin 1.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000394618.3	37	c.401A>G	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275780	0.59649	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.09630	3.23;3.45;3.46;3.14;2.96	5.5	5.5	0.81552	.	0.000000	0.52532	D	0.000065	T	0.24586	0.0596	M	0.73217	2.22	0.47862	D	0.999537	D;D;D;D	0.69078	0.997;0.996;0.993;0.994	P;P;P;P	0.56514	0.781;0.8;0.724;0.707	T	0.01033	-1.1474	10	0.37606	T	0.19	-1.8425	11.9994	0.53222	1.0:0.0:0.0:0.0	.	155;196;195;195	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	C	195;195;196;134;134	ENSP00000255684:Y195C;ENSP00000378116:Y195C;ENSP00000339374:Y196C;ENSP00000394659:Y134C;ENSP00000399093:Y134C	ENSP00000255684:Y195C	Y	+	2	0	LGALS12	63034536	0.992000	0.36948	0.997000	0.53966	0.800000	0.45204	3.941000	0.56607	2.089000	0.63090	0.418000	0.28097	TAC		0.557	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101		11	66	0	0	0	1	0	11	66				
NOS1	4842	broad.mit.edu	37	12	117768559	117768559	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:117768559G>A	ENST00000338101.4	-	1	320	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000344089.3_Missense_Mutation_p.H106Y|NOS1_ENST00000317775.6_Missense_Mutation_p.H106Y			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GTCTCCAGGTGCGTGGTGAAA	0.622																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(316-318)Cac>Tac		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						38.0	43.0	42.0					12																	117768559		1969	4128	6097	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768559G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.316C>T	12.37:g.117768559G>A	ENSP00000337459:p.His106Tyr					NOS1_ENST00000338101.4_Missense_Mutation_p.H106Y|NOS1_ENST00000344089.3_Missense_Mutation_p.H106Y	p.H106Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	1001	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		106			Interaction with NOSIP (By similarity).			Missense_Mutation	SNP	ENST00000338101.4	37	c.316C>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120921	0.56613	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.06687	4.92;3.27;4.9	4.91	4.91	0.64330	PDZ/DHR/GLGF (1);	0.046134	0.85682	D	0.000000	T	0.17492	0.0420	M	0.72894	2.215	0.80722	D	1	P	0.42871	0.792	P	0.45577	0.486	T	0.01945	-1.1242	10	0.29301	T	0.29	-40.059	18.2976	0.90151	0.0:0.0:1.0:0.0	.	106	P29475	NOS1_HUMAN	Y	106	ENSP00000320758:H106Y;ENSP00000339862:H106Y;ENSP00000337459:H106Y	ENSP00000320758:H106Y	H	-	1	0	NOS1	116252942	1.000000	0.71417	0.985000	0.45067	0.645000	0.38454	9.232000	0.95325	2.550000	0.86006	0.555000	0.69702	CAC		0.622	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			15	44	0	0	0	1	0	15	44				
MUC5B	727897	broad.mit.edu	37	11	1266021	1266021	+	Silent	SNP	C	C	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:1266021C>A	ENST00000529681.1	+	31	7969	c.7911C>A	c.(7909-7911)acC>acA	p.T2637T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T2640T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2637	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAGCACAACCACCACACCCA	0.632																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7918-7920)acC>acA		mucin 5B, oligomeric mucus/gel-forming							148.0	179.0	169.0					11																	1266021		2118	4232	6350	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266021C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7911C>A	11.37:g.1266021C>A						RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2637T	p.T2640T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	7978	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2637	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.7920C>A	CCDS44515.2																																																																																				0.632	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		51	87	1	0	1.86277e-20	1	2.06767e-20	51	87				
GABRE	2564	broad.mit.edu	37	X	151129820	151129820	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:151129820C>G	ENST00000370328.3	-	5	634	c.581G>C	c.(580-582)gGa>gCa	p.G194A	GABRE_ENST00000393914.3_Intron|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000370325.1_Missense_Mutation_p.G194A|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	194					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAGTGAGCATCCGGCATCAAT	0.507																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(580-582)gGa>gCa		gamma-aminobutyric acid (GABA) A receptor, epsilon							124.0	112.0	116.0					X																	151129820		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151129820C>G	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.581G>C	X.37:g.151129820C>G	ENSP00000359353:p.Gly194Ala					GABRE_ENST00000393914.3_Intron|GABRE_ENST00000370328.3_Missense_Mutation_p.G194A	p.G194A			P78334	GBRE_HUMAN			5	634	-	Acute lymphoblastic leukemia(192;6.56e-05)		194					E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.581G>C	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090287	0.55968	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.77620	-1.11;-1.11	5.6	4.63	0.57726	Neurotransmitter-gated ion-channel ligand-binding (3);	0.139500	0.32401	N	0.006150	T	0.61223	0.2330	N	0.04132	-0.27	0.80722	D	1	D	0.56746	0.977	P	0.57283	0.817	T	0.64249	-0.6452	10	0.06757	T	0.87	.	4.3508	0.11155	0.0:0.711:0.0:0.289	.	194	P78334	GBRE_HUMAN	A	194	ENSP00000359353:G194A;ENSP00000359350:G194A	ENSP00000359350:G194A	G	-	2	0	GABRE	150880476	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	3.729000	0.54999	2.348000	0.79779	0.600000	0.82982	GGA		0.507	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		29	121	0	0	0	1	0	29	121				
CHST12	55501	broad.mit.edu	37	7	2472569	2472569	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:2472569G>T	ENST00000258711.6	+	2	430	c.295G>T	c.(295-297)Gag>Tag	p.E99*		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	99					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GAGCATGGAGGAGAGCGTGAG	0.682																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(295-297)Gag>Tag		carbohydrate (chondroitin 4) sulfotransferase 12							26.0	33.0	31.0					7																	2472569		2202	4297	6499	SO:0001587	stop_gained	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472569G>T	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.295G>T	7.37:g.2472569G>T	ENSP00000258711:p.Glu99*						p.E99*	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	430	+		Ovarian(82;0.0253)	99					A4D1Z9|Q502W3|Q9NXY7	Nonsense_Mutation	SNP	ENST00000258711.6	37	c.295G>T	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693105	0.88735	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	.	.	.	4.98	4.98	0.66077	.	0.228496	0.31268	U	0.007945	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-9.2521	18.2378	0.89956	0.0:0.0:1.0:0.0	.	.	.	.	X	99	.	ENSP00000258711:E99X	E	+	1	0	CHST12	2439095	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.477000	0.73591	2.304000	0.77564	0.561000	0.74099	GAG		0.682	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		29	121	1	0	1.1904e-30	1	1.3347e-30	29	121				
PCLO	27445	broad.mit.edu	37	7	82544172	82544172	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:82544172G>T	ENST00000333891.9	-	7	13467	c.13130C>A	c.(13129-13131)gCa>gAa	p.A4377E	PCLO_ENST00000423517.2_Missense_Mutation_p.A4377E|PCLO_ENST00000437081.1_Missense_Mutation_p.A1097E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGTCCAGCTGCAGCCCTGGC	0.507																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(13129-13131)gCa>gAa		piccolo presynaptic cytomatrix protein							75.0	79.0	78.0					7																	82544172		1987	4165	6152	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544172G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13130C>A	7.37:g.82544172G>T	ENSP00000334319:p.Ala4377Glu					PCLO_ENST00000333891.8_Missense_Mutation_p.A4377E|PCLO_ENST00000437081.1_Missense_Mutation_p.A1097E	p.A4377E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	13467	-			4308						Missense_Mutation	SNP	ENST00000333891.9	37	c.13130C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998875	0.74818	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.20598	2.06;2.07	5.75	5.75	0.90469	.	.	.	.	.	T	0.46483	0.1395	M	0.61703	1.905	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	P;D;D	0.69479	0.895;0.964;0.964	T	0.34601	-0.9822	9	0.87932	D	0	.	19.9522	0.97203	0.0:0.0:1.0:0.0	.	4308;4377;4377	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	E	4377;4377;1097	ENSP00000334319:A4377E;ENSP00000388393:A4377E	ENSP00000334319:A4377E	A	-	2	0	PCLO	82382108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.725000	0.93324	0.655000	0.94253	GCA		0.507	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		14	68	1	0	3.27435e-08	1	3.49474e-08	14	68				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		46	26	0	0	0	1	0	46	26				
MTOR	2475	broad.mit.edu	37	1	11288886	11288886	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:11288886G>A	ENST00000361445.4	-	19	2945	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RNU6-291P_ENST00000384720.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	957					cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CGGAAGATCCGCATCAGGGCC	0.502																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(2869-2871)Cgg>Tgg		mechanistic target of rapamycin (serine/threonine kinase)							171.0	134.0	146.0					1																	11288886		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11288886G>A	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.2869C>T	1.37:g.11288886G>A	ENSP00000354558:p.Arg957Trp						p.R957W	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			19	2945	-			957					Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.2869C>T	CCDS127.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970534	0.74246	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.66815	-0.23	5.49	4.5	0.54988	Domain of unknown function DUF3385,  target of rapamycin protein (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82135	0.4971	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84776	0.0770	10	0.87932	D	0	-9.9124	13.0292	0.58833	0.0:0.0:0.7225:0.2775	.	957	P42345	MTOR_HUMAN	W	957	ENSP00000354558:R957W	ENSP00000354558:R957W	R	-	1	2	MTOR	11211473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.485000	0.45250	2.584000	0.87258	0.591000	0.81541	CGG		0.502	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		4	135	0	0	0	1	0	4	135				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	65	0	0	0	1	0	4	65				
TARS2	80222	broad.mit.edu	37	1	150460440	150460440	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:150460440C>G	ENST00000369064.3	+	2	207	c.173C>G	c.(172-174)cCc>cGc	p.P58R	TARS2_ENST00000438568.2_Missense_Mutation_p.P58R|TARS2_ENST00000606933.1_Missense_Mutation_p.P58R|TARS2_ENST00000369054.2_Missense_Mutation_p.P58R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	58					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CAGAAGGAACCCCGGACTATT	0.547																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(172-174)cCc>cGc		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						68.0	67.0	67.0					1																	150460440		2203	4300	6503	SO:0001583	missense	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150460440C>G	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.173C>G	1.37:g.150460440C>G	ENSP00000358060:p.Pro58Arg					TARS2_ENST00000438568.2_Missense_Mutation_p.P58R|TARS2_ENST00000606933.1_Missense_Mutation_p.P58R|TARS2_ENST00000369054.2_Missense_Mutation_p.P58R	p.P58R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		2	207	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		58					Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	ENST00000369064.3	37	c.173C>G	CCDS952.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260009	0.23051	.	.	ENSG00000143374	ENST00000438568;ENST00000369054;ENST00000369064;ENST00000369053	.	.	.	5.21	-2.14	0.07123	.	1.734680	0.02500	N	0.090404	T	0.04634	0.0126	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.17228	-1.0376	9	0.09590	T	0.72	-9.9373	8.5982	0.33729	0.1896:0.3079:0.5025:0.0	.	58;58	Q9H9V2;Q9BW92	.;SYTM_HUMAN	R	58	.	ENSP00000358049:P58R	P	+	2	0	TARS2	148727064	0.000000	0.05858	0.000000	0.03702	0.991000	0.79684	0.062000	0.14389	-0.497000	0.06641	0.561000	0.74099	CCC		0.547	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		19	60	0	0	0	1	0	19	60				
LRP1B	53353	broad.mit.edu	37	2	141665476	141665476	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:141665476G>A	ENST00000389484.3	-	22	4461	c.3490C>T	c.(3490-3492)Cct>Tct	p.P1164S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1164	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAGCCATCAGGACAATCCTTT	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3490-3492)Cct>Tct		low density lipoprotein receptor-related protein 1B							189.0	190.0	190.0					2																	141665476		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141665476G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3490C>T	2.37:g.141665476G>A	ENSP00000374135:p.Pro1164Ser	TSP Lung(27;0.18)					p.P1164S	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	22	4461	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1164			LDL-receptor class A 10.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3490C>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737321	0.30774	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95171	-2.39;-3.63	5.58	3.76	0.43208	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.234217	0.36034	N	0.002830	D	0.89801	0.6820	L	0.37466	1.105	0.37500	D	0.916713	B;B	0.21452	0.056;0.0	B;B	0.29077	0.098;0.001	D	0.84823	0.0797	10	0.10636	T	0.68	.	11.6793	0.51448	0.0677:0.1233:0.809:0.0	.	347;1164	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	S	1164;1102;309	ENSP00000374135:P1164S;ENSP00000413239:P309S	ENSP00000374135:P1164S	P	-	1	0	LRP1B	141381946	1.000000	0.71417	0.916000	0.36221	0.982000	0.71751	2.889000	0.48601	1.368000	0.46115	-0.234000	0.12200	CCT		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		40	173	0	0	0	1	0	40	173				
USP9X	8239	broad.mit.edu	37	X	41088843	41088843	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chrX:41088843G>A	ENST00000324545.8	+	43	7875	c.7242G>A	c.(7240-7242)aaG>aaA	p.K2414K	USP9X_ENST00000378308.2_Silent_p.K2414K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2414					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTAAAAGAAAGTGGACCTGGG	0.393																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(7240-7242)aaG>aaA		ubiquitin specific peptidase 9, X-linked							70.0	71.0	71.0					X																	41088843		2187	4292	6479	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41088843G>A	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7242G>A	X.37:g.41088843G>A						USP9X_ENST00000378308.2_Silent_p.K2414K	p.K2414K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			43	7875	+			2414					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.7242G>A	CCDS43930.1																																																																																				0.393	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		14	53	0	0	0	1	0	14	53				
VPS13D	55187	broad.mit.edu	37	1	12409370	12409370	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:12409370G>A	ENST00000358136.3	+	46	9500	c.9370G>A	c.(9370-9372)Gaa>Aaa	p.E3124K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E3099K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGACTGCAGAAATTAGTAG	0.458																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(9370-9372)Gaa>Aaa		vacuolar protein sorting 13 homolog D (S. cerevisiae)							105.0	109.0	107.0					1																	12409370		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12409370G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9370G>A	1.37:g.12409370G>A	ENSP00000350854:p.Glu3124Lys					VPS13D_ENST00000356315.4_Missense_Mutation_p.E3099K	p.E3124K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	46	9500	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3123						Missense_Mutation	SNP	ENST00000358136.3	37	c.9370G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872245	0.91587	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.54866	0.57;0.55	5.58	5.58	0.84498	.	0.048007	0.85682	D	0.000000	T	0.65657	0.2712	L	0.58101	1.795	0.80722	D	1	D;D	0.58268	0.982;0.969	P;P	0.61800	0.894;0.585	T	0.56583	-0.7955	10	0.10902	T	0.67	.	19.9313	0.97120	0.0:0.0:1.0:0.0	.	3099;3123	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	3099;3124	ENSP00000348666:E3099K;ENSP00000350854:E3124K	ENSP00000348666:E3099K	E	+	1	0	VPS13D	12331957	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	9.378000	0.97191	2.778000	0.95560	0.655000	0.94253	GAA		0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		28	143	0	0	0	1	0	28	143				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000567960.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																197331							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000564451.1_RNA								0	638	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	63	0	0	0	1	0	7	63				
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:43411250G>A	ENST00000292125.2	-	5	1108	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000187910.2_Missense_Mutation_p.A355V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	355	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1063-1065)gCg>gTg		pregnancy specific beta-1-glycoprotein 6							185.0	196.0	192.0					19																	43411250		2201	4299	6500	SO:0001583	missense	5675							g.chr19:43411250G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1064C>T	19.37:g.43411250G>A	ENSP00000292125:p.Ala355Val					PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	p.A355V	NM_001031850.3	NP_001027020.1					5	1129	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.1064C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG		0.448	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		5	453	0	0	0	1	0	5	453				
ACSS3	79611	broad.mit.edu	37	12	81528729	81528729	+	Silent	SNP	C	C	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:81528729C>G	ENST00000548058.1	+	3	1501	c.591C>G	c.(589-591)ctC>ctG	p.L197L	ACSS3_ENST00000261206.3_Silent_p.L196L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	197						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TCCACAGTCTCATATTTGGAG	0.403																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(589-591)ctC>ctG		acyl-CoA synthetase short-chain family member 3							177.0	147.0	157.0					12																	81528729		2203	4300	6503	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81528729C>G		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.591C>G	12.37:g.81528729C>G						ACSS3_ENST00000261206.3_Silent_p.L196L	p.L197L			Q9H6R3	ACSS3_HUMAN			3	1501	+			197					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.591C>G	CCDS9022.1																																																																																				0.403	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		13	36	0	0	0	1	0	13	36				
PRAMEF11	440560	broad.mit.edu	37	1	12887326	12887326	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:12887326T>C	ENST00000535591.1	-	3	726	c.531A>G	c.(529-531)atA>atG	p.I177M		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	177					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGATGGGCAGTATCCACTTGC	0.488																																						ENST00000535591.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(529-531)atA>atG		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887326T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.531A>G	1.37:g.12887326T>C	ENSP00000439551:p.Ile177Met						p.I177M	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	726	-			177						Missense_Mutation	SNP	ENST00000535591.1	37	c.531A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	4.549	0.102033	0.08731	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.01234	5.13;5.13	1.48	-2.96	0.05547	.	1.979650	0.02449	N	0.085360	T	0.01454	0.0047	N	0.22421	0.69	0.09310	N	1	B	0.28055	0.199	B	0.33521	0.165	T	0.41502	-0.9505	10	0.44086	T	0.13	.	2.6948	0.05132	0.4157:0.3297:0.0:0.2547	.	177	O60813	PRA11_HUMAN	M	177;218;177	ENSP00000439551:I177M;ENSP00000391839:I177M	ENSP00000328783:I218M	I	-	3	3	PRAMEF11	12809913	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.856000	0.00729	-1.827000	0.01204	0.329000	0.21502	ATA		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		111	486	0	0	0	1	0	111	486				
CD300E	342510	broad.mit.edu	37	17	72613477	72613477	+	Silent	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:72613477C>T	ENST00000328630.3	-	2	208	c.168G>A	c.(166-168)acG>acA	p.T56T	CD300E_ENST00000392619.1_Silent_p.T83T|CD300E_ENST00000426295.2_Silent_p.T97T			Q496F6	CLM2_HUMAN	CD300e molecule	56	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						TCTCACATGACGTGTCGTACT	0.552																																						ENST00000392619.1																			0				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(247-249)acG>acA		CD300e molecule							226.0	143.0	171.0					17																	72613477		2203	4300	6503	SO:0001819	synonymous_variant	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72613477C>T	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.168G>A	17.37:g.72613477C>T						CD300E_ENST00000328630.3_Silent_p.T56T|CD300E_ENST00000426295.2_Silent_p.T97T	p.T83T	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN			2	284	-			56			Ig-like V-type.		B4DNS1|Q7Z7I3	Silent	SNP	ENST00000328630.3	37	c.249G>A	CCDS11702.1																																																																																				0.552	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		19	80	0	0	0	1	0	19	80				
FAM196A	642938	broad.mit.edu	37	10	128973711	128973711	+	Missense_Mutation	SNP	C	C	T	rs143223796		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr10:128973711C>T	ENST00000522781.1	-	4	1504	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.E317K	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	317										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCACTACATTCGGGGGACAGG	0.647																																						ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(949-951)Gaa>Aaa		family with sequence similarity 196, member A		C	LYS/GLU,	1,4405	2.1+/-5.4	0,1,2202	55.0	59.0	58.0		949,	4.1	0.5	10	dbSNP_134	58	0,8598		0,0,4299	no	missense,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	56,	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,	317/480,	128973711	1,13003	2203	4299	6502	SO:0001583	missense	642938							g.chr10:128973711C>T		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.949G>A	10.37:g.128973711C>T	ENSP00000429763:p.Glu317Lys					DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.E317K	p.E317K	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1504	-			317					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.949G>A	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496653	0.44352	2.27E-4	0.0	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.42513	0.97;0.97	5.08	4.14	0.48551	.	0.315368	0.34156	N	0.004218	T	0.43456	0.1248	M	0.71581	2.175	0.43503	D	0.995759	P;P	0.52170	0.883;0.951	B;B	0.41946	0.285;0.371	T	0.50372	-0.8836	10	0.59425	D	0.04	.	12.4066	0.55443	0.0:0.9132:0.0:0.0868	.	317;317	B7ZME7;Q6ZSG2	.;F196A_HUMAN	K	317	ENSP00000429763:E317K;ENSP00000428730:E317K	ENSP00000428730:E317K	E	-	1	0	FAM196A	128863701	0.281000	0.24258	0.460000	0.27093	0.088000	0.18126	0.890000	0.28295	1.195000	0.43115	0.563000	0.77884	GAA		0.647	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		24	69	0	0	0	1	0	24	69				
OR2Z1	284383	broad.mit.edu	37	19	8841485	8841485	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:8841485C>A	ENST00000324060.2	+	1	170	c.95C>A	c.(94-96)gCt>gAt	p.A32D		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCTGGTGGCTGTCATGTTT	0.542																																						ENST00000324060.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(94-96)gCt>gAt		olfactory receptor, family 2, subfamily Z, member 1							121.0	104.0	110.0					19																	8841485		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841485C>A	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.95C>A	19.37:g.8841485C>A	ENSP00000316284:p.Ala32Asp						p.A32D	NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN			1	170	+			32					B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.95C>A	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111652	0.37242	.	.	ENSG00000181733	ENST00000324060	T	0.00438	7.42	4.33	0.811	0.18739	.	0.833163	0.10514	N	0.665756	T	0.00356	0.0011	L	0.49126	1.545	0.09310	N	1	P	0.43973	0.823	B	0.43867	0.434	T	0.48747	-0.9008	10	0.66056	D	0.02	.	3.1973	0.06637	0.0:0.4662:0.2121:0.3217	.	32	Q8NG97	OR2Z1_HUMAN	D	32	ENSP00000316284:A32D	ENSP00000316284:A32D	A	+	2	0	OR2Z1	8702485	0.000000	0.05858	0.814000	0.32528	0.039000	0.13416	0.543000	0.23237	0.991000	0.38814	0.543000	0.68304	GCT		0.542	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			20	77	1	0	3.51602e-12	1	3.78911e-12	20	77				
SLFN13	146857	broad.mit.edu	37	17	33771991	33771991	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:33771991A>C	ENST00000285013.6	-	3	984	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	SLFN13_ENST00000526861.1_Missense_Mutation_p.F237V|SLFN13_ENST00000542635.1_Missense_Mutation_p.F237V|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.F237V|SLFN13_ENST00000360502.2_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	237						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTGTTTGCAAATGCAGAGATG	0.388																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(709-711)Ttt>Gtt		schlafen family member 13							113.0	118.0	116.0					17																	33771991		2203	4300	6503	SO:0001583	missense	146857					intracellular	ATP binding	g.chr17:33771991A>C	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.709T>G	17.37:g.33771991A>C	ENSP00000285013:p.Phe237Val					SLFN13_ENST00000542635.1_Missense_Mutation_p.F237V|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.F237V|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000526861.1_Missense_Mutation_p.F237V	p.F237V	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	984	-			237					E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	37	c.709T>G	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	A	11.94	1.789192	0.31685	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635	T;T;T	0.51325	0.71;0.71;0.71	3.39	2.3	0.28687	.	0.000000	0.39759	N	0.001269	T	0.72407	0.3456	H	0.96239	3.79	0.30844	N	0.735338	D	0.62365	0.991	D	0.74023	0.982	T	0.71411	-0.4601	10	0.87932	D	0	.	5.2265	0.15397	0.8595:0.0:0.1405:0.0	.	237	Q68D06	SLN13_HUMAN	V	237	ENSP00000285013:F237V;ENSP00000434439:F237V;ENSP00000444016:F237V	ENSP00000285013:F237V	F	-	1	0	SLFN13	30796104	1.000000	0.71417	0.966000	0.40874	0.078000	0.17371	4.128000	0.57951	0.488000	0.27723	0.421000	0.28195	TTT		0.388	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		28	116	0	0	0	1	0	28	116				
PPARGC1A	10891	broad.mit.edu	37	4	23803958	23803958	+	Missense_Mutation	SNP	C	C	T	rs539338812		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr4:23803958C>T	ENST00000264867.2	-	11	2149	c.2030G>A	c.(2029-2031)cGt>cAt	p.R677H	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	677	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATAAATCACACGGCGCTCTTC	0.507													c|||	1	0.000199681	0.0	0.0	5008	,	,		16842	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(2029-2031)cGt>cAt		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							95.0	94.0	94.0					4																	23803958		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23803958C>T	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.2030G>A	4.37:g.23803958C>T	ENSP00000264867:p.Arg677His					PPARGC1A_ENST00000509702.1_5'UTR	p.R677H	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			11	2149	-		Breast(46;0.0503)	677			RRM.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.2030G>A	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	c	18.55	3.647442	0.67358	.	.	ENSG00000109819	ENST00000264867	T	0.46063	0.88	5.16	5.16	0.70880	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.74107	0.3673	M	0.94063	3.49	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.81024	-0.1120	10	0.59425	D	0.04	-4.9562	19.0215	0.92917	0.0:1.0:0.0:0.0	.	677	Q9UBK2	PRGC1_HUMAN	H	677	ENSP00000264867:R677H	ENSP00000264867:R677H	R	-	2	0	PPARGC1A	23413056	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.443000	0.80521	2.582000	0.87167	0.457000	0.33378	CGT		0.507	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		23	84	0	0	0	1	0	23	84				
VASH1	22846	broad.mit.edu	37	14	77236375	77236375	+	Missense_Mutation	SNP	C	C	T	rs376902185		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr14:77236375C>T	ENST00000167106.4	+	2	1012	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	VASH1_ENST00000554237.1_Missense_Mutation_p.R127C|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	127					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGCTGTGCAGCGCTACATCAG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		18741	0.001		0.0	False		,,,				2504	0.0					ENST00000167106.4																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10						c.(379-381)Cgc>Tgc		vasohibin 1		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	104.0	108.0		379	4.0	1.0	14		108	0,8600		0,0,4300	no	missense	VASH1	NM_014909.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	127/366	77236375	1,13005	2203	4300	6503	SO:0001583	missense	22846				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		g.chr14:77236375C>T	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.379C>T	14.37:g.77236375C>T	ENSP00000167106:p.Arg127Cys					VASH1_ENST00000554237.1_Missense_Mutation_p.R127C|VASH1_ENST00000556038.1_3'UTR	p.R127C	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	2	1012	+			127					Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	ENST00000167106.4	37	c.379C>T	CCDS9851.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312476	0.81358	2.27E-4	0.0	ENSG00000071246	ENST00000167106;ENST00000554237	.	.	.	4.92	4.0	0.46444	.	0.049208	0.85682	D	0.000000	T	0.68247	0.2980	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.63703	0.736;0.917	T	0.71454	-0.4588	9	0.66056	D	0.02	-19.3211	14.5608	0.68133	0.1475:0.8525:0.0:0.0	.	127;127	Q7L8A9;Q7L8A9-2	VASH1_HUMAN;.	C	127	.	ENSP00000167106:R127C	R	+	1	0	VASH1	76306128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.344000	0.72991	1.139000	0.42245	0.655000	0.94253	CGC		0.592	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909		24	86	0	0	0	1	0	24	86				
AGAP2	116986	broad.mit.edu	37	12	58124354	58124354	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:58124354G>A	ENST00000547588.1	-	12	2351	c.2352C>T	c.(2350-2352)tcC>tcT	p.S784S	AGAP2_ENST00000257897.3_Silent_p.S448S	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	784	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GTGGCTGCAGGGAACTGGGGC	0.572																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(1342-1344)tcC>tcT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							169.0	168.0	168.0					12																	58124354		2203	4300	6503	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58124354G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.2352C>T	12.37:g.58124354G>A						AGAP2_ENST00000547588.1_Silent_p.S784S	p.S448S	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			12	1429	-			784			G domain.		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.1344C>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	8.334	0.827272	0.16749	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.53	3.64	0.41730	.	.	.	.	.	T	0.55417	0.1919	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51631	-0.8681	4	.	.	.	.	6.3549	0.21397	0.0999:0.1866:0.7135:0.0	.	.	.	.	S	648	.	.	P	-	1	0	AGAP2	56410621	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.515000	0.22801	1.277000	0.44412	0.561000	0.74099	CCT		0.572	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		37	144	0	0	0	1	0	37	144				
KIAA1549	57670	broad.mit.edu	37	7	138604075	138604075	+	Silent	SNP	G	G	A	rs148061561		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:138604075G>A	ENST00000422774.1	-	2	345	c.297C>T	c.(295-297)ccC>ccT	p.P99P	KIAA1549_ENST00000440172.1_Silent_p.P99P|KIAA1549_ENST00000242365.4_Silent_p.P49P			Q9HCM3	K1549_HUMAN	KIAA1549	99						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCTGGGAGCCGGGAGCAGTTT	0.517			O	BRAF	pilocytic astrocytoma								G|||	0	0.0	0.0	0.0	5008	,	,		17912	0.0		0.0	False		,,,				2504	0.0				NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(295-297)ccC>ccT		KIAA1549		G	,	1,4037		0,1,2018	75.0	79.0	77.0		297,297	-4.1	0.0	7	dbSNP_134	77	0,8352		0,0,4176	no	coding-synonymous,coding-synonymous	KIAA1549	NM_001164665.1,NM_020910.2	,	0,1,6194	AA,AG,GG		0.0,0.0248,0.0081	,	99/1951,99/1935	138604075	1,12389	2019	4176	6195	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138604075G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.297C>T	7.37:g.138604075G>A						KIAA1549_ENST00000422774.1_Silent_p.P99P|KIAA1549_ENST00000242365.4_Silent_p.P49P	p.P99P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			2	345	-			99					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.297C>T	CCDS56513.1																																																																																				0.517	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			4	104	0	0	0	1	0	4	104				
TMEFF2	23671	broad.mit.edu	37	2	193044385	193044385	+	Intron	SNP	A	A	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:193044385A>G	ENST00000272771.5	-	4	1624				TMEFF2_ENST00000392314.1_Intron|TMEFF2_ENST00000409056.3_Missense_Mutation_p.C150R	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GTAAAAAGGCAACTCCTACCT	0.299																																					Pancreas(50;1277 1381 28487 47072)	ENST00000409056.3																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(448-450)Tgc>Cgc		transmembrane protein with EGF-like and two follistatin-like domains 2							67.0	72.0	71.0					2																	193044385		2203	4294	6497	SO:0001627	intron_variant	23671					extracellular region|integral to membrane		g.chr2:193044385A>G	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.439+8T>C	2.37:g.193044385A>G						TMEFF2_ENST00000392314.1_Intron|TMEFF2_ENST00000272771.5_Intron	p.C150R			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		4	447	-			0					Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	c.448T>C	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.784059	0.49891	.	.	ENSG00000144339	ENST00000409056	T	0.74842	-0.88	4.36	0.337	0.15966	.	.	.	.	.	T	0.56046	0.1959	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.17433	0.018	T	0.45498	-0.9257	8	0.46703	T	0.11	.	0.9885	0.01451	0.3249:0.3313:0.1931:0.1508	.	150	Q9UIK5-3	.	R	150	ENSP00000386871:C150R	ENSP00000386871:C150R	C	-	1	0	TMEFF2	192752630	0.000000	0.05858	0.000000	0.03702	0.458000	0.32498	0.666000	0.25097	-0.022000	0.13986	0.482000	0.46254	TGC		0.299	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		12	30	0	0	0	1	0	12	30				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																197331							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		9	62	0	0	0	1	0	9	62				
RECK	8434	broad.mit.edu	37	9	36121659	36121659	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr9:36121659G>A	ENST00000377966.3	+	20	3234	c.2668G>A	c.(2668-2670)Gtc>Atc	p.V890I		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	890					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GATCATTCCCGTCGATCACTA	0.458																																						ENST00000377966.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32						c.(2668-2670)Gtc>Atc		reversion-inducing-cysteine-rich protein with kazal motifs							206.0	176.0	186.0					9																	36121659		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36121659G>A	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2668G>A	9.37:g.36121659G>A	ENSP00000367202:p.Val890Ile						p.V890I	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		20	3234	+			890					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.2668G>A	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	G	35	5.520498	0.96416	.	.	ENSG00000122707	ENST00000377966	T	0.45276	0.9	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	L	0.42686	1.345	0.53005	D	0.999964	D;D	0.65815	0.995;0.995	P;P	0.52031	0.688;0.688	T	0.49082	-0.8976	10	0.66056	D	0.02	-15.9532	17.2407	0.87013	0.0:0.0:1.0:0.0	.	890;890	A8K9D8;O95980	.;RECK_HUMAN	I	890	ENSP00000367202:V890I	ENSP00000367202:V890I	V	+	1	0	RECK	36111659	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.652000	0.83633	2.658000	0.90341	0.655000	0.94253	GTC		0.458	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			33	132	0	0	0	1	0	33	132				
PCDHA9	9752	broad.mit.edu	37	5	140229463	140229463	+	Silent	SNP	G	G	A	rs558218817		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr5:140229463G>A	ENST00000532602.1	+	1	2416	c.1383G>A	c.(1381-1383)acG>acA	p.T461T	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.T461T|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	461	Cadherin 5. {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(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGTACACGGTGTTCGTGA	0.667													.|||	1	0.000199681	0.0	0.0	5008	,	,		16455	0.001		0.0	False		,,,				2504	0.0				Melanoma(55;1800 1972 14909)	ENST00000378122.3																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(1381-1383)acG>acA									77.0	74.0	75.0					5																	140229463		2196	4268	6464	SO:0001819	synonymous_variant	9752							g.chr5:140229463G>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1383G>A	5.37:g.140229463G>A						PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.T461T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	p.T461T	NM_014005.3	NP_054724.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2107	+								O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	c.1383G>A	CCDS54920.1																																																																																				0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		42	139	0	0	0	1	0	42	139				
FTCD	10841	broad.mit.edu	37	21	47571600	47571600	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr21:47571600T>G	ENST00000291670.5	-	5	551	c.508A>C	c.(508-510)Agt>Cgt	p.S170R	FTCD_ENST00000359679.2_Missense_Mutation_p.S170R|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Missense_Mutation_p.S170R|FTCD_ENST00000397748.1_Missense_Mutation_p.S170R|FTCD_ENST00000355384.2_Missense_Mutation_p.S170R|FTCD_ENST00000397746.3_Missense_Mutation_p.S170R|FTCD-AS1_ENST00000446649.1_RNA	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	170	Formiminotransferase N-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GCCCCCCAACTGGGGACAAAG	0.627																																						ENST00000397748.1																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(508-510)Agt>Cgt		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						49.0	59.0	56.0					21																	47571600		2202	4299	6501	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47571600T>G	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.508A>C	21.37:g.47571600T>G	ENSP00000291670:p.Ser170Arg					FTCD_ENST00000291670.5_Missense_Mutation_p.S170R|FTCD_ENST00000359679.2_Missense_Mutation_p.S170R|FTCD_ENST00000397743.1_Missense_Mutation_p.S170R|FTCD_ENST00000355384.2_Missense_Mutation_p.S170R|FTCD_ENST00000498355.2_5'UTR|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Missense_Mutation_p.S170R	p.S170R			O95954	FTCD_HUMAN		Colorectal(79;0.235)	5	551	-	Breast(49;0.214)		170			Formiminotransferase N-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.508A>C	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.462773	0.26248	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	4.57	4.57	0.56435	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase catalytic domain (1);Formiminotransferase, N-terminal subdomain (2);	0.624370	0.16051	N	0.231988	T	0.61887	0.2383	N	0.26162	0.8	0.46564	D	0.999106	B;B;B	0.25235	0.121;0.1;0.046	B;B;B	0.20767	0.031;0.01;0.027	T	0.54166	-0.8334	10	0.07990	T	0.79	.	10.9687	0.47426	0.0:0.0:0.1685:0.8315	.	170;170;170	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	R	170	ENSP00000291670:S170R;ENSP00000380856:S170R;ENSP00000352707:S170R;ENSP00000347545:S170R;ENSP00000380854:S170R;ENSP00000380851:S170R	ENSP00000291670:S170R	S	-	1	0	FTCD	46396028	0.275000	0.24201	1.000000	0.80357	0.208000	0.24298	0.886000	0.28241	1.686000	0.51046	0.482000	0.46254	AGT		0.627	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		20	55	0	0	0	1	0	20	55				
FRG1B	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)Aga>Tga																																						SO:0001587	stop_gained	284802							g.chr20:29625955A>T			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.199A>T	20.37:g.29625955A>T	ENSP00000278882:p.Arg67*					FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*	p.R67*							5	579	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.199A>T		.	.	.	.	.	.	.	.	.	.	a	29.6	5.022161	0.93462	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	.	.	.	X	67;72;67	.	ENSP00000278882:R67X	R	+	1	2	FRG1B	28239616	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	3.670000	0.54569	1.028000	0.39785	0.155000	0.16302	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	96	0	0	0	1	0	7	96				
GPATCH8	23131	broad.mit.edu	37	17	42476846	42476846	+	Missense_Mutation	SNP	G	G	A	rs200033732		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr17:42476846G>A	ENST00000591680.1	-	8	2629	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W	GPATCH8_ENST00000434000.1_Missense_Mutation_p.R789W	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	867	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TAAGAACGCCGGGAGGAACGA	0.537																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2365-2367)Cgg>Tgg		G patch domain containing 8							136.0	122.0	127.0					17																	42476846		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476846G>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2599C>T	17.37:g.42476846G>A	ENSP00000467556:p.Arg867Trp					GPATCH8_ENST00000591680.1_Missense_Mutation_p.R867W	p.R789W			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2647	-		Prostate(33;0.0181)	867					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.2365C>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718856	0.30503	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.12879	2.64	5.21	2.0	0.26442	.	0.152498	0.44097	D	0.000490	T	0.09069	0.0224	N	0.14661	0.345	0.30810	N	0.738909	D	0.67145	0.996	B	0.43623	0.425	T	0.07252	-1.0782	10	0.66056	D	0.02	-4.1826	12.052	0.53511	0.0:0.0:0.5475:0.4525	.	867	Q9UKJ3	GPTC8_HUMAN	W	867;789	ENSP00000395016:R789W	ENSP00000335486:R867W	R	-	1	2	GPATCH8	39832372	0.586000	0.26782	0.972000	0.41901	0.987000	0.75469	0.947000	0.29082	0.300000	0.22699	0.561000	0.74099	CGG		0.537	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		4	113	0	0	0	1	0	4	113				
TMEM132A	54972	broad.mit.edu	37	11	60694805	60694805	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:60694805G>A	ENST00000453848.2	+	2	388	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R77Q|RP11-881M11.4_ENST00000543907.1_RNA			Q24JP5	T132A_HUMAN	transmembrane protein 132A	77						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGAGCTCCCGATCTGAGACC	0.642																																						ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(229-231)cGa>cAa		transmembrane protein 132A							52.0	58.0	56.0					11																	60694805		2203	4299	6502	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60694805G>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.230G>A	11.37:g.60694805G>A	ENSP00000405823:p.Arg77Gln					TMEM132A_ENST00000453848.2_Missense_Mutation_p.R77Q	p.R77Q	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			2	383	+			77					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.230G>A	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009533	0.93346	.	.	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.09073	3.03;3.02	4.69	4.69	0.59074	.	0.077476	0.49916	D	0.000125	T	0.27134	0.0665	M	0.66439	2.03	0.37188	D	0.90381	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.74674	0.984;0.975;0.927	T	0.11494	-1.0585	10	0.87932	D	0	.	15.8062	0.78513	0.0:0.0:1.0:0.0	.	66;77;77	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	Q	77	ENSP00000405823:R77Q;ENSP00000005286:R77Q	ENSP00000005286:R77Q	R	+	2	0	TMEM132A	60451381	0.944000	0.32072	0.956000	0.39512	0.982000	0.71751	2.039000	0.41193	2.328000	0.79073	0.462000	0.41574	CGA		0.642	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		4	154	0	0	0	1	0	4	154				
CTNNA2	1496	broad.mit.edu	37	2	80620353	80620353	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr2:80620353A>T	ENST00000402739.4	+	7	1079	c.1074A>T	c.(1072-1074)aaA>aaT	p.K358N	CTNNA2_ENST00000466387.1_Missense_Mutation_p.K358N|CTNNA2_ENST00000361291.4_Missense_Mutation_p.K392N|CTNNA2_ENST00000541047.1_Missense_Mutation_p.K358N|CTNNA2_ENST00000343114.3_Missense_Mutation_p.K37N|CTNNA2_ENST00000496558.1_Missense_Mutation_p.K358N|CTNNA2_ENST00000540488.1_Missense_Mutation_p.K358N	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	358					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GGAAAGAAAAAGGAGATCCTC	0.279																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1072-1074)aaA>aaT		catenin (cadherin-associated protein), alpha 2							88.0	84.0	85.0					2																	80620353		1821	4075	5896	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80620353A>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1074A>T	2.37:g.80620353A>T	ENSP00000384638:p.Lys358Asn					CTNNA2_ENST00000361291.4_Missense_Mutation_p.K392N|CTNNA2_ENST00000343114.3_Missense_Mutation_p.K37N|CTNNA2_ENST00000541047.1_Missense_Mutation_p.K358N|CTNNA2_ENST00000540488.1_Missense_Mutation_p.K358N|CTNNA2_ENST00000402739.4_Missense_Mutation_p.K358N|CTNNA2_ENST00000496558.1_Missense_Mutation_p.K358N	p.K358N			P26232	CTNA2_HUMAN			12	1798	+			358					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1074A>T		.	.	.	.	.	.	.	.	.	.	A	12.67	2.007258	0.35415	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;2.49;1.48	5.88	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	N	0.25647	0.755	0.50039	D	0.999847	B;P;P	0.36412	0.27;0.552;0.552	B;B;B	0.41135	0.348;0.173;0.242	T	0.04678	-1.0934	9	.	.	.	.	9.7743	0.40609	0.8579:0.0:0.1421:0.0	.	358;358;358	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	N	358;358;392;358;358;358;37;23	ENSP00000418191:K358N;ENSP00000419295:K358N;ENSP00000355398:K392N;ENSP00000384638:K358N;ENSP00000444675:K358N;ENSP00000441705:K358N;ENSP00000341500:K37N;ENSP00000386587:K23N	.	K	+	3	2	CTNNA2	80473864	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.745000	0.47459	1.055000	0.40461	-0.250000	0.11733	AAA		0.279	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		13	260	0	0	0	1	0	13	260				
SLIT2	9353	broad.mit.edu	37	4	20618684	20618684	+	Silent	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr4:20618684T>C	ENST00000504154.1	+	35	4251	c.3999T>C	c.(3997-3999)tgT>tgC	p.C1333C	SLIT2_ENST00000503837.1_Silent_p.C1329C|SLIT2_ENST00000273739.5_Silent_p.C1346C|SLIT2_ENST00000503823.1_Silent_p.C1325C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1333	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)			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						TGCCTGGCTGTGAGCCATGCC	0.592																																						ENST00000504154.1																			0				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						c.(3997-3999)tgT>tgC		slit homolog 2 (Drosophila)							61.0	59.0	60.0					4																	20618684		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:20618684T>C	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.3999T>C	4.37:g.20618684T>C						SLIT2_ENST00000503837.1_Silent_p.C1329C|SLIT2_ENST00000273739.5_Silent_p.C1346C|SLIT2_ENST00000503823.1_Silent_p.C1325C	p.C1333C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			35	4251	+			1333			EGF-like 7.|Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3999T>C	CCDS3426.1																																																																																				0.592	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			19	86	0	0	0	1	0	19	86				
CROCCP2	84809	broad.mit.edu	37	1	16956761	16956761	+	lincRNA	SNP	C	C	G			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:16956761C>G	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCTGGACCTGCCCTGGGGCAG	0.647																																						ENST00000412962.1																			0																																																			84809							g.chr1:16956761C>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956761C>G														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.647	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	3	0	0	0	1	0	3	3				
PCDHGB1	56104	broad.mit.edu	37	5	140731531	140731531	+	Silent	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr5:140731531C>T	ENST00000523390.1	+	1	1704	c.1704C>T	c.(1702-1704)tcC>tcT	p.S568S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	568	Cadherin 6. {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)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATGGCTCCGCCCTCTTCG	0.677																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(1702-1704)tcC>tcT									24.0	30.0	28.0					5																	140731531		1987	4153	6140	SO:0001819	synonymous_variant	56104							g.chr5:140731531C>T	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1704C>T	5.37:g.140731531C>T						PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.S568S	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1704	+								Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.1704C>T	CCDS54923.1																																																																																				0.677	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		15	70	0	0	0	1	0	15	70				
VN1R2	317701	broad.mit.edu	37	19	53762522	53762522	+	Silent	SNP	C	C	A	rs143089101		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr19:53762522C>A	ENST00000341702.3	+	1	978	c.894C>A	c.(892-894)atC>atA	p.I298I	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	298					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TACAACACATCTGTAGGAACA	0.493																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(892-894)atC>atA		vomeronasal 1 receptor 2		C		0,4406		0,0,2203	176.0	160.0	165.0		894	-3.9	0.0	19	dbSNP_134	165	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	VN1R2	NM_173856.2		0,4,6499	AA,AC,CC		0.0465,0.0,0.0308		298/396	53762522	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762522C>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.894C>A	19.37:g.53762522C>A						VN1R2_ENST00000598458.1_3'UTR	p.I298I	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	978	+			298					A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	37	c.894C>A	CCDS12862.1																																																																																				0.493	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		69	93	1	0	9.07738e-34	1	1.02815e-33	69	93				
GIF	2694	broad.mit.edu	37	11	59612919	59612919	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:59612919C>T	ENST00000257248.2	-	1	55	c.8G>A	c.(7-9)tGg>tAg	p.W3*	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	3					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GAGGGCAAACCAGGCCATCTC	0.478																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000257248.2																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(7-9)tGg>tAg		gastric intrinsic factor (vitamin B synthesis)							173.0	168.0	169.0					11																	59612919		2201	4295	6496	SO:0001587	stop_gained	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59612919C>T	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.8G>A	11.37:g.59612919C>T	ENSP00000257248:p.Trp3*					GIF_ENST00000541311.1_5'UTR	p.W3*	NM_005142.2	NP_005133.2	P27352	IF_HUMAN			1	55	-			3					B2RAN8|B4DVZ1	Nonsense_Mutation	SNP	ENST00000257248.2	37	c.8G>A	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828595	0.90955	.	.	ENSG00000134812	ENST00000257248	.	.	.	5.72	2.59	0.31030	.	0.907733	0.09374	N	0.810944	.	.	.	.	.	.	0.21386	N	0.999706	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.4074	4.1124	0.10065	0.1981:0.6097:0.0:0.1922	.	.	.	.	X	3	.	ENSP00000257248:W3X	W	-	2	0	GIF	59369495	0.001000	0.12720	0.783000	0.31826	0.846000	0.48090	0.110000	0.15437	1.415000	0.47037	0.561000	0.74099	TGG		0.478	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		24	137	0	0	0	1	0	24	137				
DRC7	84229	broad.mit.edu	37	16	57760065	57760065	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr16:57760065G>A	ENST00000360716.3	+	14	2065	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	CCDC135_ENST00000336825.8_Missense_Mutation_p.R550H|CCDC135_ENST00000394337.4_Missense_Mutation_p.R615H			Q8IY82	CC135_HUMAN		615					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCGGAGGAGCGCATCCAGCTG	0.632																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1843-1845)cGc>cAc		coiled-coil domain containing 135							61.0	53.0	56.0					16																	57760065		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57760065G>A																												ENST00000360716.3:c.1844G>A	16.37:g.57760065G>A	ENSP00000353942:p.Arg615His					CCDC135_ENST00000394337.4_Missense_Mutation_p.R615H|CCDC135_ENST00000336825.8_Missense_Mutation_p.R550H	p.R615H			Q8IY82	CC135_HUMAN			14	2065	+			615					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1844G>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	g	18.56	3.650959	0.67472	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10763	3.0;2.84;3.0	4.87	3.92	0.45320	.	0.178139	0.42682	D	0.000671	T	0.30479	0.0766	M	0.80847	2.515	0.32648	N	0.519777	D;D	0.89917	1.0;1.0	D;D	0.78314	0.987;0.991	T	0.43310	-0.9399	10	0.59425	D	0.04	-28.8677	8.1322	0.31033	0.0847:0.0:0.7591:0.1562	.	550;615	Q8IY82-2;Q8IY82	.;CC135_HUMAN	H	615;550;615	ENSP00000377869:R615H;ENSP00000338938:R550H;ENSP00000353942:R615H	ENSP00000338938:R550H	R	+	2	0	CCDC135	56317566	0.999000	0.42202	1.000000	0.80357	0.784000	0.44337	2.094000	0.41719	1.064000	0.40671	-0.119000	0.15052	CGC		0.632	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			4	119	0	0	0	1	0	4	119				
CABP4	57010	broad.mit.edu	37	11	67223619	67223619	+	Intron	SNP	G	G	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:67223619G>T	ENST00000325656.5	+	2	443				CABP4_ENST00000438189.2_Silent_p.P4P	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4						photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGACAGAGCCGTGGCTGGCCC	0.657																																						ENST00000438189.2																			0				central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(10-12)ccG>ccT		calcium binding protein 4							50.0	45.0	47.0					11																	67223619		2199	4293	6492	SO:0001627	intron_variant	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223619G>T	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.367-40G>T	11.37:g.67223619G>T						CABP4_ENST00000325656.5_Intron	p.P4P			P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		3	356	+			0					Q8N4Z2|Q8WWY5	Silent	SNP	ENST00000325656.5	37	c.12G>T	CCDS8166.1																																																																																				0.657	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			10	71	1	0	1.58986e-06	1	1.63403e-06	10	71				
LMTK2	22853	broad.mit.edu	37	7	97833262	97833262	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr7:97833262G>A	ENST00000297293.5	+	13	4540	c.4247G>A	c.(4246-4248)gGc>gAc	p.G1416D		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1416					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTAGGTGGTGGCTTTGAGTGG	0.493																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(4246-4248)gGc>gAc		lemur tyrosine kinase 2							83.0	97.0	92.0					7																	97833262		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97833262G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.4247G>A	7.37:g.97833262G>A	ENSP00000297293:p.Gly1416Asp						p.G1416D	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			13	4540	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1416					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.4247G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515129	0.85389	.	.	ENSG00000164715	ENST00000297293	D	0.83837	-1.77	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	M	0.82517	2.595	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	D	0.92475	0.5988	10	0.87932	D	0	.	19.1316	0.93410	0.0:0.0:1.0:0.0	.	1416	Q8IWU2	LMTK2_HUMAN	D	1416	ENSP00000297293:G1416D	ENSP00000297293:G1416D	G	+	2	0	LMTK2	97671198	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.045000	0.71020	2.769000	0.95229	0.563000	0.77884	GGC		0.493	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		74	159	0	0	0	1	0	74	159				
KRT72	140807	broad.mit.edu	37	12	52986206	52986206	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr12:52986206T>C	ENST00000537672.2	-	4	782	c.772A>G	c.(772-774)Aaa>Gaa	p.K258E	KRT72_ENST00000398066.3_Missense_Mutation_p.K70E|KRT72_ENST00000354310.4_Missense_Mutation_p.K258E|KRT72_ENST00000293745.2_Missense_Mutation_p.K258E	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	258	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTGAAGAATTTAATCTCATCT	0.502																																						ENST00000293745.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(772-774)Aaa>Gaa		keratin 72							109.0	97.0	101.0					12																	52986206		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52986206T>C	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.772A>G	12.37:g.52986206T>C	ENSP00000441160:p.Lys258Glu					KRT72_ENST00000354310.4_Missense_Mutation_p.K258E|KRT72_ENST00000398066.3_Missense_Mutation_p.K70E|KRT72_ENST00000537672.2_Missense_Mutation_p.K258E	p.K258E	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	4	857	-			258			Coil 1B.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.772A>G	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.367708	0.42003	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	T;T;D;T	0.87809	-1.03;-1.03;-2.3;-1.03	4.97	3.81	0.43845	Filament (1);	0.000000	0.53938	D	0.000046	T	0.78027	0.4219	N	0.05534	-0.03	0.30021	N	0.814364	B;B	0.26512	0.151;0.087	B;B	0.37888	0.26;0.12	T	0.75158	-0.3416	10	0.56958	D	0.05	.	10.1235	0.42634	0.0:0.1448:0.0:0.8552	.	258;258	B4DEI8;Q14CN4	.;K2C72_HUMAN	E	258;258;258;70	ENSP00000441160:K258E;ENSP00000293745:K258E;ENSP00000346269:K258E;ENSP00000446151:K70E	ENSP00000293745:K258E	K	-	1	0	KRT72	51272473	0.948000	0.32251	0.993000	0.49108	0.829000	0.46940	1.626000	0.37039	0.986000	0.38683	0.482000	0.46254	AAA		0.502	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		16	54	0	0	0	1	0	16	54				
CELA3A	10136	broad.mit.edu	37	1	22336270	22336270	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:22336270G>T	ENST00000290122.3	+	7	734	c.715G>T	c.(715-717)Gtt>Ttt	p.V239F	RN7SL186P_ENST00000466485.2_RNA|RNU6-776P_ENST00000364403.1_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	239	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACCAGCTTTGTTTCTGCCTT	0.612																																						ENST00000290122.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(715-717)Gtt>Ttt		chymotrypsin-like elastase family, member 3A							82.0	71.0	74.0					1																	22336270		2197	4300	6497	SO:0001583	missense	10136							g.chr1:22336270G>T	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.715G>T	1.37:g.22336270G>T	ENSP00000290122:p.Val239Phe						p.V239F	NM_005747.4	NP_005738.4					7	734	+								B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	c.715G>T	CCDS220.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302036	0.60195	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	T;T	0.17691	2.26;2.26	3.65	3.65	0.41850	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.34221	0.0890	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.07539	-1.0767	9	0.59425	D	0.04	-4.061	12.8948	0.58093	0.0:0.0:1.0:0.0	.	239	P09093	CEL3A_HUMAN	F	239;47	ENSP00000290122:V239F;ENSP00000383130:V47F	ENSP00000290122:V239F	V	+	1	0	CELA3A	22208857	1.000000	0.71417	0.152000	0.22495	0.512000	0.34134	9.349000	0.97066	1.856000	0.53863	0.455000	0.32223	GTT		0.612	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		4	67	1	0	1.06961e-07	1	1.12007e-07	4	67				
SIPA1	6494	broad.mit.edu	37	11	65410029	65410029	+	Silent	SNP	G	G	A			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:65410029G>A	ENST00000394224.3	+	4	1199	c.903G>A	c.(901-903)ccG>ccA	p.P301P	SIPA1_ENST00000394227.3_Silent_p.P301P|SIPA1_ENST00000527525.1_Silent_p.P301P|SIPA1_ENST00000534313.1_Silent_p.P301P	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	301					cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACGTGGCGCCGCAGCTGAGCC	0.692																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(901-903)ccG>ccA		signal-induced proliferation-associated 1							11.0	12.0	12.0					11																	65410029		2191	4271	6462	SO:0001819	synonymous_variant	6494				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity	g.chr11:65410029G>A	AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.903G>A	11.37:g.65410029G>A						SIPA1_ENST00000534313.1_Silent_p.P301P|SIPA1_ENST00000394227.3_Silent_p.P301P|SIPA1_ENST00000527525.1_Silent_p.P301P	p.P301P	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			4	1199	+			301					O14518|O60484|O60618|Q2YD83	Silent	SNP	ENST00000394224.3	37	c.903G>A	CCDS8108.1																																																																																				0.692	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		5	23	0	0	0	1	0	5	23				
HSD3B1	3283	broad.mit.edu	37	1	120057173	120057174	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:120057173_120057174delCT	ENST00000369413.3	+	4	1172_1173	c.1027_1028delCT	c.(1027-1029)ctcfs	p.L343fs	HSD3B1_ENST00000235547.6_Frame_Shift_Del_p.L345fs|HSD3B1_ENST00000528909.1_Frame_Shift_Del_p.L343fs			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	343					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	GTATAAGCCACTCTACAGCTGG	0.51																																						ENST00000235547.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32						c.(1033-1035)cfs		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	NADH(DB00157)|Trilostane(DB01108)																																			SO:0001589	frameshift_variant	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120057173_120057174delCT	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.1027_1028delCT	1.37:g.120057175_120057176delCT	ENSP00000358421:p.Leu343fs					HSD3B1_ENST00000369413.3_Frame_Shift_Del_p.L343fs|HSD3B1_ENST00000528909.1_Frame_Shift_Del_p.L343fs	p.L345fs	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	1172_1173	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	343					A8K691|Q14545|Q8IV65	Frame_Shift_Del	DEL	ENST00000369413.3	37	c.1033_1034delCT	CCDS903.1																																																																																				0.510	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862		18	97						18	97	---	---	---	---
HDGF	3068	broad.mit.edu	37	1	156714066	156714068	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr1:156714066_156714068delCTT	ENST00000357325.5	-	4	690_692	c.376_378delAAG	c.(376-378)aagdel	p.K126del	HDGF_ENST00000368209.5_In_Frame_Del_p.K119del|HDGF_ENST00000368206.5_In_Frame_Del_p.K142del|HDGF_ENST00000537739.1_In_Frame_Del_p.K126del|HDGF_ENST00000416666.2_In_Frame_Del_p.K94del|HDGF_ENST00000465180.1_5'UTR	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	126	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTGCATTCCCCTTCTTATCACCG	0.571																																						ENST00000357325.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(376-378)del		hepatoma-derived growth factor																																				SO:0001651	inframe_deletion	3068				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	g.chr1:156714066_156714068delCTT	D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.376_378delAAG	1.37:g.156714069_156714071delCTT	ENSP00000349878:p.Lys126del					HDGF_ENST00000416666.2_In_Frame_Del_p.K94del|HDGF_ENST00000537739.1_In_Frame_Del_p.K126del|HDGF_ENST00000368206.5_In_Frame_Del_p.K142del|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368209.5_In_Frame_Del_p.K119del	p.K126del	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN		Colorectal(1306;0.018)	4	690_692	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)	126			Glu-rich.		B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	In_Frame_Del	DEL	ENST00000357325.5	37	c.376_378delAAG	CCDS1156.1																																																																																				0.571	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494		131	500						131	500	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48631047	48631048	+	Frame_Shift_Ins	INS	-	-	GTTG			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr3:48631047_48631048insGTTG	ENST00000328333.8	-	3	455_456	c.348_349insCAAC	c.(346-351)aacactfs	p.T117fs	COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.T117fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	117	Nonhelical region (NC1).|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTGTGCGAGTGTTGCCCCCCT	0.619																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(346-351)aactcgfs		collagen, type VII, alpha 1																																				SO:0001589	frameshift_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48631047_48631048insGTTG	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.345_348dupCAAC	3.37:g.48631048_48631051dupGTTG	ENSP00000332371:p.Thr117fs					COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.S117fs	p.S117fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	3	455_456	-			117			Nonhelical region (NC1).|VWFA 1.		Q14054|Q16507	Frame_Shift_Ins	INS	ENST00000328333.8	37	c.348_349insCAAC	CCDS2773.1																																																																																				0.619	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		24	96						24	96	---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101178202	101178203	+	Splice_Site	INS	-	-	TA			TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr8:101178202_101178203insTA	ENST00000388798.2	+	3	491		c.e3+1		SPAG1_ENST00000251809.3_Splice_Site|SPAG1_ENST00000520508.1_Splice_Site|SPAG1_ENST00000520643.1_Splice_Site	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1						axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TGATATAAAGGTATATAGTAAT	0.381																																						ENST00000388798.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.e3+1		sperm associated antigen 1																																				SO:0001630	splice_region_variant	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101178202_101178203insTA	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.300+1->TA	8.37:g.101178207_101178208dupTA						SPAG1_ENST00000251809.3_Splice_Site|SPAG1_ENST00000520508.1_Splice_Site|SPAG1_ENST00000520643.1_Splice_Site		NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	3	491	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)						A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Splice_Site	INS	ENST00000388798.2	37		CCDS34930.1																																																																																				0.381	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218	Intron	18	40						18	40	---	---	---	---
LOC101928823	101928823	broad.mit.edu	37	11	112332121	112332121	+	lincRNA	DEL	T	T	-	rs545871933	byFrequency	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr11:112332121delT	ENST00000528496.1	+	0	231																											TGATTTTATGTTTTTTTTTTT	0.378																																						ENST00000528496.1																			0																																																			101928823							g.chr11:112332121delT																													11.37:g.112332121delT														0	231	+									RNA	DEL	ENST00000528496.1	37																																																																																						0.378	RP11-65M17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000393672.1			2	4						2	4	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			646405							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			3	5						3	5	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77791957	77791989	+	Splice_Site	DEL	GTTTTAAAAATTCCTTACAGAAAAACTTCCAAA	GTTTTAAAAATTCCTTACAGAAAAACTTCCAAA	-	rs190681284		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr13:77791957_77791989delGTTTTAAAAATTCCTTACAGAAAAACTTCCAAA	ENST00000544440.2	-	21	2946_2961	c.2929_2944delTTTGGAAGTTTTTCTGTAAGGAATTTTTAAAAC	c.(2929-2946)tttggaagtttttctgta>ta	p.FGSFSV977del	MYCBP2_ENST00000407578.2_Splice_Site_p.FGSFSV1015del|MYCBP2_ENST00000357337.6_Splice_Site_p.FGSFSV977del|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TATTATTAATGTTTTAAAAATTCCTTACAGAAAAACTTCCAAATGTGAAGACC	0.335																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.e21+1		MYC binding protein 2, E3 ubiquitin protein ligase																																				SO:0001630	splice_region_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77791957_77791989delGTTTTAAAAATTCCTTACAGAAAAACTTCCAAA	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.2943+1TTTGGAAGTTTTTCTGTAAGGAATTTTTAAAAC>-	13.37:g.77791957_77791989delGTTTTAAAAATTCCTTACAGAAAAACTTCCAAA						MYCBP2_ENST00000357337.6_Splice_Site_p.977_splice|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Splice_Site_p.977_splice	p.1015_splice	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	21	3309_3324	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	977						Splice_Site	DEL	ENST00000544440.2	37	c.3057_splice																																																																																					0.335	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	In_Frame_Del	9	58						9	58	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-IQ-A61K-01A-11D-A30E-08	TCGA-IQ-A61K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f47978-41eb-42bc-9cc4-e4ba4bf55101	e35153eb-f2d2-44af-bcd2-28bdded32ad1	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			3	6						3	6	---	---	---	---
