#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
TBC1D10B	26000	broad.mit.edu	37	16	30369853	30369853	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:30369853C>T	ENST00000409939.3	-	9	1919	c.1839G>A	c.(1837-1839)gaG>gaA	p.E613E	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	613					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GGGCTGCATTCTCCCGCTCAA	0.637																																						ENST00000409939.3																			0				endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(1837-1839)gaG>gaA		TBC1 domain family, member 10B							30.0	29.0	29.0					16																	30369853		2197	4299	6496	SO:0001819	synonymous_variant	26000					cytoplasm	Rab GTPase activator activity	g.chr16:30369853C>T	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1839G>A	16.37:g.30369853C>T							p.E613E	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	Colorectal(24;0.193)		9	1919	-			613					B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Silent	SNP	ENST00000409939.3	37	c.1839G>A	CCDS10676.2																																																																																				0.637	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		6	27	0	0	0	1	0	6	27				
PCDHGB7	56099	broad.mit.edu	37	5	140797757	140797757	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:140797757G>A	ENST00000398594.2	+	1	331	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	111	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)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGTGGTGGAAAATCCTTT	0.418																																						ENST00000398594.2																			0				central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(331-333)Gaa>Aaa									172.0	177.0	175.0					5																	140797757		1849	4075	5924	SO:0001583	missense	56099							g.chr5:140797757G>A	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.331G>A	5.37:g.140797757G>A	ENSP00000381594:p.Glu111Lys					PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	p.E111K	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	331	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.331G>A	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.963133	0.74016	.	.	ENSG00000254122	ENST00000398594	T	0.33654	1.4	5.93	5.05	0.67936	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.33753	U	0.004592	T	0.57917	0.2086	M	0.71206	2.165	0.27547	N	0.950611	D;D	0.89917	1.0;0.998	D;D	0.77557	0.99;0.967	T	0.56661	-0.7942	10	0.72032	D	0.01	.	12.5854	0.56414	0.0:0.1266:0.7419:0.1314	.	111;111	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	K	111	ENSP00000381594:E111K	ENSP00000381594:E111K	E	+	1	0	PCDHGB7	140777941	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.006000	0.57083	1.485000	0.48380	0.655000	0.94253	GAA		0.418	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		34	97	0	0	0	1	0	34	97				
DYNC1H1	1778	broad.mit.edu	37	14	102489170	102489170	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:102489170G>C	ENST00000360184.4	+	43	8754	c.8590G>C	c.(8590-8592)Gag>Cag	p.E2864Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2864					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CATCGACAGAGAGAAGGCAAT	0.493																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(8590-8592)Gag>Cag		dynein, cytoplasmic 1, heavy chain 1							250.0	194.0	213.0					14																	102489170		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102489170G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8590G>C	14.37:g.102489170G>C	ENSP00000348965:p.Glu2864Gln						p.E2864Q	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			43	8754	+			2864					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.8590G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487782	0.44249	.	.	ENSG00000197102	ENST00000360184	T	0.32515	1.45	5.17	5.17	0.71159	.	0.051864	0.85682	D	0.000000	T	0.27169	0.0666	L	0.33189	0.99	0.52501	D	0.999956	B	0.09022	0.002	B	0.08055	0.003	T	0.03034	-1.1080	10	0.30078	T	0.28	.	18.6647	0.91485	0.0:0.0:1.0:0.0	.	2864	Q14204	DYHC1_HUMAN	Q	2864	ENSP00000348965:E2864Q	ENSP00000348965:E2864Q	E	+	1	0	DYNC1H1	101558923	1.000000	0.71417	0.997000	0.53966	0.802000	0.45316	7.929000	0.87595	2.408000	0.81797	0.467000	0.42956	GAG		0.493	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		33	124	0	0	0	1	0	33	124				
ZFHX4	79776	broad.mit.edu	37	8	77764690	77764690	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:77764690G>C	ENST00000521891.2	+	10	5981	c.5533G>C	c.(5533-5535)Gac>Cac	p.D1845H	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1800H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1800H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1819H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1800					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTGAGTGCAGACTGCCAAAT	0.438										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(5533-5535)Gac>Cac		zinc finger homeobox 4							49.0	45.0	46.0					8																	77764690		2146	4273	6419	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764690G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5533G>C	8.37:g.77764690G>C	ENSP00000430497:p.Asp1845His	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1800H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1800H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1819H	p.D1845H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5981	+			1800					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5533G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208448	0.39003	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.53	4.53	0.55603	.	0.000000	0.44688	U	0.000421	T	0.49695	0.1572	L	0.34521	1.04	0.53688	D	0.99997	D;D;D	0.56287	0.957;0.975;0.975	P;P;P	0.57720	0.557;0.826;0.742	T	0.47699	-0.9097	10	0.44086	T	0.13	.	17.8732	0.88817	0.0:0.0:1.0:0.0	.	1800;1800;1845	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1845;1845;1800;1800;1819	ENSP00000430497:D1845H;ENSP00000399605:D1800H;ENSP00000050961:D1800H;ENSP00000430848:D1819H	ENSP00000050961:D1800H	D	+	1	0	ZFHX4	77927245	1.000000	0.71417	0.946000	0.38457	0.788000	0.44548	9.543000	0.98089	2.529000	0.85273	0.632000	0.83419	GAC		0.438	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	7	0	0	0	1	0	9	7				
TP53	7157	broad.mit.edu	37	17	7578402	7578402	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:7578402G>A	ENST00000269305.4	-	5	717	c.528C>T	c.(526-528)tgC>tgT	p.C176C	TP53_ENST00000455263.2_Silent_p.C176C|TP53_ENST00000420246.2_Silent_p.C176C|TP53_ENST00000359597.4_Silent_p.C176C|TP53_ENST00000413465.2_Silent_p.C176C|TP53_ENST00000445888.2_Silent_p.C176C|TP53_ENST00000574684.1_5'UTR	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176*(12)|p.C176W(11)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178fs*69(3)|p.R175_E180delRCPHHE(3)|p.C83*(2)|p.V173fs*59(2)|p.C44*(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176F(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(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.R42fs*24(1)|p.P177fs*4(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(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)	CATGGTGGGGGCAGCGCCTCA	0.647		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		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"""		75	Deletion - Frameshift(21)|Substitution - Nonsense(16)|Deletion - In frame(13)|Substitution - Missense(12)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(2)	p.C176*(12)|p.C176W(11)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178fs*69(3)|p.R175_E180delRCPHHE(3)|p.C83*(2)|p.V173fs*59(2)|p.C44*(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176F(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(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.R42fs*24(1)|p.P177fs*4(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)	breast(15)|large_intestine(12)|upper_aerodigestive_tract(8)|lung(8)|oesophagus(8)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|stomach(2)|central_nervous_system(2)|liver(2)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|skin(1)|pancreas(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						c.(526-528)tgC>tgT	Other conserved DNA damage response genes	tumor protein p53							48.0	48.0	48.0					17																	7578402		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:7578402G>A	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.528C>T	17.37:g.7578402G>A		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_ENST00000455263.2_Silent_p.C176C|TP53_ENST00000445888.2_Silent_p.C176C|TP53_ENST00000269305.4_Silent_p.C176C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Silent_p.C176C|TP53_ENST00000359597.4_Silent_p.C176C	p.C176C	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	660	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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	Silent	SNP	ENST00000269305.4	37	c.528C>T	CCDS11118.1																																																																																				0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	31	0	0	0	1	0	25	31				
RGS22	26166	broad.mit.edu	37	8	101051168	101051168	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:101051168C>A	ENST00000360863.6	-	14	2351	c.2157G>T	c.(2155-2157)aaG>aaT	p.K719N	RGS22_ENST00000523287.1_Missense_Mutation_p.K538N|RGS22_ENST00000523437.1_Missense_Mutation_p.K707N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	719					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)		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)			CTTGCGCTTGCTTGCATACTT	0.393																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				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.(2155-2157)aaG>aaT		regulator of G-protein signaling 22							122.0	108.0	112.0					8																	101051168		1871	4100	5971	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101051168C>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.2157G>T	8.37:g.101051168C>A	ENSP00000354109:p.Lys719Asn					RGS22_ENST00000523287.1_Missense_Mutation_p.K538N|RGS22_ENST00000523437.1_Missense_Mutation_p.K707N	p.K719N	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)		14	2351	-			719					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.2157G>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381872	0.61845	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.01918	4.56;4.56;4.56	5.32	1.47	0.22746	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);	0.063724	0.64402	D	0.000010	T	0.06645	0.0170	L	0.47716	1.5	0.29676	N	0.842112	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.71414	0.966;0.966;0.973	T	0.02774	-1.1112	10	0.72032	D	0.01	.	9.1652	0.37048	0.0:0.5669:0.0:0.4331	.	707;719;538	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	N	719;707;538;707	ENSP00000354109:K719N;ENSP00000429382:K538N;ENSP00000428212:K707N	ENSP00000354109:K719N	K	-	3	2	RGS22	101120344	0.845000	0.29573	1.000000	0.80357	0.991000	0.79684	-0.234000	0.09028	0.250000	0.21479	0.591000	0.81541	AAG		0.393	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		3	38	1	0	0.004672	1	0.00479876	3	38				
RGS4	5999	broad.mit.edu	37	1	163044203	163044203	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:163044203C>G	ENST00000367909.6	+	5	811	c.471C>G	c.(469-471)ttC>ttG	p.F157L	RGS4_ENST00000367906.3_Missense_Mutation_p.F139L|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000421743.2_Missense_Mutation_p.F254L|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_Missense_Mutation_p.F139L	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	157	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AGAAGATTTTCAACCTGATGG	0.507																																					Ovarian(76;1257 1738 3039 6086)	ENST00000421743.2																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(760-762)ttC>ttG		regulator of G-protein signaling 4							248.0	262.0	257.0					1																	163044203		2203	4300	6503	SO:0001583	missense	5999				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:163044203C>G	BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.471C>G	1.37:g.163044203C>G	ENSP00000356885:p.Phe157Leu					RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000527809.1_Missense_Mutation_p.F139L|RGS4_ENST00000367906.3_Missense_Mutation_p.F139L|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.F157L	p.F254L	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN			6	922	+			157					A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	ENST00000367909.6	37	c.762C>G	CCDS1243.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323982	0.60634	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367906;ENST00000528938	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;4.47	4.93	2.86	0.33363	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.110266	0.64402	D	0.000007	T	0.61048	0.2316	M	0.76170	2.325	0.47374	D	0.999400	P;D	0.62365	0.923;0.991	P;P	0.60286	0.479;0.872	T	0.64356	-0.6427	9	0.62326	D	0.03	.	6.835	0.23931	0.0:0.6928:0.0:0.3072	.	157;254	P49798;A7XA59	RGS4_HUMAN;.	L	254;157;139;139;139	ENSP00000397181:F254L;ENSP00000356885:F157L;ENSP00000433261:F139L;ENSP00000356882:F139L;ENSP00000432194:F139L	ENSP00000356882:F139L	F	+	3	2	RGS4	161310827	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	2.535000	0.45685	0.554000	0.29061	-0.136000	0.14681	TTC		0.507	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083197.2	NM_005613		54	391	0	0	0	1	0	54	391				
ZNF280A	129025	broad.mit.edu	37	22	22868977	22868977	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr22:22868977C>T	ENST00000302097.3	-	2	1230	c.978G>A	c.(976-978)agG>agA	p.R326R		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AGCTGTCGTTCCTCTGCTTCT	0.463																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(976-978)agG>agA		zinc finger protein 280A							152.0	135.0	141.0					22																	22868977		2203	4300	6503	SO:0001819	synonymous_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868977C>T	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.978G>A	22.37:g.22868977C>T							p.R326R	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1230	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	326						Silent	SNP	ENST00000302097.3	37	c.978G>A	CCDS13800.1																																																																																				0.463	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		62	127	0	0	0	1	0	62	127				
WARS	7453	broad.mit.edu	37	14	100801248	100801248	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:100801248G>C	ENST00000355338.2	-	11	1998	c.1380C>G	c.(1378-1380)ttC>ttG	p.F460L	WARS_ENST00000557135.1_Missense_Mutation_p.F460L|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000358655.4_Missense_Mutation_p.F419L|WARS_ENST00000556645.1_Missense_Mutation_p.F419L|WARS_ENST00000392882.2_Missense_Mutation_p.F460L|WARS_ENST00000344102.5_Missense_Mutation_p.F419L	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	460					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	GGGGAGTCATGAACTCTTTCA	0.493																																						ENST00000355338.2																			0				breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1378-1380)ttC>ttG		tryptophanyl-tRNA synthetase	L-Tryptophan(DB00150)						154.0	129.0	138.0					14																	100801248		2203	4300	6503	SO:0001583	missense	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100801248G>C	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1380C>G	14.37:g.100801248G>C	ENSP00000347495:p.Phe460Leu					WARS_ENST00000344102.5_Missense_Mutation_p.F419L|WARS_ENST00000392882.2_Missense_Mutation_p.F460L|WARS_ENST00000556645.1_Missense_Mutation_p.F419L|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000358655.4_Missense_Mutation_p.F419L|WARS_ENST00000557135.1_Missense_Mutation_p.F460L	p.F460L	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN			11	1998	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	460					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Missense_Mutation	SNP	ENST00000355338.2	37	c.1380C>G	CCDS9960.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193265	0.58017	.	.	ENSG00000140105	ENST00000392882;ENST00000358655;ENST00000355338;ENST00000344102;ENST00000557135;ENST00000556645	T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.22	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.79137	0.4395	M	0.87328	2.875	0.80722	D	1	D	0.62365	0.991	P	0.52672	0.706	T	0.82289	-0.0531	10	0.87932	D	0	-34.2147	9.4098	0.38485	0.1937:0.0:0.8063:0.0	.	460	P23381	SYWC_HUMAN	L	460;419;460;419;460;419	ENSP00000376620:F460L;ENSP00000351481:F419L;ENSP00000347495:F460L;ENSP00000339485:F419L;ENSP00000451460:F460L;ENSP00000451887:F419L	ENSP00000339485:F419L	F	-	3	2	WARS	99871001	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	1.539000	0.36104	2.599000	0.87857	0.591000	0.81541	TTC		0.493	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		33	118	0	0	0	1	0	33	118				
TREML2	79865	broad.mit.edu	37	6	41160555	41160555	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:41160555C>T	ENST00000483722.1	-	4	1055	c.870G>A	c.(868-870)aaG>aaA	p.K290K		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	290					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGTGTCTCTTCTTCCAAAACC	0.557																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(868-870)aaG>aaA		triggering receptor expressed on myeloid cells-like 2							134.0	114.0	120.0					6																	41160555		2203	4300	6503	SO:0001819	synonymous_variant	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41160555C>T	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.870G>A	6.37:g.41160555C>T							p.K290K	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			4	1055	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		290					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Silent	SNP	ENST00000483722.1	37	c.870G>A	CCDS4853.2																																																																																				0.557	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		5	21	0	0	0	1	0	5	21				
C1orf106	55765	broad.mit.edu	37	1	200867570	200867570	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:200867570C>T	ENST00000367342.4	+	2	497	c.297C>T	c.(295-297)atC>atT	p.I99I	C1orf106_ENST00000413687.2_Silent_p.I14I	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	99										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						ACAGTGGCATCATCCTGCAGT	0.612																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(295-297)atC>atT		chromosome 1 open reading frame 106							127.0	107.0	114.0					1																	200867570		2203	4300	6503	SO:0001819	synonymous_variant	55765							g.chr1:200867570C>T	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.297C>T	1.37:g.200867570C>T						C1orf106_ENST00000413687.2_Silent_p.I14I	p.I99I	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			2	497	+			99					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.297C>T																																																																																					0.612	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		39	119	0	0	0	1	0	39	119				
NCAPH2	29781	broad.mit.edu	37	22	50955877	50955877	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr22:50955877G>A	ENST00000420993.2	+	3	354	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	NCAPH2_ENST00000395698.3_Missense_Mutation_p.V78I|NCAPH2_ENST00000299821.11_Missense_Mutation_p.V78I|NCAPH2_ENST00000395701.3_Missense_Mutation_p.V78I	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	78					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CTACTCACTCGTCTACCAGGC	0.607																																						ENST00000395701.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.(232-234)Gtc>Atc		non-SMC condensin II complex, subunit H2							116.0	113.0	114.0					22																	50955877		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50955877G>A	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.232G>A	22.37:g.50955877G>A	ENSP00000410088:p.Val78Ile					NCAPH2_ENST00000395698.3_Missense_Mutation_p.V78I|NCAPH2_ENST00000420993.2_Missense_Mutation_p.V78I|NCAPH2_ENST00000299821.11_Missense_Mutation_p.V78I	p.V78I			Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	3	326	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	78					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.232G>A	CCDS14094.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.787645|4.787645	0.90367|0.90367	.|.	.|.	ENSG00000025770|ENSG00000025770	ENST00000496227|ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.|.	.|.	.|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79581|0.79581	0.4470|0.4470	M|M	0.78637|0.78637	2.42|2.42	0.53688|0.53688	D|D	0.999977|0.999977	.|D;D;D;D	.|0.89917	.|0.988;1.0;0.99;1.0	.|P;D;P;D	.|0.81914	.|0.451;0.962;0.586;0.995	T|T	0.78976|0.78976	-0.1991|-0.1991	5|9	.|0.40728	.|T	.|0.16	-33.2313|-33.2313	17.7644|17.7644	0.88473|0.88473	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|78;78;78;78	.|Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.|.;.;CNDH2_HUMAN;.	H|I	18|78;78;78;44;78	.|.	.|ENSP00000299821:V78I	R|V	+|+	2|1	0|0	NCAPH2|NCAPH2	49302743|49302743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.862000|0.862000	0.49288|0.49288	4.900000|4.900000	0.63252|0.63252	2.551000|2.551000	0.86045|0.86045	0.561000|0.561000	0.74099|0.74099	CGT|GTC		0.607	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		37	207	0	0	0	1	0	37	207				
CIDEA	1149	broad.mit.edu	37	18	12277158	12277158	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr18:12277158G>A	ENST00000320477.9	+	5	614	c.549G>A	c.(547-549)gtG>gtA	p.V183V	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	183					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CCGCCCAGGTGACGGGACAGT	0.577																																						ENST00000320477.9																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(547-549)gtG>gtA		cell death-inducing DFFA-like effector a							104.0	89.0	94.0					18																	12277158		2203	4300	6503	SO:0001819	synonymous_variant	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12277158G>A	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.549G>A	18.37:g.12277158G>A						CIDEA_ENST00000521296.1_3'UTR	p.V183V	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN			5	614	+			183					B0YIY7|Q6UPR7	Silent	SNP	ENST00000320477.9	37	c.549G>A	CCDS11856.1																																																																																				0.577	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		32	122	0	0	0	1	0	32	122				
MMP16	4325	broad.mit.edu	37	8	89339455	89339455	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:89339455G>C	ENST00000286614.6	-	0	262				RP11-586K2.1_ENST00000520849.1_RNA|RP11-586K2.1_ENST00000523254.1_RNA|MMP16_ENST00000544227.1_5'Flank|RP11-586K2.1_ENST00000521433.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)						chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TGCTTCAATGGATGGACGAGC	0.502																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81								matrix metallopeptidase 16 (membrane-inserted)							151.0	137.0	142.0					8																	89339455		2203	4300	6503			4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89339455G>C	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.-20C>G	8.37:g.89339455G>C						RP11-586K2.1_ENST00000523254.1_RNA		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			0	262	-								B2RAN7|Q14824|Q52H48	Translation_Start_Site	SNP	ENST00000286614.6	37		CCDS6246.1																																																																																				0.502	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		53	78	0	0	0	1	0	53	78				
GRIN2A	2903	broad.mit.edu	37	16	9858337	9858337	+	Missense_Mutation	SNP	G	G	A	rs560057284	byFrequency	TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:9858337G>A	ENST00000396573.2	-	14	3373	c.3064C>T	c.(3064-3066)Cgc>Tgc	p.R1022C	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1022C|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1022C|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1022C|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R865C|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1022C	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1022					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R1022C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAATCCTGGCGTATGGAATCC	0.532													G|||	2	0.000399361	0.0	0.0	5008	,	,		16566	0.002		0.0	False		,,,				2504	0.0					ENST00000396573.2																			1	Substitution - Missense(1)	p.R1022C(1)	endometrium(1)	NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3064-3066)Cgc>Tgc		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						107.0	113.0	111.0					16																	9858337		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858337G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3064C>T	16.37:g.9858337G>A	ENSP00000379818:p.Arg1022Cys					GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1022C|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1022C|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1022C|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R865C|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1022C	p.R1022C	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3373	-			1022					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3064C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587603	0.66105	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.13196	2.61;2.62;2.62;2.61;2.61	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.050105	0.85682	D	0.000000	T	0.37404	0.1002	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.964;0.998	T	0.03139	-1.1068	9	.	.	.	.	18.0262	0.89270	0.0:0.0:1.0:0.0	.	865;1022;1022	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	C	1022;1022;865;1022;1022	ENSP00000379818:R1022C;ENSP00000385872:R1022C;ENSP00000441572:R865C;ENSP00000332549:R1022C;ENSP00000379820:R1022C	.	R	-	1	0	GRIN2A	9765838	1.000000	0.71417	0.944000	0.38274	0.803000	0.45373	7.520000	0.81821	2.491000	0.84063	0.655000	0.94253	CGC		0.532	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			44	100	0	0	0	1	0	44	100				
ZNF184	7738	broad.mit.edu	37	6	27424635	27424635	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:27424635C>G	ENST00000211936.6	-	5	552	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	ZNF184_ENST00000377419.1_Missense_Mutation_p.E90Q	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGCTTGGCTCCATGATCCAT	0.443																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(268-270)Gag>Cag		zinc finger protein 184							149.0	131.0	137.0					6																	27424635		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27424635C>G	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.268G>C	6.37:g.27424635C>G	ENSP00000211936:p.Glu90Gln					ZNF184_ENST00000377419.1_Missense_Mutation_p.E90Q	p.E90Q	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			5	552	-			90			KRAB.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.268G>C	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686123	0.68157	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.08102	3.13;3.13	5.25	5.25	0.73442	Krueppel-associated box (1);	0.563879	0.16131	N	0.228188	T	0.04407	0.0121	L	0.54965	1.715	0.09310	N	1	B	0.17667	0.023	B	0.17722	0.019	T	0.16394	-1.0404	10	0.27082	T	0.32	.	14.5347	0.67953	0.0:1.0:0.0:0.0	.	90	Q99676	ZN184_HUMAN	Q	90	ENSP00000211936:E90Q;ENSP00000366636:E90Q	ENSP00000211936:E90Q	E	-	1	0	ZNF184	27532614	0.008000	0.16893	0.012000	0.15200	0.815000	0.46073	1.418000	0.34782	2.894000	0.99253	0.655000	0.94253	GAG		0.443	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		24	53	0	0	0	1	0	24	53				
CIC	23152	broad.mit.edu	37	19	42791373	42791373	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:42791373G>C	ENST00000575354.2	+	3	473	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	CIC_ENST00000572681.2_Missense_Mutation_p.E1054Q|CIC_ENST00000160740.3_Missense_Mutation_p.E145Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGTGAGACAGAGAGTGACCA	0.662			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3160-3162)Gag>Cag		capicua transcriptional repressor							33.0	32.0	33.0					19																	42791373		2203	4299	6502	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791373G>C	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.433G>C	19.37:g.42791373G>C	ENSP00000458663:p.Glu145Gln					CIC_ENST00000160740.3_Missense_Mutation_p.E145Q|CIC_ENST00000575354.2_Missense_Mutation_p.E145Q	p.E1054Q			Q96RK0	CIC_HUMAN			4	3228	+		Prostate(69;0.00682)	145			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3160G>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965140	0.53507	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	T	0.63757	0.2538	L	0.27053	0.805	0.41378	D	0.987536	D	0.71674	0.998	D	0.75484	0.986	T	0.68907	-0.5285	8	0.87932	D	0	-16.6418	13.9837	0.64321	0.0:0.0:1.0:0.0	.	145	Q96RK0	CIC_HUMAN	Q	145	.	ENSP00000160740:E145Q	E	+	1	0	CIC	47483213	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.201000	0.72124	2.154000	0.67381	0.485000	0.47835	GAG		0.662	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			7	36	0	0	0	1	0	7	36				
PRKDC	5591	broad.mit.edu	37	8	48855894	48855894	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:48855894G>C	ENST00000314191.2	-	10	897	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Q281E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	281					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTGCTAAACTGAGATGCATGC	0.413								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(841-843)Cag>Gag	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							49.0	48.0	49.0					8																	48855894		1951	4141	6092	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48855894G>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.841C>G	8.37:g.48855894G>C	ENSP00000313420:p.Gln281Glu					PRKDC_ENST00000338368.3_Missense_Mutation_p.Q281E|PRKDC_ENST00000523565.1_5'UTR	p.Q281E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			10	897	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	281					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.841C>G		.	.	.	.	.	.	.	.	.	.	G	25.6	4.656151	0.88056	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.68479	-0.09;-0.33	5.35	5.35	0.76521	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77994	0.4214	.	.	.	0.80722	D	1	P;D;P	0.55385	0.954;0.971;0.924	P;P;P	0.54924	0.764;0.695;0.585	T	0.80677	-0.1276	9	0.72032	D	0.01	.	19.0788	0.93173	0.0:0.0:1.0:0.0	.	281;281;281	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	E	281	ENSP00000313420:Q281E;ENSP00000345182:Q281E	ENSP00000313420:Q281E	Q	-	1	0	PRKDC	49018447	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	9.245000	0.95431	2.512000	0.84698	0.655000	0.94253	CAG		0.413	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	28	0	0	0	1	0	3	28				
SLC7A14	57709	broad.mit.edu	37	3	170216564	170216564	+	Silent	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:170216564G>C	ENST00000231706.5	-	4	966	c.651C>G	c.(649-651)ctC>ctG	p.L217L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	217					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCAGCACATTGAGAACATTGT	0.507																																						ENST00000231706.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(649-651)ctC>ctG		solute carrier family 7, member 14							136.0	118.0	124.0					3																	170216564		2203	4300	6503	SO:0001819	synonymous_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170216564G>C	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.651C>G	3.37:g.170216564G>C						CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.L217L	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		4	966	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		217					B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.651C>G	CCDS33892.1																																																																																				0.507	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		29	96	0	0	0	1	0	29	96				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			7	24	0	0	0	1	0	7	24				
MEF2C	4208	broad.mit.edu	37	5	88047711	88047711	+	Silent	SNP	A	A	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:88047711A>T	ENST00000437473.2	-	5	969	c.552T>A	c.(550-552)ccT>ccA	p.P184P	MEF2C_ENST00000510942.1_Silent_p.P184P|MEF2C_ENST00000504921.2_Silent_p.P184P|MEF2C_ENST00000340208.5_Silent_p.P202P|MEF2C_ENST00000514028.1_Silent_p.P184P|MEF2C_ENST00000424173.2_Silent_p.P182P|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000539796.1_Silent_p.P136P|MEF2C_ENST00000508569.1_Silent_p.P184P|MEF2C_ENST00000506554.1_Silent_p.P184P|MEF2C_ENST00000514015.1_Silent_p.P184P	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	184					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		GTGTTACACCAGGAGACATAC	0.483										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(550-552)ccT>ccA		myocyte enhancer factor 2C							298.0	290.0	293.0					5																	88047711		2032	4186	6218	SO:0001819	synonymous_variant	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88047711A>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.552T>A	5.37:g.88047711A>T		HNSCC(66;0.2)				MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000506554.1_Silent_p.P184P|MEF2C_ENST00000539796.1_Silent_p.P136P|MEF2C_ENST00000514015.1_Silent_p.P184P|MEF2C_ENST00000514028.1_Silent_p.P184P|MEF2C_ENST00000437473.2_Silent_p.P184P|MEF2C_ENST00000508569.1_Silent_p.P184P|MEF2C_ENST00000510942.1_Silent_p.P184P|MEF2C_ENST00000424173.2_Silent_p.P182P|MEF2C_ENST00000340208.5_Silent_p.P202P	p.P184P			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	5	1224	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	184					C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	ENST00000437473.2	37	c.552T>A	CCDS47245.1																																																																																				0.483	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		40	210	0	0	0	1	0	40	210				
NCOA1	8648	broad.mit.edu	37	2	24927966	24927966	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:24927966G>A	ENST00000406961.1	+	12	1613	c.961G>A	c.(961-963)Ggc>Agc	p.G321S	NCOA1_ENST00000407230.1_Missense_Mutation_p.G170S|NCOA1_ENST00000405141.1_Missense_Mutation_p.G321S|NCOA1_ENST00000348332.3_Missense_Mutation_p.G321S|NCOA1_ENST00000395856.3_Missense_Mutation_p.G321S|NCOA1_ENST00000538539.1_Missense_Mutation_p.G321S|NCOA1_ENST00000288599.5_Missense_Mutation_p.G321S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	321					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGACTCGTGGCACTGCCTC	0.423			T	PAX3	alveolar rhadomyosarcoma																																	ENST00000405141.1				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(961-963)Ggc>Agc		nuclear receptor coactivator 1							103.0	97.0	99.0					2																	24927966		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24927966G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.961G>A	2.37:g.24927966G>A	ENSP00000385216:p.Gly321Ser					NCOA1_ENST00000288599.5_Missense_Mutation_p.G321S|NCOA1_ENST00000538539.1_Missense_Mutation_p.G321S|NCOA1_ENST00000407230.1_Missense_Mutation_p.G170S|NCOA1_ENST00000406961.1_Missense_Mutation_p.G321S|NCOA1_ENST00000395856.3_Missense_Mutation_p.G321S|NCOA1_ENST00000348332.3_Missense_Mutation_p.G321S	p.G321S			Q15788	NCOA1_HUMAN			13	1672	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		321					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.961G>A	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042476	0.93685	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000407230;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	6.06	6.06	0.98353	.	0.095489	0.64402	D	0.000001	T	0.61800	0.2376	M	0.81112	2.525	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;1.0;0.989	D;D;D;D	0.91635	0.999;0.966;0.998;0.95	T	0.63065	-0.6720	10	0.87932	D	0	.	20.2348	0.98355	0.0:0.0:1.0:0.0	.	321;321;321;170	Q15788-3;Q15788;Q15788-2;B5MCN7	.;NCOA1_HUMAN;.;.	S	321;321;170;321;321;321;321	ENSP00000385216:G321S;ENSP00000385097:G321S;ENSP00000385195:G170S;ENSP00000444039:G321S;ENSP00000320940:G321S;ENSP00000288599:G321S;ENSP00000379197:G321S	ENSP00000288599:G321S	G	+	1	0	NCOA1	24781470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.828000	0.92047	2.880000	0.98712	0.650000	0.86243	GGC		0.423	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		28	77	0	0	0	1	0	28	77				
ZNF622	90441	broad.mit.edu	37	5	16465250	16465250	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:16465250C>T	ENST00000308683.2	-	1	651	c.525G>A	c.(523-525)gaG>gaA	p.E175E		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	175					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GGGGTGGTTTCTCACTCGGGT	0.632																																						ENST00000308683.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(523-525)gaG>gaA		zinc finger protein 622							66.0	77.0	73.0					5																	16465250		2203	4300	6503	SO:0001819	synonymous_variant	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465250C>T	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.525G>A	5.37:g.16465250C>T							p.E175E	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			1	651	-			175						Silent	SNP	ENST00000308683.2	37	c.525G>A	CCDS3886.1																																																																																				0.632	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		50	135	0	0	0	1	0	50	135				
WDR1	9948	broad.mit.edu	37	4	10099491	10099491	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:10099491A>C	ENST00000499869.2	-	5	595	c.402T>G	c.(400-402)gaT>gaG	p.D134E	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000382452.2_Missense_Mutation_p.D134E|WDR1_ENST00000502702.1_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	134					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AAGAGCCACTATCCCAGAGGA	0.488																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(400-402)gaT>gaG		WD repeat domain 1							52.0	50.0	51.0					4																	10099491		1982	4163	6145	SO:0001583	missense	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10099491A>C	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.402T>G	4.37:g.10099491A>C	ENSP00000427687:p.Asp134Glu					WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Missense_Mutation_p.D134E|WDR1_ENST00000382451.2_Intron	p.D134E	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	5	684	-			134					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Missense_Mutation	SNP	ENST00000499869.2	37	c.402T>G	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.745955	0.49151	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000508079	T;T;T	0.62788	1.46;1.46;-0.0	5.69	2.35	0.29111	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047146	0.85682	D	0.000000	T	0.53222	0.1783	M	0.71296	2.17	0.80722	D	1	P	0.46395	0.877	B	0.38106	0.265	T	0.49661	-0.8916	10	0.27785	T	0.31	-45.109	7.7658	0.28978	0.3553:0.0:0.6447:0.0	.	134	O75083	WDR1_HUMAN	E	134;134;138	ENSP00000427687:D134E;ENSP00000371890:D134E;ENSP00000425481:D138E	ENSP00000371890:D134E	D	-	3	2	WDR1	9708589	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.683000	0.46943	0.643000	0.30638	-0.290000	0.09829	GAT		0.488	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			7	33	0	0	0	1	0	7	33				
CMA1	1215	broad.mit.edu	37	14	24974771	24974771	+	Missense_Mutation	SNP	C	C	T	rs376938676		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:24974771C>T	ENST00000250378.3	-	5	724	c.695G>A	c.(694-696)cGa>cAa	p.R232Q	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.R121Q	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	232	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATGGGAGATTCGGGTGAAGAC	0.587																																						ENST00000250378.3																			0				kidney(1)|lung(8)|pancreas(1)|prostate(1)	11						c.(694-696)cGa>cAa		chymase 1, mast cell		C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	88.0	83.0	85.0		695	4.6	0.9	14		85	0,8600		0,0,4300	no	missense	CMA1	NM_001836.2	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	232/248	24974771	2,13004	2203	4300	6503	SO:0001583	missense	1215				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr14:24974771C>T		CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.695G>A	14.37:g.24974771C>T	ENSP00000250378:p.Arg232Gln					RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Missense_Mutation_p.R121Q	p.R232Q	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0271)	5	724	-			232			Peptidase S1.		B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Missense_Mutation	SNP	ENST00000250378.3	37	c.695G>A	CCDS9630.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175395	0.57692	4.54E-4	0.0	ENSG00000092009	ENST00000250378;ENST00000206446	T;T	0.62788	0.0;0.0	5.52	4.64	0.57946	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.47455	D	0.000225	T	0.70971	0.3285	L	0.56769	1.78	0.27142	N	0.961624	D	0.65815	0.995	P	0.61874	0.895	T	0.64976	-0.6280	10	0.59425	D	0.04	.	10.1863	0.43000	0.0:0.9113:0.0:0.0887	.	232	P23946	CMA1_HUMAN	Q	232;121	ENSP00000250378:R232Q;ENSP00000206446:R121Q	ENSP00000206446:R121Q	R	-	2	0	CMA1	24044611	0.101000	0.21875	0.896000	0.35187	0.191000	0.23601	0.741000	0.26202	1.585000	0.49928	0.655000	0.94253	CGA		0.587	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276535.2			24	140	0	0	0	1	0	24	140				
NPHS1	4868	broad.mit.edu	37	19	36340175	36340175	+	Missense_Mutation	SNP	C	C	T	rs115308424	byFrequency	TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:36340175C>T	ENST00000378910.5	-	7	802	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	NPHS1_ENST00000591817.1_5'Flank|NPHS1_ENST00000353632.6_Missense_Mutation_p.R268Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	268	Ig-like C2-type 3.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATTACCCCCTCGGGCCACGCA	0.662													C|||	29	0.00579073	0.0008	0.0	5008	,	,		17852	0.0198		0.0	False		,,,				2504	0.0082					ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(802-804)cGa>cAa		nephrosis 1, congenital, Finnish type (nephrin)		C	GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	31.0	29.0	30.0		803	0.3	0.4	19	dbSNP_132	30	0,8600		0,0,4300	yes	missense	NPHS1	NM_004646.3	43	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	possibly-damaging	268/1242	36340175	3,13003	2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36340175C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.803G>A	19.37:g.36340175C>T	ENSP00000368190:p.Arg268Gln					NPHS1_ENST00000353632.6_Missense_Mutation_p.R268Q	p.R268Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		7	802	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		268			Ig-like C2-type 3.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.803G>A	CCDS32996.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	C	10.13	1.266358	0.23136	6.81E-4	0.0	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.77229	-1.08;-1.08	5.0	0.315	0.15852	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.710904	0.13819	N	0.360529	T	0.49355	0.1552	N	0.16567	0.415	0.09310	N	0.999997	B	0.09022	0.002	B	0.12837	0.008	T	0.32079	-0.9920	10	0.15952	T	0.53	-1.8366	8.4851	0.33067	0.0:0.6211:0.0:0.3789	.	268	O60500	NPHN_HUMAN	Q	268	ENSP00000368190:R268Q;ENSP00000343634:R268Q	ENSP00000343634:R268Q	R	-	2	0	NPHS1	41032015	0.003000	0.15002	0.364000	0.25888	0.551000	0.35334	-0.794000	0.04584	0.052000	0.16007	-1.094000	0.02160	CGA		0.662	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			15	42	0	0	0	1	0	15	42				
SSBP2	23635	broad.mit.edu	37	5	80809449	80809449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:80809449G>A	ENST00000320672.4	-	5	580	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	SSBP2_ENST00000505980.1_Nonsense_Mutation_p.Q124*|SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000515395.1_Intron|SSBP2_ENST00000514493.1_Intron	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	124	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		CTGAGTACCTGAAAGAACCCT	0.423																																						ENST00000320672.4																		SSBP2/JAK2(4)	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						c.(370-372)Cag>Tag		single-stranded DNA binding protein 2							106.0	104.0	105.0					5																	80809449		2203	4300	6503	SO:0001587	stop_gained	23635				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	g.chr5:80809449G>A	AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.370C>T	5.37:g.80809449G>A	ENSP00000322977:p.Gln124*					SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000514493.1_Intron|SSBP2_ENST00000505980.1_Nonsense_Mutation_p.Q124*|SSBP2_ENST00000515395.1_Intron	p.Q124*	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)	5	580	-		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)	124			Pro-rich.		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Nonsense_Mutation	SNP	ENST00000320672.4	37	c.370C>T	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	G	38	7.175266	0.98114	.	.	ENSG00000145687	ENST00000320672;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000509013	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	0.0046	19.7917	0.96461	0.0:0.0:1.0:0.0	.	.	.	.	X	124;77;30;30;124;120	.	ENSP00000322977:Q124X	Q	-	1	0	SSBP2	80845205	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.405000	0.97313	2.685000	0.91497	0.650000	0.86243	CAG		0.423	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1	NM_012446		14	99	0	0	0	1	0	14	99				
TMEM129	92305	broad.mit.edu	37	4	1719932	1719932	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:1719932G>A	ENST00000382936.3	-	2	1120	c.627C>T	c.(625-627)ctC>ctT	p.L209L	TMEM129_ENST00000303277.2_Silent_p.L209L|TMEM129_ENST00000536901.1_Silent_p.L209L	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129, E3 ubiquitin protein ligase	209					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			GGATGGTGAGGAGCTGCACGG	0.637																																						ENST00000382936.3																			0				lung(2)	2						c.(625-627)ctC>ctT		transmembrane protein 129							70.0	49.0	56.0					4																	1719932		2200	4297	6497	SO:0001819	synonymous_variant	92305					integral to membrane		g.chr4:1719932G>A	BC009331	CCDS3351.1, CCDS46998.1	4p16.3	2014-07-25	2014-07-25		ENSG00000168936	ENSG00000168936			25137	protein-coding gene	gene with protein product		615975	"""transmembrane protein 129"""			24807418, 25030448	Standard	NM_138385		Approved	D4S2561E	uc003gdn.3	A0AVI4	OTTHUMG00000121150	ENST00000382936.3:c.627C>T	4.37:g.1719932G>A						TMEM129_ENST00000536901.1_Silent_p.L209L|TMEM129_ENST00000303277.2_Silent_p.L209L	p.L209L	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)		2	1120	-			209					A6NH49|A6NI98|D3DVP8	Silent	SNP	ENST00000382936.3	37	c.627C>T	CCDS46998.1																																																																																				0.637	TMEM129-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350724.1	NM_138385		3	12	0	0	0	1	0	3	12				
MTBP	27085	broad.mit.edu	37	8	121530188	121530188	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:121530188G>C	ENST00000305949.1	+	19	2389	c.2344G>C	c.(2344-2346)Gaa>Caa	p.E782Q		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	782	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GCCACAAACAGAACGGTCCTT	0.398																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2344-2346)Gaa>Caa		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							140.0	107.0	118.0					8																	121530188		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121530188G>C		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2344G>C	8.37:g.121530188G>C	ENSP00000303398:p.Glu782Gln						p.E782Q	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		19	2389	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		782			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.2344G>C	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701147	0.30142	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.55	1.26	0.21427	.	0.462579	0.25366	N	0.031184	T	0.43255	0.1239	M	0.71581	2.175	0.09310	N	0.999999	B	0.13145	0.007	B	0.17098	0.017	T	0.42137	-0.9469	9	0.52906	T	0.07	-13.3947	7.7777	0.29048	0.149:0.2445:0.6064:0.0	.	782	Q96DY7	MTBP_HUMAN	Q	782	.	ENSP00000303398:E782Q	E	+	1	0	MTBP	121599369	0.019000	0.18553	0.002000	0.10522	0.006000	0.05464	0.285000	0.18883	0.316000	0.23135	-0.244000	0.11960	GAA		0.398	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		4	80	0	0	0	1	0	4	80				
EXD3	54932	broad.mit.edu	37	9	140201526	140201526	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr9:140201526C>A	ENST00000340951.4	-	22	2702	c.2507G>T	c.(2506-2508)gGa>gTa	p.G836V	EXD3_ENST00000342129.4_Missense_Mutation_p.G474V	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GAAGACCTTTCCACAGCCCGT	0.697																																						ENST00000340951.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						c.(2506-2508)gGa>gTa		exonuclease 3'-5' domain containing 3							21.0	26.0	24.0					9																	140201526		2069	4226	6295	SO:0001583	missense	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140201526C>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.2507G>T	9.37:g.140201526C>A	ENSP00000340474:p.Gly836Val					EXD3_ENST00000342129.4_Missense_Mutation_p.G474V	p.G836V	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN			22	2702	-			836					Q6P1M1|Q8IXT8	Missense_Mutation	SNP	ENST00000340951.4	37	c.2507G>T	CCDS48066.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624255	0.46840	.	.	ENSG00000187609	ENST00000342129;ENST00000340951	T;T	0.75367	-0.93;-0.43	4.28	4.28	0.50868	.	.	.	.	.	D	0.85279	0.5660	M	0.78456	2.415	0.53688	D	0.999976	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.976	D	0.87417	0.2379	9	0.87932	D	0	.	13.4461	0.61142	0.0:1.0:0.0:0.0	.	474;836	Q8N9H8-3;Q8N9H8	.;MUT7_HUMAN	V	474;836	ENSP00000343705:G474V;ENSP00000340474:G836V	ENSP00000340474:G836V	G	-	2	0	EXD3	139321347	0.841000	0.29509	0.034000	0.17996	0.014000	0.08584	2.793000	0.47845	1.926000	0.55796	0.561000	0.74099	GGA		0.697	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		10	13	1	0	0.000673444	1	0.000694407	10	13				
SYT8	90019	broad.mit.edu	37	11	1857283	1857283	+	Intron	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:1857283G>A	ENST00000381968.3	+	4	527				SYT8_ENST00000436964.2_Silent_p.Q142Q|SYT8_ENST00000341958.3_Intron|SYT8_ENST00000483280.1_3'UTR|SYT8_ENST00000535046.1_Silent_p.Q294Q|TNNI2_ENST00000381911.1_5'Flank	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII						acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGAAGGGCAGACCCCATGCC	0.687																																						ENST00000535046.1																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						c.(880-882)caG>caA		synaptotagmin VIII																																				SO:0001627	intron_variant	90019					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity	g.chr11:1857283G>A	AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026	ENST00000381968.3:c.399+69G>A	11.37:g.1857283G>A						SYT8_ENST00000341958.3_Intron|SYT8_ENST00000483280.1_3'UTR|SYT8_ENST00000381968.3_Intron|SYT8_ENST00000436964.2_Silent_p.Q142Q	p.Q294Q			Q8NBV8	SYT8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	4	882	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	0			C2 2.		A6NFJ4|Q9NSV9	Silent	SNP	ENST00000381968.3	37	c.882G>A	CCDS7726.2																																																																																				0.687	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025013.4			3	18	0	0	0	1	0	3	18				
CSRP2BP	57325	broad.mit.edu	37	20	18143304	18143304	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr20:18143304C>T	ENST00000435364.3	+	6	1727	c.1386C>T	c.(1384-1386)ccC>ccT	p.P462P	CSRP2BP_ENST00000377681.3_Silent_p.P461P|CSRP2BP_ENST00000489634.2_Silent_p.P334P	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	462					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GGTATACTCCCGTGAGCATCT	0.512																																						ENST00000278816.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						c.(1384-1386)ccC>ccT		CSRP2 binding protein							61.0	62.0	62.0					20																	18143304		2203	4300	6503	SO:0001819	synonymous_variant	57325				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity	g.chr20:18143304C>T	AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1386C>T	20.37:g.18143304C>T						CSRP2BP_ENST00000435364.2_Silent_p.P462P|CSRP2BP_ENST00000377681.2_Silent_p.P461P|CSRP2BP_ENST00000489634.2_Silent_p.P334P	p.P462P			Q9H8E8	CSR2B_HUMAN			7	2036	+			462					A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	ENST00000435364.3	37	c.1386C>T	CCDS13133.1																																																																																				0.512	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		15	87	0	0	0	1	0	15	87				
SHANK2	22941	broad.mit.edu	37	11	70331687	70331687	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:70331687C>T	ENST00000423696.2	-	15	3610	c.3574G>A	c.(3574-3576)Gat>Aat	p.D1192N	SHANK2_ENST00000449833.2_Missense_Mutation_p.D976N|SHANK2_ENST00000409161.1_Missense_Mutation_p.D975N|SHANK2_ENST00000338508.4_Missense_Mutation_p.D1572N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1192					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTATCTACATCTTCTTCCACG	0.547																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4714-4716)Gat>Aat		SH3 and multiple ankyrin repeat domains 2							112.0	111.0	111.0					11																	70331687		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331687C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3574G>A	11.37:g.70331687C>T	ENSP00000394536:p.Asp1192Asn					SHANK2_ENST00000409161.1_Missense_Mutation_p.D975N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1192N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D976N	p.D1572N			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4713	-			1192					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4714G>A		.	.	.	.	.	.	.	.	.	.	C	10.94	1.493566	0.26774	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27	5.42	4.41	0.53225	.	0.389388	0.30043	N	0.010542	T	0.07143	0.0181	N	0.08118	0	0.80722	D	1	B;B;B	0.12630	0.001;0.006;0.001	B;B;B	0.14578	0.001;0.011;0.003	T	0.30149	-0.9988	10	0.30854	T	0.27	.	3.5007	0.07672	0.0:0.6382:0.0:0.3618	.	1192;1571;976	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	N	976;975;850;1572;1192;1210;1195	ENSP00000399423:D976N;ENSP00000386491:D975N;ENSP00000402944:D850N;ENSP00000345193:D1572N;ENSP00000394536:D1192N;ENSP00000294018:D1195N	ENSP00000294018:D1195N	D	-	1	0	SHANK2	70009335	1.000000	0.71417	0.970000	0.41538	0.989000	0.77384	2.296000	0.43584	2.549000	0.85964	0.655000	0.94253	GAT		0.547	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		133	1114	0	0	0	1	0	133	1114				
LPHN3	23284	broad.mit.edu	37	4	62453119	62453119	+	Missense_Mutation	SNP	G	G	A	rs184034371		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:62453119G>A	ENST00000514591.1	+	4	559	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	LPHN3_ENST00000514996.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000512091.2_Missense_Mutation_p.R77Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R145Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	77	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAGAATATCCGATGTTATCTG	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18535	0.0		0.0	False		,,,				2504	0.0					ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(229-231)cGa>cAa		latrophilin 3		G	GLN/ARG	0,3850		0,0,1925	84.0	84.0	84.0		230	5.4	1.0	4		84	1,8273		0,1,4136	no	missense	LPHN3	NM_015236.4	43	0,1,6061	AA,AG,GG		0.0121,0.0,0.0082	benign	77/1470	62453119	1,12123	1925	4137	6062	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62453119G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.230G>A	4.37:g.62453119G>A	ENSP00000422533:p.Arg77Gln					LPHN3_ENST00000506746.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R77Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R145Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R145Q	p.R77Q			Q9HAR2	LPHN3_HUMAN			4	977	+			77			SUEL-type lectin.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.230G>A	CCDS54768.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.470	0.454909	0.12283	0.0	1.21E-4	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34;2.34	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.16769	0.0403	N	0.01779	-0.725	0.36414	D	0.863905	P;D;P	0.69078	0.947;0.997;0.935	P;D;B	0.72982	0.518;0.979;0.162	T	0.43909	-0.9362	10	0.10902	T	0.67	.	18.5424	0.91033	0.0:0.0:1.0:0.0	.	77;145;77	E9PE04;E7EN28;Q9HAR2-2	.;.;.	Q	77;77;145;145;77;77;77;77;77;145;145;145;77;77;77;145;145;77	ENSP00000423388:R77Q;ENSP00000422533:R77Q;ENSP00000423787:R145Q;ENSP00000425033:R145Q;ENSP00000424120:R77Q;ENSP00000439831:R77Q;ENSP00000421476:R145Q;ENSP00000424030:R145Q;ENSP00000421372:R145Q;ENSP00000425201:R77Q;ENSP00000423434:R77Q;ENSP00000421627:R77Q;ENSP00000420931:R145Q;ENSP00000425884:R145Q;ENSP00000424258:R77Q	ENSP00000280009:R77Q	R	+	2	0	LPHN3	62135714	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	3.746000	0.55127	2.694000	0.91930	0.585000	0.79938	CGA		0.398	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			7	23	0	0	0	1	0	7	23				
MADD	8567	broad.mit.edu	37	11	47311465	47311465	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:47311465G>A	ENST00000311027.5	+	18	3029	c.2864G>A	c.(2863-2865)gGc>gAc	p.G955D	MADD_ENST00000342922.4_Missense_Mutation_p.G935D|MADD_ENST00000407859.3_Missense_Mutation_p.G912D|MADD_ENST00000406482.1_Missense_Mutation_p.G892D|MADD_ENST00000395344.3_Missense_Mutation_p.G892D|MADD_ENST00000402192.2_Missense_Mutation_p.G935D|MADD_ENST00000405573.2_5'Flank|MADD_ENST00000349238.3_Missense_Mutation_p.G955D|MADD_ENST00000395336.3_Missense_Mutation_p.G955D|MADD_ENST00000402799.1_Missense_Mutation_p.G892D	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGCTGGACGGCCAGGGAGTT	0.597																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(2803-2805)gGc>gAc		MAP-kinase activating death domain							56.0	47.0	50.0					11																	47311465		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47311465G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2864G>A	11.37:g.47311465G>A	ENSP00000310933:p.Gly955Asp					MADD_ENST00000407859.3_Missense_Mutation_p.G912D|MADD_ENST00000406482.1_Missense_Mutation_p.G892D|MADD_ENST00000395344.3_Missense_Mutation_p.G892D|MADD_ENST00000349238.3_Missense_Mutation_p.G955D|MADD_ENST00000311027.5_Missense_Mutation_p.G955D|MADD_ENST00000402799.1_Missense_Mutation_p.G892D|MADD_ENST00000402192.2_Missense_Mutation_p.G935D|MADD_ENST00000395336.3_Missense_Mutation_p.G955D	p.G935D	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	17	3161	+			955						Missense_Mutation	SNP	ENST00000311027.5	37	c.2804G>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	35	5.464418	0.96257	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.63417	0.31;0.01;-0.04;0.29;0.35;0.01;-0.03;0.31;0.31	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.74697	-0.3578	10	0.87932	D	0	-23.5175	19.7538	0.96281	0.0:0.0:1.0:0.0	.	892;892;955;892;892;892;955;912;955;935	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	D	935;892;892;892;955;955;912;892;955;935	ENSP00000343902:G935D;ENSP00000385585:G892D;ENSP00000384435:G892D;ENSP00000304505:G955D;ENSP00000310933:G955D;ENSP00000384204:G912D;ENSP00000378753:G892D;ENSP00000378745:G955D;ENSP00000384287:G935D	ENSP00000310933:G955D	G	+	2	0	MADD	47268041	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	7.610000	0.82949	2.769000	0.95229	0.563000	0.77884	GGC		0.597	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			8	39	0	0	0	1	0	8	39				
ITFG3	83986	broad.mit.edu	37	16	312193	312193	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:312193G>C	ENST00000399932.3	+	7	1261	c.810G>C	c.(808-810)agG>agC	p.R270S	ITFG3_ENST00000450082.2_Missense_Mutation_p.R270S|ITFG3_ENST00000301678.3_Missense_Mutation_p.R270S|ITFG3_ENST00000442458.2_Missense_Mutation_p.R270S|ITFG3_ENST00000600536.1_Missense_Mutation_p.R270S|ITFG3_ENST00000301679.2_Missense_Mutation_p.R270S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	270						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ACGTCACCAGGACAGGTGCCC	0.617																																						ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(808-810)agG>agC		integrin alpha FG-GAP repeat containing 3							57.0	63.0	61.0					16																	312193		2169	4270	6439	SO:0001583	missense	83986					integral to membrane		g.chr16:312193G>C	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.810G>C	16.37:g.312193G>C	ENSP00000382814:p.Arg270Ser					ITFG3_ENST00000450082.2_Missense_Mutation_p.R270S|ITFG3_ENST00000600536.1_Missense_Mutation_p.R270S|ITFG3_ENST00000301679.2_Missense_Mutation_p.R270S|ITFG3_ENST00000301678.3_Missense_Mutation_p.R270S|ITFG3_ENST00000442458.2_Missense_Mutation_p.R270S	p.R270S			Q9H0X4	ITFG3_HUMAN			7	1261	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	270					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.810G>C	CCDS10402.1	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302592	0.40795	.	.	ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000442458;ENST00000301678;ENST00000450082	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	4.87	-1.3	0.09259	Quinonprotein alcohol dehydrogenase-like (1);	0.469690	0.24759	N	0.035828	T	0.46132	0.1377	M	0.76838	2.35	0.09310	N	1	P;P	0.43633	0.813;0.774	B;B	0.44224	0.444;0.365	T	0.44892	-0.9298	10	0.11794	T	0.64	0.4192	4.8416	0.13492	0.2854:0.292:0.4225:0.0	.	270;270	Q9H0X4-2;Q9H0X4	.;ITFG3_HUMAN	S	270	ENSP00000382814:R270S;ENSP00000301679:R270S;ENSP00000397477:R270S;ENSP00000301678:R270S;ENSP00000411394:R270S	ENSP00000301678:R270S	R	+	3	2	ITFG3	252194	0.001000	0.12720	0.028000	0.17463	0.756000	0.42949	-0.068000	0.11561	-0.057000	0.13199	0.462000	0.41574	AGG		0.617	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		14	36	0	0	0	1	0	14	36				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	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			5	117	0	0	0	1	0	5	117				
ERBB2	2064	broad.mit.edu	37	17	37868215	37868215	+	Silent	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:37868215C>G	ENST00000269571.5	+	8	1095	c.936C>G	c.(934-936)acC>acG	p.T312T	ERBB2_ENST00000541774.1_Silent_p.T297T|ERBB2_ENST00000578199.1_Silent_p.T282T|ERBB2_ENST00000445658.2_Silent_p.T36T|ERBB2_ENST00000406381.2_Silent_p.T282T|ERBB2_ENST00000540147.1_Silent_p.T282T|ERBB2_ENST00000540042.1_Silent_p.T282T|ERBB2_ENST00000584450.1_Silent_p.T312T|ERBB2_ENST00000584601.1_Silent_p.T282T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	312					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GATCCTGCACCCTCGTCTGCC	0.572		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(844-846)acC>acG		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						231.0	188.0	203.0					17																	37868215		2203	4300	6503	SO:0001819	synonymous_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37868215C>G	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.936C>G	17.37:g.37868215C>G		TCGA GBM(5;<1E-08)				ERBB2_ENST00000541774.1_Silent_p.T297T|ERBB2_ENST00000540147.1_Silent_p.T282T|ERBB2_ENST00000445658.2_Silent_p.T36T|ERBB2_ENST00000269571.5_Silent_p.T312T|ERBB2_ENST00000578199.1_Silent_p.T282T|ERBB2_ENST00000540042.1_Silent_p.T282T|ERBB2_ENST00000584601.1_Silent_p.T282T|ERBB2_ENST00000584450.1_Silent_p.T312T	p.T282T	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	10	1356	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	312					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	c.846C>G	CCDS32642.1																																																																																				0.572	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			36	230	0	0	0	1	0	36	230				
EYA1	2138	broad.mit.edu	37	8	72129059	72129059	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:72129059G>C	ENST00000340726.3	-	14	1867	c.1228C>G	c.(1228-1230)Cct>Gct	p.P410A	EYA1_ENST00000419131.1_Missense_Mutation_p.P375A|EYA1_ENST00000388740.3_Missense_Mutation_p.P377A|EYA1_ENST00000388742.4_Missense_Mutation_p.P410A|EYA1_ENST00000388741.2_Missense_Mutation_p.P376A|EYA1_ENST00000388743.2_Missense_Mutation_p.P409A|EYA1_ENST00000303824.7_Missense_Mutation_p.P404A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	410					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCTGCAGCAGGAAAGCCATCT	0.433																																						ENST00000340726.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1228-1230)Cct>Gct		eyes absent homolog 1 (Drosophila)							123.0	113.0	116.0					8																	72129059		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72129059G>C	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.1228C>G	8.37:g.72129059G>C	ENSP00000342626:p.Pro410Ala					EYA1_ENST00000388743.2_Missense_Mutation_p.P409A|EYA1_ENST00000419131.1_Missense_Mutation_p.P375A|EYA1_ENST00000303824.7_Missense_Mutation_p.P404A|EYA1_ENST00000388742.4_Missense_Mutation_p.P410A|EYA1_ENST00000388741.2_Missense_Mutation_p.P376A|EYA1_ENST00000388740.3_Missense_Mutation_p.P377A	p.P410A	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		14	1867	-	Breast(64;0.046)		410					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.1228C>G	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935580	0.52866	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000388744;ENST00000388740;ENST00000303824;ENST00000388741;ENST00000388743;ENST00000419131	T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	5.34	5.34	0.76211	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.048216	0.85682	D	0.000000	T	0.66046	0.2750	N	0.04508	-0.205	0.80722	D	1	B;B;B;B;B	0.19706	0.038;0.003;0.001;0.038;0.003	B;B;B;B;B	0.23018	0.031;0.004;0.004;0.043;0.004	T	0.60974	-0.7156	10	0.35671	T	0.21	-10.8685	19.2408	0.93881	0.0:0.0:1.0:0.0	.	404;337;377;410;375	A6NCB9;Q0P517;Q99502-2;Q99502;G5E9R4	.;.;.;EYA1_HUMAN;.	A	410;410;378;377;404;376;409;375	ENSP00000373394:P410A;ENSP00000342626:P410A;ENSP00000373392:P377A;ENSP00000303221:P404A;ENSP00000373393:P376A;ENSP00000373395:P409A;ENSP00000410176:P375A	ENSP00000303221:P404A	P	-	1	0	EYA1	72291613	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.553000	0.98118	2.785000	0.95823	0.655000	0.94253	CCT		0.433	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		5	113	0	0	0	1	0	5	113				
ADCY8	114	broad.mit.edu	37	8	131922087	131922087	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:131922087C>G	ENST00000286355.5	-	6	3599	c.1507G>C	c.(1507-1509)Gat>Cat	p.D503H	ADCY8_ENST00000377928.3_Missense_Mutation_p.D503H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	503					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGTCAACATCGTGTTTTGTC	0.478										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1507-1509)Gat>Cat		adenylate cyclase 8 (brain)							198.0	150.0	166.0					8																	131922087		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131922087C>G	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1507G>C	8.37:g.131922087C>G	ENSP00000286355:p.Asp503His	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.D503H	p.D503H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		6	3599	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		503						Missense_Mutation	SNP	ENST00000286355.5	37	c.1507G>C	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203505	0.95033	.	.	ENSG00000155897	ENST00000286355;ENST00000377928;ENST00000522949	D;D;D	0.85556	-2.0;-2.0;-2.0	5.8	5.8	0.92144	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.92208	0.7529	M	0.73319	2.225	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.92292	0.5842	10	0.72032	D	0.01	.	19.0419	0.93004	0.0:1.0:0.0:0.0	.	503;503	E7EVL1;P40145	.;ADCY8_HUMAN	H	503;503;118	ENSP00000286355:D503H;ENSP00000367161:D503H;ENSP00000428010:D118H	ENSP00000286355:D503H	D	-	1	0	ADCY8	131991269	1.000000	0.71417	0.991000	0.47740	0.916000	0.54674	7.818000	0.86416	2.758000	0.94735	0.561000	0.74099	GAT		0.478	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			22	118	0	0	0	1	0	22	118				
MYO7B	4648	broad.mit.edu	37	2	128351213	128351213	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:128351213C>T	ENST00000409816.2	+	17	2270	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	MYO7B_ENST00000428314.1_Silent_p.F746F|MYO7B_ENST00000389524.4_Silent_p.F746F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	746	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAAAAATTTTCCTGAGGGTGA	0.607																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2236-2238)ttC>ttT		myosin VIIB							68.0	79.0	76.0					2																	128351213		2001	4167	6168	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128351213C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2238C>T	2.37:g.128351213C>T						MYO7B_ENST00000409816.2_Silent_p.F746F|MYO7B_ENST00000428314.1_Silent_p.F746F	p.F746F			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	18	2291	+	Colorectal(110;0.1)		746			IQ 1.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.2238C>T	CCDS46405.1																																																																																				0.607	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		16	109	0	0	0	1	0	16	109				
CRYBB1	1414	broad.mit.edu	37	22	26995607	26995607	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr22:26995607G>A	ENST00000215939.2	-	6	736	c.606C>T	c.(604-606)cgC>cgT	p.R202R	TPST2_ENST00000403880.1_5'Flank	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	202	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						ACTGGTACCCGCGGTAGCCAG	0.597																																						ENST00000215939.2																			0				breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						c.(604-606)cgC>cgT		crystallin, beta B1							50.0	44.0	46.0					22																	26995607		2203	4300	6503	SO:0001819	synonymous_variant	1414				visual perception		structural constituent of eye lens	g.chr22:26995607G>A		CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.606C>T	22.37:g.26995607G>A							p.R202R	NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN			6	736	-			202			Beta/gamma crystallin 'Greek key' 4.			Silent	SNP	ENST00000215939.2	37	c.606C>T	CCDS13840.1																																																																																				0.597	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320767.1	NM_001887		18	50	0	0	0	1	0	18	50				
PCDH1	5097	broad.mit.edu	37	5	141244793	141244793	+	Missense_Mutation	SNP	C	C	T	rs142395032		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:141244793C>T	ENST00000394536.3	-	3	1242	c.1103G>A	c.(1102-1104)aGt>aAt	p.S368N	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Missense_Mutation_p.S346N|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.S356N|PCDH1_ENST00000287008.3_Missense_Mutation_p.S368N	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	368	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGCACGGGCACTCTTGGGGTT	0.572																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(1102-1104)aGt>aAt		protocadherin 1		C	ASN/SER,ASN/SER	0,4406		0,0,2203	127.0	119.0	121.0		1103,1103	5.3	1.0	5	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PCDH1	NM_002587.3,NM_032420.2	46,46	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	368/1061,368/1238	141244793	1,13005	2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141244793C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1103G>A	5.37:g.141244793C>T	ENSP00000378043:p.Ser368Asn					PCDH1_ENST00000394536.3_Missense_Mutation_p.S368N|PCDH1_ENST00000536585.1_Missense_Mutation_p.S346N|PCDH1_ENST00000456271.1_Missense_Mutation_p.S356N|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron	p.S368N	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	1250	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	368			Cadherin 3.		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.1103G>A	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	23.9	4.469800	0.84533	0.0	1.16E-4	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.35	5.35	0.76521	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000018	T	0.63474	0.2514	M	0.73753	2.245	0.50467	D	0.999875	P;P	0.45768	0.866;0.837	P;B	0.51453	0.67;0.444	T	0.66901	-0.5806	10	0.72032	D	0.01	.	12.1961	0.54298	0.0:0.8288:0.1712:0.0	.	368;368	Q08174;Q08174-2	PCDH1_HUMAN;.	N	368;368;356;379;346	ENSP00000287008:S368N;ENSP00000378043:S368N;ENSP00000403497:S356N;ENSP00000350122:S379N;ENSP00000438825:S346N	ENSP00000287008:S368N	S	-	2	0	PCDH1	141224977	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	1.600000	0.36762	2.804000	0.96469	0.645000	0.84053	AGT		0.572	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		32	85	0	0	0	1	0	32	85				
LRRFIP1	9208	broad.mit.edu	37	2	238672203	238672203	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:238672203G>A	ENST00000392000.4	+	11	1964	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.R560K|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.R592K|LRRFIP1_ENST00000308482.9_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	616					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TCTACTGACAGAAAGTCAGCA	0.383																																						ENST00000244815.5																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1774-1776)aGa>aAa		leucine rich repeat (in FLII) interacting protein 1							51.0	52.0	52.0					2																	238672203		2203	4297	6500	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238672203G>A	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1847G>A	2.37:g.238672203G>A	ENSP00000375857:p.Arg616Lys					LRRFIP1_ENST00000392000.4_Missense_Mutation_p.R616K|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.R560K	p.R592K	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	10	2015	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	616			Lys-rich.		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.1775G>A	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	1.294	-0.606902	0.03717	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.06933	3.24;3.24;3.24	5.62	-5.14	0.02875	.	3.299350	0.01025	N	0.004054	T	0.02688	0.0081	N	0.01576	-0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.41840	-0.9486	10	0.07813	T	0.8	0.001	8.1341	0.31043	0.289:0.4024:0.3086:0.0	.	560;616;592	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	K	560;592;616	ENSP00000289175:R560K;ENSP00000244815:R592K;ENSP00000375857:R616K	ENSP00000244815:R592K	R	+	2	0	LRRFIP1	238336942	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.753000	0.04792	-0.922000	0.03789	-0.768000	0.03414	AGA		0.383	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		5	22	0	0	0	1	0	5	22				
AHNAK2	113146	broad.mit.edu	37	14	105410637	105410637	+	Silent	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:105410637G>C	ENST00000333244.5	-	7	11270	c.11151C>G	c.(11149-11151)ctC>ctG	p.L3717L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3717						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTGCTCTTTGAGGCCGGCTC	0.627																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11149-11151)ctC>ctG		AHNAK nucleoprotein 2							126.0	132.0	130.0					14																	105410637		1848	4092	5940	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105410637G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11151C>G	14.37:g.105410637G>C						AHNAK2_ENST00000557457.1_Intron	p.L3717L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11270	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3717					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11151C>G	CCDS45177.1																																																																																				0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		166	297	0	0	0	1	0	166	297				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					ENST00000358097.4																			0				endometrium(1)	1																																														1564							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA								0	449	-									RNA	SNP	ENST00000428786.1	37			30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			6	53	0	0	0	1	0	6	53				
ADAMTS3	9508	broad.mit.edu	37	4	73161471	73161471	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:73161471T>C	ENST00000286657.4	-	19	2659	c.2623A>G	c.(2623-2625)Aaa>Gaa	p.K875E		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	875	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTATCACTTTTCCTACGGCAT	0.373																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2623-2625)Aaa>Gaa		ADAM metallopeptidase with thrombospondin type 1 motif, 3							150.0	132.0	138.0					4																	73161471		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73161471T>C	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2623A>G	4.37:g.73161471T>C	ENSP00000286657:p.Lys875Glu						p.K875E	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		19	2659	-			875			TSP type-1 2.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2623A>G	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.516808	0.85495	.	.	ENSG00000156140	ENST00000286657	T	0.55760	0.5	5.14	5.14	0.70334	.	0.064020	0.64402	D	0.000010	T	0.60143	0.2246	L	0.54908	1.71	0.54753	D	0.99998	D	0.56287	0.975	P	0.56127	0.792	T	0.55891	-0.8069	10	0.17832	T	0.49	.	14.9595	0.71144	0.0:0.0:0.0:1.0	.	875	O15072	ATS3_HUMAN	E	875	ENSP00000286657:K875E	ENSP00000286657:K875E	K	-	1	0	ADAMTS3	73380335	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.997000	0.88414	1.927000	0.55829	0.528000	0.53228	AAA		0.373	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			9	57	0	0	0	1	0	9	57				
COL24A1	255631	broad.mit.edu	37	1	86591642	86591642	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:86591642C>G	ENST00000370571.2	-	3	743	c.377G>C	c.(376-378)aGa>aCa	p.R126T	COL24A1_ENST00000436319.1_Missense_Mutation_p.R126T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	126					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTTTTATTTCTAATGCTGAA	0.368																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(376-378)aGa>aCa		collagen, type XXIV, alpha 1							55.0	52.0	53.0					1																	86591642		1832	4094	5926	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86591642C>G	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.377G>C	1.37:g.86591642C>G	ENSP00000359603:p.Arg126Thr					COL24A1_ENST00000436319.1_Missense_Mutation_p.R126T	p.R126T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	743	-			126			TSP N-terminal.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.377G>C	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.152829	0.38021	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.20332	2.08;2.08	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.42294	D	0.000734	T	0.39860	0.1094	M	0.74881	2.28	0.35873	D	0.828362	D;D	0.76494	0.999;0.997	D;D	0.73380	0.98;0.976	T	0.12091	-1.0561	10	0.38643	T	0.18	.	19.0718	0.93140	0.0:1.0:0.0:0.0	.	126;126	F8WDM8;Q17RW2	.;COOA1_HUMAN	T	126	ENSP00000359603:R126T;ENSP00000392531:R126T	ENSP00000359603:R126T	R	-	2	0	COL24A1	86364230	0.989000	0.36119	1.000000	0.80357	0.987000	0.75469	1.811000	0.38942	2.751000	0.94390	0.655000	0.94253	AGA		0.368	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		15	39	0	0	0	1	0	15	39				
RDH11	51109	broad.mit.edu	37	14	68151846	68151846	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:68151846C>G	ENST00000381346.4	-	6	850	c.740G>C	c.(739-741)aGa>aCa	p.R247T	RDH11_ENST00000553384.1_Missense_Mutation_p.R234T|RDH11_ENST00000428130.2_Missense_Mutation_p.R177T|RP11-1012A1.4_ENST00000554493.1_5'UTR|RP11-1012A1.4_ENST00000553306.1_Missense_Mutation_p.D78H	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	247					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CCACATCCATCTCATGAAAGA	0.512																																						ENST00000381346.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12						c.(739-741)aGa>aCa		retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	Vitamin A(DB00162)						100.0	85.0	90.0					14																	68151846		2203	4300	6503	SO:0001583	missense	51109				retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr14:68151846C>G	AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	17964	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 1"", ""androgen-regulated short-chain dehydrogenase/reductase 1"""	607849	"""retinol dehydrogenase 11 (all-trans and 9-cis)"""			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.740G>C	14.37:g.68151846C>G	ENSP00000370750:p.Arg247Thr					RDH11_ENST00000553384.1_Missense_Mutation_p.R234T|RP11-1012A1.4_ENST00000554493.1_5'UTR|RDH11_ENST00000428130.2_Missense_Mutation_p.R177T|RP11-1012A1.4_ENST00000553306.1_Missense_Mutation_p.D78H	p.R247T	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN		all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	6	850	-			247					A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Missense_Mutation	SNP	ENST00000381346.4	37	c.740G>C	CCDS32104.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281859	0.40394	.	.	ENSG00000072042	ENST00000381346;ENST00000553384;ENST00000428130;ENST00000554035;ENST00000557273	D;D;D;D;D	0.87729	-1.79;-1.5;-1.88;-1.8;-2.29	5.07	-4.36	0.03645	NAD(P)-binding domain (1);	1.491660	0.04276	N	0.342923	T	0.73016	0.3533	N	0.12527	0.23	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.59947	-0.7358	10	0.15952	T	0.53	.	9.1918	0.37204	0.0:0.1538:0.2438:0.6024	.	177;234;247	B4DDW0;Q8TC12-2;Q8TC12	.;.;RDH11_HUMAN	T	247;234;177;133;160	ENSP00000370750:R247T;ENSP00000452079:R234T;ENSP00000416395:R177T;ENSP00000450802:R133T;ENSP00000450651:R160T	ENSP00000370750:R247T	R	-	2	0	RDH11	67221599	0.000000	0.05858	0.000000	0.03702	0.835000	0.47333	-0.537000	0.06128	-0.789000	0.04498	-0.218000	0.12543	AGA		0.512	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412257.3			9	75	0	0	0	1	0	9	75				
NBEA	26960	broad.mit.edu	37	13	36229032	36229032	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr13:36229032C>T	ENST00000400445.3	+	53	8547	c.8013C>T	c.(8011-8013)ctC>ctT	p.L2671L	NBEA_ENST00000537702.1_Silent_p.L464L|NBEA_ENST00000310336.4_Silent_p.L2671L|NBEA_ENST00000379922.3_Silent_p.L249L|NBEA_ENST00000540320.1_Silent_p.L2671L|NBEA_ENST00000379939.2_Silent_p.L2668L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2671					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCACAGACCTCGTTGACCAGA	0.368																																						ENST00000400445.3																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(8011-8013)ctC>ctT		neurobeachin							99.0	93.0	95.0					13																	36229032		1862	4093	5955	SO:0001819	synonymous_variant	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:36229032C>T	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8013C>T	13.37:g.36229032C>T						NBEA_ENST00000379939.2_Silent_p.L2668L|NBEA_ENST00000540320.1_Silent_p.L2671L|NBEA_ENST00000310336.4_Silent_p.L2671L|NBEA_ENST00000379922.3_Silent_p.L249L|NBEA_ENST00000537702.1_Silent_p.L464L	p.L2671L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	53	8547	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	2671					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	ENST00000400445.3	37	c.8013C>T	CCDS45026.1																																																																																				0.368	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		4	16	0	0	0	1	0	4	16				
GDNF	2668	broad.mit.edu	37	5	37815895	37815895	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:37815895C>G	ENST00000326524.2	-	3	693	c.494G>C	c.(493-495)aGa>aCa	p.R165T	GDNF_ENST00000515058.1_Missense_Mutation_p.R139T|GDNF_ENST00000427982.1_Missense_Mutation_p.R182T|GDNF_ENST00000381826.4_Missense_Mutation_p.R156T|GDNF_ENST00000344622.4_Missense_Mutation_p.R139T	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	165					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CCTTCTATTTCTGGATAAGTT	0.448																																						ENST00000326524.2																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(493-495)aGa>aCa		glial cell derived neurotrophic factor							117.0	114.0	115.0					5																	37815895		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37815895C>G		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.494G>C	5.37:g.37815895C>G	ENSP00000317145:p.Arg165Thr					GDNF_ENST00000344622.4_Missense_Mutation_p.R139T|GDNF_ENST00000381826.4_Missense_Mutation_p.R156T|GDNF_ENST00000427982.1_Missense_Mutation_p.R182T|GDNF_ENST00000515058.1_Missense_Mutation_p.R139T	p.R165T	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN			3	693	-	all_lung(31;0.00118)		165					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.494G>C	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371024	0.24771	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.76	-2.97	0.05530	Transforming growth factor-beta, C-terminal (3);	0.445560	0.27595	N	0.018675	T	0.66915	0.2838	L	0.29908	0.895	0.24973	N	0.991659	B;B;B;B	0.20671	0.009;0.007;0.047;0.018	B;B;B;B	0.24155	0.038;0.025;0.051;0.029	T	0.53229	-0.8468	10	0.14656	T	0.56	-5.993	8.9142	0.35572	0.1026:0.4911:0.0:0.4063	.	165;156;182;139	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	T	165;139;139;182;156	ENSP00000317145:R165T;ENSP00000339703:R139T;ENSP00000425928:R139T;ENSP00000409007:R182T;ENSP00000371248:R156T	ENSP00000317145:R165T	R	-	2	0	GDNF	37851652	0.999000	0.42202	0.007000	0.13788	0.980000	0.70556	0.533000	0.23082	-0.765000	0.04645	-0.136000	0.14681	AGA		0.448	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		21	112	0	0	0	1	0	21	112				
RYR2	6262	broad.mit.edu	37	1	237841360	237841360	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:237841360G>A	ENST00000366574.2	+	61	9160	c.8843G>A	c.(8842-8844)aGa>aAa	p.R2948K	RYR2_ENST00000360064.6_Missense_Mutation_p.R2946K|RYR2_ENST00000542537.1_Missense_Mutation_p.R2932K|RYR2_ENST00000609119.1_Intron	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2948					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|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)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGTGGCAGCAGAGGCAAAGGA	0.348																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(8842-8844)aGa>aAa		ryanodine receptor 2 (cardiac)							99.0	94.0	96.0					1																	237841360		1904	4120	6024	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237841360G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8843G>A	1.37:g.237841360G>A	ENSP00000355533:p.Arg2948Lys					RYR2_ENST00000360064.6_Missense_Mutation_p.R2946K|RYR2_ENST00000542537.1_Missense_Mutation_p.R2932K	p.R2948K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		61	9160	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2948			Modulator (Potential).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8843G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624650	0.66901	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;T	0.96491	-4.03;-4.0;-0.15	5.67	5.67	0.87782	.	0.077530	0.51477	D	0.000090	D	0.91314	0.7261	N	0.08118	0	0.80722	D	1	B	0.32160	0.358	B	0.28709	0.093	D	0.89968	0.4091	10	0.59425	D	0.04	.	19.774	0.96385	0.0:0.0:1.0:0.0	.	2948	Q92736	RYR2_HUMAN	K	2948;2946;2932	ENSP00000355533:R2948K;ENSP00000353174:R2946K;ENSP00000443798:R2932K	ENSP00000353174:R2946K	R	+	2	0	RYR2	235907983	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.209000	0.72171	2.679000	0.91253	0.591000	0.81541	AGA		0.348	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		3	10	0	0	0	1	0	3	10				
ABCA13	154664	broad.mit.edu	37	7	48311578	48311578	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:48311578C>G	ENST00000435803.1	+	17	2339	c.2315C>G	c.(2314-2316)tCt>tGt	p.S772C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	772					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AATATAAGTTCTCTGTGGACA	0.383																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(2314-2316)tCt>tGt		ATP-binding cassette, sub-family A (ABC1), member 13							49.0	46.0	47.0					7																	48311578		1820	4074	5894	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311578C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2315C>G	7.37:g.48311578C>G	ENSP00000411096:p.Ser772Cys						p.S772C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	2339	+			772					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2315C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	3.819	-0.038147	0.07497	.	.	ENSG00000179869	ENST00000435803	D	0.85556	-2.0	5.81	-4.52	0.03472	.	1.557490	0.04014	N	0.298744	T	0.66528	0.2798	N	0.08118	0	0.09310	N	1	P	0.36495	0.556	B	0.34038	0.174	T	0.60234	-0.7303	10	0.42905	T	0.14	.	4.8418	0.13494	0.27:0.2999:0.0:0.4301	.	772	Q86UQ4	ABCAD_HUMAN	C	772	ENSP00000411096:S772C	ENSP00000411096:S772C	S	+	2	0	ABCA13	48282124	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.182000	0.16900	-0.798000	0.04444	-1.377000	0.01181	TCT		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		3	26	0	0	0	1	0	3	26				
PRB1	5542	broad.mit.edu	37	12	11506284	11506284	+	Silent	SNP	A	A	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:11506284A>C	ENST00000500254.2	-	4	391	c.354T>G	c.(352-354)ccT>ccG	p.P118P	PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Silent_p.P118P	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGACCTTGAGGTTTGTTGC	0.617																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(352-354)ccT>ccG		proline-rich protein BstNI subfamily 1							96.0	117.0	110.0					12																	11506284		2087	4246	6333	SO:0001819	synonymous_variant	5542					extracellular region		g.chr12:11506284A>C		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.354T>G	12.37:g.11506284A>C						PRB1_ENST00000546254.1_Silent_p.P118P|PRB1_ENST00000545626.1_Intron	p.P118P	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		4	391	-			312		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	c.354T>G	CCDS8642.1																																																																																				0.617	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		30	247	0	0	0	1	0	30	247				
MFSD8	256471	broad.mit.edu	37	4	128865003	128865003	+	Missense_Mutation	SNP	C	C	T	rs183450731	byFrequency	TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:128865003C>T	ENST00000296468.3	-	5	470	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	MFSD8_ENST00000513559.1_Missense_Mutation_p.V70M|MFSD8_ENST00000541133.1_Missense_Mutation_p.V70M|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	115					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TTGGCTGCCACGGAAATCAAG	0.413													C|||	2	0.000399361	0.0	0.0	5008	,	,		17457	0.002		0.0	False		,,,				2504	0.0					ENST00000296468.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(343-345)Gtg>Atg		major facilitator superfamily domain containing 8							113.0	111.0	112.0					4																	128865003		2203	4300	6503	SO:0001583	missense	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128865003C>T	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.343G>A	4.37:g.128865003C>T	ENSP00000296468:p.Val115Met					MFSD8_ENST00000513559.1_Missense_Mutation_p.V70M|MFSD8_ENST00000541133.1_Missense_Mutation_p.V70M|MFSD8_ENST00000515130.1_5'UTR	p.V115M	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN			5	470	-			115					B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	ENST00000296468.3	37	c.343G>A	CCDS3736.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.47	3.397860	0.62177	.	.	ENSG00000164073	ENST00000296468;ENST00000513559;ENST00000541133	T;T;T	0.60040	0.22;0.22;0.22	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.132899	0.49916	D	0.000126	T	0.73590	0.3606	M	0.61703	1.905	0.47123	D	0.999326	D;D;D	0.89917	0.989;0.999;1.0	P;P;D	0.76575	0.825;0.876;0.988	T	0.70952	-0.4732	10	0.32370	T	0.25	-13.3284	18.725	0.91711	0.0:1.0:0.0:0.0	.	70;115;115	B7Z2B2;B7Z280;Q8NHS3	.;.;MFSD8_HUMAN	M	115;70;70	ENSP00000296468:V115M;ENSP00000425000:V70M;ENSP00000439616:V70M	ENSP00000296468:V115M	V	-	1	0	MFSD8	129084453	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	3.396000	0.52565	2.411000	0.81874	0.551000	0.68910	GTG		0.413	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		17	88	0	0	0	1	0	17	88				
EPHA2	1969	broad.mit.edu	37	1	16456789	16456789	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:16456789G>A	ENST00000358432.5	-	15	2755	c.2601C>T	c.(2599-2601)atC>atT	p.I867I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	867	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.I867I(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GGATGCTGACGATGTCAGCGA	0.622																																						ENST00000358432.5																			1	Substitution - coding silent(1)	p.I867I(1)	breast(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2599-2601)atC>atT		EPH receptor A2	Dasatinib(DB01254)						87.0	81.0	83.0					1																	16456789		2203	4300	6503	SO:0001819	synonymous_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16456789G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2601C>T	1.37:g.16456789G>A							p.I867I	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	15	2755	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	867			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.		B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	c.2601C>T	CCDS169.1																																																																																				0.622	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		14	66	0	0	0	1	0	14	66				
THBS2	7058	broad.mit.edu	37	6	169623544	169623544	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:169623544C>G	ENST00000366787.3	-	19	3049	c.2800G>C	c.(2800-2802)Gat>Cat	p.D934H	THBS2_ENST00000488355.1_5'Flank|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	934					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCAAAATCATCTTTACAAATA	0.413																																					Esophageal Squamous(91;219 1934 18562 44706)	ENST00000366787.3																			0				NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111						c.(2800-2802)Gat>Cat		thrombospondin 2							125.0	110.0	115.0					6																	169623544		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169623544C>G		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2800G>C	6.37:g.169623544C>G	ENSP00000355751:p.Asp934His					XXyac-YX65C7_A.2_ENST00000444188.1_RNA	p.D934H	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	19	3049	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	934					A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.2800G>C	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924803	0.52759	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.98437	-4.93	4.73	3.86	0.44501	.	0.000000	0.42294	U	0.000723	D	0.98635	0.9543	M	0.87547	2.89	0.45005	D	0.998023	D	0.65815	0.995	D	0.67900	0.954	D	0.99072	1.0834	10	0.66056	D	0.02	-29.1269	12.9363	0.58316	0.0:0.9206:0.0:0.0794	.	934	P35442	TSP2_HUMAN	H	934;192	ENSP00000355751:D934H	ENSP00000355751:D934H	D	-	1	0	THBS2	169365469	1.000000	0.71417	0.044000	0.18714	0.732000	0.41865	5.405000	0.66351	0.965000	0.38133	0.471000	0.43371	GAT		0.413	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		22	73	0	0	0	1	0	22	73				
SLC13A1	6561	broad.mit.edu	37	7	122757637	122757637	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:122757637A>T	ENST00000194130.2	-	14	1577	c.1538T>A	c.(1537-1539)cTt>cAt	p.L513H	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	513					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAGAATATAAAGAGGGTTCAC	0.348																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(1537-1539)cTt>cAt		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						100.0	94.0	96.0					7																	122757637		2203	4300	6503	SO:0001583	missense	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122757637A>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1538T>A	7.37:g.122757637A>T	ENSP00000194130:p.Leu513His					SLC13A1_ENST00000539873.1_3'UTR	p.L513H	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			14	1577	-			513					Q9H5Z0	Missense_Mutation	SNP	ENST00000194130.2	37	c.1538T>A	CCDS5786.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749913	0.69533	.	.	ENSG00000081800	ENST00000194130	T	0.03358	3.96	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49000	-0.8984	10	0.87932	D	0	-25.1478	14.6886	0.69068	1.0:0.0:0.0:0.0	.	513;513	A4D0X1;Q9BZW2	.;S13A1_HUMAN	H	513	ENSP00000194130:L513H	ENSP00000194130:L513H	L	-	2	0	SLC13A1	122544873	1.000000	0.71417	0.990000	0.47175	0.411000	0.31082	8.946000	0.92992	2.123000	0.65237	0.460000	0.39030	CTT		0.348	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		4	47	0	0	0	1	0	4	47				
ZMIZ1	57178	broad.mit.edu	37	10	81072505	81072505	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:81072505G>A	ENST00000334512.5	+	25	3775	c.3203G>A	c.(3202-3204)tGa>tAa	p.*1068*	ZMIZ1_ENST00000446377.2_Silent_p.*134*	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	0					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GAGAACAACTGAGGGCCACCC	0.597																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(3202-3204)tGa>tAa		zinc finger, MIZ-type containing 1							105.0	101.0	102.0					10																	81072505		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072505G>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3203G>A	10.37:g.81072505G>A						ZMIZ1_ENST00000446377.2_Silent_p.*134*	p.*1068*	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3775	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		0					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.3203G>A	CCDS7357.1																																																																																				0.597	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		48	109	0	0	0	1	0	48	109				
SPTLC1	10558	broad.mit.edu	37	9	94794750	94794750	+	Silent	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr9:94794750G>C	ENST00000262554.2	-	15	1424	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	473					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	ACTCTGCCTAGAGCAGGACGG	0.582																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(1417-1419)ctC>ctG		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						142.0	114.0	123.0					9																	94794750		2203	4300	6503	SO:0001819	synonymous_variant	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94794750G>C	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1419C>G	9.37:g.94794750G>C							p.L473L	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			15	1424	-			473					A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	37	c.1419C>G	CCDS6692.1																																																																																				0.582	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		10	66	0	0	0	1	0	10	66				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	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			5	109	0	0	0	1	0	5	109				
ANKMY1	51281	broad.mit.edu	37	2	241494435	241494435	+	5'UTR	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:241494435C>T	ENST00000272972.3	-	0	131				ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000536462.1_Missense_Mutation_p.A15T|ANKMY1_ENST00000401804.1_Missense_Mutation_p.A62T|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000403283.1_Missense_Mutation_p.A141T|ANKMY1_ENST00000373318.2_Missense_Mutation_p.A62T|ANKMY1_ENST00000406958.1_Missense_Mutation_p.A62T|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000361678.4_Missense_Mutation_p.A62T|ANKMY1_ENST00000405523.3_Missense_Mutation_p.A62T	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1								metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGGCCCTCAGCTTCCTCCTCT	0.592																																						ENST00000401804.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(184-186)Gct>Act		ankyrin repeat and MYND domain containing 1							100.0	103.0	102.0					2																	241494435		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51281						zinc ion binding	g.chr2:241494435C>T	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.-84G>A	2.37:g.241494435C>T						ANKMY1_ENST00000403283.1_Missense_Mutation_p.A141T|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000405523.3_Missense_Mutation_p.A62T|ANKMY1_ENST00000361678.4_Missense_Mutation_p.A62T|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000406958.1_Missense_Mutation_p.A62T|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000536462.1_Missense_Mutation_p.A15T|ANKMY1_ENST00000272972.3_5'UTR|ANKMY1_ENST00000373318.2_Missense_Mutation_p.A62T|ANKMY1_ENST00000462004.1_5'UTR	p.A62T			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	3	322	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	0					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.184G>A	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	C	6.283	0.420296	0.11928	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000361678;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000441168;ENST00000411765	T;T;T;T;T;T;T;T	0.55930	2.9;3.59;2.22;2.44;0.49;2.24;2.21;1.52	3.43	-5.58	0.02512	.	.	.	.	.	T	0.25005	0.0607	N	0.08118	0	0.09310	N	1	B;B;B	0.15473	0.002;0.008;0.013	B;B;B	0.17098	0.004;0.004;0.017	T	0.16660	-1.0395	9	0.28530	T	0.3	.	5.8576	0.18728	0.2585:0.4514:0.2901:0.0	.	62;62;62	Q6GPI0;B5MBY4;Q9P2S6-2	.;.;.	T	62;62;62;141;62;15;62;15;62	ENSP00000362415:A62T;ENSP00000384555:A62T;ENSP00000355097:A62T;ENSP00000383968:A141T;ENSP00000385887:A62T;ENSP00000444707:A15T;ENSP00000385635:A62T;ENSP00000405938:A15T	ENSP00000355097:A62T	A	-	1	0	ANKMY1	241143108	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.248000	0.08854	-1.196000	0.02676	-1.224000	0.01588	GCT		0.592	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		34	91	0	0	0	1	0	34	91				
PLCB2	5330	broad.mit.edu	37	15	40588791	40588791	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:40588791C>T	ENST00000260402.3	-	15	1780	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	PLCB2_ENST00000456256.2_Missense_Mutation_p.E511K|PLCB2_ENST00000557821.1_Missense_Mutation_p.E507K	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	511	Glu-rich.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		tcttcctcttccacctcctcc	0.597																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(1531-1533)Gaa>Aaa		phospholipase C, beta 2							55.0	65.0	62.0					15																	40588791		2142	4258	6400	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40588791C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1531G>A	15.37:g.40588791C>T	ENSP00000260402:p.Glu511Lys					PLCB2_ENST00000456256.2_Missense_Mutation_p.E511K|PLCB2_ENST00000557821.1_Missense_Mutation_p.E507K	p.E511K	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	15	1780	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	511			Glu-rich.		A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.1531G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931513	0.34096	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.52295	0.67;0.67	4.26	3.35	0.38373	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.660669	0.15614	N	0.253250	T	0.24699	0.0599	N	0.14661	0.345	0.80722	D	1	B;B;B	0.25521	0.094;0.128;0.015	B;B;B	0.22386	0.037;0.039;0.011	T	0.04693	-1.0933	10	0.06757	T	0.87	.	8.4182	0.32683	0.0:0.8194:0.0:0.1806	.	511;507;511	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	K	511	ENSP00000260402:E511K;ENSP00000411991:E511K	ENSP00000260402:E511K	E	-	1	0	PLCB2	38376083	0.018000	0.18449	0.794000	0.32065	0.947000	0.59692	0.902000	0.28459	1.017000	0.39495	-0.140000	0.14226	GAA		0.597	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			5	34	0	0	0	1	0	5	34				
TACC2	10579	broad.mit.edu	37	10	123970124	123970124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:123970124C>T	ENST00000369005.1	+	9	6524	c.6184C>T	c.(6184-6186)Cag>Tag	p.Q2062*	TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000453444.2_Nonsense_Mutation_p.Q2066*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.Q208*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.Q2017*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.Q208*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.Q2066*|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000334433.3_Nonsense_Mutation_p.Q2062*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.Q140*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.Q140*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.Q140*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.Q140*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2062					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCTAAGAATCAGGAGGGCAA	0.532																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6184-6186)Cag>Tag		transforming, acidic coiled-coil containing protein 2							134.0	119.0	124.0					10																	123970124		2203	4300	6503	SO:0001587	stop_gained	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970124C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6184C>T	10.37:g.123970124C>T	ENSP00000358001:p.Gln2062*					TACC2_ENST00000453444.2_Nonsense_Mutation_p.Q2066*|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000368999.1_Nonsense_Mutation_p.Q140*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.Q208*|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000513429.1_Nonsense_Mutation_p.Q208*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.Q2066*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.Q140*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.Q2017*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.Q140*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.Q140*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.Q2062*	p.Q2062*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	6524	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2062					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Nonsense_Mutation	SNP	ENST00000369005.1	37	c.6184C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431362	0.96150	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539	.	.	.	5.5	4.59	0.56863	.	0.237600	0.22018	N	0.065770	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-8.129	12.027	0.53375	0.0:0.9207:0.0:0.0793	.	.	.	.	X	2062;208;2066;2017;2062;208;2066;2052;140;140;140;140;157	.	ENSP00000260733:Q140X	Q	+	1	0	TACC2	123960114	0.948000	0.32251	0.933000	0.37362	0.228000	0.25075	1.943000	0.40253	2.576000	0.86940	0.655000	0.94253	CAG		0.532	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			25	68	0	0	0	1	0	25	68				
SYT11	23208	broad.mit.edu	37	1	155837784	155837784	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:155837784C>T	ENST00000368324.4	+	2	316	c.63C>T	c.(61-63)atC>atT	p.I21I	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	21					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCGGCCTCATCGGGGCCTCTG	0.582																																						ENST00000368324.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(61-63)atC>atT		synaptotagmin XI							67.0	67.0	67.0					1																	155837784		2203	4300	6503	SO:0001819	synonymous_variant	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155837784C>T	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.63C>T	1.37:g.155837784C>T						SYT11_ENST00000539162.1_Intron	p.I21I	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	316	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		21					Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Silent	SNP	ENST00000368324.4	37	c.63C>T	CCDS1122.1																																																																																				0.582	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		7	57	0	0	0	1	0	7	57				
CCDC138	165055	broad.mit.edu	37	2	109489982	109489982	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:109489982C>T	ENST00000295124.4	+	14	1829	c.1769C>T	c.(1768-1770)cCt>cTt	p.P590L	CCDC138_ENST00000412964.2_Intron	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	590										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CTTCGAGCCCCTAAGCTTGAT	0.338																																						ENST00000295124.4																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(1768-1770)cCt>cTt		coiled-coil domain containing 138							64.0	66.0	66.0					2																	109489982		2203	4300	6503	SO:0001583	missense	165055							g.chr2:109489982C>T	AK057307	CCDS2080.1	2q13	2008-02-05			ENSG00000163006	ENSG00000163006			26531	protein-coding gene	gene with protein product						12477932	Standard	NM_144978		Approved	FLJ32745	uc002ten.1	Q96M89	OTTHUMG00000130980	ENST00000295124.4:c.1769C>T	2.37:g.109489982C>T	ENSP00000295124:p.Pro590Leu					CCDC138_ENST00000412964.2_Intron	p.P590L	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN			14	1829	+			590					Q05DF1|Q4ZG07|Q53TE1|Q6ZUY5|Q86VL7	Missense_Mutation	SNP	ENST00000295124.4	37	c.1769C>T	CCDS2080.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466026	0.84425	.	.	ENSG00000163006	ENST00000295124	T	0.41065	1.01	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.68629	-0.5358	10	0.87932	D	0	-17.1338	18.6043	0.91261	0.0:1.0:0.0:0.0	.	590	Q96M89	CC138_HUMAN	L	590	ENSP00000295124:P590L	ENSP00000295124:P590L	P	+	2	0	CCDC138	108856414	0.997000	0.39634	0.995000	0.50966	0.986000	0.74619	5.574000	0.67424	2.575000	0.86900	0.655000	0.94253	CCT		0.338	CCDC138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253593.1	NM_144978		6	42	0	0	0	1	0	6	42				
HSPA1L	3305	broad.mit.edu	37	6	31779372	31779372	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:31779372C>G	ENST00000375654.4	-	2	567	c.378G>C	c.(376-378)ttG>ttC	p.L126F	HSPA1L_ENST00000417199.3_Missense_Mutation_p.L126F	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	126					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TCAACTTAGTCAATACCATCG	0.463																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(376-378)ttG>ttC		heat shock 70kDa protein 1-like							92.0	91.0	91.0					6																	31779372		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31779372C>G	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.378G>C	6.37:g.31779372C>G	ENSP00000364805:p.Leu126Phe					HSPA1L_ENST00000417199.3_Missense_Mutation_p.L126F	p.L126F	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	567	-			126					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.378G>C	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	8.037	0.762963	0.15914	.	.	ENSG00000204390	ENST00000375654;ENST00000417199	T;T	0.12039	2.72;2.72	4.54	0.625	0.17665	.	.	.	.	.	T	0.36358	0.0964	H	0.99104	4.43	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.06954	-1.0798	9	0.87932	D	0	.	2.7091	0.05169	0.148:0.5379:0.1437:0.1705	.	126	P34931	HS71L_HUMAN	F	126	ENSP00000364805:L126F;ENSP00000387691:L126F	ENSP00000364805:L126F	L	-	3	2	HSPA1L	31887351	0.059000	0.20769	0.882000	0.34594	0.051000	0.14879	-0.548000	0.06048	-0.081000	0.12662	-1.546000	0.00904	TTG		0.463	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			8	46	0	0	0	1	0	8	46				
GOLGA6L3	100133220	broad.mit.edu	37	15	83014132	83014132	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:83014132C>G	ENST00000557886.1	-	6	550	c.451G>C	c.(451-453)Gag>Cag	p.E151Q															p.E151Q(4)		endometrium(6)|kidney(5)|prostate(1)	12						GCTGGGGGCTCTGGGGCCAGG	0.522																																						ENST00000557886.1																			4	Substitution - Missense(4)	p.E151Q(4)	kidney(4)	endometrium(6)|kidney(5)|prostate(1)	12						c.(451-453)Gag>Cag																																						SO:0001583	missense	100133220							g.chr15:83014132C>G																												ENST00000557886.1:c.451G>C	15.37:g.83014132C>G	ENSP00000452844:p.Glu151Gln						p.E151Q							6	550	-									Missense_Mutation	SNP	ENST00000557886.1	37	c.451G>C																																																																																					0.522	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1			3	9	0	0	0	1	0	3	9				
OR2M3	127062	broad.mit.edu	37	1	248367272	248367272	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:248367272C>G	ENST00000456743.1	+	1	941	c.903C>G	c.(901-903)ttC>ttG	p.F301L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCAGAGCATTCATGAAGATCT	0.428																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(901-903)ttC>ttG		olfactory receptor, family 2, subfamily M, member 3							112.0	106.0	108.0					1																	248367272		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367272C>G		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.903C>G	1.37:g.248367272C>G	ENSP00000389625:p.Phe301Leu						p.F301L	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	941	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		301					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.903C>G	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.738639	0.00681	.	.	ENSG00000228198	ENST00000456743	T	0.34072	1.38	2.7	-2.95	0.05564	.	.	.	.	.	T	0.08088	0.0202	N	0.00385	-1.57	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40346	-0.9568	9	0.02654	T	1	.	10.4858	0.44722	0.1198:0.3137:0.5665:0.0	.	301	Q8NG83	OR2M3_HUMAN	L	301	ENSP00000389625:F301L	ENSP00000389625:F301L	F	+	3	2	OR2M3	246433895	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.111000	0.10807	-0.306000	0.08818	-0.277000	0.10078	TTC		0.428	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		36	93	0	0	0	1	0	36	93				
SIM1	6492	broad.mit.edu	37	6	100911253	100911253	+	Missense_Mutation	SNP	G	G	A	rs375766542		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:100911253G>A	ENST00000369208.3	-	2	874	c.92C>T	c.(91-93)tCg>tTg	p.S31L	SIM1_ENST00000262901.4_Missense_Mutation_p.S31L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	31	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S31L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTGATAGCCGAGGGCAAAGG	0.458																																						ENST00000369208.3																			1	Substitution - Missense(1)	p.S31L(1)	endometrium(1)	breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(91-93)tCg>tTg		single-minded family bHLH transcription factor 1							186.0	183.0	184.0					6																	100911253		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100911253G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.92C>T	6.37:g.100911253G>A	ENSP00000358210:p.Ser31Leu					SIM1_ENST00000262901.4_Missense_Mutation_p.S31L	p.S31L			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	2	874	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	31			Helix-loop-helix motif.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.92C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548061	0.96488	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	D;D	0.97976	-4.64;-4.64	6.17	6.17	0.99709	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.95468	0.8528	N	0.24115	0.695	0.80722	D	1	P	0.52061	0.95	P	0.48030	0.564	D	0.95278	0.8383	10	0.54805	T	0.06	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	31	P81133	SIM1_HUMAN	L	31	ENSP00000358210:S31L;ENSP00000262901:S31L	ENSP00000262901:S31L	S	-	2	0	SIM1	101017974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCG		0.458	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		16	83	0	0	0	1	0	16	83				
TGM4	7047	broad.mit.edu	37	3	44938204	44938204	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:44938204G>C	ENST00000296125.4	+	6	621	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	185					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AAAATAGTTTGAGAAAAATGT	0.493																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(553-555)Gag>Cag		transglutaminase 4	L-Glutamine(DB00130)						93.0	92.0	92.0					3																	44938204		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44938204G>C	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.553G>C	3.37:g.44938204G>C	ENSP00000296125:p.Glu185Gln						p.E185Q	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	6	621	+			185					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.553G>C	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299897	0.81136	.	.	ENSG00000163810	ENST00000296125	D	0.86097	-2.07	2.43	2.43	0.29744	.	0.000000	0.44902	U	0.000414	D	0.89501	0.6733	M	0.79926	2.475	0.51482	D	0.999925	D	0.61080	0.989	P	0.55615	0.78	D	0.90955	0.4808	10	0.72032	D	0.01	.	13.1269	0.59360	0.0:0.0:1.0:0.0	.	185	P49221	TGM4_HUMAN	Q	185	ENSP00000296125:E185Q	ENSP00000296125:E185Q	E	+	1	0	TGM4	44913208	1.000000	0.71417	0.809000	0.32408	0.706000	0.40770	2.673000	0.46858	1.280000	0.44463	0.467000	0.42956	GAG		0.493	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		14	36	0	0	0	1	0	14	36				
ITGA8	8516	broad.mit.edu	37	10	15689001	15689001	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:15689001C>T	ENST00000378076.3	-	12	1404	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	351					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGGTTGCTCTCAAATTCACGT	0.507																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1051-1053)Gag>Aag		integrin, alpha 8							115.0	103.0	107.0					10																	15689001		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15689001C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1051G>A	10.37:g.15689001C>T	ENSP00000367316:p.Glu351Lys						p.E351K	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			12	1404	-			351					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1051G>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	34	5.347057	0.95807	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.70282	-0.47	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.82742	0.5103	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81602	-0.0858	10	0.40728	T	0.16	.	19.063	0.93100	0.0:1.0:0.0:0.0	.	336;351	F5H818;P53708	.;ITA8_HUMAN	K	351;336	ENSP00000367316:E351K	ENSP00000367316:E351K	E	-	1	0	ITGA8	15729007	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	5.999000	0.70665	2.491000	0.84063	0.563000	0.77884	GAG		0.507	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		28	45	0	0	0	1	0	28	45				
VCAN	1462	broad.mit.edu	37	5	82837879	82837879	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:82837879C>T	ENST00000265077.3	+	8	9622	c.9057C>T	c.(9055-9057)atC>atT	p.I3019I	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.I2032I|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3019	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAGCTTTAATCAGAGGGCAGG	0.473																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(9055-9057)atC>atT		versican							78.0	82.0	80.0					5																	82837879		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82837879C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9057C>T	5.37:g.82837879C>T						VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.I2032I|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA	p.I3019I	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	9622	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3019			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.9057C>T	CCDS4060.1																																																																																				0.473	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		30	57	0	0	0	1	0	30	57				
ZKSCAN4	387032	broad.mit.edu	37	6	28212905	28212905	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:28212905G>C	ENST00000377294.2	-	5	1870	c.1627C>G	c.(1627-1629)Ctt>Gtt	p.L543V	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.L388V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	543					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CACTGTGAAAGAGTTTTTTTC	0.443																																						ENST00000377294.2																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(1627-1629)Ctt>Gtt		zinc finger with KRAB and SCAN domains 4							153.0	139.0	144.0					6																	28212905		2203	4300	6503	SO:0001583	missense	387032				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28212905G>C	AK056698	CCDS4647.1	6p21	2013-01-09	2007-02-20	2007-02-20	ENSG00000187626	ENSG00000187626		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13854	protein-coding gene	gene with protein product		611643	"""zinc finger protein 307"", ""zinc finger protein 427"""	ZNF307, ZNF427		12477932	Standard	NM_019110		Approved	p373c6.1, P1P373C6, FLJ32136, ZSCAN36	uc003nks.1	Q969J2	OTTHUMG00000014511	ENST00000377294.2:c.1627C>G	6.37:g.28212905G>C	ENSP00000366509:p.Leu543Val					ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.L388V	p.L543V	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN			5	1870	-			543					B2RE32|Q5U7L4	Missense_Mutation	SNP	ENST00000377294.2	37	c.1627C>G	CCDS4647.1	.	.	.	.	.	.	.	.	.	.	G	9.862	1.196651	0.22037	.	.	ENSG00000187626	ENST00000377294;ENST00000423974	T;T	0.06608	3.4;3.28	5.58	1.74	0.24563	.	.	.	.	.	T	0.01189	0.0039	N	0.17474	0.49	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.48080	-0.9066	9	0.72032	D	0.01	.	4.1433	0.10203	0.1425:0.2493:0.4939:0.1142	.	543	Q969J2	ZKSC4_HUMAN	V	543;388	ENSP00000366509:L543V;ENSP00000401978:L388V	ENSP00000366509:L543V	L	-	1	0	ZKSCAN4	28320884	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	0.027000	0.13621	-0.105000	0.12132	-0.808000	0.03180	CTT		0.443	ZKSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040179.1	NM_019110		32	90	0	0	0	1	0	32	90				
ZFHX4	79776	broad.mit.edu	37	8	77764944	77764944	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:77764944G>A	ENST00000521891.2	+	10	6235	c.5787G>A	c.(5785-5787)caG>caA	p.Q1929Q	ZFHX4_ENST00000050961.6_Silent_p.Q1884Q|ZFHX4_ENST00000455469.2_Silent_p.Q1884Q|ZFHX4_ENST00000518282.1_Silent_p.Q1903Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1884					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAACAGGCAGAAGGTACAGA	0.413										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(5785-5787)caG>caA		zinc finger homeobox 4							50.0	46.0	48.0					8																	77764944		1938	4159	6097	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764944G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5787G>A	8.37:g.77764944G>A		HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Silent_p.Q1884Q|ZFHX4_ENST00000050961.6_Silent_p.Q1884Q|ZFHX4_ENST00000518282.1_Silent_p.Q1903Q	p.Q1929Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6235	+			1884					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.5787G>A	CCDS47878.2																																																																																				0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		29	41	0	0	0	1	0	29	41				
PLPPR2	64748	broad.mit.edu	37	19	11474442	11474442	+	Silent	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:11474442C>G	ENST00000251473.5	+	8	1270	c.894C>G	c.(892-894)ctC>ctG	p.L298L	DKFZP761J1410_ENST00000591608.1_Silent_p.L273L	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					GCCGAAGGCTCTCTCCCTGGG	0.632																																						ENST00000251473.5																			0											c.(892-894)ctC>ctG									42.0	43.0	43.0					19																	11474442		2203	4300	6503	SO:0001819	synonymous_variant	64748							g.chr19:11474442C>G																												ENST00000251473.5:c.894C>G	19.37:g.11474442C>G						DKFZP761J1410_ENST00000591608.1_Silent_p.L273L	p.L298L	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					8	1270	+									Silent	SNP	ENST00000251473.5	37	c.894C>G	CCDS12258.1																																																																																				0.632	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			8	53	0	0	0	1	0	8	53				
ANKRD20A8P	729171	broad.mit.edu	37	2	95515045	95515045	+	RNA	SNP	T	T	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:95515045T>C	ENST00000432432.2	-	0	612				RNU6-1320P_ENST00000390838.1_RNA	NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		AAGTGGGGTATTACTGTCCTA	0.333																																						ENST00000432432.2																			0																																																			729171							g.chr2:95515045T>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.95515045T>C								NR_040113.1						0	612	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.333	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			21	151	0	0	0	1	0	21	151				
XIRP2	129446	broad.mit.edu	37	2	168099105	168099105	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:168099105C>G	ENST00000409195.1	+	9	1292	c.1203C>G	c.(1201-1203)ttC>ttG	p.F401L	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F179L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F401L|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	226					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGAGACTTTCAAGCCATCAT	0.423																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1201-1203)ttC>ttG		xin actin-binding repeat containing 2							135.0	122.0	126.0					2																	168099105		1903	4117	6020	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099105C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1203C>G	2.37:g.168099105C>G	ENSP00000386840:p.Phe401Leu					XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F179L|XIRP2_ENST00000295237.9_Missense_Mutation_p.F401L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	p.F401L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	1292	+			226					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1203C>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.995558	0.00435	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02121	4.44;4.44;4.44	5.59	-1.74	0.08056	.	1.186290	0.06197	N	0.682594	T	0.00580	0.0019	N	0.00268	-1.735	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.48210	-0.9055	10	0.02654	T	1	-0.0206	3.8581	0.08984	0.3181:0.4566:0.1134:0.1119	.	226;226;179	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	401;401;179	ENSP00000386840:F401L;ENSP00000295237:F401L;ENSP00000387255:F179L	ENSP00000295237:F401L	F	+	3	2	XIRP2	167807351	0.599000	0.26891	0.837000	0.33122	0.152000	0.21847	0.617000	0.24359	0.044000	0.15775	-0.264000	0.10439	TTC		0.423	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		11	89	0	0	0	1	0	11	89				
TTN	7273	broad.mit.edu	37	2	179477226	179477226	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:179477226C>G	ENST00000591111.1	-	216	45327	c.45103G>C	c.(45103-45105)Gag>Cag	p.E15035Q	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14108Q|TTN_ENST00000359218.5_Missense_Mutation_p.E7736Q|TTN_ENST00000460472.2_Missense_Mutation_p.E7611Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E16676Q|TTN_ENST00000342175.6_Missense_Mutation_p.E7803Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15035	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATCTTTCTCAGGAACTGTC	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50026-50028)Gag>Cag		titin							117.0	100.0	106.0					2																	179477226		1912	4138	6050	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477226C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45103G>C	2.37:g.179477226C>G	ENSP00000465570:p.Glu15035Gln					TTN_ENST00000591111.1_Missense_Mutation_p.E15035Q|TTN_ENST00000359218.5_Missense_Mutation_p.E7736Q|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E7803Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7611Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14108Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA	p.E16676Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		266	50250	-			15035			Fibronectin type-III 21.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50026G>C		.	.	.	.	.	.	.	.	.	.	C	14.26	2.481603	0.44147	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.71	5.71	0.89125	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72342	0.3448	M	0.63169	1.94	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.73522	-0.3956	9	0.87932	D	0	.	19.85	0.96736	0.0:1.0:0.0:0.0	.	7611;7736;7803;15035	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	14108;7611;7803;7736;7611	ENSP00000343764:E14108Q;ENSP00000434586:E7611Q;ENSP00000340554:E7803Q;ENSP00000352154:E7736Q	ENSP00000340554:E7803Q	E	-	1	0	TTN	179185471	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.978000	0.70501	2.697000	0.92050	0.563000	0.77884	GAG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	27	0	0	0	1	0	6	27				
LEPREL1	55214	broad.mit.edu	37	3	189688630	189688630	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:189688630G>A	ENST00000319332.5	-	13	2065	c.1868C>T	c.(1867-1869)aCa>aTa	p.T623I	LEPREL1_ENST00000427335.2_Missense_Mutation_p.T442I	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	623	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATCCATCTCTGTGAATATGAA	0.313																																						ENST00000319332.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41						c.(1867-1869)aCa>aTa		leprecan-like 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						120.0	117.0	118.0					3																	189688630		2203	4298	6501	SO:0001583	missense	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189688630G>A		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1868C>T	3.37:g.189688630G>A	ENSP00000316881:p.Thr623Ile					LEPREL1_ENST00000427335.2_Missense_Mutation_p.T442I	p.T623I	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	13	2065	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		623			Fe2OG dioxygenase.		B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1868C>T	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752217	0.89753	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.54675	0.56;0.56	5.89	5.89	0.94794	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.68593	2.085	0.80722	D	1	P	0.41848	0.763	P	0.45276	0.475	T	0.57894	-0.7732	9	.	.	.	-15.0458	19.2359	0.93858	0.0:0.0:1.0:0.0	.	623	Q8IVL5	P3H2_HUMAN	I	623;442	ENSP00000316881:T623I;ENSP00000408947:T442I	.	T	-	2	0	LEPREL1	191171324	1.000000	0.71417	0.966000	0.40874	0.960000	0.62799	9.444000	0.97578	2.782000	0.95742	0.637000	0.83480	ACA		0.313	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		12	41	0	0	0	1	0	12	41				
BBS9	27241	broad.mit.edu	37	7	33407426	33407426	+	Missense_Mutation	SNP	C	C	T	rs537110423		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:33407426C>T	ENST00000242067.6	+	17	2262	c.1741C>T	c.(1741-1743)Cac>Tac	p.H581Y	BBS9_ENST00000354265.4_Missense_Mutation_p.H546Y|BBS9_ENST00000396127.2_Missense_Mutation_p.H546Y|BBS9_ENST00000355070.2_Missense_Mutation_p.H576Y|BBS9_ENST00000350941.3_Missense_Mutation_p.H541Y	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	581					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AATGGGTTTTCACTTCTTAGG	0.358									Bardet-Biedl syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		21393	0.001		0.0	False		,,,				2504	0.0					ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(1741-1743)Cac>Tac		Bardet-Biedl syndrome 9							234.0	216.0	222.0					7																	33407426		2203	4300	6503	SO:0001583	missense	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33407426C>T		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1741C>T	7.37:g.33407426C>T	ENSP00000242067:p.His581Tyr					BBS9_ENST00000396127.2_Missense_Mutation_p.H546Y|BBS9_ENST00000355070.2_Missense_Mutation_p.H576Y|BBS9_ENST00000354265.4_Missense_Mutation_p.H546Y|BBS9_ENST00000350941.3_Missense_Mutation_p.H541Y	p.H581Y	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		17	2262	+			581					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	ENST00000242067.6	37	c.1741C>T	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.39|14.39	2.522279|2.522279	0.44866|0.44866	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132|ENST00000434373	T;T;T;T;T|.	0.11277|.	2.79;2.79;2.79;2.79;2.79|.	5.48|5.48	4.6|4.6	0.57074|0.57074	.|.	0.411984|.	0.27139|.	N|.	0.020755|.	T|T	0.50599|0.50599	0.1625|0.1625	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.18968|.	0.032;0.009;0.009;0.009;0.022|.	B;B;B;B;B|.	0.30401|.	0.095;0.095;0.095;0.115;0.095|.	T|T	0.44375|0.44375	-0.9332|-0.9332	10|5	0.66056|.	D|.	0.02|.	-2.4423|-2.4423	8.7591|8.7591	0.34663|0.34663	0.1495:0.7741:0.0:0.0764|0.1495:0.7741:0.0:0.0764	.|.	581;541;576;546;581|.	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.	.;.;.;.;PTHB1_HUMAN|.	Y|L	581;541;546;576;546;581|147	ENSP00000242067:H581Y;ENSP00000313122:H541Y;ENSP00000379433:H546Y;ENSP00000347182:H576Y;ENSP00000346214:H546Y|.	ENSP00000242067:H581Y|.	H|S	+|+	1|2	0|0	BBS9|BBS9	33373951|33373951	0.480000|0.480000	0.25933|0.25933	0.612000|0.612000	0.29024|0.29024	0.928000|0.928000	0.56348|0.56348	1.966000|1.966000	0.40481|0.40481	1.315000|1.315000	0.45114|0.45114	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.358	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			5	70	0	0	0	1	0	5	70				
LRRC36	55282	broad.mit.edu	37	16	67400972	67400972	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:67400972G>A	ENST00000329956.6	+	8	826	c.807G>A	c.(805-807)atG>atA	p.M269I	LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Start_Codon_SNP_p.M1I|LRRC36_ENST00000563189.1_Missense_Mutation_p.M148I|LRRC36_ENST00000435835.3_Missense_Mutation_p.M148I	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	269										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CAGAGAAGATGACTAGAGAAG	0.403																																						ENST00000329956.6																			0				endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24						c.(805-807)atG>atA		leucine rich repeat containing 36							98.0	101.0	100.0					16																	67400972		2198	4300	6498	SO:0001583	missense	55282							g.chr16:67400972G>A	BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.807G>A	16.37:g.67400972G>A	ENSP00000329943:p.Met269Ile					LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Start_Codon_SNP_p.M1I|LRRC36_ENST00000435835.3_Missense_Mutation_p.M148I|LRRC36_ENST00000563189.1_Missense_Mutation_p.M148I	p.M269I	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)	8	826	+		Ovarian(137;0.192)	269					A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Missense_Mutation	SNP	ENST00000329956.6	37	c.807G>A	CCDS32467.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606840	0.87157	.	.	ENSG00000159708	ENST00000329956;ENST00000290940;ENST00000435835	T;T;T	0.54071	3.14;0.59;1.39	6.16	6.16	0.99307	.	0.318448	0.34906	N	0.003588	T	0.57110	0.2031	L	0.56769	1.78	0.80722	D	1	P;P;P	0.39022	0.655;0.631;0.655	B;B;B	0.42851	0.194;0.4;0.194	T	0.59413	-0.7459	10	0.87932	D	0	-9.7815	16.3599	0.83257	0.0:0.0:1.0:0.0	.	148;148;269	B7Z7B3;Q1X8D7-2;Q1X8D7	.;.;LRC36_HUMAN	I	269;1;148	ENSP00000329943:M269I;ENSP00000290940:M1I;ENSP00000411122:M148I	ENSP00000290940:M1I	M	+	3	0	LRRC36	65958473	0.999000	0.42202	0.995000	0.50966	0.999000	0.98932	3.494000	0.53273	2.937000	0.99478	0.650000	0.86243	ATG		0.403	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421770.1	NM_018296		15	88	0	0	0	1	0	15	88				
NRCAM	4897	broad.mit.edu	37	7	107875086	107875086	+	Silent	SNP	A	A	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:107875086A>G	ENST00000425651.2	-	3	170	c.171T>C	c.(169-171)atT>atC	p.I57I	NRCAM_ENST00000379022.4_Silent_p.I57I|NRCAM_ENST00000379028.3_Silent_p.I57I|NRCAM_ENST00000351718.4_Silent_p.I51I|NRCAM_ENST00000413765.2_Silent_p.I57I|NRCAM_ENST00000379024.4_Silent_p.I57I	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	57	Ig-like 1.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GAGGGTCAATAATGTAATCTT	0.353																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(169-171)atT>atC		neuronal cell adhesion molecule							105.0	114.0	111.0					7																	107875086		2203	4300	6503	SO:0001819	synonymous_variant	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107875086A>G		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.171T>C	7.37:g.107875086A>G						NRCAM_ENST00000413765.2_Silent_p.I57I|NRCAM_ENST00000379022.4_Silent_p.I57I|NRCAM_ENST00000379024.4_Silent_p.I57I|NRCAM_ENST00000351718.4_Silent_p.I51I|NRCAM_ENST00000425651.2_Silent_p.I57I	p.I57I			Q92823	NRCAM_HUMAN			6	641	-			57			Ig-like 1.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Silent	SNP	ENST00000425651.2	37	c.171T>C	CCDS47686.1																																																																																				0.353	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		10	66	0	0	0	1	0	10	66				
CAPZB	832	broad.mit.edu	37	1	19705096	19705096	+	Silent	SNP	C	C	T	rs372623313		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:19705096C>T	ENST00000375142.1	-	4	313	c.267G>A	c.(265-267)ccG>ccA	p.P89P	CAPZB_ENST00000433834.1_Silent_p.P118P|CAPZB_ENST00000401084.2_Silent_p.P89P|CAPZB_ENST00000375144.1_Silent_p.P77P|CAPZB_ENST00000264202.6_Silent_p.P89P|CAPZB_ENST00000264203.3_Silent_p.P115P|CAPZB_ENST00000482808.1_5'UTR	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	89					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		GCCGAGCTGACGGCATGGCCC	0.502																																						ENST00000264203.3																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(343-345)ccG>ccA		capping protein (actin filament) muscle Z-line, beta		C	,,	0,4018		0,0,2009	112.0	111.0	111.0		267,345,267	-5.1	0.9	1		111	1,8333		0,1,4166	no	coding-synonymous,coding-synonymous,coding-synonymous	CAPZB	NM_001206540.1,NM_001206541.1,NM_004930.3	,,	0,1,6175	TT,TC,CC		0.012,0.0,0.0081	,,	89/278,115/261,89/273	19705096	1,12351	2009	4167	6176	SO:0001819	synonymous_variant	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19705096C>T	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.267G>A	1.37:g.19705096C>T						CAPZB_ENST00000375144.1_Silent_p.P77P|CAPZB_ENST00000375142.1_Silent_p.P89P|CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000433834.1_Silent_p.P118P|CAPZB_ENST00000264202.6_Silent_p.P89P|CAPZB_ENST00000401084.2_Silent_p.P89P	p.P115P			P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	5	838	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	89					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Silent	SNP	ENST00000375142.1	37	c.345G>A	CCDS55579.1																																																																																				0.502	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			15	70	0	0	0	1	0	15	70				
FAM135B	51059	broad.mit.edu	37	8	139207509	139207509	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:139207509C>T	ENST00000395297.1	-	9	1035	c.865G>A	c.(865-867)Gag>Aag	p.E289K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	289										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACCTGTAGCTCTGAGCACAGC	0.433										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(865-867)Gag>Aag		family with sequence similarity 135, member B							88.0	84.0	85.0					8																	139207509		1862	4099	5961	SO:0001583	missense	51059							g.chr8:139207509C>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.865G>A	8.37:g.139207509C>T	ENSP00000378710:p.Glu289Lys	HNSCC(54;0.14)					p.E289K	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		9	1035	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		289					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.865G>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303376	0.81136	.	.	ENSG00000147724	ENST00000395297	T	0.80480	-1.38	4.44	4.44	0.53790	.	0.122358	0.53938	D	0.000050	D	0.87277	0.6137	M	0.72894	2.215	0.46298	D	0.998973	D	0.63880	0.993	D	0.72625	0.978	D	0.85446	0.1158	10	0.36615	T	0.2	-15.9853	12.8867	0.58049	0.0:1.0:0.0:0.0	.	289	Q49AJ0	F135B_HUMAN	K	289	ENSP00000378710:E289K	ENSP00000276737:E289K	E	-	1	0	FAM135B	139276691	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	4.696000	0.61774	2.759000	0.94783	0.557000	0.71058	GAG		0.433	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		8	76	0	0	0	1	0	8	76				
OR5H6	79295	broad.mit.edu	37	3	97983171	97983171	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:97983171G>A	ENST00000383696.2	+	1	84	c.43G>A	c.(43-45)Gag>Aag	p.E15K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GACATGCAGTGAGGAGATGGA	0.383																																						ENST00000383696.2																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(43-45)Gag>Aag		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							115.0	115.0	115.0					3																	97983171		2203	4300	6503	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983171G>A	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.43G>A	3.37:g.97983171G>A	ENSP00000373196:p.Glu15Lys					RP11-325B23.2_ENST00000508616.1_lincRNA	p.E15K	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	84	+			15					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.43G>A	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	0.031	-1.335561	0.01287	.	.	ENSG00000230301	ENST00000383696	T	0.02974	4.09	2.19	-3.85	0.04243	.	.	.	.	.	T	0.00998	0.0033	N	0.03224	-0.385	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46162	-0.9211	9	0.02654	T	1	.	4.0348	0.09725	0.3667:0.0:0.4679:0.1653	.	15	Q8NGV6	OR5H6_HUMAN	K	15	ENSP00000373196:E15K	ENSP00000373196:E15K	E	+	1	0	OR5H6	99465861	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	0.114000	0.15520	-0.599000	0.05798	0.194000	0.17425	GAG		0.383	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			23	101	0	0	0	1	0	23	101				
GALNTL5	168391	broad.mit.edu	37	7	151716859	151716859	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:151716859G>T	ENST00000392800.2	+	9	1559	c.1305G>T	c.(1303-1305)gaG>gaT	p.E435D	GALNTL5_ENST00000431418.2_Missense_Mutation_p.E435D	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	435					spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TCTTCCCAGAGTTGGAGGCAT	0.403																																						ENST00000392800.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32						c.(1303-1305)gaG>gaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5							103.0	95.0	97.0					7																	151716859		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151716859G>T	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1305G>T	7.37:g.151716859G>T	ENSP00000376548:p.Glu435Asp					GALNTL5_ENST00000431418.2_Missense_Mutation_p.E435D	p.E435D	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	9	1559	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	435					Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.1305G>T	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802759	0.70682	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.10763	2.84;2.84	4.88	-2.64	0.06114	.	0.000000	0.47852	D	0.000203	T	0.16769	0.0403	L	0.49455	1.56	0.23739	N	0.99698	D;B	0.89917	1.0;0.289	D;B	0.76071	0.987;0.151	T	0.11060	-1.0603	10	0.28530	T	0.3	.	4.8597	0.13577	0.4235:0.0:0.4316:0.1449	.	186;435	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	D	435	ENSP00000392582:E435D;ENSP00000376548:E435D	ENSP00000376548:E435D	E	+	3	2	GALNTL5	151347792	0.859000	0.29813	0.029000	0.17559	0.602000	0.36980	0.907000	0.28531	-0.371000	0.08004	0.557000	0.71058	GAG		0.403	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		20	37	1	0	4.96729e-08	1	5.24435e-08	20	37				
CHRM5	1133	broad.mit.edu	37	15	34356456	34356456	+	Missense_Mutation	SNP	G	G	A	rs367778274		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:34356456G>A	ENST00000383263.5	+	3	2208	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	CHRM5_ENST00000557872.1_Missense_Mutation_p.R513Q	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	513					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTTCTCTGCCGATGGAAAAAG	0.463																																						ENST00000383263.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(1537-1539)cGa>cAa		cholinergic receptor, muscarinic 5	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						70.0	76.0	74.0					15																	34356456		2201	4298	6499	SO:0001583	missense	1133				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34356456G>A		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.1538G>A	15.37:g.34356456G>A	ENSP00000372750:p.Arg513Gln					CHRM5_ENST00000557872.1_Missense_Mutation_p.R513Q	p.R513Q	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	3	2208	+		all_lung(180;1.76e-08)	513					Q96RG7	Missense_Mutation	SNP	ENST00000383263.5	37	c.1538G>A	CCDS10031.1	.	.	.	.	.	.	.	.	.	.	G	2.049	-0.418100	0.04766	.	.	ENSG00000184984	ENST00000383263	T	0.38560	1.13	5.45	3.6	0.41247	.	0.199984	0.45126	N	0.000397	T	0.12561	0.0305	N	0.01257	-0.925	0.40341	D	0.979039	B	0.02656	0.0	B	0.04013	0.001	T	0.22138	-1.0225	10	0.02654	T	1	-2.9328	8.396	0.32557	0.2857:0.0:0.7142:0.0	.	513	P08912	ACM5_HUMAN	Q	513	ENSP00000372750:R513Q	ENSP00000372750:R513Q	R	+	2	0	CHRM5	32143748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.201000	0.42734	0.875000	0.35847	0.650000	0.86243	CGA		0.463	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			9	50	0	0	0	1	0	9	50				
SRCAP	10847	broad.mit.edu	37	16	30748954	30748954	+	Silent	SNP	A	A	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:30748954A>C	ENST00000262518.4	+	34	7978	c.7593A>C	c.(7591-7593)ccA>ccC	p.P2531P	SRCAP_ENST00000395059.2_Silent_p.P2469P|SRCAP_ENST00000344771.4_Silent_p.P2373P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2531	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCTTGGTCCACCTTCTGTGC	0.597																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7591-7593)ccA>ccC		Snf2-related CREBBP activator protein							183.0	165.0	171.0					16																	30748954		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30748954A>C	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7593A>C	16.37:g.30748954A>C						SRCAP_ENST00000344771.4_Silent_p.P2373P|SRCAP_ENST00000395059.2_Silent_p.P2469P	p.P2531P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	7978	+			2531			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.7593A>C	CCDS10689.2																																																																																				0.597	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		12	112	0	0	0	1	0	12	112				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	23666							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	89	1	0	0.150653	1	0.150653	4	89				
RFFL	117584	broad.mit.edu	37	17	33339032	33339032	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:33339032G>C	ENST00000315249.7	-	7	1269	c.1047C>G	c.(1045-1047)atC>atG	p.I349M	RFFL_ENST00000268850.7_Missense_Mutation_p.I313M|RFFL_ENST00000413582.2_Missense_Mutation_p.I341M|RFFL_ENST00000415395.2_Missense_Mutation_p.I349M|RP5-837J1.2_ENST00000578488.1_RNA|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.I258M|RFFL_ENST00000584655.1_Missense_Mutation_p.I313M|RFFL_ENST00000394597.2_Missense_Mutation_p.I349M|RFFL_ENST00000378516.2_Missense_Mutation_p.I341M|RFFL_ENST00000447669.2_Missense_Mutation_p.I349M					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACTGCCGGCAGATGGGACATT	0.522																																						ENST00000315249.7																			0				kidney(1)|large_intestine(2)|lung(3)	6						c.(1045-1047)atC>atG		ring finger and FYVE-like domain containing E3 ubiquitin protein ligase							145.0	114.0	125.0					17																	33339032		2203	4300	6503	SO:0001583	missense	117584				apoptosis	membrane	ligase activity|zinc ion binding	g.chr17:33339032G>C	AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.1047C>G	17.37:g.33339032G>C	ENSP00000326170:p.Ile349Met					RFFL_ENST00000447669.2_Missense_Mutation_p.I349M|RFFL_ENST00000413582.2_Missense_Mutation_p.I341M|RFFL_ENST00000394597.2_Missense_Mutation_p.I349M|RFFL_ENST00000268850.7_Missense_Mutation_p.I313M|RFFL_ENST00000584655.1_Missense_Mutation_p.I313M|RFFL_ENST00000378516.2_Missense_Mutation_p.I341M|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.I258M|RFFL_ENST00000415395.2_Missense_Mutation_p.I349M	p.I349M			Q8WZ73	RFFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	7	1269	-		Ovarian(249;0.17)	349						Missense_Mutation	SNP	ENST00000315249.7	37	c.1047C>G	CCDS11286.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439193	0.83885	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.64	4.67	0.58626	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.146358	0.64402	D	0.000012	D	0.86289	0.5897	L	0.57130	1.785	0.80722	D	1	D;D;D	0.76494	0.999;0.981;0.999	D;P;D	0.83275	0.996;0.869;0.996	D	0.87002	0.2117	10	0.87932	D	0	-26.5467	10.1626	0.42860	0.0719:0.0:0.7916:0.1365	.	313;349;341	Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;RFFL_HUMAN;.	M	349;349;341;313	ENSP00000326170:I349M;ENSP00000378096:I349M;ENSP00000367777:I341M;ENSP00000268850:I313M	ENSP00000268850:I313M	I	-	3	3	RFFL	30363145	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.810000	0.55613	1.612000	0.50221	0.650000	0.86243	ATC		0.522	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256460.2	NM_057178		13	83	0	0	0	1	0	13	83				
AMACR	23600	broad.mit.edu	37	5	34004719	34004719	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:34004719C>T	ENST00000335606.6	-	3	600	c.512G>A	c.(511-513)cGc>cAc	p.R171H	AMACR_ENST00000441713.2_Intron|AMACR_ENST00000382068.3_Intron|AMACR_ENST00000514195.1_Intron|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000502637.1_Missense_Mutation_p.R171H|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000512079.1_Missense_Mutation_p.R171H|AMACR_ENST00000426255.2_Missense_Mutation_p.R171H|AMACR_ENST00000382085.3_Missense_Mutation_p.R171H	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	171					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AGTGCGTGTGCGGTCAAAAAG	0.478																																						ENST00000335606.6																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						c.(511-513)cGc>cAc		alpha-methylacyl-CoA racemase							150.0	131.0	137.0					5																	34004719		2203	4300	6503	SO:0001583	missense	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:34004719C>T	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.512G>A	5.37:g.34004719C>T	ENSP00000334424:p.Arg171His					AMACR_ENST00000382085.3_Missense_Mutation_p.R171H|AMACR_ENST00000382072.2_Intron|AMACR_ENST00000502637.1_Missense_Mutation_p.R171H|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000514195.1_Intron	p.R171H	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN			3	600	-			171					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.512G>A	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587483	0.96590	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.64085	-0.08;-0.08;-0.08	5.92	5.92	0.95590	CoA-transferase family III domain (2);	0.000000	0.85682	D	0.000000	D	0.86944	0.6055	H	0.98388	4.22	0.80722	D	1	D;D;D;D	0.67145	0.995;0.995;0.996;0.996	P;P;P;P	0.60415	0.841;0.801;0.874;0.874	D	0.91414	0.5153	10	0.87932	D	0	-20.115	20.3206	0.98668	0.0:1.0:0.0:0.0	.	171;171;171;171	B3KMU8;F8W9N1;D6RB81;Q9UHK6	.;.;.;AMACR_HUMAN	H	171	ENSP00000334424:R171H;ENSP00000371517:R171H;ENSP00000424351:R171H	ENSP00000334424:R171H	R	-	2	0	AMACR	34040476	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.201000	0.77847	2.809000	0.96659	0.655000	0.94253	CGC		0.478	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		4	125	0	0	0	1	0	4	125				
PKN3	29941	broad.mit.edu	37	9	131469624	131469624	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr9:131469624G>C	ENST00000291906.4	+	6	1168	c.775G>C	c.(775-777)Gct>Cct	p.A259P	RN7SL560P_ENST00000577943.1_RNA	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	259					epithelial cell migration (GO:0010631)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGAGTTGCGGGCTGCGGTGCC	0.612																																						ENST00000291906.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(775-777)Gct>Cct		protein kinase N3							36.0	38.0	38.0					9																	131469624		2203	4300	6503	SO:0001583	missense	29941				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity	g.chr9:131469624G>C	AB019692	CCDS6908.1	9q34.13	2008-02-05			ENSG00000160447	ENSG00000160447			17999	protein-coding gene	gene with protein product		610714				10441506	Standard	NM_013355		Approved	PKNbeta	uc004bvw.3	Q6P5Z2	OTTHUMG00000020757	ENST00000291906.4:c.775G>C	9.37:g.131469624G>C	ENSP00000291906:p.Ala259Pro						p.A259P	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN			6	1168	+			259					Q9UM03	Missense_Mutation	SNP	ENST00000291906.4	37	c.775G>C	CCDS6908.1	.	.	.	.	.	.	.	.	.	.	A	4.568	0.105552	0.08780	.	.	ENSG00000160447	ENST00000291906	T	0.24723	1.84	5.67	0.511	0.16989	.	.	.	.	.	T	0.13756	0.0333	N	0.19112	0.55	0.09310	N	1	B;B	0.24533	0.105;0.052	B;B	0.20384	0.029;0.017	T	0.28522	-1.0041	9	0.30854	T	0.27	.	5.6597	0.17662	0.2925:0.0:0.5332:0.1743	.	259;259	Q05BU1;Q6P5Z2	.;PKN3_HUMAN	P	259	ENSP00000291906:A259P	ENSP00000291906:A259P	A	+	1	0	PKN3	130509445	0.001000	0.12720	0.011000	0.14972	0.005000	0.04900	-0.135000	0.10420	-0.133000	0.11537	-0.361000	0.07541	GCT		0.612	PKN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054487.1	NM_013355		14	23	0	0	0	1	0	14	23				
SKI	6497	broad.mit.edu	37	1	2160602	2160602	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:2160602G>T	ENST00000378536.4	+	1	469	c.397G>T	c.(397-399)Gac>Tac	p.D133Y		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	133					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GGTGCTGCGCGACTTCTCGCT	0.622																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(397-399)Gac>Tac		v-ski avian sarcoma viral oncogene homolog							28.0	27.0	27.0					1																	2160602		2192	4295	6487	SO:0001583	missense	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2160602G>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.397G>T	1.37:g.2160602G>T	ENSP00000367797:p.Asp133Tyr						p.D133Y	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	1	469	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		133					Q5SYT7	Missense_Mutation	SNP	ENST00000378536.4	37	c.397G>T	CCDS39.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272297	0.80580	.	.	ENSG00000157933	ENST00000378536	D	0.84223	-1.82	2.96	2.96	0.34315	DNA binding domain, putative (1);Transforming protein Ski (2);	0.252421	0.38217	N	0.001765	D	0.91280	0.7251	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92281	0.5833	10	0.87932	D	0	-23.2718	12.9845	0.58583	0.0:0.0:1.0:0.0	.	133	P12755	SKI_HUMAN	Y	133	ENSP00000367797:D133Y	ENSP00000367797:D133Y	D	+	1	0	SKI	2150462	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.534000	0.82004	1.504000	0.48704	0.393000	0.25936	GAC		0.622	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		5	27	1	0	0.014758	1	0.014927	5	27				
SLK	9748	broad.mit.edu	37	10	105781404	105781404	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:105781404G>A	ENST00000369755.3	+	18	4019	c.3474G>A	c.(3472-3474)gaG>gaA	p.E1158E	SLK_ENST00000335753.4_Silent_p.E1127E	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1158					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTTGGTTGAGCATGAGACTC	0.323																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(3472-3474)gaG>gaA		STE20-like kinase							82.0	86.0	85.0					10																	105781404		2203	4300	6503	SO:0001819	synonymous_variant	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105781404G>A		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.3474G>A	10.37:g.105781404G>A						SLK_ENST00000335753.4_Silent_p.E1127E	p.E1158E	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	18	4019	+		Colorectal(252;0.178)	1158					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Silent	SNP	ENST00000369755.3	37	c.3474G>A	CCDS7553.1																																																																																				0.323	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		4	53	0	0	0	1	0	4	53				
ZNF613	79898	broad.mit.edu	37	19	52448568	52448568	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:52448568C>G	ENST00000293471.6	+	6	2111	c.1432C>G	c.(1432-1434)Cac>Gac	p.H478D	ZNF613_ENST00000391794.4_Missense_Mutation_p.H442D|ZNF613_ENST00000601794.1_3'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	478					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)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CCAGAGAATTCACACAGGAGA	0.448																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1432-1434)Cac>Gac		zinc finger protein 613							75.0	70.0	71.0					19																	52448568		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52448568C>G	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.1432C>G	19.37:g.52448568C>G	ENSP00000293471:p.His478Asp					ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.H442D	p.H478D	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	2111	+		all_neural(266;0.117)	478					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.1432C>G	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278584	0.59758	.	.	ENSG00000176024	ENST00000293471;ENST00000391794;ENST00000535279	T;T	0.67698	-0.28;-0.28	3.36	2.32	0.28847	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38326	N	0.001729	D	0.86020	0.5833	H	0.97732	4.065	0.32473	N	0.54254	D	0.76494	0.999	D	0.91635	0.999	D	0.88311	0.2956	10	0.87932	D	0	.	9.8016	0.40768	0.0:0.8944:0.0:0.1056	.	478	Q6PF04	ZN613_HUMAN	D	478;442;152	ENSP00000293471:H478D;ENSP00000375671:H442D	ENSP00000293471:H478D	H	+	1	0	ZNF613	57140380	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	6.694000	0.74587	0.764000	0.33197	0.655000	0.94253	CAC		0.448	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		23	49	0	0	0	1	0	23	49				
CCR8	1237	broad.mit.edu	37	3	39374086	39374086	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:39374086C>T	ENST00000326306.4	+	2	402	c.264C>T	c.(262-264)ttC>ttT	p.F88F	CCR8_ENST00000414803.1_Intron|CCR8_ENST00000545843.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	88					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TCTTCTCCTTCCCCTTTCAGA	0.488																																						ENST00000326306.4																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(262-264)ttC>ttT		chemokine (C-C motif) receptor 8							252.0	224.0	233.0					3																	39374086		2203	4300	6503	SO:0001819	synonymous_variant	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374086C>T	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.264C>T	3.37:g.39374086C>T						CCR8_ENST00000414803.1_Intron|CCR8_ENST00000545843.1_Intron	p.F88F	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	402	+			88					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Silent	SNP	ENST00000326306.4	37	c.264C>T	CCDS2684.1																																																																																				0.488	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		30	147	0	0	0	1	0	30	147				
KMT2C	58508	broad.mit.edu	37	7	151945174	151945174	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:151945174G>C	ENST00000262189.6	-	14	2563	c.2345C>G	c.(2344-2346)tCt>tGt	p.S782C	KMT2C_ENST00000355193.2_Missense_Mutation_p.S782C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	782					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGGGGAGGAAGACACATCTGC	0.428																																						ENST00000355193.2																			0											c.(2344-2346)tCt>tGt		lysine (K)-specific methyltransferase 2C							318.0	286.0	297.0					7																	151945174		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151945174G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2345C>G	7.37:g.151945174G>C	ENSP00000262189:p.Ser782Cys					KMT2C_ENST00000262189.6_Missense_Mutation_p.S782C	p.S782C							14	2563	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2345C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	9.418	1.082199	0.20309	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85171	-1.93;-1.95	5.68	4.76	0.60689	.	0.000000	0.45867	D	0.000335	T	0.79913	0.4528	L	0.34521	1.04	0.80722	D	1	B	0.18461	0.028	B	0.15052	0.012	T	0.74985	-0.3477	10	0.41790	T	0.15	.	18.2877	0.90119	0.0:0.1287:0.8713:0.0	.	782	Q8NEZ4	MLL3_HUMAN	C	782	ENSP00000262189:S782C;ENSP00000347325:S782C	ENSP00000262189:S782C	S	-	2	0	MLL3	151576107	1.000000	0.71417	0.988000	0.46212	0.508000	0.34012	3.633000	0.54295	2.672000	0.90937	0.650000	0.86243	TCT		0.428	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	356	0	0	0	1	0	8	356				
KIAA0100	9703	broad.mit.edu	37	17	26962072	26962072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:26962072G>A	ENST00000528896.2	-	16	2607	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*	KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q702*|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q702*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	845						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGCCACTTCTGAACTCCCACA	0.527																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2533-2535)Cag>Tag		KIAA0100							141.0	157.0	152.0					17																	26962072		2203	4300	6503	SO:0001587	stop_gained	9703					extracellular region		g.chr17:26962072G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2533C>T	17.37:g.26962072G>A	ENSP00000436773:p.Gln845*					KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q702*|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q702*	p.Q845*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			16	2607	-	Lung NSC(42;0.00431)		845					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Nonsense_Mutation	SNP	ENST00000528896.2	37	c.2533C>T	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	42	9.341106	0.99142	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	20.2456	0.98397	0.0:0.0:1.0:0.0	.	.	.	.	X	845;815;845;702	.	ENSP00000005905:Q845X	Q	-	1	0	KIAA0100	23986199	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.221000	0.95188	2.792000	0.96026	0.557000	0.71058	CAG		0.527	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		43	198	0	0	0	1	0	43	198				
APOB	338	broad.mit.edu	37	2	21232630	21232630	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:21232630C>T	ENST00000233242.1	-	26	7237	c.7110G>A	c.(7108-7110)ttG>ttA	p.L2370L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2370					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGTCTCCTTCAACTTGTATT	0.368																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(7108-7110)ttG>ttA		apolipoprotein B	Atorvastatin(DB01076)						67.0	62.0	64.0					2																	21232630		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21232630C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7110G>A	2.37:g.21232630C>T							p.L2370L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	7237	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2370					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.7110G>A	CCDS1703.1																																																																																				0.368	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			7	28	0	0	0	1	0	7	28				
BAGE2	85319	broad.mit.edu	37	21	11038916	11038916	+	RNA	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr21:11038916G>C	ENST00000470054.1	-	0	1287							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGGGAGGAAGACACATCTGC	0.428																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038916G>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038916G>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1287	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.428	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	423	0	0	0	1	0	7	423				
MMP14	4323	broad.mit.edu	37	14	23314558	23314558	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:23314558T>A	ENST00000311852.6	+	9	1661	c.1400T>A	c.(1399-1401)tTc>tAc	p.F467Y	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	467					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	AGAGGGTCATTCATGGGCAGC	0.557																																						ENST00000311852.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(1399-1401)tTc>tAc		matrix metallopeptidase 14 (membrane-inserted)							65.0	51.0	56.0					14																	23314558		2203	4300	6503	SO:0001583	missense	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23314558T>A		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1400T>A	14.37:g.23314558T>A	ENSP00000308208:p.Phe467Tyr					MMP14_ENST00000548162.1_3'UTR	p.F467Y	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	9	1661	+	all_cancers(95;9.47e-05)		467			Hemopexin-like 4.		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	c.1400T>A	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488902	0.84962	.	.	ENSG00000157227	ENST00000311852	T	0.10668	2.85	4.92	4.92	0.64577	Hemopexin/matrixin (2);	0.095148	0.85682	D	0.000000	T	0.37433	0.1003	M	0.87456	2.885	0.58432	D	0.999998	D	0.71674	0.998	D	0.76575	0.988	T	0.37174	-0.9717	10	0.66056	D	0.02	.	13.6794	0.62474	0.0:0.0:0.0:1.0	.	467	P50281	MMP14_HUMAN	Y	467	ENSP00000308208:F467Y	ENSP00000308208:F467Y	F	+	2	0	MMP14	22384398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.024000	0.70857	2.076000	0.62316	0.455000	0.32223	TTC		0.557	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		17	39	0	0	0	1	0	17	39				
ZNF829	374899	broad.mit.edu	37	19	37405914	37405914	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:37405914C>G	ENST00000391711.3	-	3	413	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	ZNF829_ENST00000520965.1_Missense_Mutation_p.E98Q|ZNF568_ENST00000455427.2_5'Flank|ZNF568_ENST00000427117.1_5'Flank|ZNF568_ENST00000333987.7_5'Flank|ZNF568_ENST00000415168.1_5'Flank	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	17	Poly-Glu.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCTCCTCTTCTGGGTGACAC	0.423																																						ENST00000520965.1																			0				endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(292-294)Gaa>Caa		zinc finger protein 829							104.0	104.0	104.0					19																	37405914		1888	4112	6000	SO:0001583	missense	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37405914C>G	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.49G>C	19.37:g.37405914C>G	ENSP00000429266:p.Glu17Gln					ZNF829_ENST00000391711.3_Missense_Mutation_p.E17Q	p.E98Q	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	358	-	Esophageal squamous(110;0.183)		17			KRAB.		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	c.292G>C	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	8.962	0.970890	0.18659	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.05199	3.48	4.0	-0.628	0.11537	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.23377	0.084	B	0.21360	0.034	T	0.48422	-0.9037	9	0.12766	T	0.61	.	3.6134	0.08069	0.0:0.4813:0.1911:0.3276	.	17	Q3KNS6	ZN829_HUMAN	Q	17	ENSP00000429266:E17Q	ENSP00000429266:E17Q	E	-	1	0	ZNF829	42097754	0.002000	0.14202	0.029000	0.17559	0.061000	0.15899	-0.043000	0.12043	-0.005000	0.14395	0.655000	0.94253	GAA		0.423	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		4	50	0	0	0	1	0	4	50				
CCDC13	152206	broad.mit.edu	37	3	42799702	42799702	+	Missense_Mutation	SNP	C	C	T	rs369416304		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:42799702C>T	ENST00000310232.6	-	2	219	c.136G>A	c.(136-138)Gac>Aac	p.D46N	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	46										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCTCTTGGTCGTCAGCTCTG	0.493																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(136-138)Gac>Aac		coiled-coil domain containing 13		C	ASN/ASP	0,4406		0,0,2203	236.0	194.0	208.0		136	3.7	0.0	3		208	2,8598	2.2+/-6.3	0,2,4298	no	missense	CCDC13	NM_144719.3	23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	46/716	42799702	2,13004	2203	4300	6503	SO:0001583	missense	152206							g.chr3:42799702C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.136G>A	3.37:g.42799702C>T	ENSP00000309836:p.Asp46Asn					CCDC13_ENST00000435327.2_5'UTR	p.D46N	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			2	219	-			46						Missense_Mutation	SNP	ENST00000310232.6	37	c.136G>A	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	6.038	0.375332	0.11409	0.0	2.33E-4	ENSG00000244607	ENST00000310232	T	0.22539	1.95	4.59	3.7	0.42460	.	0.832156	0.10870	N	0.625002	T	0.10723	0.0262	N	0.12746	0.255	0.09310	N	0.999994	B;B;B	0.15930	0.015;0.015;0.012	B;B;B	0.12837	0.008;0.008;0.003	T	0.36986	-0.9725	10	0.12430	T	0.62	.	7.3517	0.26695	0.0:0.801:0.0:0.199	.	46;46;46	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	N	46	ENSP00000309836:D46N	ENSP00000309836:D46N	D	-	1	0	CCDC13	42774706	0.005000	0.15991	0.002000	0.10522	0.003000	0.03518	1.176000	0.31957	1.105000	0.41606	0.655000	0.94253	GAC		0.493	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		20	52	0	0	0	1	0	20	52				
KIF26B	55083	broad.mit.edu	37	1	245850699	245850699	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:245850699G>A	ENST00000407071.2	+	12	4854	c.4414G>A	c.(4414-4416)Gct>Act	p.A1472T	KIF26B_ENST00000366518.4_Missense_Mutation_p.A1091T	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1472					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCCCTCGAATGCTGAGACCAG	0.597																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(3271-3273)Gct>Act		kinesin family member 26B							20.0	24.0	22.0					1																	245850699		2139	4241	6380	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850699G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4414G>A	1.37:g.245850699G>A	ENSP00000385545:p.Ala1472Thr					KIF26B_ENST00000407071.2_Missense_Mutation_p.A1472T	p.A1091T			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	3375	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1472					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.3271G>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	G	0.443	-0.897712	0.02472	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76316	-1.01;-1.01	5.31	-2.06	0.07298	.	.	.	.	.	T	0.44222	0.1283	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	0.40831	-0.9542	9	0.02654	T	1	.	2.3286	0.04229	0.1211:0.233:0.4008:0.245	.	1091;1472	B7WPD9;Q2KJY2	.;KI26B_HUMAN	T	1472;1091;1088	ENSP00000385545:A1472T;ENSP00000355475:A1091T	ENSP00000355475:A1091T	A	+	1	0	KIF26B	243917322	0.334000	0.24739	0.000000	0.03702	0.001000	0.01503	0.244000	0.18124	-0.220000	0.09988	0.561000	0.74099	GCT		0.597	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		4	13	0	0	0	1	0	4	13				
CLUAP1	23059	broad.mit.edu	37	16	3580624	3580624	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:3580624G>C	ENST00000576634.1	+	10	1129	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q	CLUAP1_ENST00000417763.2_Missense_Mutation_p.E163Q|CLUAP1_ENST00000571025.1_Missense_Mutation_p.E329Q|CLUAP1_ENST00000341633.5_Missense_Mutation_p.E329Q|CLUAP1_ENST00000572600.1_Missense_Mutation_p.E163Q|CLUAP1_ENST00000445795.2_Missense_Mutation_p.E88Q	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	329					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						CAGTGAGTTGGAAGAAAGGCG	0.547																																						ENST00000571025.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						c.(985-987)Gaa>Caa		clusterin associated protein 1							81.0	67.0	71.0					16																	3580624		2197	4300	6497	SO:0001583	missense	23059					nucleus	protein binding	g.chr16:3580624G>C	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.985G>C	16.37:g.3580624G>C	ENSP00000460850:p.Glu329Gln					CLUAP1_ENST00000341633.5_Missense_Mutation_p.E329Q|CLUAP1_ENST00000572600.1_Missense_Mutation_p.E163Q|CLUAP1_ENST00000445795.2_Missense_Mutation_p.E88Q|CLUAP1_ENST00000576634.1_Missense_Mutation_p.E329Q|CLUAP1_ENST00000417763.2_Missense_Mutation_p.E163Q	p.E329Q			Q96AJ1	CLUA1_HUMAN			10	1035	+			329					O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	c.985G>C	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444759	0.63178	.	.	ENSG00000103351	ENST00000341633;ENST00000417763;ENST00000445795	T;T;T	0.49720	1.55;0.87;0.77	5.57	5.57	0.84162	.	0.148628	0.64402	D	0.000012	T	0.63628	0.2527	L	0.60455	1.87	0.80722	D	1	D;D;D	0.69078	0.984;0.973;0.997	P;P;D	0.75484	0.791;0.623;0.986	T	0.55854	-0.8075	10	0.18276	T	0.48	-32.7776	17.0494	0.86514	0.0:0.0:1.0:0.0	.	163;329;88	Q96AJ1-2;Q96AJ1;B4DFY1	.;CLUA1_HUMAN;.	Q	329;163;88	ENSP00000344392:E329Q;ENSP00000388642:E163Q;ENSP00000397710:E88Q	ENSP00000344392:E329Q	E	+	1	0	CLUAP1	3520625	1.000000	0.71417	0.985000	0.45067	0.852000	0.48524	7.860000	0.86993	2.639000	0.89480	0.549000	0.68633	GAA		0.547	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793		14	31	0	0	0	1	0	14	31				
SIPA1	6494	broad.mit.edu	37	11	65417892	65417892	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:65417892C>G	ENST00000394224.3	+	15	3220	c.2924C>G	c.(2923-2925)tCa>tGa	p.S975*	SIPA1_ENST00000394227.3_Nonsense_Mutation_p.S873*|SIPA1_ENST00000534313.1_Nonsense_Mutation_p.S975*|SIPA1_ENST00000527525.1_Nonsense_Mutation_p.S873*|MIR4489_ENST00000578869.1_RNA	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	975					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						GGGAACCTCTCAGAGAAGGTC	0.622																																						ENST00000394224.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						c.(2923-2925)tCa>tGa		signal-induced proliferation-associated 1							67.0	72.0	70.0					11																	65417892		2201	4297	6498	SO:0001587	stop_gained	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.chr11:65417892C>G	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.2924C>G	11.37:g.65417892C>G	ENSP00000377771:p.Ser975*					SIPA1_ENST00000394227.3_Nonsense_Mutation_p.S873*|SIPA1_ENST00000527525.1_Nonsense_Mutation_p.S873*|SIPA1_ENST00000534313.1_Nonsense_Mutation_p.S975*	p.S975*	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN			15	3220	+			975					O14518|O60484|O60618|Q2YD83	Nonsense_Mutation	SNP	ENST00000394224.3	37	c.2924C>G	CCDS8108.1	.	.	.	.	.	.	.	.	.	.	C	40	8.285419	0.98742	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	.	.	.	4.39	3.46	0.39613	.	0.284392	0.24156	U	0.041038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.3296	8.6381	0.33962	0.0:0.8896:0.0:0.1104	.	.	.	.	X	975;873;975;873	.	ENSP00000377771:S975X	S	+	2	0	SIPA1	65174468	0.995000	0.38212	0.719000	0.30619	0.933000	0.57130	4.221000	0.58574	0.825000	0.34637	0.313000	0.20887	TCA		0.622	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390356.1	NM_006747		10	94	0	0	0	1	0	10	94				
PTK2B	2185	broad.mit.edu	37	8	27291621	27291621	+	Missense_Mutation	SNP	C	C	T	rs370030419		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:27291621C>T	ENST00000397501.1	+	17	1925	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	PTK2B_ENST00000544172.1_Missense_Mutation_p.R373W|PTK2B_ENST00000338238.4_Missense_Mutation_p.R373W|PTK2B_ENST00000517339.1_Missense_Mutation_p.R373W|PTK2B_ENST00000346049.5_Missense_Mutation_p.R373W|PTK2B_ENST00000420218.2_Missense_Mutation_p.R373W|PTK2B_ENST00000397497.4_Missense_Mutation_p.R119W	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	373					activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TGGTGAGAAGCGGAACAGCCT	0.562																																						ENST00000397501.1																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1117-1119)Cgg>Tgg		protein tyrosine kinase 2 beta		C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	122.0	114.0	117.0		1117,1117,1117,1117	2.2	1.0	8		117	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PTK2B	NM_004103.4,NM_173174.2,NM_173175.2,NM_173176.2	101,101,101,101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	373/1010,373/1010,373/968,373/1010	27291621	2,13004	2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27291621C>T	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1117C>T	8.37:g.27291621C>T	ENSP00000380638:p.Arg373Trp					PTK2B_ENST00000544172.1_Missense_Mutation_p.R373W|PTK2B_ENST00000397497.4_Missense_Mutation_p.R119W|PTK2B_ENST00000517339.1_Missense_Mutation_p.R373W|PTK2B_ENST00000420218.2_Missense_Mutation_p.R373W|PTK2B_ENST00000346049.5_Missense_Mutation_p.R373W|PTK2B_ENST00000338238.4_Missense_Mutation_p.R373W	p.R373W	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	17	1925	+		Ovarian(32;2.72e-05)	373					D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.1117C>T	CCDS6057.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.14|19.14	3.768905|3.768905	0.69878|0.69878	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000120899|ENSG00000120899	ENST00000519512|ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	.|T;T;T;T;T;T;T	.|0.75260	.|-0.92;-0.9;-0.92;-0.92;-0.9;-0.9;-0.91	5.22|5.22	2.17|2.17	0.27698|0.27698	.|.	.|0.295781	.|0.33895	.|N	.|0.004442	D|D	0.83454|0.83454	0.5258|0.5258	M|M	0.75447|0.75447	2.3|2.3	0.58432|0.58432	D|D	0.999996|0.999996	.|P;B;D;P	.|0.89917	.|0.595;0.071;1.0;0.595	.|B;B;D;B	.|0.70016	.|0.072;0.016;0.967;0.112	T|T	0.82808|0.82808	-0.0274|-0.0274	5|10	.|0.66056	.|D	.|0.02	.|.	12.0269|12.0269	0.53375|0.53375	0.6236:0.3764:0.0:0.0|0.6236:0.3764:0.0:0.0	.|.	.|378;119;373;373	.|Q59GM4;E9PBI4;Q14289-2;Q14289	.|.;.;.;FAK2_HUMAN	V|W	133|373;378;373;373;373;373;373;119	.|ENSP00000380638:R373W;ENSP00000342242:R373W;ENSP00000440926:R373W;ENSP00000332816:R373W;ENSP00000391995:R373W;ENSP00000427931:R373W;ENSP00000380634:R119W	.|ENSP00000342242:R373W	A|R	+|+	2|1	0|2	PTK2B|PTK2B	27347538|27347538	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	0.143000|0.143000	0.16115|0.16115	0.112000|0.112000	0.17975|0.17975	0.655000|0.655000	0.94253|0.94253	GCG|CGG		0.562	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		16	108	0	0	0	1	0	16	108				
BEGAIN	57596	broad.mit.edu	37	14	101004846	101004846	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:101004846C>G	ENST00000355173.2	-	7	1313	c.1242G>C	c.(1240-1242)atG>atC	p.M414I	BEGAIN_ENST00000443071.2_Missense_Mutation_p.M414I|BEGAIN_ENST00000556751.1_Missense_Mutation_p.M350I|CTD-2062F14.3_ENST00000553301.1_lincRNA	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	414						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				ACTGGCCCCTCATGTCCTCCC	0.726																																					NSCLC(159;1889 2010 9965 27479 40101)	ENST00000556751.1																			0				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14						c.(1048-1050)atG>atC		brain-enriched guanylate kinase-associated							6.0	9.0	8.0					14																	101004846		2119	4209	6328	SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101004846C>G	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.1242G>C	14.37:g.101004846C>G	ENSP00000347301:p.Met414Ile					BEGAIN_ENST00000355173.2_Missense_Mutation_p.M414I|BEGAIN_ENST00000443071.2_Missense_Mutation_p.M414I	p.M350I			Q9BUH8	BEGIN_HUMAN			5	4454	-		Melanoma(154;0.212)	414					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.1050G>C	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	C	0.990	-0.694372	0.03303	.	.	ENSG00000183092	ENST00000355173;ENST00000556751;ENST00000443071	.	.	.	4.42	2.25	0.28309	.	0.762931	0.12109	N	0.498754	T	0.14874	0.0359	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24977	-1.0145	9	0.30854	T	0.27	.	5.1338	0.14924	0.1334:0.4468:0.3394:0.0804	.	414	Q9BUH8	BEGIN_HUMAN	I	414;350;414	.	ENSP00000347301:M414I	M	-	3	0	BEGAIN	100074599	0.045000	0.20229	0.071000	0.20095	0.010000	0.07245	-0.574000	0.05868	0.101000	0.17610	0.455000	0.32223	ATG		0.726	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		3	26	0	0	0	1	0	3	26				
GOPC	57120	broad.mit.edu	37	6	117890829	117890829	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:117890829C>T	ENST00000368498.2	-	7	1058	c.983G>A	c.(982-984)gGa>gAa	p.G328E	GOPC_ENST00000052569.6_Missense_Mutation_p.G320E|DCBLD1_ENST00000296955.8_3'UTR|GOPC_ENST00000535237.1_Missense_Mutation_p.G328E|GOPC_ENST00000467125.1_5'UTR	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	328	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		GTGCAGCCCTCCGCATCTATC	0.458			O	ROS1	glioblastoma																																	ENST00000535237.1				Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma	GOPC/ROS1(14)	0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(982-984)gGa>gAa		golgi-associated PDZ and coiled-coil motif containing							190.0	188.0	188.0					6																	117890829		2203	4300	6503	SO:0001583	missense	57120							g.chr6:117890829C>T	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.983G>A	6.37:g.117890829C>T	ENSP00000357484:p.Gly328Glu					GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000368498.2_Missense_Mutation_p.G328E|GOPC_ENST00000052569.6_Missense_Mutation_p.G320E|DCBLD1_ENST00000296955.8_3'UTR	p.G328E						GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	7	1212	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)						A6NM30|Q59FS4|Q969U8	Missense_Mutation	SNP	ENST00000368498.2	37	c.983G>A	CCDS5117.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038195	0.93630	.	.	ENSG00000047932	ENST00000052569;ENST00000368498;ENST00000535237	T;T;T	0.72505	-0.66;-0.66;-0.66	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.053595	0.85682	D	0.000000	T	0.72415	0.3457	M	0.84326	2.69	0.80722	D	1	P;P;P	0.44776	0.811;0.843;0.735	B;P;B	0.44772	0.331;0.46;0.331	T	0.73685	-0.3905	10	0.36615	T	0.2	-3.515	19.9145	0.97053	0.0:1.0:0.0:0.0	.	320;328;328	Q9HD26-2;Q9HD26;F5H1Y4	.;GOPC_HUMAN;.	E	320;328;328	ENSP00000052569:G320E;ENSP00000357484:G328E;ENSP00000445690:G328E	ENSP00000052569:G320E	G	-	2	0	GOPC	117997522	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.794000	0.85869	2.707000	0.92482	0.557000	0.71058	GGA		0.458	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		33	196	0	0	0	1	0	33	196				
LRP6	4040	broad.mit.edu	37	12	12334167	12334167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:12334167G>A	ENST00000261349.4	-	6	1259	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	LRP6_ENST00000543091.1_Nonsense_Mutation_p.Q395*	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	395	Beta-propeller 2.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACCACAAACTGACTGCCAGAT	0.468																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(1183-1185)Cag>Tag		low density lipoprotein receptor-related protein 6							202.0	165.0	178.0					12																	12334167		2203	4300	6503	SO:0001587	stop_gained	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12334167G>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1183C>T	12.37:g.12334167G>A	ENSP00000261349:p.Gln395*					LRP6_ENST00000543091.1_Nonsense_Mutation_p.Q395*	p.Q395*	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			6	1259	-		Prostate(47;0.0865)	395			Beta-propeller 2.		Q17RZ2	Nonsense_Mutation	SNP	ENST00000261349.4	37	c.1183C>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	G	36	5.700716	0.96802	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	19.879	0.96888	0.0:0.0:1.0:0.0	.	.	.	.	X	395	.	ENSP00000261349:Q395X	Q	-	1	0	LRP6	12225434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.876000	0.87215	2.695000	0.91970	0.655000	0.94253	CAG		0.468	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			13	106	0	0	0	1	0	13	106				
RNASE9	390443	broad.mit.edu	37	14	21024726	21024726	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:21024726C>A	ENST00000557068.1	-	4	2228	c.503G>T	c.(502-504)tGt>tTt	p.C168F	RNASE9_ENST00000557209.1_Missense_Mutation_p.C173F|RNASE9_ENST00000554964.1_Missense_Mutation_p.C168F|RNASE9_ENST00000556208.1_Missense_Mutation_p.C173F|RNASE9_ENST00000404716.3_Missense_Mutation_p.C173F|RNASE9_ENST00000555230.1_Missense_Mutation_p.C168F|RNASE9_ENST00000553541.1_Missense_Mutation_p.C168F|RNASE9_ENST00000553706.1_Missense_Mutation_p.C173F|RNASE9_ENST00000429244.2_Missense_Mutation_p.C168F|RNASE9_ENST00000338904.3_Missense_Mutation_p.C168F			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	168						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TTGCCATGAACAAGTGATAAG	0.388																																						ENST00000557068.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8						c.(502-504)tGt>tTt		ribonuclease, RNase A family, 9 (non-active)							129.0	107.0	114.0					14																	21024726		2203	4300	6503	SO:0001583	missense	390443					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21024726C>A	AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.503G>T	14.37:g.21024726C>A	ENSP00000451565:p.Cys168Phe					RNASE9_ENST00000557209.1_Missense_Mutation_p.C173F|RNASE9_ENST00000429244.2_Missense_Mutation_p.C168F|RNASE9_ENST00000556208.1_Missense_Mutation_p.C173F|RNASE9_ENST00000553706.1_Missense_Mutation_p.C173F|RNASE9_ENST00000338904.3_Missense_Mutation_p.C168F|RNASE9_ENST00000553541.1_Missense_Mutation_p.C168F|RNASE9_ENST00000554964.1_Missense_Mutation_p.C168F|RNASE9_ENST00000555230.1_Missense_Mutation_p.C168F|RNASE9_ENST00000404716.3_Missense_Mutation_p.C173F	p.C168F			P60153	RNAS9_HUMAN	Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)	4	2228	-	all_cancers(95;0.00238)		168					A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Missense_Mutation	SNP	ENST00000557068.1	37	c.503G>T	CCDS32036.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465329	0.43839	.	.	ENSG00000188655	ENST00000338904;ENST00000554964;ENST00000555230;ENST00000557068;ENST00000404716;ENST00000556208;ENST00000553541;ENST00000429244;ENST00000553706;ENST00000557209	D;D;D;D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	3.73	3.73	0.42828	Ribonuclease A, domain (3);	.	.	.	.	D	0.90270	0.6957	L	0.61218	1.895	0.22305	N	0.999218	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80795	-0.1223	9	0.87932	D	0	-20.1908	11.3325	0.49484	0.0:1.0:0.0:0.0	.	168;173	P60153;P60153-2	RNAS9_HUMAN;.	F	168;168;168;168;173;173;168;168;173;173	ENSP00000340162:C168F;ENSP00000450599:C168F;ENSP00000450800:C168F;ENSP00000451565:C168F;ENSP00000384683:C173F;ENSP00000451160:C173F;ENSP00000451285:C168F;ENSP00000409504:C168F;ENSP00000450570:C173F;ENSP00000450987:C173F	ENSP00000340162:C168F	C	-	2	0	RNASE9	20094566	0.810000	0.29049	0.156000	0.22583	0.009000	0.06853	2.535000	0.45685	2.380000	0.81148	0.591000	0.81541	TGT		0.388	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411094.1	NM_001001673		5	34	1	0	0.014758	1	0.014927	5	34				
MIS18BP1	55320	broad.mit.edu	37	14	45686255	45686255	+	Silent	SNP	G	G	A	rs374195002		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:45686255G>A	ENST00000310806.4	-	13	3428	c.2970C>T	c.(2968-2970)ttC>ttT	p.F990F		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	990					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GTGTTGTACTGAAAAAATCAT	0.338																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2968-2970)ttC>ttT		MIS18 binding protein 1							174.0	159.0	164.0					14																	45686255		2203	4300	6503	SO:0001819	synonymous_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45686255G>A	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2970C>T	14.37:g.45686255G>A							p.F990F	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			13	3428	-			990					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Silent	SNP	ENST00000310806.4	37	c.2970C>T	CCDS9684.1																																																																																				0.338	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			14	98	0	0	0	1	0	14	98				
SPATA2L	124044	broad.mit.edu	37	16	89764256	89764256	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:89764256G>A	ENST00000289805.5	-	3	829	c.761C>T	c.(760-762)cCg>cTg	p.P254L	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	254										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGCTCCGCCGGGGGCGAGTC	0.692																																						ENST00000289805.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(760-762)cCg>cTg		spermatogenesis associated 2-like							11.0	11.0	11.0					16																	89764256		2188	4270	6458	SO:0001583	missense	124044							g.chr16:89764256G>A	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.761C>T	16.37:g.89764256G>A	ENSP00000289805:p.Pro254Leu					SPATA2L_ENST00000335360.7_Intron	p.P254L	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	829	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	254					D3DX85|Q8NHV3	Missense_Mutation	SNP	ENST00000289805.5	37	c.761C>T	CCDS10985.1	.	.	.	.	.	.	.	.	.	.	G	6.249	0.414107	0.11870	.	.	ENSG00000158792	ENST00000289805	.	.	.	4.99	2.93	0.34026	.	1.033800	0.07640	N	0.930082	T	0.22085	0.0532	L	0.27053	0.805	0.09310	N	0.999996	P	0.39022	0.655	B	0.25759	0.063	T	0.12656	-1.0539	9	0.52906	T	0.07	.	7.9807	0.30181	0.0:0.1764:0.6408:0.1828	.	254	Q8IUW3	SPA2L_HUMAN	L	254	.	ENSP00000289805:P254L	P	-	2	0	SPATA2L	88291757	0.466000	0.25823	0.000000	0.03702	0.003000	0.03518	3.012000	0.49575	0.450000	0.26774	0.462000	0.41574	CCG		0.692	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		6	18	0	0	0	1	0	6	18				
ZNF878	729747	broad.mit.edu	37	19	12155088	12155088	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:12155088G>A	ENST00000547628.1	-	4	1265	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000602107.1_Silent_p.F423F|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGGAAGAAGTGAAGGTTTTCC	0.423																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1267-1269)ttC>ttT		zinc finger protein 878							47.0	51.0	50.0					19																	12155088		2202	4300	6502	SO:0001819	synonymous_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155088G>A		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.1128C>T	19.37:g.12155088G>A						CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Silent_p.F376F	p.F423F			C9JN71	ZN878_HUMAN			5	1268	-			376						Silent	SNP	ENST00000547628.1	37	c.1269C>T	CCDS45984.2																																																																																				0.423	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		10	48	0	0	0	1	0	10	48				
ANKRD50	57182	broad.mit.edu	37	4	125590426	125590426	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:125590426G>C	ENST00000504087.1	-	4	5043	c.4006C>G	c.(4006-4008)Cag>Gag	p.Q1336E	ANKRD50_ENST00000515641.1_Missense_Mutation_p.Q1157E	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1336								p.Q1336*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTTCCTGCTGAGCTGAAGGT	0.403																																						ENST00000504087.1																			1	Substitution - Nonsense(1)	p.Q1336*(1)	endometrium(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(4006-4008)Cag>Gag		ankyrin repeat domain 50							175.0	166.0	169.0					4																	125590426		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125590426G>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.4006C>G	4.37:g.125590426G>C	ENSP00000425658:p.Gln1336Glu					ANKRD50_ENST00000515641.1_Missense_Mutation_p.Q1157E	p.Q1336E	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	5043	-			1336					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.4006C>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135995	0.37728	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66638	-0.22;-0.18	5.35	4.5	0.54988	.	0.285739	0.35320	N	0.003286	T	0.48822	0.1521	N	0.19112	0.55	0.25165	N	0.990328	B	0.16396	0.017	B	0.09377	0.004	T	0.23013	-1.0200	10	0.15499	T	0.54	.	13.2914	0.60272	0.0767:0.0:0.9233:0.0	.	1336	Q9ULJ7	ANR50_HUMAN	E	1336;1157	ENSP00000425658:Q1336E;ENSP00000425355:Q1157E	ENSP00000425658:Q1336E	Q	-	1	0	ANKRD50	125809876	1.000000	0.71417	0.546000	0.28166	0.934000	0.57294	5.640000	0.67875	1.466000	0.48025	0.555000	0.69702	CAG		0.403	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		14	109	0	0	0	1	0	14	109				
SYNE2	23224	broad.mit.edu	37	14	64596788	64596788	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:64596788G>A	ENST00000344113.4	+	76	14374	c.14162G>A	c.(14161-14163)gGa>gAa	p.G4721E	SYNE2_ENST00000394768.2_Missense_Mutation_p.G1106E|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.G1106E|SYNE2_ENST00000554584.1_Missense_Mutation_p.G4638E|SYNE2_ENST00000555002.1_Missense_Mutation_p.G1355E|SYNE2_ENST00000358025.3_Missense_Mutation_p.G4721E	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4721					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTATGTGGGGAATGCTAAGA	0.478																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(3316-3318)gGa>gAa		spectrin repeat containing, nuclear envelope 2							87.0	78.0	81.0					14																	64596788		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64596788G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14162G>A	14.37:g.64596788G>A	ENSP00000341781:p.Gly4721Glu					ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Missense_Mutation_p.G4638E|SYNE2_ENST00000394768.2_Missense_Mutation_p.G1106E|SYNE2_ENST00000344113.4_Missense_Mutation_p.G4721E|SYNE2_ENST00000555002.1_Missense_Mutation_p.G1355E|SYNE2_ENST00000358025.3_Missense_Mutation_p.G4721E	p.G1106E			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	77	14461	+			4721					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.3317G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	9.984	1.229041	0.22542	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.56776	1.55;1.55;1.55;0.44;1.55;1.55	5.82	2.89	0.33648	.	0.504369	0.17894	N	0.158403	T	0.52058	0.1711	L	0.50919	1.6	0.80722	D	1	B;B;D	0.56746	0.171;0.193;0.977	B;B;P	0.55923	0.137;0.089;0.787	T	0.51934	-0.8642	10	0.07175	T	0.84	.	8.0331	0.30476	0.1376:0.2671:0.5953:0.0	.	1106;4721;4721	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	E	4721;1106;4721;4638;4638;1355;1106	ENSP00000350719:G4721E;ENSP00000349969:G1106E;ENSP00000341781:G4721E;ENSP00000452570:G4638E;ENSP00000450831:G1355E;ENSP00000378249:G1106E	ENSP00000261678:G4638E	G	+	2	0	SYNE2	63666541	0.934000	0.31675	0.411000	0.26484	0.561000	0.35649	1.210000	0.32370	0.324000	0.23333	0.655000	0.94253	GGA		0.478	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		23	51	0	0	0	1	0	23	51				
ZBTB37	84614	broad.mit.edu	37	1	173839393	173839393	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:173839393G>T	ENST00000367701.5	+	2	221	c.30G>T	c.(28-30)gaG>gaT	p.E10D	ZBTB37_ENST00000427304.1_Missense_Mutation_p.E10D|ZBTB37_ENST00000367702.1_Missense_Mutation_p.E10D|ZBTB37_ENST00000367704.1_Missense_Mutation_p.E10D|ZBTB37_ENST00000432989.1_Missense_Mutation_p.E10D|GAS5_ENST00000364084.1_RNA			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TACAATTGGAGATTCCTGACT	0.433																																						ENST00000367704.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						c.(28-30)gaG>gaT		zinc finger and BTB domain containing 37							60.0	56.0	57.0					1																	173839393		2203	4300	6503	SO:0001583	missense	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173839393G>T	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.30G>T	1.37:g.173839393G>T	ENSP00000356674:p.Glu10Asp					ZBTB37_ENST00000427304.1_Missense_Mutation_p.E10D|ZBTB37_ENST00000367701.4_Missense_Mutation_p.E10D|ZBTB37_ENST00000367702.1_Missense_Mutation_p.E10D|ZBTB37_ENST00000432989.1_Missense_Mutation_p.E10D	p.E10D			Q5TC79	ZBT37_HUMAN			3	429	+			10					Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	c.30G>T	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	G	2.788	-0.251991	0.05829	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367701	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.6	5.6	0.85130	BTB/POZ fold (2);	0.045330	0.85682	D	0.000000	T	0.69324	0.3098	L	0.58354	1.805	0.45607	D	0.998549	D;B	0.58268	0.982;0.003	D;B	0.67548	0.952;0.016	T	0.66520	-0.5903	10	0.13853	T	0.58	.	10.1235	0.42634	0.1478:0.0:0.8522:0.0	.	10;10	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	D	10	ENSP00000356677:E10D;ENSP00000415293:E10D;ENSP00000409408:E10D;ENSP00000356675:E10D;ENSP00000356674:E10D	ENSP00000356674:E10D	E	+	3	2	ZBTB37	172106016	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.088000	0.50175	2.652000	0.90054	0.563000	0.77884	GAG		0.433	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		5	31	1	0	0.014758	1	0.014927	5	31				
PRSS38	339501	broad.mit.edu	37	1	228003458	228003458	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:228003458C>T	ENST00000366757.3	+	1	65	c.41C>T	c.(40-42)tCt>tTt	p.S14F		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	14						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCGGGCCCTCTGCCCTGGGC	0.667																																						ENST00000366757.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(40-42)tCt>tTt		protease, serine, 38							24.0	26.0	26.0					1																	228003458		2203	4299	6502	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228003458C>T		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.41C>T	1.37:g.228003458C>T	ENSP00000355719:p.Ser14Phe						p.S14F	NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN			1	65	+			14					Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.41C>T	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	C	2.422	-0.332843	0.05314	.	.	ENSG00000185888	ENST00000366757	D	0.89050	-2.46	1.78	-3.55	0.04639	.	.	.	.	.	T	0.71779	0.3380	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52601	-0.8554	9	0.48119	T	0.1	.	2.3424	0.04263	0.1443:0.4813:0.1447:0.2297	.	14	A1L453	PRS38_HUMAN	F	14	ENSP00000355719:S14F	ENSP00000355719:S14F	S	+	2	0	PRSS38	226070081	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.367000	0.20382	-2.167000	0.00779	-2.018000	0.00433	TCT		0.667	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		10	32	0	0	0	1	0	10	32				
ATF4	468	broad.mit.edu	37	22	39917519	39917519	+	Silent	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr22:39917519G>C	ENST00000337304.2	+	1	951	c.69G>C	c.(67-69)tcG>tcC	p.S23S	ATF4_ENST00000404241.2_Silent_p.S23S|ATF4_ENST00000396680.1_Silent_p.S23S	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	23					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	TCGACCAGTCGGGTTTGGGGG	0.552																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(67-69)tcG>tcC		activating transcription factor 4							64.0	64.0	64.0					22																	39917519		2203	4300	6503	SO:0001819	synonymous_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917519G>C	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.69G>C	22.37:g.39917519G>C						ATF4_ENST00000396680.1_Silent_p.S23S|ATF4_ENST00000404241.2_Silent_p.S23S	p.S23S	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN			1	951	+	Melanoma(58;0.04)		23					Q9UH31	Silent	SNP	ENST00000337304.2	37	c.69G>C	CCDS13996.1																																																																																				0.552	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		18	137	0	0	0	1	0	18	137				
CADM2	253559	broad.mit.edu	37	3	85851334	85851334	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:85851334G>C	ENST00000407528.2	+	2	261	c.199G>C	c.(199-201)Gac>Cac	p.D67H	CADM2_ENST00000383699.3_Missense_Mutation_p.D76H|CADM2-AS2_ENST00000467225.1_RNA|CADM2_ENST00000405615.2_Missense_Mutation_p.D69H	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	67	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TCTGTACTTTGACGACAAGAA	0.343																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(226-228)Gac>Cac		cell adhesion molecule 2							59.0	52.0	54.0					3																	85851334		2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85851334G>C	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.199G>C	3.37:g.85851334G>C	ENSP00000384575:p.Asp67His					CADM2_ENST00000407528.2_Missense_Mutation_p.D67H|CADM2_ENST00000405615.2_Missense_Mutation_p.D69H|CADM2-AS2_ENST00000467225.1_RNA	p.D76H	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	3	853	+		Lung NSC(201;0.0148)	67			Ig-like V-type.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.226G>C	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118534	0.77323	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.33865	1.39;1.39;1.39	5.27	5.27	0.74061	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.169036	0.51477	D	0.000081	T	0.40886	0.1135	N	0.19112	0.55	0.58432	D	0.999996	D;D;D	0.67145	0.986;0.97;0.996	P;P;P	0.56398	0.761;0.607;0.797	T	0.17077	-1.0381	10	0.33940	T	0.23	.	19.2384	0.93871	0.0:0.0:1.0:0.0	.	69;76;67	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	H	76;67;69	ENSP00000373200:D76H;ENSP00000384575:D67H;ENSP00000384193:D69H	ENSP00000373200:D76H	D	+	1	0	CADM2	85934024	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.420000	0.97426	2.621000	0.88768	0.544000	0.68410	GAC		0.343	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		7	40	0	0	0	1	0	7	40				
FRYL	285527	broad.mit.edu	37	4	48546828	48546828	+	Silent	SNP	C	C	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:48546828C>A	ENST00000503238.1	-	40	5372	c.5373G>T	c.(5371-5373)gtG>gtT	p.V1791V	FRYL_ENST00000358350.4_Silent_p.V1791V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Silent_p.V1791V|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	1791					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAACAGAAACCACATGTTTCA	0.338																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(5371-5373)gtG>gtT		FRY-like							81.0	78.0	79.0					4																	48546828		1814	4069	5883	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48546828C>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.5373G>T	4.37:g.48546828C>A						FRYL_ENST00000503238.1_Silent_p.V1791V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Silent_p.V1791V	p.V1791V			O94915	FRYL_HUMAN			43	5977	-			1791					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.5373G>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	8.674	0.903435	0.17760	.	.	ENSG00000075539	ENST00000514617	.	.	.	5.79	3.08	0.35506	.	.	.	.	.	T	0.56775	0.2008	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48387	-0.9040	4	.	.	.	.	7.5528	0.27806	0.1123:0.4979:0.3271:0.0627	.	.	.	.	C	661	.	.	G	-	1	0	FRYL	48241585	0.996000	0.38824	0.999000	0.59377	0.990000	0.78478	0.501000	0.22578	0.330000	0.23485	-0.137000	0.14449	GGT		0.338	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			13	36	1	0	5.50884e-06	1	5.77013e-06	13	36				
TRPS1	7227	broad.mit.edu	37	8	116631647	116631647	+	Silent	SNP	T	T	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:116631647T>G	ENST00000220888.5	-	2	798	c.639A>C	c.(637-639)gcA>gcC	p.A213A	TRPS1_ENST00000519674.1_Silent_p.A213A|TRPS1_ENST00000395715.3_Silent_p.A226A|TRPS1_ENST00000519076.1_Silent_p.A167A|TRPS1_ENST00000520276.1_Silent_p.A217A			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	213					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGACAGAGGTGCCGGGTCTG	0.458									Langer-Giedion syndrome																													ENST00000395715.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(676-678)gcA>gcC		trichorhinophalangeal syndrome I							127.0	129.0	129.0					8																	116631647		1981	4193	6174	SO:0001819	synonymous_variant	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631647T>G	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.639A>C	8.37:g.116631647T>G						TRPS1_ENST00000519076.1_Silent_p.A167A|TRPS1_ENST00000519674.1_Silent_p.A213A|TRPS1_ENST00000220888.5_Silent_p.A213A|TRPS1_ENST00000520276.1_Silent_p.A217A	p.A226A	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		3	1255	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		213					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Silent	SNP	ENST00000220888.5	37	c.678A>C																																																																																					0.458	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		23	201	0	0	0	1	0	23	201				
KCTD12	115207	broad.mit.edu	37	13	77460092	77460092	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr13:77460092G>A	ENST00000377474.2	-	1	433	c.192C>T	c.(190-192)ttC>ttT	p.F64F	AC000403.1_ENST00000579275.1_RNA|KCTD12_ENST00000317765.2_Silent_p.F64F	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	64					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GCTGCTGCGTGAACATGCGCC	0.662																																						ENST00000377474.2																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(190-192)ttC>ttT		potassium channel tetramerization domain containing 12							16.0	13.0	14.0					13																	77460092		2170	4248	6418	SO:0001819	synonymous_variant	115207					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr13:77460092G>A	AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"""predominantly fetal expressed T1 domain"""	610521	"""chromosome 13 open reading frame 2"", ""potassium channel tetramerisation domain containing 12"""	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.192C>T	13.37:g.77460092G>A						KCTD12_ENST00000317765.2_Silent_p.F64F	p.F64F	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN		GBM - Glioblastoma multiforme(99;0.0499)	1	433	-		Breast(118;0.212)	64						Silent	SNP	ENST00000377474.2	37	c.192C>T	CCDS9455.1																																																																																				0.662	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045309.2	NM_138444		5	12	0	0	0	1	0	5	12				
CACNA2D1	781	broad.mit.edu	37	7	81978949	81978949	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:81978949C>G	ENST00000356253.5	-	2	367	c.112G>C	c.(112-114)Gat>Cat	p.D38H	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.D38H|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.D38H			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	38					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGCATCTTATCCACCCATGAT	0.368																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(112-114)Gat>Cat		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						187.0	170.0	176.0					7																	81978949		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81978949C>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.112G>C	7.37:g.81978949C>G	ENSP00000348589:p.Asp38His					CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D38H|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.D38H	p.D38H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			2	450	-			38					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.112G>C		.	.	.	.	.	.	.	.	.	.	C	21.9	4.215742	0.79352	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.24723	3.16;3.16;1.84	6.01	6.01	0.97437	.	0.076665	0.49305	D	0.000141	T	0.44808	0.1311	L	0.50333	1.59	0.80722	D	1	P	0.51147	0.942	P	0.58873	0.847	T	0.08743	-1.0707	10	0.56958	D	0.05	-25.9627	19.3532	0.94398	0.0:1.0:0.0:0.0	.	38	P54289-2	.	H	38	ENSP00000349320:D38H;ENSP00000348589:D38H;ENSP00000405395:D38H	ENSP00000284088:D38H	D	-	1	0	CACNA2D1	81816885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.319000	0.65835	2.873000	0.98535	0.644000	0.83932	GAT		0.368	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				11	71	0	0	0	1	0	11	71				
PCLO	27445	broad.mit.edu	37	7	82595703	82595703	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:82595703G>T	ENST00000333891.9	-	4	3738	c.3401C>A	c.(3400-3402)gCa>gAa	p.A1134E	PCLO_ENST00000423517.2_Missense_Mutation_p.A1134E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.A1134V(2)|p.A1073V(1)		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						CATAGGAGATGCTTTGGGTCC	0.423																																						ENST00000423517.2																			3	Substitution - Missense(3)	p.A1134V(2)|p.A1073V(1)	lung(3)	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.(3400-3402)gCa>gAa		piccolo presynaptic cytomatrix protein							122.0	120.0	121.0					7																	82595703		2024	4192	6216	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.chr7:82595703G>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.3401C>A	7.37:g.82595703G>T	ENSP00000334319:p.Ala1134Glu					PCLO_ENST00000333891.8_Missense_Mutation_p.A1134E	p.A1134E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	3738	-			1073						Missense_Mutation	SNP	ENST00000333891.9	37	c.3401C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584523	0.28268	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.35	5.59	4.71	0.59529	.	.	.	.	.	T	0.14614	0.0353	L	0.32530	0.975	0.80722	D	1	P;P	0.41848	0.763;0.763	B;B	0.36608	0.229;0.229	T	0.02617	-1.1133	9	0.87932	D	0	.	14.7665	0.69642	0.0695:0.0:0.9305:0.0	.	1134;1134	Q9Y6V0-5;Q9Y6V0-6	.;.	E	1073;1134;1134	ENSP00000334319:A1134E;ENSP00000388393:A1134E	ENSP00000334319:A1134E	A	-	2	0	PCLO	82433639	0.974000	0.33945	0.578000	0.28575	0.131000	0.20780	1.771000	0.38542	1.480000	0.48289	0.655000	0.94253	GCA		0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	76	1	0	0.00010058	1	0.000104524	13	76				
GLB1L	79411	broad.mit.edu	37	2	220102441	220102441	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:220102441C>T	ENST00000295759.7	-	16	1795	c.1482G>A	c.(1480-1482)ttG>ttA	p.L494L	GLB1L_ENST00000392089.2_Silent_p.L494L|GLB1L_ENST00000409640.1_Silent_p.L404L|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Silent_p.L404L			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	494					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGTGGCTTCAACAGGCCCT	0.433																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1480-1482)ttG>ttA		galactosidase, beta 1-like							69.0	71.0	70.0					2																	220102441		2203	4300	6503	SO:0001819	synonymous_variant	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220102441C>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1482G>A	2.37:g.220102441C>T						GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Silent_p.L404L|GLB1L_ENST00000356283.3_Silent_p.L404L|GLB1L_ENST00000392089.2_Silent_p.L494L	p.L494L			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	1795	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	494					Q96DR0	Silent	SNP	ENST00000295759.7	37	c.1482G>A	CCDS2437.1																																																																																				0.433	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		24	55	0	0	0	1	0	24	55				
FRY	10129	broad.mit.edu	37	13	32841311	32841311	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr13:32841311G>A	ENST00000380250.3	+	55	8447	c.7951G>A	c.(7951-7953)Gga>Aga	p.G2651R	FRY_ENST00000542859.1_Missense_Mutation_p.G21R	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2651						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTCCAGCTTTGGAGAAGGTGA	0.517																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(7951-7953)Gga>Aga		furry homolog (Drosophila)							105.0	107.0	106.0					13																	32841311		1966	4155	6121	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32841311G>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.7951G>A	13.37:g.32841311G>A	ENSP00000369600:p.Gly2651Arg					FRY_ENST00000542859.1_Missense_Mutation_p.G21R	p.G2651R	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	55	8447	+		Lung SC(185;0.0271)	2651					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.7951G>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908109	0.52333	.	.	ENSG00000073910	ENST00000380250;ENST00000380235;ENST00000542859	T	0.23950	1.88	5.29	5.29	0.74685	.	0.131561	0.52532	D	0.000071	T	0.26666	0.0652	L	0.58810	1.83	0.43782	D	0.996312	P;B	0.38582	0.638;0.132	B;B	0.27500	0.08;0.03	T	0.15694	-1.0428	10	0.72032	D	0.01	.	18.9517	0.92643	0.0:0.0:1.0:0.0	.	432;2651	Q8NB82;Q5TBA9	.;FRY_HUMAN	R	2651;295;21	ENSP00000369600:G2651R	ENSP00000369567:G295R	G	+	1	0	FRY	31739311	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	5.254000	0.65457	2.487000	0.83934	0.650000	0.86243	GGA		0.517	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		11	93	0	0	0	1	0	11	93				
GNB3	2784	broad.mit.edu	37	12	6952678	6952678	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:6952678C>G	ENST00000229264.3	+	7	824	c.419C>G	c.(418-420)tCt>tGt	p.S140C	CDCA3_ENST00000604599.1_5'Flank|GNB3_ENST00000435982.2_Missense_Mutation_p.S140C	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	140					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CGGGAGCTTTCTGCTCACACA	0.597																																						ENST00000229264.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(418-420)tCt>tGt		guanine nucleotide binding protein (G protein), beta polypeptide 3							110.0	103.0	105.0					12																	6952678		2203	4300	6503	SO:0001583	missense	2784				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6952678C>G		CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517	ENST00000229264.3:c.419C>G	12.37:g.6952678C>G	ENSP00000229264:p.Ser140Cys					GNB3_ENST00000435982.2_Missense_Mutation_p.S140C	p.S140C	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			7	824	+			140					Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.419C>G	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.540616	0.65085	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000541978;ENST00000435982;ENST00000537035	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	4.91	4.91	0.64330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.156361	0.56097	D	0.000027	T	0.76976	0.4063	M	0.87682	2.9	0.48696	D	0.999691	B;P	0.36315	0.158;0.547	P;P	0.51657	0.563;0.676	T	0.79860	-0.1625	10	0.62326	D	0.03	-20.1226	18.2971	0.90150	0.0:1.0:0.0:0.0	.	140;140	E9PCP0;P16520	.;GBB3_HUMAN	C	140	ENSP00000229264:S140C;ENSP00000442002:S140C;ENSP00000414734:S140C;ENSP00000445967:S140C	ENSP00000229264:S140C	S	+	2	0	GNB3	6822939	0.998000	0.40836	0.982000	0.44146	0.793000	0.44817	4.595000	0.61048	2.550000	0.86006	0.462000	0.41574	TCT		0.597	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1	NM_002075		22	94	0	0	0	1	0	22	94				
OR1S1	219959	broad.mit.edu	37	11	57982336	57982336	+	Silent	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:57982336C>G	ENST00000309433.6	+	1	120	c.120C>G	c.(118-120)ctC>ctG	p.L40L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	40						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(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AAAACCTCCTCTTTGTGCTTT	0.448																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(118-120)ctC>ctG		olfactory receptor, family 1, subfamily S, member 1							294.0	267.0	276.0					11																	57982336		2201	4296	6497	SO:0001819	synonymous_variant	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982336C>G	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.120C>G	11.37:g.57982336C>G							p.L40L	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	120	+		Breast(21;0.0589)	40					Q6IFG3	Silent	SNP	ENST00000309433.6	37	c.120C>G	CCDS31546.1																																																																																				0.448	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		43	110	0	0	0	1	0	43	110				
RASGRF1	5923	broad.mit.edu	37	15	79291097	79291097	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:79291097C>G	ENST00000419573.3	-	19	3139	c.2865G>C	c.(2863-2865)ttG>ttC	p.L955F	RASGRF1_ENST00000394745.3_Missense_Mutation_p.L171F|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.L939F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	955					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGAGCACGTTCAAGACACGAT	0.632																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2863-2865)ttG>ttC		Ras protein-specific guanine nucleotide-releasing factor 1							107.0	98.0	101.0					15																	79291097		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79291097C>G	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2865G>C	15.37:g.79291097C>G	ENSP00000405963:p.Leu955Phe					RASGRF1_ENST00000558480.2_Missense_Mutation_p.L939F|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Missense_Mutation_p.L171F	p.L955F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			19	3139	-			957					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2865G>C	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414981	0.62511	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.33865	1.39;1.39	4.74	1.73	0.24493	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.000000	0.64402	D	0.000008	T	0.56761	0.2007	M	0.82323	2.585	0.53005	D	0.999966	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.77004	0.989;0.958;0.969;0.97	T	0.54390	-0.8301	10	0.54805	T	0.06	.	7.9902	0.30235	0.0:0.6073:0.3057:0.0871	.	351;939;957;939	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	F	955;939;171	ENSP00000405963:L955F;ENSP00000378228:L171F	ENSP00000378224:L939F	L	-	3	2	RASGRF1	77078152	0.975000	0.34042	0.995000	0.50966	0.948000	0.59901	0.238000	0.18004	0.182000	0.20032	-0.229000	0.12294	TTG		0.632	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		14	88	0	0	0	1	0	14	88				
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(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.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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		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"""		267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(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.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(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						c.(526-528)tGc>tAc	Other conserved DNA damage response genes	tumor protein p53							49.0	49.0	49.0					17																	7578403		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.chr17:7578403C>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.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr	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_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y	p.C176Y	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	659	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	176		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.527G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	31	0	0	0	1	0	25	31				
ACACB	32	broad.mit.edu	37	12	109677702	109677702	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:109677702A>T	ENST00000338432.7	+	35	4849	c.4730A>T	c.(4729-4731)gAg>gTg	p.E1577V	ACACB_ENST00000377848.3_Missense_Mutation_p.E1577V|ACACB_ENST00000543201.1_Missense_Mutation_p.E243V|ACACB_ENST00000377854.5_Missense_Mutation_p.E1507V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1577					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GACGAGCTGGAGGTGGCGTTC	0.597																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4729-4731)gAg>gTg		acetyl-CoA carboxylase beta	Biotin(DB00121)						112.0	85.0	94.0					12																	109677702		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109677702A>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4730A>T	12.37:g.109677702A>T	ENSP00000341044:p.Glu1577Val					ACACB_ENST00000543201.1_Missense_Mutation_p.E243V|ACACB_ENST00000377848.3_Missense_Mutation_p.E1577V|ACACB_ENST00000377854.5_Missense_Mutation_p.E1507V	p.E1577V			O00763	ACACB_HUMAN			35	4849	+			1577					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.4730A>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.538766	0.85917	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	4.01	4.01	0.46588	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.79125	0.4393	M	0.91140	3.18	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.84625	0.0686	10	0.87932	D	0	.	13.6712	0.62427	1.0:0.0:0.0:0.0	.	1577	O00763	ACACB_HUMAN	V	1577;1577;1507;808;243	ENSP00000341044:E1577V;ENSP00000367079:E1577V;ENSP00000367085:E1507V;ENSP00000444075:E243V	ENSP00000341044:E1577V	E	+	2	0	ACACB	108162085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.094000	0.94168	1.780000	0.52325	0.459000	0.35465	GAG		0.597	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		16	82	0	0	0	1	0	16	82				
L3MBTL4	91133	broad.mit.edu	37	18	6239864	6239864	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr18:6239864G>C	ENST00000284898.6	-	9	760	c.560C>G	c.(559-561)cCa>cGa	p.P187R	L3MBTL4_ENST00000535782.1_5'UTR|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P187R|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P187R|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.P187R	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	187					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTTAGACATTGGCCCATTCTA	0.468																																					Esophageal Squamous(41;748 902 17366 28959 43175)	ENST00000400104.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(559-561)cCa>cGa		l(3)mbt-like 4 (Drosophila)							77.0	65.0	69.0					18																	6239864		2203	4300	6503	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6239864G>C	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.560C>G	18.37:g.6239864G>C	ENSP00000284898:p.Pro187Arg					L3MBTL4_ENST00000535782.1_5'UTR|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.P187R|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.P187R|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.P187R	p.P187R			Q8NA19	LMBL4_HUMAN			9	760	-		Colorectal(10;0.0249)	187					A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.560C>G	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043524	0.55003	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.45	4.57	0.56435	.	0.760271	0.11210	N	0.587807	T	0.35451	0.0932	L	0.55990	1.75	0.44168	D	0.996974	P;B	0.49961	0.93;0.128	B;B	0.36244	0.22;0.089	T	0.10989	-1.0606	10	0.24483	T	0.36	.	12.2902	0.54815	0.084:0.0:0.916:0.0	.	187;187	Q8NA19;F8W9S8	LMBL4_HUMAN;.	R	187	ENSP00000382976:P187R;ENSP00000318543:P187R;ENSP00000284898:P187R;ENSP00000382975:P187R	ENSP00000284898:P187R	P	-	2	0	L3MBTL4	6229864	0.847000	0.29606	0.052000	0.19188	0.724000	0.41520	3.145000	0.50623	1.285000	0.44548	0.591000	0.81541	CCA		0.468	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		15	64	0	0	0	1	0	15	64				
KAT6B	23522	broad.mit.edu	37	10	76739009	76739009	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:76739009G>A	ENST00000287239.4	+	10	2632	c.2143G>A	c.(2143-2145)Gac>Aac	p.D715N	KAT6B_ENST00000372714.1_Missense_Mutation_p.D423N|KAT6B_ENST00000372725.1_Missense_Mutation_p.D423N|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372724.1_Missense_Mutation_p.D423N|KAT6B_ENST00000372711.1_Missense_Mutation_p.D532N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	715	MYST-type HAT.|Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TGGGGTGGAAGACTGTGGCCG	0.378																																						ENST00000287239.4																			0											c.(2143-2145)Gac>Aac		K(lysine) acetyltransferase 6B							96.0	94.0	94.0					10																	76739009		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76739009G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.2143G>A	10.37:g.76739009G>A	ENSP00000287239:p.Asp715Asn					KAT6B_ENST00000372725.1_Missense_Mutation_p.D423N|KAT6B_ENST00000372724.1_Missense_Mutation_p.D423N|KAT6B_ENST00000372714.1_Missense_Mutation_p.D423N|KAT6B_ENST00000372711.1_Missense_Mutation_p.D532N|KAT6B_ENST00000490365.1_3'UTR	p.D715N	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			10	2632	+			715			Negatively regulates HAT activity.		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.2143G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104661	0.37145	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77098	-1.06;-1.06;-1.05;-1.06;-1.07	6.08	5.12	0.69794	.	0.274554	0.25267	N	0.031914	T	0.61502	0.2352	N	0.19112	0.55	0.41804	D	0.989933	B;B;B	0.31548	0.019;0.328;0.22	B;B;B	0.31101	0.031;0.124;0.086	T	0.63202	-0.6690	10	0.62326	D	0.03	-18.1169	7.0084	0.24849	0.1104:0.0:0.6718:0.2178	.	532;423;715	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	N	423;423;715;423;532	ENSP00000361810:D423N;ENSP00000361809:D423N;ENSP00000287239:D715N;ENSP00000361799:D423N;ENSP00000361796:D532N	ENSP00000287239:D715N	D	+	1	0	KAT6B	76409015	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.503000	0.45407	2.890000	0.99128	0.655000	0.94253	GAC		0.378	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		4	48	0	0	0	1	0	4	48				
RASIP1	54922	broad.mit.edu	37	19	49232825	49232825	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:49232825G>A	ENST00000222145.4	-	5	1406	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	401					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CTGCTCTCGCGTCATCACATA	0.557																																						ENST00000222145.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21						c.(1201-1203)aCg>aTg		Ras interacting protein 1							17.0	13.0	14.0					19																	49232825		2185	4285	6470	SO:0001583	missense	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49232825G>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1202C>T	19.37:g.49232825G>A	ENSP00000222145:p.Thr401Met					RASIP1_ENST00000594232.1_5'UTR	p.T401M	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	5	1406	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	401					Q6U676	Missense_Mutation	SNP	ENST00000222145.4	37	c.1202C>T	CCDS12731.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554834	0.65425	.	.	ENSG00000105538	ENST00000222145	T	0.07327	3.2	3.2	3.2	0.36748	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.252153	0.31472	N	0.007597	T	0.09686	0.0238	L	0.36672	1.1	0.39329	D	0.965373	D	0.60575	0.988	P	0.46320	0.512	T	0.13845	-1.0494	10	0.62326	D	0.03	-11.9658	12.2383	0.54528	0.0:0.0:1.0:0.0	.	401	Q5U651	RAIN_HUMAN	M	401	ENSP00000222145:T401M	ENSP00000222145:T401M	T	-	2	0	RASIP1	53924637	0.837000	0.29446	0.999000	0.59377	0.939000	0.58152	1.005000	0.29834	1.789000	0.52484	0.462000	0.41574	ACG		0.557	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1	NM_017805		3	15	0	0	0	1	0	3	15				
SLIT2	9353	broad.mit.edu	37	4	20535220	20535220	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:20535220G>A	ENST00000504154.1	+	18	1966	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	SLIT2_ENST00000503823.1_Missense_Mutation_p.D564N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D576N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D568N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	572					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						TAAGATCACAGATATTGAGGA	0.318																																						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.(1714-1716)Gat>Aat		slit homolog 2 (Drosophila)							90.0	92.0	91.0					4																	20535220		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20535220G>A	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.1714G>A	4.37:g.20535220G>A	ENSP00000422591:p.Asp572Asn					SLIT2_ENST00000503823.1_Missense_Mutation_p.D564N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D568N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D576N	p.D572N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			18	1966	+			572					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1714G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560664	0.86335	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	N	0.10916	0.065	0.80722	D	1	P;B	0.40534	0.72;0.433	P;B	0.44696	0.458;0.408	T	0.48328	-0.9045	10	0.45353	T	0.12	.	18.8776	0.92345	0.0:0.0:1.0:0.0	.	564;572	O94813-3;O94813	.;SLIT2_HUMAN	N	564;572;576;568;568	ENSP00000427548:D564N;ENSP00000422591:D572N;ENSP00000273739:D576N;ENSP00000422261:D568N	ENSP00000273739:D576N	D	+	1	0	SLIT2	20144318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.745000	0.98856	2.469000	0.83416	0.561000	0.74099	GAT		0.318	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			6	54	0	0	0	1	0	6	54				
PCDHA13	56136	broad.mit.edu	37	5	140263604	140263604	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:140263604C>T	ENST00000289272.2	+	1	1751	c.1751C>T	c.(1750-1752)tCg>tTg	p.S584L	PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S584L|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	584	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)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCGCGGTCGGTGGGTGCA	0.687																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1750-1752)tCg>tTg									56.0	62.0	60.0					5																	140263604		2201	4298	6499	SO:0001583	missense	56136							g.chr5:140263604C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1751C>T	5.37:g.140263604C>T	ENSP00000289272:p.Ser584Leu					PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S584L	p.S584L	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1751	+								O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1751C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247897	0.10130	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.21932	1.98;1.98	4.21	3.34	0.38264	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28067	0.0692	M	0.79123	2.44	0.09310	N	1	B;B;B	0.33549	0.143;0.417;0.27	B;B;B	0.37601	0.036;0.254;0.193	T	0.19614	-1.0300	9	0.56958	D	0.05	.	7.8329	0.29353	0.0:0.8054:0.0:0.1946	.	584;584;584	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	584	ENSP00000386821:S584L;ENSP00000289272:S584L	ENSP00000289272:S584L	S	+	2	0	PCDHA13	140243788	0.000000	0.05858	0.029000	0.17559	0.011000	0.07611	-0.392000	0.07314	0.959000	0.37980	-0.150000	0.13652	TCG		0.687	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		24	148	0	0	0	1	0	24	148				
PRPF40B	25766	broad.mit.edu	37	12	50037079	50037079	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:50037079C>T	ENST00000380281.1	+	22	2280	c.2216C>T	c.(2215-2217)tCa>tTa	p.S739L	PRPF40B_ENST00000548825.2_Missense_Mutation_p.S760L|PRPF40B_ENST00000261897.1_Missense_Mutation_p.S726L|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	739					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CGGAACCCCTCAGAGTCAGGC	0.607																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(2176-2178)tCa>tTa		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							73.0	79.0	77.0					12																	50037079		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50037079C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2216C>T	12.37:g.50037079C>T	ENSP00000369634:p.Ser739Leu					PRPF40B_ENST00000548825.2_Missense_Mutation_p.S760L|PRPF40B_ENST00000380281.1_Missense_Mutation_p.S739L|FMNL3_ENST00000335154.5_3'UTR	p.S726L			Q6NWY9	PR40B_HUMAN			22	2728	+			739					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.2177C>T		.	.	.	.	.	.	.	.	.	.	C	29.8	5.035539	0.93630	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.26223	1.76;1.75	5.28	5.28	0.74379	.	0.101855	0.42821	N	0.000645	T	0.56688	0.2002	M	0.84846	2.72	0.80722	D	1	D;D;D	0.61080	0.981;0.989;0.989	D;D;D	0.72625	0.95;0.978;0.978	T	0.60895	-0.7172	10	0.54805	T	0.06	-9.0206	18.0417	0.89321	0.0:1.0:0.0:0.0	.	739;726;738	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	L	726;739	ENSP00000261897:S726L;ENSP00000369634:S739L	ENSP00000261897:S726L	S	+	2	0	PRPF40B	48323346	1.000000	0.71417	0.988000	0.46212	0.960000	0.62799	5.746000	0.68681	2.649000	0.89929	0.561000	0.74099	TCA		0.607	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		24	105	0	0	0	1	0	24	105				
PRR15L	79170	broad.mit.edu	37	17	46030325	46030325	+	Silent	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:46030325G>C	ENST00000300557.2	-	2	526	c.276C>G	c.(274-276)ctC>ctG	p.L92L	RP11-6N17.9_ENST00000582262.1_RNA	NM_024320.3	NP_077296.1	Q9BU68	PR15L_HUMAN	proline rich 15-like	92										NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						GATCATCAAAGAGGTTAGGGT	0.542																																						ENST00000300557.2																			0				NS(1)|cervix(1)|ovary(1)|pancreas(1)	4						c.(274-276)ctC>ctG		proline rich 15-like							171.0	136.0	148.0					17																	46030325		2203	4300	6503	SO:0001819	synonymous_variant	79170							g.chr17:46030325G>C	BC002865	CCDS11523.1	17q21.32	2009-11-11	2009-11-11	2009-11-11		ENSG00000167183			28149	protein-coding gene	gene with protein product			"""ATPase family, AAA domain containing 4"""	ATAD4			Standard	NM_024320		Approved	MGC11242	uc002imp.4	Q9BU68		ENST00000300557.2:c.276C>G	17.37:g.46030325G>C						RP11-6N17.9_ENST00000582262.1_RNA	p.L92L	NM_024320.3	NP_077296.1	Q9BU68	PR15L_HUMAN			2	526	-			92					D3DTU0	Silent	SNP	ENST00000300557.2	37	c.276C>G	CCDS11523.1																																																																																				0.542	PRR15L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441413.1	NM_024320		10	95	0	0	0	1	0	10	95				
KIF7	374654	broad.mit.edu	37	15	90172250	90172250	+	Silent	SNP	C	C	G	rs138986036	byFrequency	TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:90172250C>G	ENST00000394412.3	-	18	3697	c.3621G>C	c.(3619-3621)ctG>ctC	p.L1207L	KIF7_ENST00000558928.1_5'Flank	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1207					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCTTCTGTTTCAGTTCCTGGT	0.547																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(3619-3621)ctG>ctC		kinesin family member 7							123.0	121.0	122.0					15																	90172250		2200	4299	6499	SO:0001819	synonymous_variant	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90172250C>G	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3621G>C	15.37:g.90172250C>G							p.L1207L	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		18	3697	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1207					Q3SXY0|Q6UXE9|Q8IW72	Silent	SNP	ENST00000394412.3	37	c.3621G>C	CCDS32325.2																																																																																				0.547	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		21	120	0	0	0	1	0	21	120				
MAST1	22983	broad.mit.edu	37	19	12978692	12978692	+	Missense_Mutation	SNP	C	C	T	rs373621251		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:12978692C>T	ENST00000251472.4	+	20	2506	c.2467C>T	c.(2467-2469)Ccc>Tcc	p.P823S		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCGCAGGCCTCCCCGGCCCAG	0.736																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2467-2469)Ccc>Tcc		microtubule associated serine/threonine kinase 1		C	SER/PRO	0,4336		0,0,2168	11.0	15.0	13.0		2467	1.7	1.0	19		13	1,8523		0,1,4261	no	missense	MAST1	NM_014975.2	74	0,1,6429	TT,TC,CC		0.0117,0.0,0.0078	benign	823/1571	12978692	1,12859	2168	4262	6430	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12978692C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2467C>T	19.37:g.12978692C>T	ENSP00000251472:p.Pro823Ser						p.P823S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			20	2506	+			823						Missense_Mutation	SNP	ENST00000251472.4	37	c.2467C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303009	0.40795	0.0	1.17E-4	ENSG00000105613	ENST00000251472	T	0.63580	-0.05	3.98	1.69	0.24217	.	0.422457	0.20444	N	0.092230	T	0.40570	0.1122	N	0.19112	0.55	0.24123	N	0.995791	B	0.06786	0.001	B	0.06405	0.002	T	0.18713	-1.0328	10	0.10111	T	0.7	-13.0907	10.4084	0.44278	0.0:0.6156:0.3844:0.0	.	823	Q9Y2H9	MAST1_HUMAN	S	823	ENSP00000251472:P823S	ENSP00000251472:P823S	P	+	1	0	MAST1	12839692	0.950000	0.32346	0.986000	0.45419	0.950000	0.60333	0.528000	0.23002	0.245000	0.21373	0.549000	0.68633	CCC		0.736	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		6	20	0	0	0	1	0	6	20				
NAV3	89795	broad.mit.edu	37	12	78593297	78593297	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:78593297C>G	ENST00000397909.2	+	37	6874	c.6701C>G	c.(6700-6702)tCt>tGt	p.S2234C	NAV3_ENST00000228327.6_Missense_Mutation_p.S2212C|NAV3_ENST00000541270.1_Missense_Mutation_p.S64C|NAV3_ENST00000266692.7_Missense_Mutation_p.S2035C|NAV3_ENST00000536525.2_Missense_Mutation_p.S2212C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2234						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACAGTTCTTCTGACGTTACC	0.373										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(6700-6702)tCt>tGt		neuron navigator 3							83.0	81.0	81.0					12																	78593297		1865	4092	5957	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78593297C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6701C>G	12.37:g.78593297C>G	ENSP00000381007:p.Ser2234Cys	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.S2212C|NAV3_ENST00000266692.7_Missense_Mutation_p.S2035C|NAV3_ENST00000541270.1_Missense_Mutation_p.S64C|NAV3_ENST00000536525.2_Missense_Mutation_p.S2212C	p.S2234C			Q8IVL0	NAV3_HUMAN			37	6874	+			2234					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.6701C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765665|4.765665	0.90020|0.90020	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895;ENST00000551162|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000541270	.|T;T;T;T;T	.|0.51817	.|1.4;1.4;1.39;1.35;0.69	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.39146	.|U	.|0.001452	T|T	0.74344|0.74344	0.3704|0.3704	M|M	0.86028|0.86028	2.79|2.79	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0	.|D;D;D;D	.|0.87578	.|0.993;0.995;0.997;0.998	T|T	0.76809|0.76809	-0.2822|-0.2822	5|10	.|0.72032	.|D	.|0.01	-12.8139|-12.8139	20.2245|20.2245	0.98337|0.98337	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2212;2035;2234;2212	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	L|C	1106;101|2212;2234;2212;2035;64	.|ENSP00000446132:S2212C;ENSP00000381007:S2234C;ENSP00000228327:S2212C;ENSP00000266692:S2035C;ENSP00000444918:S64C	.|ENSP00000228327:S2212C	F|S	+|+	3|2	2|0	NAV3|NAV3	77117428|77117428	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.776000|7.776000	0.85560|0.85560	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	TTC|TCT		0.373	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		8	57	0	0	0	1	0	8	57				
ACSS3	79611	broad.mit.edu	37	12	81613830	81613830	+	Missense_Mutation	SNP	C	C	T	rs142377880		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:81613830C>T	ENST00000548058.1	+	11	2399	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	ACSS3_ENST00000548324.1_Missense_Mutation_p.R179W|ACSS3_ENST00000261206.3_Missense_Mutation_p.R496W			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	497						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						ACTGAAGGCTCGGTGTTTAGG	0.269													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14479	0.0		0.0	False		,,,				2504	0.0					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.(1489-1491)Cgg>Tgg		acyl-CoA synthetase short-chain family member 3		C	TRP/ARG	0,4406		0,0,2203	51.0	55.0	54.0		1489	2.4	1.0	12	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	no	missense	ACSS3	NM_024560.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	497/687	81613830	2,13004	2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81613830C>T		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.1489C>T	12.37:g.81613830C>T	ENSP00000449535:p.Arg497Trp					ACSS3_ENST00000548324.1_Missense_Mutation_p.R179W|ACSS3_ENST00000261206.3_Missense_Mutation_p.R496W	p.R497W			Q9H6R3	ACSS3_HUMAN			11	2399	+			497					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1489C>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953728	0.73902	0.0	2.33E-4	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.49720	2.84;2.84;0.77	5.49	2.38	0.29361	AMP-dependent synthetase/ligase (1);	0.860200	0.10450	N	0.673141	T	0.56819	0.2011	L	0.60455	1.87	0.37433	D	0.914098	D;D	0.76494	0.995;0.999	P;D	0.63192	0.766;0.912	T	0.59674	-0.7410	10	0.87932	D	0	-7.8353	3.6297	0.08127	0.4024:0.3873:0.1282:0.0822	.	179;497	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	W	497;496;179	ENSP00000449535:R497W;ENSP00000261206:R496W;ENSP00000448965:R179W	ENSP00000261206:R496W	R	+	1	2	ACSS3	80137961	0.965000	0.33210	0.994000	0.49952	0.988000	0.76386	2.017000	0.40981	0.731000	0.32448	0.655000	0.94253	CGG		0.269	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		8	63	0	0	0	1	0	8	63				
LGI4	163175	broad.mit.edu	37	19	35616130	35616130	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:35616130G>C	ENST00000310123.3	-	9	2100	c.1581C>G	c.(1579-1581)atC>atG	p.I527M	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	527					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GATGCTGGTAGATCTGTGTGG	0.652																																						ENST00000310123.3																			0				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1579-1581)atC>atG		leucine-rich repeat LGI family, member 4							60.0	59.0	60.0					19																	35616130		2203	4300	6503	SO:0001583	missense	163175					extracellular region		g.chr19:35616130G>C	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1581C>G	19.37:g.35616130G>C	ENSP00000312273:p.Ile527Met					LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR	p.I527M	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		9	2100	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		527					B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.1581C>G	CCDS12444.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591034	0.46214	.	.	ENSG00000153902	ENST00000310123;ENST00000437421	T	0.70749	-0.51	5.15	4.05	0.47172	.	0.333257	0.25267	N	0.031914	T	0.65995	0.2745	L	0.54323	1.7	0.80722	D	1	P	0.40476	0.718	B	0.42422	0.387	T	0.69862	-0.5030	10	0.87932	D	0	.	7.9761	0.30155	0.0:0.1736:0.647:0.1794	.	527	Q8N135	LGI4_HUMAN	M	527;528	ENSP00000312273:I527M	ENSP00000312273:I527M	I	-	3	3	LGI4	40307970	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	0.478000	0.22212	2.404000	0.81709	0.484000	0.47621	ATC		0.652	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			15	89	0	0	0	1	0	15	89				
CSMD3	114788	broad.mit.edu	37	8	113694784	113694784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr8:113694784G>T	ENST00000297405.5	-	16	2808	c.2564C>A	c.(2563-2565)tCa>tAa	p.S855*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S855*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S815*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S751*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	855	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTGAAATTGAACTTCCTAA	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2563-2565)tCa>tAa		CUB and Sushi multiple domains 3							114.0	112.0	113.0					8																	113694784		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113694784G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2564C>A	8.37:g.113694784G>T	ENSP00000297405:p.Ser855*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S751*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S855*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S815*	p.S855*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			16	2808	-			855			Sushi 4.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.2564C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	44	10.873568	0.99481	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.557	0.95354	0.0:0.0:1.0:0.0	.	.	.	.	X	815;855;195;751;855	.	ENSP00000297405:S855X	S	-	2	0	CSMD3	113763960	1.000000	0.71417	0.964000	0.40570	0.982000	0.71751	9.869000	0.99810	2.623000	0.88846	0.650000	0.86243	TCA		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		17	106	1	0	3.41278e-10	1	3.61755e-10	17	106				
PCDHGB2	56103	broad.mit.edu	37	5	140740503	140740503	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:140740503C>T	ENST00000522605.1	+	1	801	c.801C>T	c.(799-801)acC>acT	p.T267T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	267	Cadherin 3. {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)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAGCCACCGACCGGGATG	0.493																																						ENST00000522605.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(799-801)acC>acT									54.0	55.0	55.0					5																	140740503		1998	4166	6164	SO:0001819	synonymous_variant	56103							g.chr5:140740503C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.801C>T	5.37:g.140740503C>T						PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T267T	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	801	+								Q3MIJ3|Q9UN65	Silent	SNP	ENST00000522605.1	37	c.801C>T	CCDS54924.1																																																																																				0.493	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		13	34	0	0	0	1	0	13	34				
SHANK2	22941	broad.mit.edu	37	11	70331690	70331690	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:70331690C>T	ENST00000423696.2	-	15	3607	c.3571G>A	c.(3571-3573)Gaa>Aaa	p.E1191K	SHANK2_ENST00000449833.2_Missense_Mutation_p.E975K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E974K|SHANK2_ENST00000338508.4_Missense_Mutation_p.E1571K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1191					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCTACATCTTCTTCCACGAGC	0.552																																						ENST00000338508.4																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4711-4713)Gaa>Aaa		SH3 and multiple ankyrin repeat domains 2							116.0	115.0	115.0					11																	70331690		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331690C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3571G>A	11.37:g.70331690C>T	ENSP00000394536:p.Glu1191Lys					SHANK2_ENST00000409161.1_Missense_Mutation_p.E974K|SHANK2_ENST00000423696.2_Missense_Mutation_p.E1191K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E975K	p.E1571K			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4710	-			1191					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4711G>A		.	.	.	.	.	.	.	.	.	.	C	21.2	4.119410	0.77323	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16;2.16	5.42	5.42	0.78866	.	0.096483	0.64402	D	0.000001	T	0.49762	0.1576	M	0.73598	2.24	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.958;0.996;0.997	T	0.50303	-0.8844	10	0.62326	D	0.03	.	19.2305	0.93836	0.0:1.0:0.0:0.0	.	1191;1570;975	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	K	975;974;849;1571;1191;1209;1194	ENSP00000399423:E975K;ENSP00000386491:E974K;ENSP00000402944:E849K;ENSP00000345193:E1571K;ENSP00000394536:E1191K;ENSP00000294018:E1194K	ENSP00000294018:E1194K	E	-	1	0	SHANK2	70009338	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	7.205000	0.77881	2.549000	0.85964	0.655000	0.94253	GAA		0.552	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		135	1146	0	0	0	1	0	135	1146				
SERPINA10	51156	broad.mit.edu	37	14	94756848	94756848	+	Missense_Mutation	SNP	G	G	C	rs2232697		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:94756848G>C	ENST00000393096.1	-	2	548	c.83C>G	c.(82-84)tCg>tGg	p.S28W	SERPINA10_ENST00000554173.1_Missense_Mutation_p.S28W|SERPINA10_ENST00000261994.4_Missense_Mutation_p.S28W|SERPINA10_ENST00000554723.1_Missense_Mutation_p.S68W	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	28					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S28L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTCTCTGGCGACTGAGGACT	0.642																																						ENST00000554723.1																			1	Substitution - Missense(1)	p.S28L(1)	skin(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(202-204)tCg>tGg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							25.0	27.0	26.0					14																	94756848		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756848G>C	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.83C>G	14.37:g.94756848G>C	ENSP00000376809:p.Ser28Trp					SERPINA10_ENST00000393096.1_Missense_Mutation_p.S28W|SERPINA10_ENST00000554173.1_Missense_Mutation_p.S28W|SERPINA10_ENST00000261994.4_Missense_Mutation_p.S28W	p.S68W			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	621	-		all_cancers(154;0.105)	28					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.203C>G	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423414	0.25639	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41	3.62	0.589	0.17452	Serpin domain (1);	1.710340	0.03826	N	0.268263	T	0.79341	0.4429	N	0.08118	0	0.09310	N	1	D	0.59357	0.985	P	0.45474	0.482	T	0.71424	-0.4597	10	0.87932	D	0	.	2.9859	0.05968	0.2437:0.0:0.5419:0.2144	.	28	Q9UK55	ZPI_HUMAN	W	68;28;28;28	ENSP00000450896:S68W;ENSP00000376809:S28W;ENSP00000261994:S28W;ENSP00000450971:S28W	ENSP00000261994:S28W	S	-	2	0	SERPINA10	93826601	0.000000	0.05858	0.000000	0.03702	0.105000	0.19272	-0.924000	0.03996	0.008000	0.14787	0.313000	0.20887	TCG		0.642	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		17	23	0	0	0	1	0	17	23				
CYP4A22	284541	broad.mit.edu	37	1	47607908	47607908	+	Splice_Site	SNP	G	G	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:47607908G>T	ENST00000371891.3	+	4	541		c.e4+1		CYP4A22_ENST00000485117.1_Splice_Site|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Splice_Site|CYP4A22_ENST00000294337.3_Splice_Site	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22							endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGATGCTGGTGAGTCCATG	0.557																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e4+1		cytochrome P450, family 4, subfamily A, polypeptide 22							87.0	72.0	77.0					1																	47607908		2203	4299	6502	SO:0001630	splice_region_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47607908G>T		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.510+1G>T	1.37:g.47607908G>T						CYP4A22_ENST00000294337.3_Splice_Site|CYP4A22_ENST00000371890.3_Splice_Site|CYP4A22_ENST00000485117.1_Splice_Site|CYP4A22-AS1_ENST00000444042.2_lincRNA		NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			4	541	+								Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Splice_Site	SNP	ENST00000371891.3	37		CCDS30707.1	.	.	.	.	.	.	.	.	.	.	G	9.695	1.153030	0.21371	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	.	.	.	1.7	1.7	0.24286	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6371	0.51211	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP4A22	47380495	1.000000	0.71417	0.812000	0.32479	0.274000	0.26718	5.069000	0.64370	0.933000	0.37291	0.195000	0.17529	.		0.557	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213	Intron	8	66	1	0	0.000157383	1	0.000162916	8	66				
RIMBP2	23504	broad.mit.edu	37	12	130912804	130912804	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:130912804C>T	ENST00000261655.4	-	12	2444	c.2281G>A	c.(2281-2283)Gag>Aag	p.E761K		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	761					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCTCCTCCTCGTCCTCCTCC	0.617																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2281-2283)Gag>Aag		RIMS binding protein 2							93.0	74.0	80.0					12																	130912804		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130912804C>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2281G>A	12.37:g.130912804C>T	ENSP00000261655:p.Glu761Lys						p.E761K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	12	2444	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	761					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2281G>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	34	5.336402	0.95758	.	.	ENSG00000060709	ENST00000261655	T	0.23552	1.9	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.37934	-0.9684	10	0.26408	T	0.33	-35.7598	18.2467	0.89988	0.0:1.0:0.0:0.0	.	761	O15034	RIMB2_HUMAN	K	761	ENSP00000261655:E761K	ENSP00000261655:E761K	E	-	1	0	RIMBP2	129478757	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.791000	0.85805	2.306000	0.77630	0.561000	0.74099	GAG		0.617	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		26	60	0	0	0	1	0	26	60				
MYT1L	23040	broad.mit.edu	37	2	1855422	1855422	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:1855422G>C	ENST00000399161.2	-	19	3512	c.2765C>G	c.(2764-2766)tCt>tGt	p.S922C	MYT1L_ENST00000428368.2_Missense_Mutation_p.S920C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	922					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCTCCGATGAGAAGCATAATT	0.433																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2764-2766)tCt>tGt		myelin transcription factor 1-like							111.0	110.0	110.0					2																	1855422		1939	4166	6105	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1855422G>C	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2765C>G	2.37:g.1855422G>C	ENSP00000382114:p.Ser922Cys					MYT1L_ENST00000428368.2_Missense_Mutation_p.S920C	p.S922C	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	19	3512	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	922					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2765C>G		.	.	.	.	.	.	.	.	.	.	G	17.99	3.522598	0.64747	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.57273	0.41;0.41	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.76473	-0.2946	10	0.87932	D	0	-6.8332	16.934	0.86198	0.0:0.0:1.0:0.0	.	922;920	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	C	922;868;920	ENSP00000382114:S922C;ENSP00000396103:S920C	ENSP00000295067:S868C	S	-	2	0	MYT1L	1834429	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	6.937000	0.75898	2.731000	0.93534	0.557000	0.71058	TCT		0.433	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		13	112	0	0	0	1	0	13	112				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																729171							g.chr2:95522772T>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.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	104	0	0	0	1	0	6	104				
BBS10	79738	broad.mit.edu	37	12	76740853	76740853	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:76740853C>T	ENST00000393262.3	-	2	995	c.912G>A	c.(910-912)caG>caA	p.Q304Q		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	304					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATTTTACATTCTGACTATGTA	0.338									Bardet-Biedl syndrome																													ENST00000393262.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19	GRCh37	CD064496	BBS10	D		c.(910-912)caG>caA		Bardet-Biedl syndrome 10							121.0	108.0	112.0					12																	76740853		2203	4300	6503	SO:0001819	synonymous_variant	79738	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740853C>T	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.912G>A	12.37:g.76740853C>T							p.Q304Q	NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN			2	995	-			304					Q96CW2|Q9H5D2	Silent	SNP	ENST00000393262.3	37	c.912G>A	CCDS9014.2																																																																																				0.338	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		6	24	0	0	0	1	0	6	24				
CAPN2	824	broad.mit.edu	37	1	223943283	223943283	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:223943283C>G	ENST00000295006.5	+	10	1546	c.1237C>G	c.(1237-1239)Cag>Gag	p.Q413E	CAPN2_ENST00000433674.2_Missense_Mutation_p.Q335E	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	413	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GGGGCTCATTCAGAAGCACCG	0.607																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(1237-1239)Cag>Gag		calpain 2, (m/II) large subunit							141.0	109.0	120.0					1																	223943283		2203	4300	6503	SO:0001583	missense	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223943283C>G	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1237C>G	1.37:g.223943283C>G	ENSP00000295006:p.Gln413Glu					CAPN2_ENST00000433674.2_Missense_Mutation_p.Q335E	p.Q413E	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	10	1546	+			413			Domain III.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	c.1237C>G	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034227	0.93575	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.89810	-2.57;-2.57	5.35	5.35	0.76521	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.85682	D	0.000000	D	0.95149	0.8428	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.975;0.988	D	0.95536	0.8608	10	0.72032	D	0.01	.	19.0863	0.93204	0.0:1.0:0.0:0.0	.	335;413	B7ZA96;P17655	.;CAN2_HUMAN	E	335;413;442	ENSP00000413158:Q335E;ENSP00000295006:Q413E	ENSP00000295006:Q413E	Q	+	1	0	CAPN2	222009906	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.813000	0.86123	2.507000	0.84556	0.563000	0.77884	CAG		0.607	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		27	52	0	0	0	1	0	27	52				
ITSN2	50618	broad.mit.edu	37	2	24480820	24480820	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:24480820C>T	ENST00000355123.4	-	23	3268	c.2825G>A	c.(2824-2826)gGa>gAa	p.G942E	ITSN2_ENST00000361999.3_Missense_Mutation_p.G915E|ITSN2_ENST00000406921.3_Missense_Mutation_p.G942E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	942	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCCTCTTCCTCCATGCAC	0.408																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(2824-2826)gGa>gAa		intersectin 2							153.0	147.0	149.0					2																	24480820		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24480820C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2825G>A	2.37:g.24480820C>T	ENSP00000347244:p.Gly942Glu					ITSN2_ENST00000406921.3_Missense_Mutation_p.G942E|ITSN2_ENST00000361999.3_Missense_Mutation_p.G915E	p.G942E	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			23	3268	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		942			SH3 2.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.2825G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336373	0.41398	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	5.27	5.27	0.74061	Src homology-3 domain (3);Variant SH3 (1);	0.441241	0.16015	U	0.233580	T	0.03871	0.0109	N	0.03983	-0.305	0.43360	D	0.995437	B;B;B	0.29988	0.264;0.041;0.051	B;B;B	0.24006	0.05;0.011;0.033	T	0.54289	-0.8316	10	0.18710	T	0.47	.	12.6706	0.56864	0.0:0.9241:0.0:0.0759	.	942;915;942	Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;ITSN2_HUMAN	E	915;942;915;942	ENSP00000354561:G915E;ENSP00000347244:G942E;ENSP00000370250:G915E;ENSP00000384499:G942E	ENSP00000347244:G942E	G	-	2	0	ITSN2	24334324	0.173000	0.23056	1.000000	0.80357	0.985000	0.73830	0.619000	0.24388	2.646000	0.89796	0.579000	0.79373	GGA		0.408	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		13	90	0	0	0	1	0	13	90				
DHX37	57647	broad.mit.edu	37	12	125432580	125432580	+	Intron	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:125432580C>T	ENST00000308736.2	-	26	3487				DHX37_ENST00000544745.1_Silent_p.L933L	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37								ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GCCCCTGCCTCAGTGACCCCA	0.597																																						ENST00000544745.1																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(2797-2799)ctG>ctA		DEAH (Asp-Glu-Ala-His) box polypeptide 37							56.0	51.0	53.0					12																	125432580		2203	4300	6503	SO:0001627	intron_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125432580C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3388+49G>A	12.37:g.125432580C>T						DHX37_ENST00000308736.2_Intron	p.L933L			Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	23	2908	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.2799G>A	CCDS9261.1																																																																																				0.597	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		16	27	0	0	0	1	0	16	27				
RBM12	10137	broad.mit.edu	37	20	34242341	34242341	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr20:34242341C>G	ENST00000374114.3	-	3	1167	c.904G>C	c.(904-906)Gat>Cat	p.D302H	RBM12_ENST00000374104.3_Missense_Mutation_p.D302H|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.D302H|CPNE1_ENST00000397442.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317677.5_5'Flank	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	302						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TACAGATCATCAGGGTTGATG	0.433																																						ENST00000374114.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(904-906)Gat>Cat		RNA binding motif protein 12							79.0	78.0	78.0					20																	34242341		2203	4300	6503	SO:0001583	missense	10137					nucleus	nucleotide binding|protein binding|RNA binding	g.chr20:34242341C>G	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.904G>C	20.37:g.34242341C>G	ENSP00000363228:p.Asp302His					CPNE1_ENST00000397442.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.D302H|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.D302H|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron	p.D302H	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		3	1167	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		302					B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	c.904G>C	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227684	0.58668	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.32272	1.46;1.46;1.46	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.48811	-0.9002	10	0.87932	D	0	-13.242	18.2045	0.89850	0.0:1.0:0.0:0.0	.	302	Q9NTZ6	RBM12_HUMAN	H	302;302;302;101	ENSP00000363228:D302H;ENSP00000352668:D302H;ENSP00000363217:D302H	ENSP00000339879:D101H	D	-	1	0	RBM12	33705755	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.628000	0.67791	2.522000	0.85027	0.555000	0.69702	GAT		0.433	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		33	74	0	0	0	1	0	33	74				
NAV3	89795	broad.mit.edu	37	12	78531100	78531100	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:78531100C>G	ENST00000397909.2	+	19	4758	c.4585C>G	c.(4585-4587)Cgt>Ggt	p.R1529G	NAV3_ENST00000228327.6_Missense_Mutation_p.R1529G|NAV3_ENST00000266692.7_Missense_Mutation_p.R1352G|NAV3_ENST00000536525.2_Missense_Mutation_p.R1529G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1529	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.R1529S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGAAAGACCTCGTGCCATCAG	0.493										HNSCC(70;0.22)																												ENST00000397909.2																			1	Substitution - Missense(1)	p.R1529S(1)	lung(1)	NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(4585-4587)Cgt>Ggt		neuron navigator 3							90.0	89.0	89.0					12																	78531100		1934	4148	6082	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78531100C>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4585C>G	12.37:g.78531100C>G	ENSP00000381007:p.Arg1529Gly	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.R1529G|NAV3_ENST00000266692.7_Missense_Mutation_p.R1352G|NAV3_ENST00000536525.2_Missense_Mutation_p.R1529G	p.R1529G			Q8IVL0	NAV3_HUMAN			19	4758	+			1529			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4585C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.128244|4.128244	0.77549|0.77549	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.36340|.	1.27;1.26;1.34;1.39;2.34|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.39759|.	U|.	0.001276|.	T|T	0.71584|0.71584	0.3357|0.3357	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.89917|.	0.861;0.996;1.0;1.0|.	B;D;D;D|.	0.87578|.	0.242;0.992;0.998;0.998|.	T|T	0.69117|0.69117	-0.5230|-0.5230	10|5	0.54805|.	T|.	0.06|.	-14.5373|-14.5373	14.9861|14.9861	0.71348|0.71348	0.1425:0.8574:0.0:0.0|0.1425:0.8574:0.0:0.0	.|.	1529;1352;1529;1529|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	G|W	1529;1529;1529;1352;150;158|423	ENSP00000446132:R1529G;ENSP00000381007:R1529G;ENSP00000228327:R1529G;ENSP00000266692:R1352G;ENSP00000448303:R158G|.	ENSP00000228327:R1529G|.	R|S	+|+	1|2	0|0	NAV3|NAV3	77055231|77055231	1.000000|1.000000	0.71417|0.71417	0.801000|0.801000	0.32222|0.32222	0.843000|0.843000	0.47879|0.47879	4.532000|4.532000	0.60608|0.60608	2.784000|2.784000	0.95788|0.95788	0.585000|0.585000	0.79938|0.79938	CGT|TCG		0.493	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		13	82	0	0	0	1	0	13	82				
TPR	7175	broad.mit.edu	37	1	186315292	186315292	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:186315292C>T	ENST00000367478.4	-	23	3367	c.3071G>A	c.(3070-3072)aGa>aAa	p.R1024K		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1024					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCTATGGCTCTTCTTTTATC	0.333			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(3070-3072)aGa>aAa		translocated promoter region, nuclear basket protein							245.0	209.0	221.0					1																	186315292		1844	4097	5941	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186315292C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.3071G>A	1.37:g.186315292C>T	ENSP00000356448:p.Arg1024Lys						p.R1024K	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	23	3367	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1024					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.3071G>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	4.704	0.130965	0.08981	.	.	ENSG00000047410	ENST00000367478	T	0.21031	2.03	5.66	0.252	0.15545	Prefoldin (1);	0.180954	0.64402	N	0.000014	T	0.07007	0.0178	N	0.04203	-0.255	0.25264	N	0.989572	B	0.02656	0.0	B	0.01281	0.0	T	0.41395	-0.9511	10	0.02654	T	1	.	10.2268	0.43231	0.0:0.313:0.0:0.687	.	1024	P12270	TPR_HUMAN	K	1024	ENSP00000356448:R1024K	ENSP00000356448:R1024K	R	-	2	0	TPR	184581915	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	1.861000	0.39438	0.093000	0.17368	-0.312000	0.09012	AGA		0.333	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		10	39	0	0	0	1	0	10	39				
ATRNL1	26033	broad.mit.edu	37	10	116919891	116919891	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:116919891C>T	ENST00000355044.3	+	6	1046	c.920C>T	c.(919-921)tCa>tTa	p.S307L	ATRNL1_ENST00000527407.1_Missense_Mutation_p.S307L|ATRNL1_ENST00000529665.1_3'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	307					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGTCGGGCTTCACATAAAGCA	0.368																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(919-921)tCa>tTa		attractin-like 1							210.0	217.0	215.0					10																	116919891		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:116919891C>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.920C>T	10.37:g.116919891C>T	ENSP00000347152:p.Ser307Leu					ATRNL1_ENST00000529665.1_3'UTR|ATRNL1_ENST00000527407.1_Missense_Mutation_p.S307L	p.S307L	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	6	1046	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	307					O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.920C>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364612	0.95877	.	.	ENSG00000107518	ENST00000526946;ENST00000355044	T;T	0.66995	1.27;-0.24	5.83	5.83	0.93111	.	0.052088	0.85682	D	0.000000	T	0.82107	0.4965	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	0.999;0.981;1.0	D;D;D	0.83275	0.991;0.966;0.996	T	0.81455	-0.0925	10	0.48119	T	0.1	-14.697	18.2995	0.90158	0.0:1.0:0.0:0.0	.	240;307;307	E9PL90;Q5VV63;Q5VV63-2	.;ATRN1_HUMAN;.	L	240;307	ENSP00000431423:S240L;ENSP00000347152:S307L	ENSP00000347152:S307L	S	+	2	0	ATRNL1	116909881	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.792000	0.85828	2.763000	0.94921	0.555000	0.69702	TCA		0.368	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		13	106	0	0	0	1	0	13	106				
RAVER1	125950	broad.mit.edu	37	19	10439531	10439531	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:10439531C>T	ENST00000293677.6	-	3	675	c.594G>A	c.(592-594)atG>atA	p.M198I		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	181	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			AGTCCTTCTTCATGTACTCAG	0.642																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(592-594)atG>atA		ribonucleoprotein, PTB-binding 1							34.0	40.0	38.0					19																	10439531		2125	4239	6364	SO:0001583	missense	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10439531C>T		CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.594G>A	19.37:g.10439531C>T	ENSP00000293677:p.Met198Ile						p.M198I	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		3	675	-			181			RRM 2.		A6NMU4|Q8IY60|Q8TF24	Missense_Mutation	SNP	ENST00000293677.6	37	c.594G>A	CCDS45960.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538124	0.85917	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.15603	2.41	5.07	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.25791	0.0628	L	0.45581	1.43	0.45762	D	0.998658	P	0.49559	0.925	P	0.53861	0.736	T	0.00731	-1.1590	10	0.52906	T	0.07	-27.7566	11.9902	0.53171	0.1737:0.8263:0.0:0.0	.	198	E9PAU2	.	I	198;181	ENSP00000293677:M198I	ENSP00000293677:M198I	M	-	3	0	RAVER1	10300531	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.599000	0.67592	2.357000	0.79964	0.650000	0.86243	ATG		0.642	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451227.1	NM_133452		7	32	0	0	0	1	0	7	32				
PCDHB6	56130	broad.mit.edu	37	5	140532031	140532031	+	Silent	SNP	A	A	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:140532031A>G	ENST00000231136.1	+	1	2193	c.2193A>G	c.(2191-2193)ccA>ccG	p.P731P	PCDHB6_ENST00000543635.1_Silent_p.P595P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	731					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCCTTTCCAGGGCATCTGG	0.612																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(2191-2193)ccA>ccG									107.0	119.0	115.0					5																	140532031		2202	4300	6502	SO:0001819	synonymous_variant	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140532031A>G	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2193A>G	5.37:g.140532031A>G						PCDHB6_ENST00000543635.1_Silent_p.P595P	p.P731P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2193	+			731					B2R8R9	Silent	SNP	ENST00000231136.1	37	c.2193A>G	CCDS4248.1																																																																																				0.612	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		18	211	0	0	0	1	0	18	211				
ZDBF2	57683	broad.mit.edu	37	2	207173957	207173957	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:207173957G>C	ENST00000374423.3	+	5	5091	c.4705G>C	c.(4705-4707)Gat>Cat	p.D1569H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1569							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGAATGTATTGATATAGAAGA	0.358																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(4705-4707)Gat>Cat		zinc finger, DBF-type containing 2							24.0	25.0	25.0					2																	207173957		1840	4084	5924	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207173957G>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4705G>C	2.37:g.207173957G>C	ENSP00000363545:p.Asp1569His						p.D1569H	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	5091	+			1569					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.4705G>C	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	8.058	0.767479	0.15983	.	.	ENSG00000204186	ENST00000374423	T	0.50548	0.74	3.79	1.97	0.26223	.	.	.	.	.	T	0.53965	0.1829	L	0.61218	1.895	0.09310	N	1	D	0.69078	0.997	P	0.58577	0.841	T	0.37430	-0.9706	9	0.34782	T	0.22	.	5.2288	0.15410	0.1149:0.2106:0.6745:0.0	.	1569	Q9HCK1	ZDBF2_HUMAN	H	1569	ENSP00000363545:D1569H	ENSP00000363545:D1569H	D	+	1	0	ZDBF2	206882202	0.001000	0.12720	0.001000	0.08648	0.006000	0.05464	0.529000	0.23019	0.574000	0.29417	-0.304000	0.09214	GAT		0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	17	0	0	0	1	0	6	17				
UBR4	23352	broad.mit.edu	37	1	19525298	19525298	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:19525298G>C	ENST00000375254.3	-	4	530	c.503C>G	c.(502-504)tCa>tGa	p.S168*	UBR4_ENST00000375217.2_Nonsense_Mutation_p.S168*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.S168*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.S168*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	168					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCCACCGTCTGAAAGTGTCTT	0.498																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(502-504)tCa>tGa		ubiquitin protein ligase E3 component n-recognin 4							133.0	132.0	132.0					1																	19525298		2203	4300	6503	SO:0001587	stop_gained	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19525298G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.503C>G	1.37:g.19525298G>C	ENSP00000364403:p.Ser168*					UBR4_ENST00000375226.2_Nonsense_Mutation_p.S168*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.S168*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.S168*	p.S168*			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	4	506	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	168					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	c.503C>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	36	5.753332	0.96890	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	17.7729	0.88499	0.0:0.0:1.0:0.0	.	.	.	.	X	168	.	ENSP00000364365:S168X	S	-	2	0	UBR4	19397885	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.807000	0.99171	2.536000	0.85505	0.563000	0.77884	TCA		0.498	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		33	89	0	0	0	1	0	33	89				
UBR3	130507	broad.mit.edu	37	2	170938300	170938300	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:170938300C>G	ENST00000272793.5	+	39	5664	c.5614C>G	c.(5614-5616)Cat>Gat	p.H1872D	UBR3_ENST00000418381.1_Missense_Mutation_p.H1872D|UBR3_ENST00000392631.1_Missense_Mutation_p.H693D			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1872					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GTGGATTTCTCATACTTTTGA	0.363																																						ENST00000272793.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5614-5616)Cat>Gat		ubiquitin protein ligase E3 component n-recognin 3 (putative)							116.0	118.0	118.0					2																	170938300		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170938300C>G	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5614C>G	2.37:g.170938300C>G	ENSP00000272793:p.His1872Asp					UBR3_ENST00000418381.1_Missense_Mutation_p.H1872D|UBR3_ENST00000392631.1_Missense_Mutation_p.H693D	p.H1872D			Q6ZT12	UBR3_HUMAN			39	5664	+			1872					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.5614C>G		.	.	.	.	.	.	.	.	.	.	C	26.5	4.748379	0.89663	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.82259	0.4998	M	0.91818	3.245	0.58432	D	0.999997	D;D;P	0.67145	0.981;0.996;0.932	D;D;P	0.77557	0.966;0.99;0.888	D	0.85362	0.1108	10	0.72032	D	0.01	.	19.9658	0.97266	0.0:1.0:0.0:0.0	.	1872;693;1901	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	D	1872;1901;1872;693;572	ENSP00000272793:H1872D;ENSP00000396068:H1872D;ENSP00000376408:H693D;ENSP00000389097:H572D	ENSP00000272793:H1872D	H	+	1	0	UBR3	170646546	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.712000	0.92718	0.650000	0.86243	CAT		0.363	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		7	55	0	0	0	1	0	7	55				
CASP3	836	broad.mit.edu	37	4	185550591	185550591	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:185550591C>T	ENST00000308394.4	-	8	931	c.669G>A	c.(667-669)ctG>ctA	p.L223L	CASP3_ENST00000517513.1_Silent_p.*183*|CASP3_ENST00000393585.2_Silent_p.*183*|CASP3_ENST00000393588.4_Silent_p.*183*|CASP3_ENST00000523916.1_Silent_p.L223L	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	223					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	CATACTGTTTCAGCATGGCAC	0.418																																						ENST00000308394.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12						c.(667-669)ctG>ctA		caspase 3, apoptosis-related cysteine peptidase	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)						83.0	78.0	80.0					4																	185550591		2203	4300	6503	SO:0001819	synonymous_variant	836				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185550591C>T	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.669G>A	4.37:g.185550591C>T						CASP3_ENST00000517513.1_Silent_p.*183*|CASP3_ENST00000523916.1_Silent_p.L223L|CASP3_ENST00000393585.2_Silent_p.*183*|CASP3_ENST00000393588.4_Silent_p.*183*	p.L223L	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	8	931	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	223					A8K5M2|D3DP53|Q96AN1|Q96KP2	Silent	SNP	ENST00000308394.4	37	c.669G>A	CCDS3836.1																																																																																				0.418	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	NM_004346		23	49	0	0	0	1	0	23	49				
PCDHGA2	56113	broad.mit.edu	37	5	140720688	140720688	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:140720688G>A	ENST00000394576.2	+	1	2150	c.2150G>A	c.(2149-2151)cGg>cAg	p.R717Q	PCDHGA3_ENST00000253812.6_5'Flank|PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	717					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCTGCGGCGCTGGCAC	0.647																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2149-2151)cGg>cAg									83.0	88.0	86.0					5																	140720688		2203	4300	6503	SO:0001583	missense	56113							g.chr5:140720688G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.2150G>A	5.37:g.140720688G>A	ENSP00000378077:p.Arg717Gln					PCDHGA1_ENST00000517417.1_Intron	p.R717Q	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2150	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.2150G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	10.46	1.356234	0.24598	.	.	ENSG00000081853	ENST00000394576	T	0.13901	2.55	5.05	2.22	0.28083	.	0.000000	0.38548	U	0.001643	T	0.14614	0.0353	M	0.83953	2.67	0.18873	N	0.999989	P;B	0.34997	0.479;0.338	B;B	0.34242	0.178;0.052	T	0.25328	-1.0135	10	0.44086	T	0.13	.	0.7569	0.01000	0.2955:0.1634:0.3732:0.1679	.	717;717	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Q	717	ENSP00000378077:R717Q	ENSP00000378077:R717Q	R	+	2	0	PCDHGA2	140700872	0.000000	0.05858	0.941000	0.38009	0.020000	0.10135	0.522000	0.22909	0.641000	0.30601	-0.515000	0.04445	CGG		0.647	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		39	130	0	0	0	1	0	39	130				
PNPLA1	285848	broad.mit.edu	37	6	36270066	36270066	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:36270066C>T	ENST00000394571.2	+	6	1204	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*	PNPLA1_ENST00000312917.5_Nonsense_Mutation_p.Q316*|PNPLA1_ENST00000388715.3_Nonsense_Mutation_p.Q307*	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	402	Pro-rich.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						TCTGTCACCTCAGCAGCAGGT	0.607											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394571.2																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						c.(1204-1206)Cag>Tag		patatin-like phospholipase domain containing 1							170.0	141.0	151.0					6																	36270066		2203	4300	6503	SO:0001587	stop_gained	285848				lipid catabolic process		hydrolase activity	g.chr6:36270066C>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.1204C>T	6.37:g.36270066C>T	ENSP00000378072:p.Gln402*		OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	PNPLA1_ENST00000312917.5_Nonsense_Mutation_p.Q316*|PNPLA1_ENST00000388715.3_Nonsense_Mutation_p.Q307*	p.Q402*	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN			6	1204	+			402			Pro-rich.		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Nonsense_Mutation	SNP	ENST00000394571.2	37	c.1204C>T	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	C	36	5.843177	0.97016	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	.	.	.	5.4	2.57	0.30868	.	2.018540	0.02380	N	0.078725	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-0.1336	7.1504	0.25608	0.0:0.6981:0.0:0.3019	.	.	.	.	X	307;316;403;402	.	ENSP00000321116:Q316X	Q	+	1	0	PNPLA1	36378044	0.004000	0.15560	0.045000	0.18777	0.913000	0.54294	0.269000	0.18589	0.630000	0.30394	0.650000	0.86243	CAG		0.607	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		23	125	0	0	0	1	0	23	125				
HRNR	388697	broad.mit.edu	37	1	152188128	152188128	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:152188128G>A	ENST00000368801.2	-	3	6052	c.5977C>T	c.(5977-5979)Cga>Tga	p.R1993*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1993					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGAGACTCTCGGTGACCTAAG	0.572																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(5977-5979)Cga>Tga		hornerin							15.0	23.0	21.0					1																	152188128		1541	3326	4867	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188128G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5977C>T	1.37:g.152188128G>A	ENSP00000357791:p.Arg1993*					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R1993*	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6052	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1993					Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.5977C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	43	10.089199	0.99333	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.67	-1.87	0.07737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	4.5034	0.11876	0.3913:0.0:0.4576:0.1511	.	.	.	.	X	1993	.	ENSP00000357791:R1993X	R	-	1	2	HRNR	150454752	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.133000	0.10451	-0.233000	0.09797	0.505000	0.49811	CGA		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		68	1237	0	0	0	1	0	68	1237				
NYNRIN	57523	broad.mit.edu	37	14	24878576	24878576	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:24878576C>T	ENST00000382554.3	+	4	1894	c.1576C>T	c.(1576-1578)Caa>Taa	p.Q526*		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	526					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GCCCGTGGCTCAAGGGGGGCT	0.567																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1576-1578)Caa>Taa		NYN domain and retroviral integrase containing							36.0	39.0	38.0					14																	24878576		1986	4160	6146	SO:0001587	stop_gained	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878576C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1576C>T	14.37:g.24878576C>T	ENSP00000371994:p.Gln526*						p.Q526*	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			4	1894	+			526					Q6P153|Q86TR3|Q9HAC4	Nonsense_Mutation	SNP	ENST00000382554.3	37	c.1576C>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	39	7.797002	0.98495	.	.	ENSG00000205978	ENST00000382554	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.2504	0.73539	0.0:1.0:0.0:0.0	.	.	.	.	X	526	.	ENSP00000371994:Q526X	Q	+	1	0	NYNRIN	23948416	0.036000	0.19791	0.044000	0.18714	0.308000	0.27856	2.900000	0.48687	2.733000	0.93635	0.467000	0.42956	CAA		0.567	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			9	82	0	0	0	1	0	9	82				
MAPKBP1	23005	broad.mit.edu	37	15	42116199	42116199	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:42116199G>A	ENST00000456763.2	+	30	4367	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.E1385K|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E1224K|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E1268K	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1391								p.E1385K(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCACCCCCTGAGAAGACTCC	0.637																																						ENST00000457542.2																			1	Substitution - Missense(1)	p.E1385K(1)	upper_aerodigestive_tract(1)	breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(4153-4155)Gag>Aag		mitogen-activated protein kinase binding protein 1							72.0	80.0	77.0					15																	42116199		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42116199G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.4171G>A	15.37:g.42116199G>A	ENSP00000393099:p.Glu1391Lys					MAPKBP1_ENST00000260357.7_Missense_Mutation_p.E1224K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E1268K|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.E1391K	p.E1385K	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	29	4439	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1391					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.4153G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	20.3	3.958759	0.74016	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763	T;T;T;T	0.39229	1.27;1.43;1.09;1.32	5.81	5.81	0.92471	.	0.485709	0.22542	N	0.058711	T	0.54532	0.1864	L	0.44542	1.39	0.29196	N	0.875542	D;D;D;D;D	0.89917	0.997;0.997;1.0;0.968;0.994	P;P;D;P;P	0.71184	0.84;0.879;0.972;0.661;0.854	T	0.50947	-0.8767	10	0.39692	T	0.17	-24.1114	13.298	0.60309	0.0719:0.0:0.9281:0.0	.	1224;1268;1224;1391;1385	F8WC21;O60336-3;B4DYK7;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	K	1385;1268;1224;1391	ENSP00000397570:E1385K;ENSP00000221214:E1268K;ENSP00000260357:E1224K;ENSP00000393099:E1391K	ENSP00000221214:E1268K	E	+	1	0	MAPKBP1	39903491	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.112000	0.64634	2.746000	0.94184	0.655000	0.94253	GAG		0.637	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		11	229	0	0	0	1	0	11	229				
RIMS4	140730	broad.mit.edu	37	20	43378877	43378877	+	IGR	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr20:43378877C>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.R131W	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCTGGGCGAACGGCTGAACGC	0.692																																						ENST00000372861.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(391-393)Cgg>Tgg		potassium channel, subfamily K, member 15							32.0	29.0	30.0					20																	43378877		2203	4300	6503	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43378877C>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378877C>T							p.R131W	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN			2	522	+		Myeloproliferative disorder(115;0.0122)	131					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.391C>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363426	0.61513	.	.	ENSG00000124249	ENST00000372861	T	0.30714	1.52	4.08	3.14	0.36123	Ion transport 2 (1);	0.065626	0.56097	N	0.000038	T	0.36441	0.0967	M	0.83953	2.67	0.58432	D	0.999998	P	0.39940	0.696	B	0.40940	0.344	T	0.29181	-1.0020	10	0.87932	D	0	.	6.9242	0.24405	0.1723:0.7384:0.0:0.0894	.	131	Q9H427	KCNKF_HUMAN	W	131	ENSP00000361952:R131W	ENSP00000361952:R131W	R	+	1	2	KCNK15	42812291	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	0.881000	0.28173	0.923000	0.37045	0.655000	0.94253	CGG		0.692	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		12	25	0	0	0	1	0	12	25				
DAAM1	23002	broad.mit.edu	37	14	59757989	59757989	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:59757989G>A	ENST00000395125.1	+	2	261	c.238G>A	c.(238-240)Gag>Aag	p.E80K	DAAM1_ENST00000556135.1_Missense_Mutation_p.E80K|DAAM1_ENST00000351081.1_Missense_Mutation_p.E80K|DAAM1_ENST00000360909.3_Missense_Mutation_p.E80K	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	80	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACTTCCAGCTGAGAAAAAATG	0.333																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(238-240)Gag>Aag		dishevelled associated activator of morphogenesis 1							94.0	91.0	92.0					14																	59757989		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59757989G>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.238G>A	14.37:g.59757989G>A	ENSP00000378557:p.Glu80Lys					DAAM1_ENST00000360909.3_Missense_Mutation_p.E80K|DAAM1_ENST00000556135.1_Missense_Mutation_p.E80K|DAAM1_ENST00000351081.1_Missense_Mutation_p.E80K	p.E80K	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	2	261	+			80			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.238G>A	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.024187	0.93462	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000556135;ENST00000395125	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.89	5.89	0.94794	GTPase-binding/formin homology 3 (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.94896	0.8350	M	0.80028	2.48	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.987;0.992	D	0.94108	0.7368	10	0.51188	T	0.08	.	20.2576	0.98430	0.0:0.0:1.0:0.0	.	80;80	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	K	80	ENSP00000354162:E80K;ENSP00000247170:E80K;ENSP00000450498:E80K;ENSP00000378557:E80K	ENSP00000247170:E80K	E	+	1	0	DAAM1	58827742	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.763000	0.98947	2.783000	0.95769	0.655000	0.94253	GAG		0.333	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		14	27	0	0	0	1	0	14	27				
ARMC6	93436	broad.mit.edu	37	19	19165128	19165128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:19165128C>T	ENST00000535612.1	+	6	1453	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*	ARMC6_ENST00000546344.1_Nonsense_Mutation_p.Q248*|ARMC6_ENST00000392336.3_Nonsense_Mutation_p.Q341*|ARMC6_ENST00000269932.6_Nonsense_Mutation_p.Q316*|ARMC6_ENST00000392335.2_Nonsense_Mutation_p.Q316*	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	341					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GAGCGGCGTTCAGGTATGAAG	0.617											OREG0025376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(1021-1023)Cag>Tag		armadillo repeat containing 6							68.0	57.0	61.0					19																	19165128		2203	4300	6503	SO:0001587	stop_gained	93436						protein binding	g.chr19:19165128C>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1021C>T	19.37:g.19165128C>T	ENSP00000444156:p.Gln341*		OREG0025376	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	731	ARMC6_ENST00000546344.1_Nonsense_Mutation_p.Q248*|ARMC6_ENST00000392336.3_Nonsense_Mutation_p.Q341*|ARMC6_ENST00000392335.2_Nonsense_Mutation_p.Q316*|ARMC6_ENST00000269932.6_Nonsense_Mutation_p.Q316*	p.Q341*	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		6	1453	+			341					B4DI98|O94999|Q9BTH5	Nonsense_Mutation	SNP	ENST00000535612.1	37	c.1021C>T	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.818821|4.818821	0.90873|0.90873	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336|ENST00000535478;ENST00000535795	.|.	.|.	.|.	2.71|2.71	-4.3|-4.3	0.03710|0.03710	.|.	1.553810|.	0.04203|.	U|.	0.330444|.	.|T	.|0.17280	.|0.0415	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.24476	.|-1.0159	.|3	0.14656|.	T|.	0.56|.	.|.	1.1137|1.1137	0.01710|0.01710	0.2238:0.352:0.2627:0.1615|0.2238:0.352:0.2627:0.1615	.|.	.|.	.|.	.|.	X|L	316;341;316;248;252;341|30;4	.|.	ENSP00000269932:Q316X|.	Q|S	+|+	1|2	0|0	ARMC6|ARMC6	19026128|19026128	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.682000|-1.682000	0.01935|0.01935	-0.985000|-0.985000	0.03503|0.03503	-0.373000|-0.373000	0.07131|0.07131	CAG|TCA		0.617	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		12	65	0	0	0	1	0	12	65				
SLIT3	6586	broad.mit.edu	37	5	168119691	168119691	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:168119691C>G	ENST00000519560.1	-	29	3516	c.3097G>C	c.(3097-3099)Gag>Cag	p.E1033Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.E1040Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.E1033Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1033					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAATCACCTCGTCGCATAGC	0.577																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(3097-3099)Gag>Cag		slit homolog 3 (Drosophila)							102.0	73.0	83.0					5																	168119691		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168119691C>G	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3097G>C	5.37:g.168119691C>G	ENSP00000430333:p.Glu1033Gln					SLIT3_ENST00000404867.3_Missense_Mutation_p.E1033Q|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1040Q	p.E1033Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		29	3516	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1033					A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.3097G>C	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302291	0.40694	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.91577	-2.87;-2.87;-2.87	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	N	0.13352	0.335	0.80722	D	1	B	0.20052	0.041	B	0.26770	0.073	T	0.79037	-0.1967	10	0.27785	T	0.31	.	17.5787	0.87958	0.0:1.0:0.0:0.0	.	1033	O75094	SLIT3_HUMAN	Q	1033;1040;1033	ENSP00000430333:E1033Q;ENSP00000332164:E1040Q;ENSP00000384890:E1033Q	ENSP00000332164:E1040Q	E	-	1	0	SLIT3	168052269	1.000000	0.71417	0.961000	0.40146	0.394000	0.30568	7.240000	0.78192	2.384000	0.81235	0.655000	0.94253	GAG		0.577	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		10	38	0	0	0	1	0	10	38				
ZNF213	7760	broad.mit.edu	37	16	3188497	3188497	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:3188497G>A	ENST00000396878.3	+	3	953	c.478G>A	c.(478-480)Gca>Aca	p.A160T	ZNF213_ENST00000576416.1_Missense_Mutation_p.A160T|ZNF213_ENST00000416391.2_Silent_p.G26G|ZNF213_ENST00000574902.1_Missense_Mutation_p.A160T	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	160					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACGGTGGGGGCACGGAGGCG	0.677																																						ENST00000396878.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						c.(478-480)Gca>Aca		zinc finger protein 213							31.0	38.0	36.0					16																	3188497		2197	4300	6497	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3188497G>A	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.478G>A	16.37:g.3188497G>A	ENSP00000380087:p.Ala160Thr					ZNF213_ENST00000576416.1_Missense_Mutation_p.A160T|ZNF213_ENST00000416391.2_Silent_p.G26G|ZNF213_ENST00000574902.1_Missense_Mutation_p.A160T	p.A160T	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN			3	953	+			160					A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.478G>A	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	9.911	1.209467	0.22289	.	.	ENSG00000085644	ENST00000396878	T	0.04970	3.52	5.43	-1.8	0.07907	.	1.011690	0.07951	N	0.980855	T	0.03827	0.0108	N	0.14661	0.345	0.22479	N	0.999066	B	0.06786	0.001	B	0.04013	0.001	T	0.47407	-0.9120	10	0.20519	T	0.43	.	9.1989	0.37246	0.58:0.0:0.42:0.0	.	160	O14771	ZN213_HUMAN	T	160	ENSP00000380087:A160T	ENSP00000380087:A160T	A	+	1	0	ZNF213	3128498	0.002000	0.14202	0.144000	0.22314	0.037000	0.13140	-0.203000	0.09438	-0.066000	0.12998	-0.345000	0.07892	GCA		0.677	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		9	61	0	0	0	1	0	9	61				
OR2A2	442361	broad.mit.edu	37	7	143807504	143807504	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:143807504C>T	ENST00000408979.2	+	1	898	c.829C>T	c.(829-831)Cac>Tac	p.H277Y		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GTCCCTGTTTCACAGTGTCTT	0.507																																						ENST00000408979.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22						c.(829-831)Cac>Tac		olfactory receptor, family 2, subfamily A, member 2							169.0	162.0	164.0					7																	143807504		1980	4189	6169	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807504C>T		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.829C>T	7.37:g.143807504C>T	ENSP00000386209:p.His277Tyr						p.H277Y	NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN			1	898	+	Melanoma(164;0.0783)		277					B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.829C>T	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.181607	0.00026	.	.	ENSG00000221989	ENST00000408979	T	0.00011	9.38	3.47	-2.13	0.07144	GPCR, rhodopsin-like superfamily (1);	0.805350	0.10084	N	0.718085	T	0.00012	0.0000	N	0.00021	-2.755	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40664	-0.9551	10	0.02654	T	1	-7.6351	7.9923	0.30248	0.0:0.4254:0.0:0.5746	.	277	Q6IF42	OR2A2_HUMAN	Y	277	ENSP00000386209:H277Y	ENSP00000386209:H277Y	H	+	1	0	OR2A2	143438437	0.000000	0.05858	0.011000	0.14972	0.021000	0.10359	-0.399000	0.07250	-0.517000	0.06461	-0.424000	0.05967	CAC		0.507	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			21	204	0	0	0	1	0	21	204				
AGAP3	116988	broad.mit.edu	37	7	150817139	150817139	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:150817139C>T	ENST00000463381.1	+	8	847	c.351C>T	c.(349-351)atC>atT	p.I117I	AGAP3_ENST00000397238.2_Silent_p.I345I|AGAP3_ENST00000473312.1_Silent_p.I345I|AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000335367.3_Silent_p.I525I	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	309	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CCCCCAGCATCAGCCAGCGGG	0.652																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(1033-1035)atC>atT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							54.0	66.0	62.0					7																	150817139		2164	4265	6429	SO:0001819	synonymous_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150817139C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.351C>T	7.37:g.150817139C>T						AGAP3_ENST00000473312.1_Silent_p.I345I|AGAP3_ENST00000335367.3_Silent_p.I525I|AGAP3_ENST00000463381.1_Silent_p.I117I|AGAP3_ENST00000479901.1_Intron	p.I345I	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			8	1035	+			309			Small GTPase-like.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Silent	SNP	ENST00000463381.1	37	c.1035C>T																																																																																					0.652	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		16	74	0	0	0	1	0	16	74				
HELZ	9931	broad.mit.edu	37	17	65103405	65103405	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:65103405G>T	ENST00000358691.5	-	31	5287	c.5121C>A	c.(5119-5121)caC>caA	p.H1707Q	HELZ_ENST00000580168.1_Missense_Mutation_p.H1708Q	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1707						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GCGGTGGCCTGTGAGGCAATG	0.458																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5119-5121)caC>caA		helicase with zinc finger							174.0	183.0	180.0					17																	65103405		1977	4155	6132	SO:0001583	missense	9931							g.chr17:65103405G>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5121C>A	17.37:g.65103405G>T	ENSP00000351524:p.His1707Gln					HELZ_ENST00000580168.1_Missense_Mutation_p.H1708Q	p.H1707Q	NM_014877.3	NP_055692.2					31	5287	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.5121C>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	9.745	1.165975	0.21538	.	.	ENSG00000198265	ENST00000358691	D	0.82893	-1.66	5.17	3.19	0.36642	.	0.170049	0.52532	N	0.000072	T	0.70596	0.3242	N	0.17082	0.46	0.26784	N	0.969536	B;B	0.26258	0.145;0.145	B;B	0.33521	0.165;0.165	T	0.58228	-0.7673	10	0.23891	T	0.37	-4.2659	9.884	0.41251	0.2784:0.0:0.7216:0.0	.	1708;1707	B7ZLW2;P42694	.;HELZ_HUMAN	Q	1707	ENSP00000351524:H1707Q	ENSP00000351524:H1707Q	H	-	3	2	HELZ	62533867	0.996000	0.38824	0.997000	0.53966	0.994000	0.84299	0.537000	0.23144	0.577000	0.29470	0.579000	0.79373	CAC		0.458	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		31	173	1	0	1.80694e-10	1	1.92305e-10	31	173				
LRRC4C	57689	broad.mit.edu	37	11	40137376	40137376	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:40137376C>T	ENST00000278198.2	-	2	2430	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R156Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	156					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.R156Q(2)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGGGTTGTTTCGCAACCAGAG	0.428																																						ENST00000278198.2																			2	Substitution - Missense(2)	p.R156Q(2)	lung(1)|skin(1)	NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(466-468)cGa>cAa		leucine rich repeat containing 4C							81.0	82.0	82.0					11																	40137376		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137376C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.467G>A	11.37:g.40137376C>T	ENSP00000278198:p.Arg156Gln					LRRC4C_ENST00000527150.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R156Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R156Q	p.R156Q			Q9HCJ2	LRC4C_HUMAN			2	2430	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	156					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.467G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960351	0.74016	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.91962	0.7454	N	0.21194	0.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	D	0.91733	0.5398	10	0.42905	T	0.14	.	19.0894	0.93221	0.0:1.0:0.0:0.0	.	156	Q9HCJ2	LRC4C_HUMAN	Q	156	ENSP00000278198:R156Q;ENSP00000436976:R156Q;ENSP00000437132:R156Q;ENSP00000434761:R156Q	ENSP00000278198:R156Q	R	-	2	0	LRRC4C	40093952	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.754000	0.94517	0.650000	0.86243	CGA		0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		8	70	0	0	0	1	0	8	70				
FAT4	79633	broad.mit.edu	37	4	126411726	126411726	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:126411726C>T	ENST00000394329.3	+	17	13762	c.13749C>T	c.(13747-13749)atC>atT	p.I4583I	FAT4_ENST00000335110.5_Silent_p.I2824I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4583					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACCAGATATCATTGAAAGGG	0.478																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13747-13749)atC>atT		FAT atypical cadherin 4							93.0	101.0	99.0					4																	126411726		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411726C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13749C>T	4.37:g.126411726C>T						FAT4_ENST00000335110.5_Silent_p.I2824I	p.I4583I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13762	+			4583					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.13749C>T	CCDS3732.3																																																																																				0.478	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		13	71	0	0	0	1	0	13	71				
MFNG	4242	broad.mit.edu	37	22	37882050	37882050	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr22:37882050C>T	ENST00000356998.3	-	1	389	c.166G>A	c.(166-168)Gtc>Atc	p.V56I	MFNG_ENST00000416983.3_Missense_Mutation_p.V56I	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	56					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GCAATGAAGACATCGTGTAGC	0.622																																						ENST00000356998.3																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(166-168)Gtc>Atc		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							50.0	51.0	50.0					22																	37882050		2203	4300	6503	SO:0001583	missense	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37882050C>T	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.166G>A	22.37:g.37882050C>T	ENSP00000349490:p.Val56Ile					MFNG_ENST00000416983.3_Missense_Mutation_p.V56I	p.V56I	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			1	389	-	Melanoma(58;0.0574)		56					B4DLT6|O43730|Q504S9	Missense_Mutation	SNP	ENST00000356998.3	37	c.166G>A	CCDS13947.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726857	0.30593	.	.	ENSG00000100060	ENST00000416983;ENST00000356998;ENST00000424765	T;T;T	0.60797	0.16;0.16;0.16	4.31	-0.634	0.11516	.	0.233611	0.36374	N	0.002638	T	0.31420	0.0796	N	0.16862	0.45	0.31735	N	0.636573	B;B	0.13594	0.006;0.008	B;B	0.19666	0.019;0.026	T	0.40270	-0.9572	10	0.05620	T	0.96	-14.4861	9.2057	0.37287	0.0:0.5477:0.0:0.4523	.	56;56	B4DLT6;O00587	.;MFNG_HUMAN	I	56	ENSP00000413855:V56I;ENSP00000349490:V56I;ENSP00000407110:V56I	ENSP00000349490:V56I	V	-	1	0	MFNG	36211996	0.965000	0.33210	0.219000	0.23793	0.151000	0.21798	0.293000	0.19029	-0.047000	0.13423	0.298000	0.19748	GTC		0.622	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		19	63	0	0	0	1	0	19	63				
YIPF7	285525	broad.mit.edu	37	4	44626764	44626764	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:44626764C>T	ENST00000332990.5	-	5	550	c.534G>A	c.(532-534)atG>atA	p.M178I	YIPF7_ENST00000415895.4_Missense_Mutation_p.M154I	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	178						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						CAATGGCACTCATGCCATACA	0.493																																						ENST00000332990.5																			0				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						c.(532-534)atG>atA		Yip1 domain family, member 7							71.0	73.0	73.0					4																	44626764		2055	4199	6254	SO:0001583	missense	285525					endoplasmic reticulum membrane|integral to membrane		g.chr4:44626764C>T	AK096895	CCDS54766.1	4p13	2008-08-07			ENSG00000177752	ENSG00000177752		"""Yip1 domain family"""	26825	protein-coding gene	gene with protein product							Standard	NM_182592		Approved	FLJ39576, FinGER9	uc021xnx.1	Q8N8F6	OTTHUMG00000160467	ENST00000332990.5:c.534G>A	4.37:g.44626764C>T	ENSP00000332772:p.Met178Ile						p.M178I	NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN			5	550	-			178					Q3SY21|Q3SY22	Missense_Mutation	SNP	ENST00000332990.5	37	c.534G>A	CCDS54766.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.688|3.688	-0.064133|-0.064133	0.07273|0.07273	.|.	.|.	ENSG00000177752|ENSG00000177752	ENST00000415895|ENST00000332990	.|T	.|0.39056	.|1.1	5.1|5.1	4.26|4.26	0.50523|0.50523	.|Yip1 domain (1);	.|.	.|.	.|.	.|.	T|T	0.11452|0.11452	0.0279|0.0279	N|N	0.00368|0.00368	-1.59|-1.59	0.34060|0.34060	D|D	0.657138|0.657138	.|B	.|0.06786	.|0.001	.|B	.|0.09377	.|0.004	T|T	0.23619|0.23619	-1.0183|-1.0183	5|9	.|0.02654	.|T	.|1	-18.2236|-18.2236	12.9339|12.9339	0.58303|0.58303	0.0:0.9222:0.0:0.0778|0.0:0.9222:0.0:0.0778	.|.	.|178	.|Q8N8F6	.|YIPF7_HUMAN	K|I	155|178	.|ENSP00000332772:M178I	.|ENSP00000332772:M178I	E|M	-|-	1|3	0|0	YIPF7|YIPF7	44321521|44321521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	1.157000|1.157000	0.31724|0.31724	1.381000|1.381000	0.46364|0.46364	0.655000|0.655000	0.94253|0.94253	GAG|ATG		0.493	YIPF7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_182592		4	16	0	0	0	1	0	4	16				
VPS18	57617	broad.mit.edu	37	15	41193186	41193186	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:41193186G>A	ENST00000220509.5	+	4	2509	c.2170G>A	c.(2170-2172)Gag>Aag	p.E724K	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	724					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGAGCTGTATGAGGAGGCCGT	0.602																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2170-2172)Gag>Aag		vacuolar protein sorting 18 homolog (S. cerevisiae)							47.0	42.0	44.0					15																	41193186		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41193186G>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2170G>A	15.37:g.41193186G>A	ENSP00000220509:p.Glu724Lys					VPS18_ENST00000558474.1_Intron	p.E724K	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	2509	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	724					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.2170G>A	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759329	0.89932	.	.	ENSG00000104142	ENST00000220509	T	0.18502	2.21	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	M	0.77406	2.37	0.80722	D	1	D	0.63880	0.993	D	0.69307	0.963	T	0.12656	-1.0539	10	0.30854	T	0.27	-29.9374	19.7629	0.96329	0.0:0.0:1.0:0.0	.	724	Q9P253	VPS18_HUMAN	K	724	ENSP00000220509:E724K	ENSP00000220509:E724K	E	+	1	0	VPS18	38980478	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.859000	0.99545	2.666000	0.90696	0.561000	0.74099	GAG		0.602	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			25	54	0	0	0	1	0	25	54				
MATN4	8785	broad.mit.edu	37	20	43933166	43933166	+	Silent	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr20:43933166C>G	ENST00000372754.1	-	2	353	c.345G>C	c.(343-345)ctG>ctC	p.L115L	MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000372741.3_5'Flank|MATN4_ENST00000360607.6_Silent_p.L115L|MATN4_ENST00000537548.1_Silent_p.L115L|MATN4_ENST00000353917.5_Silent_p.L115L|MATN4_ENST00000372756.1_Silent_p.L115L|RBPJL_ENST00000343694.3_5'Flank|MATN4_ENST00000342716.4_Silent_p.L115L|RBPJL_ENST00000372743.1_5'Flank			O95460	MATN4_HUMAN	matrilin 4	115	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACTGGATTGCCAGTCCCGTCA	0.682																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(343-345)ctG>ctC		matrilin 4							19.0	17.0	17.0					20																	43933166		2199	4290	6489	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43933166C>G	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.345G>C	20.37:g.43933166C>G						MATN4_ENST00000372754.1_Silent_p.L115L|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000353917.5_Silent_p.L115L|MATN4_ENST00000372756.1_Silent_p.L115L|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Silent_p.L115L|MATN4_ENST00000360607.5_Silent_p.L115L	p.L115L			O95460	MATN4_HUMAN			4	589	-		Myeloproliferative disorder(115;0.0122)	115			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.345G>C																																																																																					0.682	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			10	23	0	0	0	1	0	10	23				
TIE1	7075	broad.mit.edu	37	1	43770753	43770753	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:43770753C>G	ENST00000372476.3	+	2	369	c.290C>G	c.(289-291)tCg>tGg	p.S97W	TIE1_ENST00000538015.1_Missense_Mutation_p.S97W|TIE1_ENST00000441333.2_Missense_Mutation_p.S97W|TIE1_ENST00000433781.2_5'Flank	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	97	Ig-like C2-type 1.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCAAGCCCTCGGACCTCGTG	0.706																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(289-291)tCg>tGg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							18.0	22.0	20.0					1																	43770753		2198	4296	6494	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43770753C>G	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.290C>G	1.37:g.43770753C>G	ENSP00000361554:p.Ser97Trp					TIE1_ENST00000538015.1_Missense_Mutation_p.S97W|TIE1_ENST00000441333.2_Missense_Mutation_p.S97W	p.S97W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			2	369	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	97			Ig-like C2-type 1.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.290C>G	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994899	0.54041	.	.	ENSG00000066056	ENST00000372476;ENST00000441333;ENST00000538015	T;T;T	0.76316	-1.01;1.48;0.89	4.26	4.26	0.50523	.	0.000000	0.31323	U	0.007855	T	0.78559	0.4302	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.99;0.99;0.999;0.987;0.999	D;P;P;D;P;D	0.74674	0.975;0.67;0.773;0.977;0.809;0.984	T	0.81477	-0.0915	10	0.87932	D	0	.	12.1736	0.54173	0.0:1.0:0.0:0.0	.	52;97;97;97;97;97	B4DTW8;B5A952;B5A950;B5A948;B5A951;P35590	.;.;.;.;.;TIE1_HUMAN	W	97	ENSP00000361554:S97W;ENSP00000401903:S97W;ENSP00000440063:S97W	ENSP00000361554:S97W	S	+	2	0	TIE1	43543340	0.886000	0.30341	0.887000	0.34795	0.285000	0.27093	3.463000	0.53050	1.939000	0.56221	0.561000	0.74099	TCG		0.706	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		15	21	0	0	0	1	0	15	21				
FBXO18	84893	broad.mit.edu	37	10	5948426	5948426	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:5948426C>G	ENST00000362091.4	+	3	699	c.584C>G	c.(583-585)tCa>tGa	p.S195*	FBXO18_ENST00000379999.5_Nonsense_Mutation_p.S246*|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	195					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ATTCCTGACTCATACTATGGG	0.587																																						ENST00000379999.5																			0				NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						c.(736-738)tCa>tGa		F-box protein, helicase, 18							75.0	60.0	65.0					10																	5948426		2203	4300	6503	SO:0001587	stop_gained	84893				DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr10:5948426C>G	AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.584C>G	10.37:g.5948426C>G	ENSP00000355415:p.Ser195*					FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Nonsense_Mutation_p.S195*	p.S246*	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN			4	841	+			195					Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Nonsense_Mutation	SNP	ENST00000362091.4	37	c.737C>G	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751072	0.69533	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.76	3.89	0.44902	.	0.503564	0.22809	N	0.055363	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.2407	12.7978	0.57567	0.1309:0.7435:0.1256:0.0	.	.	.	.	X	195;246	.	ENSP00000355415:S195X	S	+	2	0	FBXO18	5988432	0.093000	0.21703	0.008000	0.14137	0.002000	0.02628	2.400000	0.44504	0.763000	0.33175	-0.169000	0.13324	TCA		0.587	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		12	34	0	0	0	1	0	12	34				
NLRP3	114548	broad.mit.edu	37	1	247582139	247582139	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:247582139G>C	ENST00000336119.3	+	1	789	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	NLRP3_ENST00000391828.3_Missense_Mutation_p.E15Q|NLRP3_ENST00000366496.2_Missense_Mutation_p.E15Q|NLRP3_ENST00000391827.2_Missense_Mutation_p.E15Q|NLRP3_ENST00000366497.2_Missense_Mutation_p.E15Q|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.E15Q	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	15	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGGTACCTGGAGGACCTGGA	0.542																																						ENST00000366497.2																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(43-45)Gag>Cag		NLR family, pyrin domain containing 3							43.0	44.0	44.0					1																	247582139		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582139G>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.43G>C	1.37:g.247582139G>C	ENSP00000337383:p.Glu15Gln					NLRP3_ENST00000391828.3_Missense_Mutation_p.E15Q|NLRP3_ENST00000391827.2_Missense_Mutation_p.E15Q|NLRP3_ENST00000336119.3_Missense_Mutation_p.E15Q|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.E15Q|NLRP3_ENST00000348069.2_Missense_Mutation_p.E15Q	p.E15Q	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		2	823	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	15			DAPIN.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.43G>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844316	0.71488	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	4.49	4.49	0.54785	Pyrin (2);DEATH-like (2);	0.129222	0.35870	N	0.002929	T	0.75012	0.3792	M	0.79693	2.465	0.42460	D	0.99278	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.979	D;P;D;D;P	0.97110	1.0;0.903;0.999;0.989;0.893	T	0.76465	-0.2949	10	0.45353	T	0.12	.	12.8787	0.58003	0.0:0.0:1.0:0.0	.	15;15;15;15;15	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	Q	15	ENSP00000375704:E15Q;ENSP00000355453:E15Q;ENSP00000337383:E15Q;ENSP00000294752:E15Q;ENSP00000355452:E15Q;ENSP00000375703:E15Q	ENSP00000337383:E15Q	E	+	1	0	NLRP3	245648762	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	3.118000	0.50414	2.498000	0.84270	0.561000	0.74099	GAG		0.542	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		7	81	0	0	0	1	0	7	81				
RGMA	56963	broad.mit.edu	37	15	93588297	93588297	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr15:93588297C>T	ENST00000329082.7	-	4	1555	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L	RGMA_ENST00000542321.2_Silent_p.L412L|RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000425933.2_Silent_p.L412L|RGMA_ENST00000538818.1_Silent_p.L319L|RGMA_ENST00000543599.1_Silent_p.L412L|RGMA_ENST00000556658.1_Silent_p.L319L|RGMA_ENST00000557301.1_Silent_p.L436L	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	428					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGGCCAGGGGCAGCCCCGCAG	0.667																																						ENST00000329082.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9						c.(1282-1284)ctG>ctA		repulsive guidance molecule family member a							16.0	18.0	17.0					15																	93588297		1918	4111	6029	SO:0001819	synonymous_variant	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93588297C>T	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.1284G>A	15.37:g.93588297C>T						RGMA_ENST00000538818.1_Silent_p.L319L|RGMA_ENST00000543599.1_Silent_p.L412L|RGMA_ENST00000556658.1_Silent_p.L319L|RGMA_ENST00000425933.2_Silent_p.L412L|RGMA_ENST00000557301.1_Silent_p.L436L|RGMA_ENST00000542321.2_Silent_p.L412L|RGMA_ENST00000557420.1_3'UTR	p.L428L	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		4	1555	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		428					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	ENST00000329082.7	37	c.1284G>A	CCDS45357.1																																																																																				0.667	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		3	10	0	0	0	1	0	3	10				
TMEM51	55092	broad.mit.edu	37	1	15541866	15541866	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:15541866G>T	ENST00000428417.1	+	2	729	c.283G>T	c.(283-285)Gag>Tag	p.E95*	TMEM51_ENST00000376014.3_Nonsense_Mutation_p.E95*|TMEM51_ENST00000434578.2_Nonsense_Mutation_p.E95*|TMEM51_ENST00000376008.2_Nonsense_Mutation_p.E95*|TMEM51_ENST00000400796.3_Nonsense_Mutation_p.E95*	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	95						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GCGGCAGGGCGAGGACCTGGC	0.652																																						ENST00000428417.1																			0				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14						c.(283-285)Gag>Tag		transmembrane protein 51							41.0	36.0	37.0					1																	15541866		2203	4300	6503	SO:0001587	stop_gained	55092					integral to membrane		g.chr1:15541866G>T	AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.283G>T	1.37:g.15541866G>T	ENSP00000394899:p.Glu95*					TMEM51_ENST00000400796.3_Nonsense_Mutation_p.E95*|TMEM51_ENST00000376014.3_Nonsense_Mutation_p.E95*|TMEM51_ENST00000376008.2_Nonsense_Mutation_p.E95*|TMEM51_ENST00000434578.2_Nonsense_Mutation_p.E95*	p.E95*	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)	2	729	+		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)	95					A8K819	Nonsense_Mutation	SNP	ENST00000428417.1	37	c.283G>T	CCDS154.1	.	.	.	.	.	.	.	.	.	.	G	38	7.011891	0.98002	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	.	.	.	5.43	5.43	0.79202	.	0.341805	0.30501	N	0.009486	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-3.8406	11.666	0.51374	0.0807:0.0:0.9193:0.0	.	.	.	.	X	95	.	ENSP00000303666:E95X	E	+	1	0	TMEM51	15414453	1.000000	0.71417	0.978000	0.43139	0.554000	0.35429	2.576000	0.46033	2.564000	0.86499	0.655000	0.94253	GAG		0.652	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3	NM_018022		16	38	1	0	3.32936e-07	1	3.50111e-07	16	38				
ALOX5	240	broad.mit.edu	37	10	45941106	45941106	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr10:45941106G>C	ENST00000374391.2	+	14	2049	c.1996G>C	c.(1996-1998)Gac>Cac	p.D666H	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Missense_Mutation_p.D609H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	666	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CTTGTCCCCAGACCGGATTCC	0.587																																						ENST00000374391.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1996-1998)Gac>Cac		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)						102.0	95.0	98.0					10																	45941106		2203	4300	6503	SO:0001583	missense	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45941106G>C	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1996G>C	10.37:g.45941106G>C	ENSP00000363512:p.Asp666His					ALOX5_ENST00000542434.1_Missense_Mutation_p.D609H|RP11-67C2.2_ENST00000435635.1_RNA	p.D666H	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN			14	2049	+		Lung SC(717;0.0257)	666			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Missense_Mutation	SNP	ENST00000374391.2	37	c.1996G>C	CCDS7212.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502360	0.64298	.	.	ENSG00000012779	ENST00000542434;ENST00000374391	D;D	0.89810	-2.57;-2.57	5.44	5.44	0.79542	Lipoxygenase, C-terminal (2);	0.042369	0.85682	D	0.000000	D	0.94052	0.8094	M	0.76574	2.34	0.48830	D	0.999713	D;P;P	0.89917	1.0;0.513;0.47	D;B;B	0.97110	1.0;0.29;0.248	D	0.93648	0.6970	10	0.52906	T	0.07	-60.4843	16.8112	0.85720	0.0:0.0:1.0:0.0	.	609;634;666	B7ZLS0;E5FPY8;P09917	.;.;LOX5_HUMAN	H	609;666	ENSP00000437634:D609H;ENSP00000363512:D666H	ENSP00000363512:D666H	D	+	1	0	ALOX5	45261112	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	6.496000	0.73670	2.837000	0.97791	0.655000	0.94253	GAC		0.587	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1			14	123	0	0	0	1	0	14	123				
ZNF454	285676	broad.mit.edu	37	5	178369801	178369801	+	Silent	SNP	C	C	G			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr5:178369801C>G	ENST00000320129.3	+	2	312	c.9C>G	c.(7-9)gtC>gtG	p.V3V	ZNF454_ENST00000519564.1_Silent_p.V3V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GAATGGCTGTCAGCCACCTGC	0.537																																						ENST00000320129.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46						c.(7-9)gtC>gtG		zinc finger protein 454							105.0	101.0	102.0					5																	178369801		2203	4300	6503	SO:0001819	synonymous_variant	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178369801C>G	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.9C>G	5.37:g.178369801C>G						ZNF454_ENST00000519564.1_Silent_p.V3V	p.V3V	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	2	312	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	3					Q2M1P2|Q2M323	Silent	SNP	ENST00000320129.3	37	c.9C>G	CCDS4441.1																																																																																				0.537	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		10	52	0	0	0	1	0	10	52				
EPHA2	1969	broad.mit.edu	37	1	16456780	16456780	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:16456780G>A	ENST00000358432.5	-	15	2764	c.2610C>T	c.(2608-2610)atC>atT	p.I870I		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	870	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GCTTGTCCAGGATGCTGACGA	0.602																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(2608-2610)atC>atT		EPH receptor A2	Dasatinib(DB01254)						93.0	87.0	89.0					1																	16456780		2203	4300	6503	SO:0001819	synonymous_variant	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16456780G>A	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2610C>T	1.37:g.16456780G>A							p.I870I	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	15	2764	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	870			Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.		B5A968|Q8N3Z2	Silent	SNP	ENST00000358432.5	37	c.2610C>T	CCDS169.1																																																																																				0.602	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		12	74	0	0	0	1	0	12	74				
ZBTB49	166793	broad.mit.edu	37	4	4322525	4322525	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:4322525G>C	ENST00000337872.4	+	8	1901	c.1780G>C	c.(1780-1782)Gat>Cat	p.D594H	RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000538529.1_Missense_Mutation_p.D77H|ZBTB49_ENST00000355834.3_Missense_Mutation_p.D472H	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	594					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(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CGAGAGCCCAGATGTGCTGGA	0.562																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1780-1782)Gat>Cat		zinc finger and BTB domain containing 49							63.0	57.0	59.0					4																	4322525		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322525G>C	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1780G>C	4.37:g.4322525G>C	ENSP00000338807:p.Asp594His					ZBTB49_ENST00000355834.3_Missense_Mutation_p.D472H|ZBTB49_ENST00000538529.1_Missense_Mutation_p.D77H	p.D594H	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			8	1901	+			594					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1780G>C	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	8.464	0.856047	0.17106	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.15487	2.42;2.76;3.08	4.37	0.941	0.19519	.	1.081160	0.07286	N	0.871576	T	0.14917	0.0360	L	0.44542	1.39	0.09310	N	1	P;P	0.43094	0.799;0.744	P;B	0.44946	0.465;0.268	T	0.21280	-1.0250	10	0.16420	T	0.52	.	2.1434	0.03780	0.4689:0.0:0.2855:0.2456	.	472;594	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	H	472;594;77	ENSP00000348091:D472H;ENSP00000338807:D594H;ENSP00000445653:D77H	ENSP00000338807:D594H	D	+	1	0	ZBTB49	4373426	0.022000	0.18835	0.002000	0.10522	0.095000	0.18619	2.289000	0.43523	0.385000	0.24970	0.455000	0.32223	GAT		0.562	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		9	54	0	0	0	1	0	9	54				
PIK3C2G	5288	broad.mit.edu	37	12	18658283	18658283	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:18658283G>C	ENST00000266497.5	+	22	3126	c.3088G>C	c.(3088-3090)Gga>Cga	p.G1030R	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1071R|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.G1030R			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1030	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTCATCCTGGGAGTATGTGA	0.383																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3088-3090)Gga>Cga		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							123.0	106.0	112.0					12																	18658283		1936	4154	6090	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18658283G>C	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3088G>C	12.37:g.18658283G>C	ENSP00000266497:p.Gly1030Arg					PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1071R|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1030R	p.G1030R	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			23	3204	+		Hepatocellular(102;0.194)	1030			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3088G>C	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794018	0.90453	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.84370	-1.84;-1.84;-1.84	5.33	5.33	0.75918	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.133951	0.49916	D	0.000128	D	0.93897	0.8047	M	0.90198	3.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94661	0.7848	10	0.87932	D	0	-20.1696	18.194	0.89815	0.0:0.0:1.0:0.0	.	1070;1071;1030	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	R	1030;1030;1071	ENSP00000404845:G1030R;ENSP00000266497:G1030R;ENSP00000445381:G1071R	ENSP00000266497:G1030R	G	+	1	0	PIK3C2G	18549550	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.657000	0.98554	2.771000	0.95319	0.650000	0.86243	GGA		0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		5	21	0	0	0	1	0	5	21				
CLASP2	23122	broad.mit.edu	37	3	33661222	33661222	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:33661222G>A	ENST00000468888.2	-	12	1239	c.1193C>T	c.(1192-1194)tCa>tTa	p.S398L	CLASP2_ENST00000313350.6_Missense_Mutation_p.S170L|CLASP2_ENST00000359576.5_Missense_Mutation_p.S397L|CLASP2_ENST00000487200.1_Missense_Mutation_p.S170L|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000482896.1_5'Flank|CLASP2_ENST00000333778.6_Missense_Mutation_p.S174L|CLASP2_ENST00000461133.3_Missense_Mutation_p.S164L|CLASP2_ENST00000539981.1_Missense_Mutation_p.S149L|CLASP2_ENST00000399362.4_Missense_Mutation_p.S397L|CLASP2_ENST00000480013.1_Missense_Mutation_p.S164L			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	164	Ser-rich.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAAAACTGTTGAAAGGTGGCT	0.323																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1189-1191)tCa>tTa		cytoplasmic linker associated protein 2							52.0	48.0	49.0					3																	33661222		1841	4090	5931	SO:0001583	missense	23122							g.chr3:33661222G>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.1193C>T	3.37:g.33661222G>A	ENSP00000419974:p.Ser398Leu					CLASP2_ENST00000461133.3_Missense_Mutation_p.S164L|CLASP2_ENST00000333778.6_Missense_Mutation_p.S174L|CLASP2_ENST00000313350.6_Missense_Mutation_p.S170L|CLASP2_ENST00000359576.5_Missense_Mutation_p.S397L|CLASP2_ENST00000480013.1_Missense_Mutation_p.S164L|CLASP2_ENST00000487200.1_Missense_Mutation_p.S170L|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000468888.2_Missense_Mutation_p.S398L|CLASP2_ENST00000539981.1_Missense_Mutation_p.S149L	p.S397L	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			12	1543	-			398					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.1190C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.554576	0.96501	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778;ENST00000485378;ENST00000496954	T;T;T;T;T;T;T;T;T;T;T	0.66995	0.02;0.02;0.02;0.06;-0.24;0.06;1.03;1.03;1.03;-0.24;-0.24	5.73	5.73	0.89815	.	0.066362	0.64402	D	0.000006	T	0.80798	0.4692	M	0.76574	2.34	0.80722	D	1	P;P;P;D	0.60575	0.767;0.954;0.725;0.988	P;P;P;P	0.59825	0.562;0.864;0.565;0.778	T	0.82305	-0.0523	10	0.87932	D	0	-15.496	19.9019	0.96988	0.0:0.0:1.0:0.0	.	174;170;170;397	E7ENG2;B3KR06;O75122-2;F5H604	.;.;.;.	L	398;397;397;149;164;164;170;170;174;170;165	ENSP00000419974:S398L;ENSP00000382297:S397L;ENSP00000352581:S397L;ENSP00000439039:S149L;ENSP00000417518:S164L;ENSP00000419305:S164L;ENSP00000324364:S170L;ENSP00000418939:S170L;ENSP00000327760:S174L;ENSP00000418945:S170L;ENSP00000418411:S165L	ENSP00000324364:S170L	S	-	2	0	CLASP2	33636226	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	7.992000	0.88273	2.698000	0.92095	0.591000	0.81541	TCA		0.323	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		3	8	0	0	0	1	0	3	8				
VSIG10	54621	broad.mit.edu	37	12	118520021	118520021	+	Missense_Mutation	SNP	G	G	A	rs543565996		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:118520021G>A	ENST00000359236.5	-	3	851	c.575C>T	c.(574-576)tCg>tTg	p.S192L	VSIG10_ENST00000536905.1_5'Flank	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	192	Ig-like C2-type 2.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GAGGTTTGGCGATATCAGTAA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		16791	0.0		0.001	False		,,,				2504	0.0					ENST00000359236.5																			0				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(574-576)tCg>tTg		V-set and immunoglobulin domain containing 10							121.0	121.0	121.0					12																	118520021		2007	4172	6179	SO:0001583	missense	54621					integral to membrane		g.chr12:118520021G>A		CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.575C>T	12.37:g.118520021G>A	ENSP00000352172:p.Ser192Leu						p.S192L	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN			3	851	-			192			Ig-like C2-type 2.		Q9NWQ7	Missense_Mutation	SNP	ENST00000359236.5	37	c.575C>T	CCDS44992.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215759	0.79352	.	.	ENSG00000176834	ENST00000359236	T	0.15952	2.38	5.62	5.62	0.85841	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.185390	0.26750	N	0.022697	T	0.36936	0.0985	M	0.72118	2.19	0.32324	N	0.562055	D	0.69078	0.997	D	0.63381	0.914	T	0.35276	-0.9795	10	0.27785	T	0.31	-11.8388	14.4634	0.67467	0.0:0.1474:0.8526:0.0	.	192	Q8N0Z9	VSI10_HUMAN	L	192	ENSP00000352172:S192L	ENSP00000352172:S192L	S	-	2	0	VSIG10	117004404	0.998000	0.40836	0.836000	0.33094	0.882000	0.50991	5.973000	0.70456	2.809000	0.96659	0.650000	0.86243	TCG		0.517	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401273.2	NM_019086		19	110	0	0	0	1	0	19	110				
CDCP1	64866	broad.mit.edu	37	3	45127156	45127156	+	Missense_Mutation	SNP	G	G	C	rs202022891		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:45127156G>C	ENST00000296129.1	-	9	2619	c.2485C>G	c.(2485-2487)Cag>Gag	p.Q829E		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	829						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATGGGCTCCTGAGTGTTCAGT	0.522																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(2485-2487)Cag>Gag		CUB domain containing protein 1							155.0	147.0	150.0					3																	45127156		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45127156G>C	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2485C>G	3.37:g.45127156G>C	ENSP00000296129:p.Gln829Glu						p.Q829E	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	9	2619	-			829					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.2485C>G	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630923	0.28978	.	.	ENSG00000163814	ENST00000296129	T	0.22539	1.95	5.67	3.71	0.42584	.	0.374268	0.29653	N	0.011556	T	0.12732	0.0309	N	0.22421	0.69	0.22017	N	0.999418	B	0.17465	0.022	B	0.18871	0.023	T	0.14755	-1.0461	10	0.41790	T	0.15	.	6.5367	0.22357	0.0939:0.0:0.6158:0.2903	.	829	Q9H5V8	CDCP1_HUMAN	E	829	ENSP00000296129:Q829E	ENSP00000296129:Q829E	Q	-	1	0	CDCP1	45102160	0.873000	0.30073	0.002000	0.10522	0.018000	0.09664	1.831000	0.39141	1.407000	0.46875	0.563000	0.77884	CAG		0.522	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		27	106	0	0	0	1	0	27	106				
RNF148	378925	broad.mit.edu	37	7	122342732	122342732	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:122342732G>A	ENST00000434824.1	-	1	289	c.73C>T	c.(73-75)Cta>Tta	p.L25L	RNF148_ENST00000447240.1_Silent_p.L25L|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	25						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTAAGTAGTAGAAAGATACTA	0.403																																						ENST00000434824.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						c.(73-75)Cta>Tta		ring finger protein 148							52.0	45.0	47.0					7																	122342732		1862	4099	5961	SO:0001819	synonymous_variant	378925					integral to membrane	zinc ion binding	g.chr7:122342732G>A	BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.73C>T	7.37:g.122342732G>A						CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Silent_p.L25L|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	p.L25L	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN			1	289	-			25					A4D0X4|Q8N308	Silent	SNP	ENST00000434824.1	37	c.73C>T	CCDS47692.1																																																																																				0.403	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1	NM_198085		5	22	0	0	0	1	0	5	22				
ATF7	11016	broad.mit.edu	37	12	53911088	53911088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:53911088G>A	ENST00000548446.2	-	12	1430	c.1318C>T	c.(1318-1320)Cag>Tag	p.Q440*	RP11-793H13.3_ENST00000548347.1_RNA|ATF7_ENST00000420353.2_Nonsense_Mutation_p.Q429*|ATF7_ENST00000328463.7_Nonsense_Mutation_p.Q440*|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000415113.1_Nonsense_Mutation_p.Q408*|ATF7_ENST00000456903.4_Nonsense_Mutation_p.Q429*|RP11-793H13.10_ENST00000591834.1_Intron			P17544	ATF7_HUMAN	activating transcription factor 7	440	Essential for binding adenovirus 2 E1A.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9					Pseudoephedrine(DB00852)	GAGCTGTGCTGAATCACAGGG	0.562																																						ENST00000420353.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						c.(1285-1287)Cag>Tag		activating transcription factor 7							72.0	75.0	74.0					12																	53911088		2024	4195	6219	SO:0001587	stop_gained	11016				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:53911088G>A	X52943	CCDS44906.1, CCDS58238.1	12q13	2013-01-10				ENSG00000170653		"""basic leucine zipper proteins"""	792	protein-coding gene	gene with protein product		606371				1694576, 11278933	Standard	NM_006856		Approved	ATFA	uc001sdz.3	P17544	OTTHUMG00000169776	ENST00000548446.2:c.1318C>T	12.37:g.53911088G>A	ENSP00000449938:p.Gln440*					RP11-793H13.3_ENST00000548347.1_RNA|ATF7_ENST00000456903.4_Nonsense_Mutation_p.Q429*|ATF7_ENST00000328463.7_Nonsense_Mutation_p.Q440*|ATF7_ENST00000546661.1_5'UTR|RP11-793H13.10_ENST00000591834.1_Intron|ATF7_ENST00000415113.1_Nonsense_Mutation_p.Q408*|ATF7_ENST00000548446.2_Nonsense_Mutation_p.Q440*	p.Q429*	NM_006856.2	NP_006847.1	P17544	ATF7_HUMAN			12	1434	-			440			Essential for binding adenovirus 2 E1A.		A5D6Y4|B2RMP1|B4DQL4|Q13814|Q8IVR8|Q9UD83	Nonsense_Mutation	SNP	ENST00000548446.2	37	c.1285C>T		.	.	.	.	.	.	.	.	.	.	G	29.5	5.013180	0.93346	.	.	ENSG00000170653	ENST00000548446;ENST00000328463;ENST00000306727;ENST00000415113;ENST00000420353;ENST00000456903	.	.	.	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.0587	16.792	0.85591	0.0:0.0:1.0:0.0	.	.	.	.	X	440;440;253;408;429;429	.	ENSP00000304187:Q253X	Q	-	1	0	ATF7	52197355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.662000	0.91130	2.582000	0.87167	0.555000	0.69702	CAG		0.562	ATF7-007	KNOWN	NMD_exception|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000406302.2	NM_001130059		9	34	0	0	0	1	0	9	34				
MAST3	23031	broad.mit.edu	37	19	18255834	18255834	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr19:18255834T>C	ENST00000262811.6	+	23	2747	c.2747T>C	c.(2746-2748)cTc>cCc	p.L916P	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	916	Ser-rich.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCGGCCCCCTCATGAGCCCC	0.692																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2746-2748)cTc>cCc		microtubule associated serine/threonine kinase 3							18.0	24.0	22.0					19																	18255834		1914	4113	6027	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18255834T>C	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2747T>C	19.37:g.18255834T>C	ENSP00000262811:p.Leu916Pro					AC007192.6_ENST00000600364.1_RNA	p.L916P	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			23	2747	+			916			Ser-rich.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.2747T>C	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.656795	0.29425	.	.	ENSG00000099308	ENST00000262811	T	0.71461	-0.57	4.48	4.48	0.54585	PDZ/DHR/GLGF (1);	0.199091	0.36932	N	0.002324	T	0.72692	0.3492	M	0.85197	2.74	0.80722	D	1	B	0.24092	0.097	B	0.19391	0.025	T	0.73566	-0.3942	10	0.51188	T	0.08	-29.5577	12.9319	0.58292	0.0:0.0:0.0:1.0	.	916	O60307	MAST3_HUMAN	P	916	ENSP00000262811:L916P	ENSP00000262811:L916P	L	+	2	0	MAST3	18116834	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	2.845000	0.48254	1.673000	0.50895	0.260000	0.18958	CTC		0.692	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		10	41	0	0	0	1	0	10	41				
SCN4A	6329	broad.mit.edu	37	17	62022765	62022765	+	Silent	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:62022765G>C	ENST00000435607.1	-	19	3751	c.3675C>G	c.(3673-3675)gtC>gtG	p.V1225V	SCN4A_ENST00000578147.1_Silent_p.V1225V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1225					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTCGTAGTTGACCTTGACAT	0.617																																						ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3673-3675)gtC>gtG		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						140.0	146.0	144.0					17																	62022765		2177	4277	6454	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62022765G>C	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3675C>G	17.37:g.62022765G>C						SCN4A_ENST00000435607.1_Silent_p.V1225V	p.V1225V			P35499	SCN4A_HUMAN			19	3751	-			1225					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3675C>G	CCDS45761.1																																																																																				0.617	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		63	93	0	0	0	1	0	63	93				
PHIP	55023	broad.mit.edu	37	6	79656513	79656513	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:79656513G>C	ENST00000275034.4	-	37	4452	c.4285C>G	c.(4285-4287)Ctt>Gtt	p.L1429V	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1429					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGAAAACGAAGAGCAGATTTA	0.348																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4285-4287)Ctt>Gtt		pleckstrin homology domain interacting protein							84.0	87.0	86.0					6																	79656513		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79656513G>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4285C>G	6.37:g.79656513G>C	ENSP00000275034:p.Leu1429Val					PHIP_ENST00000479165.1_5'UTR	p.L1429V	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	37	4452	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1429					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.4285C>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	5.147	0.212650	0.09757	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.38887	1.11	5.76	5.76	0.90799	Bromodomain (2);	0.000000	0.64402	D	0.000006	T	0.14356	0.0347	N	0.19112	0.55	0.43308	D	0.995311	B;B	0.17268	0.021;0.021	B;B	0.12837	0.008;0.008	T	0.06752	-1.0809	9	.	.	.	-17.3639	12.6315	0.56659	0.0753:0.0:0.9247:0.0	.	1429;1429	A7J992;Q8WWQ0	.;PHIP_HUMAN	V	1429;155	ENSP00000275034:L1429V	.	L	-	1	0	PHIP	79713232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.166000	0.50785	2.880000	0.98712	0.650000	0.86243	CTT		0.348	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			6	49	0	0	0	1	0	6	49				
KRT83	3889	broad.mit.edu	37	12	52711548	52711548	+	Missense_Mutation	SNP	C	C	T	rs149581248	byFrequency	TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr12:52711548C>T	ENST00000293670.3	-	4	729	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	223	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGGAGGTAGGCGCAGTCCACA	0.627													c|||	3	0.000599042	0.0	0.0014	5008	,	,		18600	0.002		0.0	False		,,,				2504	0.0				GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(667-669)Gcc>Acc		keratin 83		C	THR/ALA	0,4406		0,0,2203	92.0	92.0	92.0		667	4.6	1.0	12	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	no	missense	KRT83	NM_002282.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	223/494	52711548	2,13004	2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52711548C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.667G>A	12.37:g.52711548C>T	ENSP00000293670:p.Ala223Thr						p.A223T	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	4	729	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		223			Coil 1B.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.667G>A	CCDS8823.1	10	0.004578754578754579	6	0.012195121951219513	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	18.20	3.571196	0.65765	0.0	2.33E-4	ENSG00000170523	ENST00000293670	T	0.75477	-0.94	4.64	4.64	0.57946	Filament (1);	0.000000	0.42420	U	0.000702	T	0.67859	0.2938	M	0.80982	2.52	0.38691	D	0.952765	B	0.29835	0.258	B	0.33690	0.168	T	0.76105	-0.3081	10	0.66056	D	0.02	.	8.1081	0.30898	0.17:0.7447:0.0:0.0853	.	223	P78385	KRT83_HUMAN	T	223	ENSP00000293670:A223T	ENSP00000293670:A223T	A	-	1	0	KRT83	50997815	0.942000	0.31987	1.000000	0.80357	0.899000	0.52679	2.119000	0.41958	2.299000	0.77371	0.655000	0.94253	GCC		0.627	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		30	122	0	0	0	1	0	30	122				
CEP350	9857	broad.mit.edu	37	1	180031466	180031466	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:180031466C>A	ENST00000367607.3	+	26	5792	c.5374C>A	c.(5374-5376)Cag>Aag	p.Q1792K		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1792					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CATAAAACTACAGGAGAAATT	0.403																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(5374-5376)Cag>Aag		centrosomal protein 350kDa							45.0	42.0	43.0					1																	180031466		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180031466C>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5374C>A	1.37:g.180031466C>A	ENSP00000356579:p.Gln1792Lys						p.Q1792K	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			26	5792	+			1792					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.5374C>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.567059	0.45694	.	.	ENSG00000135837	ENST00000367607	T	0.43688	0.94	5.58	5.58	0.84498	.	0.000000	0.42294	D	0.000739	T	0.33265	0.0857	N	0.14661	0.345	0.40092	D	0.976264	B;P	0.35714	0.274;0.517	B;B	0.40038	0.056;0.317	T	0.10428	-1.0630	9	.	.	.	.	19.1681	0.93565	0.0:1.0:0.0:0.0	.	1792;1792	E7EU22;Q5VT06	.;CE350_HUMAN	K	1792	ENSP00000356579:Q1792K	.	Q	+	1	0	CEP350	178298089	1.000000	0.71417	0.984000	0.44739	0.958000	0.62258	5.807000	0.69157	2.628000	0.89032	0.563000	0.77884	CAG		0.403	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	17	1	0	0.115264	1	0.115701	3	17				
KRT12	3859	broad.mit.edu	37	17	39021192	39021192	+	Missense_Mutation	SNP	G	G	A	rs368116028		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:39021192G>A	ENST00000251643.4	-	3	696	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	225	Coil 1B.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R225C(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	ACGCCCTGGCGCAGGGCCAGT	0.552																																						ENST00000251643.4																			2	Substitution - Missense(2)	p.R225C(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(673-675)Cgc>Tgc		keratin 12		G	CYS/ARG	0,4406		0,0,2203	68.0	68.0	68.0		673	2.4	0.2	17		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT12	NM_000223.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	225/495	39021192	1,13005	2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39021192G>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.673C>T	17.37:g.39021192G>A	ENSP00000251643:p.Arg225Cys						p.R225C	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			3	696	-		Breast(137;0.000301)	225			Coil 1B.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.673C>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.841312	0.51057	0.0	1.16E-4	ENSG00000187242	ENST00000251643	D	0.91792	-2.91	5.96	2.42	0.29668	Filament (1);	0.548852	0.16745	N	0.201287	D	0.90442	0.7007	M	0.86864	2.845	0.51482	D	0.999921	B	0.27951	0.195	B	0.22386	0.039	D	0.87389	0.2362	10	0.72032	D	0.01	.	4.3176	0.11000	0.1513:0.1201:0.6051:0.1235	.	225	Q99456	K1C12_HUMAN	C	225	ENSP00000251643:R225C	ENSP00000251643:R225C	R	-	1	0	KRT12	36274718	0.279000	0.24239	0.228000	0.23943	0.263000	0.26337	2.768000	0.47645	0.702000	0.31825	0.655000	0.94253	CGC		0.552	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		15	67	0	0	0	1	0	15	67				
DRC7	84229	broad.mit.edu	37	16	57760012	57760012	+	Silent	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:57760012G>A	ENST00000360716.3	+	14	2012	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A	CCDC135_ENST00000336825.8_Silent_p.A532A|CCDC135_ENST00000394337.4_Silent_p.A597A			Q8IY82	CC135_HUMAN		597					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						GCAACCCAGCGAAGCCCGCGG	0.602																																						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.(1789-1791)gcG>gcA		coiled-coil domain containing 135							42.0	37.0	39.0					16																	57760012		2198	4298	6496	SO:0001819	synonymous_variant	84229					cytoplasm		g.chr16:57760012G>A																												ENST00000360716.3:c.1791G>A	16.37:g.57760012G>A						CCDC135_ENST00000336825.8_Silent_p.A532A|CCDC135_ENST00000394337.4_Silent_p.A597A	p.A597A			Q8IY82	CC135_HUMAN			14	2012	+			597					A8K943|Q8NAA0|Q9H080	Silent	SNP	ENST00000360716.3	37	c.1791G>A	CCDS10787.1																																																																																				0.602	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			7	23	0	0	0	1	0	7	23				
MLKL	197259	broad.mit.edu	37	16	74729454	74729454	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:74729454C>A	ENST00000308807.7	-	2	665	c.202G>T	c.(202-204)Gcc>Tcc	p.A68S	MLKL_ENST00000306247.7_Missense_Mutation_p.A68S	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCCTCCAGGGCAGCCTTGAAG	0.512																																						ENST00000308807.7																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.(202-204)Gcc>Tcc		mixed lineage kinase domain-like							108.0	104.0	106.0					16																	74729454		2198	4300	6498	SO:0001583	missense	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74729454C>A	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.202G>T	16.37:g.74729454C>A	ENSP00000308351:p.Ala68Ser					MLKL_ENST00000306247.7_Missense_Mutation_p.A68S	p.A68S	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			2	665	-			68						Missense_Mutation	SNP	ENST00000308807.7	37	c.202G>T	CCDS32487.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222693	0.39300	.	.	ENSG00000168404	ENST00000308807;ENST00000306247	T;T	0.79352	-1.26;2.6	4.42	3.47	0.39725	.	0.595355	0.17695	N	0.165132	T	0.73125	0.3547	L	0.27053	0.805	0.09310	N	1	D;P	0.62365	0.991;0.842	P;B	0.53861	0.736;0.324	T	0.63283	-0.6672	10	0.54805	T	0.06	0.0709	8.6049	0.33767	0.0:0.8891:0.0:0.1109	.	68;68	Q8NB16-2;Q8NB16	.;MLKL_HUMAN	S	68	ENSP00000308351:A68S;ENSP00000303118:A68S	ENSP00000303118:A68S	A	-	1	0	MLKL	73286955	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.370000	0.20433	1.169000	0.42739	0.650000	0.86243	GCC		0.512	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649		8	59	1	0	1.12685e-05	1	1.17565e-05	8	59				
RNF216	54476	broad.mit.edu	37	7	5800679	5800679	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:5800679C>T	ENST00000425013.2	-	2	246	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	RNF216_ENST00000389902.3_Missense_Mutation_p.E8K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	8					apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATTACCTCTTCATTGTTGTTT	0.388																																						ENST00000425013.2																		FBXL18/RNF216(2)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33						c.(22-24)Gaa>Aaa		ring finger protein 216							145.0	124.0	131.0					7																	5800679		2203	4298	6501	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr7:5800679C>T	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.22G>A	7.37:g.5800679C>T	ENSP00000404602:p.Glu8Lys					RNF216_ENST00000389902.3_Missense_Mutation_p.E8K	p.E8K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	2	246	-		Ovarian(82;0.07)	8					Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.22G>A	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266433	0.80358	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425;ENST00000416985	T;T	0.59906	0.23;0.35	4.88	3.99	0.46301	.	0.081344	0.50627	D	0.000103	T	0.67458	0.2895	L	0.50333	1.59	0.33477	D	0.586949	B;D	0.76494	0.015;0.999	B;D	0.81914	0.016;0.995	T	0.76135	-0.3070	10	0.87932	D	0	-10.6713	9.4853	0.38926	0.0:0.9002:0.0:0.0998	.	8;8	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	K	8	ENSP00000404602:E8K;ENSP00000374552:E8K	ENSP00000374550:E8K	E	-	1	0	RNF216	5767205	0.998000	0.40836	0.987000	0.45799	0.992000	0.81027	1.727000	0.38095	1.179000	0.42884	0.650000	0.86243	GAA		0.388	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		8	48	0	0	0	1	0	8	48				
NAA15	80155	broad.mit.edu	37	4	140270652	140270652	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr4:140270652C>T	ENST00000296543.5	+	7	1051	c.728C>T	c.(727-729)gCt>gTt	p.A243V	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.A243V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	243					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTGGAAGATGCTGCAGATGTT	0.338																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(727-729)gCt>gTt		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							43.0	40.0	41.0					4																	140270652		1801	4080	5881	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140270652C>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.728C>T	4.37:g.140270652C>T	ENSP00000296543:p.Ala243Val					NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.A243V	p.A243V	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			7	1051	+			243					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.728C>T	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376935	0.95945	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.73152	-0.72;-0.72	5.4	5.4	0.78164	Tetratricopeptide-like helical (1);	0.110761	0.64402	D	0.000013	D	0.88157	0.6361	M	0.93462	3.42	0.80722	D	1	D	0.55605	0.972	D	0.65233	0.933	D	0.90398	0.4400	10	0.72032	D	0.01	-10.5981	19.4391	0.94811	0.0:1.0:0.0:0.0	.	243	Q9BXJ9	NAA15_HUMAN	V	243;117;243	ENSP00000296543:A243V;ENSP00000381920:A243V	ENSP00000296543:A243V	A	+	2	0	NAA15	140490102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.203000	0.77864	2.824000	0.97209	0.650000	0.86243	GCT		0.338	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		4	18	0	0	0	1	0	4	18				
ITGB4	3691	broad.mit.edu	37	17	73729698	73729698	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:73729698G>A	ENST00000200181.3	+	13	1769	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	ITGB4_ENST00000339591.3_Missense_Mutation_p.E528K|ITGB4_ENST00000579662.1_Missense_Mutation_p.E528K|ITGB4_ENST00000449880.2_Missense_Mutation_p.E528K|ITGB4_ENST00000450894.3_Missense_Mutation_p.E528K|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	528	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGCTACGGCGAAGGCCGCTA	0.632																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(1582-1584)Gaa>Aaa		integrin, beta 4							87.0	70.0	76.0					17																	73729698		2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73729698G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1582G>A	17.37:g.73729698G>A	ENSP00000200181:p.Glu528Lys					ITGB4_ENST00000450894.3_Missense_Mutation_p.E528K|ITGB4_ENST00000449880.2_Missense_Mutation_p.E528K|ITGB4_ENST00000579662.1_Missense_Mutation_p.E528K|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.E528K	p.E528K	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		13	1769	+	all_cancers(13;1.5e-07)		528			Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.1582G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278448	0.40294	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92545	-3.06;-3.06;-3.06	4.78	4.78	0.61160	.	0.221040	0.39083	N	0.001474	D	0.90950	0.7155	M	0.65677	2.01	0.46113	D	0.998874	B;B;P;P;P	0.50369	0.403;0.227;0.934;0.816;0.892	B;B;B;B;B	0.40506	0.047;0.065;0.331;0.085;0.178	D	0.92083	0.5674	10	0.54805	T	0.06	.	17.4028	0.87465	0.0:0.0:1.0:0.0	.	488;528;528;528;528	B4E3N0;P16144-5;P16144-3;A0AVL6;P16144	.;.;.;.;ITB4_HUMAN	K	444;528;528;528	ENSP00000200181:E528K;ENSP00000344079:E528K;ENSP00000400217:E528K	ENSP00000200181:E528K	E	+	1	0	ITGB4	71241293	1.000000	0.71417	0.625000	0.29200	0.510000	0.34073	5.545000	0.67237	2.202000	0.70862	0.555000	0.69702	GAA		0.632	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			24	90	0	0	0	1	0	24	90				
CRYGS	1427	broad.mit.edu	37	3	186256703	186256703	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:186256703G>C	ENST00000392499.2	-	4	658	c.319C>G	c.(319-321)Cag>Gag	p.Q107E	CRYGS_ENST00000307944.5_Missense_Mutation_p.Q107E	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	107	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|morphogenesis of an epithelium (GO:0002009)		structural constituent of eye lens (GO:0005212)			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		TCATACATCTGACCACTAAAA	0.433																																						ENST00000392499.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11						c.(319-321)Cag>Gag		crystallin, gamma S							76.0	72.0	74.0					3																	186256703		2203	4300	6503	SO:0001583	missense	1427						structural constituent of eye lens	g.chr3:186256703G>C		CCDS3275.1	3q27.3	2013-02-14			ENSG00000213139	ENSG00000213139			2417	protein-coding gene	gene with protein product	"""crystallin, gamma 8"""	123730		CRYG8			Standard	NM_017541		Approved		uc003fqe.3	P22914	OTTHUMG00000156615	ENST00000392499.2:c.319C>G	3.37:g.186256703G>C	ENSP00000376287:p.Gln107Glu					CRYGS_ENST00000307944.5_Missense_Mutation_p.Q107E	p.Q107E	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)	4	658	-	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		107			Beta/gamma crystallin 'Greek key' 3.		B2RAF8	Missense_Mutation	SNP	ENST00000392499.2	37	c.319C>G	CCDS3275.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165271	0.57476	.	.	ENSG00000213139	ENST00000392499;ENST00000307944	T;T	0.76186	-1.0;-1.0	5.95	5.06	0.68205	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.64402	U	0.000004	T	0.80470	0.4629	M	0.82132	2.575	0.54753	D	0.999988	P	0.38420	0.63	P	0.45071	0.468	T	0.82275	-0.0538	10	0.62326	D	0.03	.	14.0624	0.64808	0.0:0.0:0.8482:0.1518	.	107	P22914	CRBS_HUMAN	E	107	ENSP00000376287:Q107E;ENSP00000312099:Q107E	ENSP00000312099:Q107E	Q	-	1	0	CRYGS	187739397	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.960000	0.87893	1.461000	0.47929	0.655000	0.94253	CAG		0.433	CRYGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344784.1	NM_017541		7	35	0	0	0	1	0	7	35				
LAMC1	3915	broad.mit.edu	37	1	183091075	183091075	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr1:183091075G>C	ENST00000258341.4	+	12	2465	c.2208G>C	c.(2206-2208)gaG>gaC	p.E736D		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	736	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GTGATCCTGAGACAGGTGAGA	0.438																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(2206-2208)gaG>gaC		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						99.0	90.0	93.0					1																	183091075		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183091075G>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2208G>C	1.37:g.183091075G>C	ENSP00000258341:p.Glu736Asp						p.E736D	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			12	2465	+			736			Laminin EGF-like 6.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.2208G>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372483	0.42003	.	.	ENSG00000135862	ENST00000258341	T	0.62232	0.04	5.17	3.28	0.37604	EGF-like, laminin (3);	0.104952	0.64402	D	0.000005	T	0.44180	0.1281	N	0.25201	0.72	0.58432	D	0.999995	B	0.14012	0.009	B	0.18561	0.022	T	0.24297	-1.0164	10	0.21540	T	0.41	.	9.9999	0.41922	0.2203:0.0:0.7797:0.0	.	736	P11047	LAMC1_HUMAN	D	736	ENSP00000258341:E736D	ENSP00000258341:E736D	E	+	3	2	LAMC1	181357698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.630000	0.24553	1.173000	0.42796	0.655000	0.94253	GAG		0.438	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		14	29	0	0	0	1	0	14	29				
SHANK2	22941	broad.mit.edu	37	11	70331681	70331681	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:70331681C>T	ENST00000423696.2	-	15	3616	c.3580G>A	c.(3580-3582)Gat>Aat	p.D1194N	SHANK2_ENST00000449833.2_Missense_Mutation_p.D978N|SHANK2_ENST00000409161.1_Missense_Mutation_p.D977N|SHANK2_ENST00000338508.4_Missense_Mutation_p.D1574N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1194					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.D978H(1)|p.D1574H(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACAAAGCTATCTACATCTTCT	0.562																																						ENST00000338508.4																			2	Substitution - Missense(2)	p.D978H(1)|p.D1574H(1)	lung(2)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4720-4722)Gat>Aat		SH3 and multiple ankyrin repeat domains 2							101.0	101.0	101.0					11																	70331681		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331681C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3580G>A	11.37:g.70331681C>T	ENSP00000394536:p.Asp1194Asn					SHANK2_ENST00000409161.1_Missense_Mutation_p.D977N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1194N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D978N	p.D1574N			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4719	-			1194					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4720G>A		.	.	.	.	.	.	.	.	.	.	C	23.1	4.374891	0.82573	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	5.42	5.42	0.78866	.	0.182608	0.64402	D	0.000020	T	0.48223	0.1488	M	0.79258	2.445	0.80722	D	1	P;D;D	0.65815	0.944;0.995;0.992	P;P;D	0.64042	0.655;0.894;0.921	T	0.46205	-0.9208	10	0.51188	T	0.08	.	19.2305	0.93836	0.0:1.0:0.0:0.0	.	1194;1573;978	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	N	978;977;852;1574;1194;1212;1197	ENSP00000399423:D978N;ENSP00000386491:D977N;ENSP00000402944:D852N;ENSP00000345193:D1574N;ENSP00000394536:D1194N;ENSP00000294018:D1197N	ENSP00000294018:D1197N	D	-	1	0	SHANK2	70009329	1.000000	0.71417	0.070000	0.20053	0.994000	0.84299	5.494000	0.66905	2.549000	0.85964	0.655000	0.94253	GAT		0.562	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		129	1061	0	0	0	1	0	129	1061				
PHIP	55023	broad.mit.edu	37	6	79650558	79650558	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr6:79650558C>T	ENST00000275034.4	-	40	5485	c.5318G>A	c.(5317-5319)cGa>cAa	p.R1773Q	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1773					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGCTGTCCTTCGACCTTGATT	0.413																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(5317-5319)cGa>cAa		pleckstrin homology domain interacting protein							582.0	573.0	576.0					6																	79650558		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79650558C>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5318G>A	6.37:g.79650558C>T	ENSP00000275034:p.Arg1773Gln					PHIP_ENST00000479165.1_5'UTR	p.R1773Q	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	40	5485	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1773					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.5318G>A	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177898	0.78564	.	.	ENSG00000146247	ENST00000275034	T	0.74315	-0.83	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000004	T	0.76212	0.3956	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72625	0.978;0.978	T	0.72690	-0.4217	9	.	.	.	-9.1745	19.3095	0.94179	0.0:1.0:0.0:0.0	.	1773;1773	A7J992;Q8WWQ0	.;PHIP_HUMAN	Q	1773	ENSP00000275034:R1773Q	.	R	-	2	0	PHIP	79707277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.453000	0.80700	2.810000	0.96702	0.650000	0.86243	CGA		0.413	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			13	85	0	0	0	1	0	13	85				
ATP6V1F	9296	broad.mit.edu	37	7	128503037	128503037	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr7:128503037G>A	ENST00000249289.4	+	1	158	c.79G>A	c.(79-81)Gag>Aag	p.E27K	ATP6V1F_ENST00000492758.1_Missense_Mutation_p.E27K|RP11-309L24.2_ENST00000469965.1_RNA	NM_004231.3	NP_004222.2	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	27					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase activity, uncoupled (GO:0042624)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			lung(1)|ovary(1)|prostate(1)	3						CGGCATAGGGGAGCTTAACAA	0.587											OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000492758.1																			0				lung(1)|ovary(1)|prostate(1)	3						c.(79-81)Gag>Aag		ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F							96.0	84.0	88.0					7																	128503037		2203	4300	6503	SO:0001583	missense	9296				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr7:128503037G>A	D49400	CCDS5807.1, CCDS56511.1	7q32.1	2010-04-21	2002-08-29		ENSG00000128524	ENSG00000128524	3.6.3.14	"""ATPases / V-type"""	16832	protein-coding gene	gene with protein product		607160				8581736, 8621738	Standard	NM_004231		Approved	ATP6S14, VATF, Vma7	uc022all.1	Q16864	OTTHUMG00000158365	ENST00000249289.4:c.79G>A	7.37:g.128503037G>A	ENSP00000249289:p.Glu27Lys		OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1565	ATP6V1F_ENST00000249289.4_Missense_Mutation_p.E27K	p.E27K	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN			1	80	+			27					C9J2K4|Q6IBA8	Missense_Mutation	SNP	ENST00000249289.4	37	c.79G>A	CCDS5807.1	.	.	.	.	.	.	.	.	.	.	G	37	5.982703	0.97173	.	.	ENSG00000128524	ENST00000249289;ENST00000492758	T;T	0.45276	0.9;1.0	4.83	4.83	0.62350	.	0.050625	0.85682	D	0.000000	T	0.70307	0.3209	M	0.91300	3.195	0.80722	D	1	P	0.46706	0.883	P	0.61874	0.895	T	0.76296	-0.3011	10	0.49607	T	0.09	-24.6161	16.7528	0.85490	0.0:0.0:1.0:0.0	.	27	Q16864	VATF_HUMAN	K	27	ENSP00000249289:E27K;ENSP00000417378:E27K	ENSP00000249289:E27K	E	+	1	0	ATP6V1F	128290273	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.716000	0.91420	2.235000	0.73313	0.478000	0.44815	GAG		0.587	ATP6V1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350800.1	NM_004231		27	76	0	0	0	1	0	27	76				
PPFIA1	8500	broad.mit.edu	37	11	70200478	70200478	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr11:70200478C>T	ENST00000253925.7	+	17	2450	c.2235C>T	c.(2233-2235)tcC>tcT	p.S745S	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.S745S	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	745					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CGCCTTCCTCCCCGAGAGCCC	0.562																																						ENST00000253925.7																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(2233-2235)tcC>tcT		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1							72.0	62.0	65.0					11																	70200478		2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70200478C>T	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.2235C>T	11.37:g.70200478C>T						PPFIA1_ENST00000389547.3_Silent_p.S745S|AP000487.6_ENST00000528607.1_RNA	p.S745S	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		17	2450	+			745					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.2235C>T	CCDS31627.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.568|5.568	0.289660|0.289660	0.10567|0.10567	.|.	.|.	ENSG00000131626|ENSG00000131626	ENST00000528750|ENST00000530798	.|.	.|.	.|.	4.84|4.84	2.95|2.95	0.34219|0.34219	.|.	.|.	.|.	.|.	.|.	T|T	0.52306|0.52306	0.1726|0.1726	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.42916|0.42916	-0.9423|-0.9423	4|4	.|.	.|.	.|.	.|.	4.9673|4.9673	0.14096|0.14096	0.1876:0.6074:0.123:0.0821|0.1876:0.6074:0.123:0.0821	.|.	.|.	.|.	.|.	L|S	188|138	.|.	.|.	P|P	+|+	2|1	0|0	PPFIA1|PPFIA1	69878126|69878126	0.841000|0.841000	0.29509|0.29509	0.983000|0.983000	0.44433|0.44433	0.406000|0.406000	0.30931|0.30931	-0.051000|-0.051000	0.11885|0.11885	0.644000|0.644000	0.30656|0.30656	0.561000|0.561000	0.74099|0.74099	CCC|CCC		0.562	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		9	416	0	0	0	1	0	9	416				
CT55	54967	broad.mit.edu	37	X	134292163	134292163	+	Silent	SNP	T	T	C			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chrX:134292163T>C	ENST00000276241.6	-	4	724	c.498A>G	c.(496-498)gcA>gcG	p.A166A	CXorf48_ENST00000344129.2_Silent_p.A166A	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		166										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TCACAGAAGTTGCCTTGATGT	0.418																																						ENST00000344129.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(496-498)gcA>gcG		chromosome X open reading frame 48							118.0	105.0	109.0					X																	134292163		2203	4300	6503	SO:0001819	synonymous_variant	54967							g.chrX:134292163T>C																												ENST00000276241.6:c.498A>G	X.37:g.134292163T>C						CXorf48_ENST00000276241.6_Silent_p.A166A	p.A166A	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN			4	724	-	Acute lymphoblastic leukemia(192;0.000127)		166					Q9NWY8	Silent	SNP	ENST00000276241.6	37	c.498A>G	CCDS35400.1																																																																																				0.418	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			15	32	0	0	0	1	0	15	32				
KIAA0430	9665	broad.mit.edu	37	16	15692843	15692843	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:15692843C>T	ENST00000396368.3	-	26	5058	c.4852G>A	c.(4852-4854)Gac>Aac	p.D1618N	KIAA0430_ENST00000548025.1_Missense_Mutation_p.D1615N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.D1615N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.D1453N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.D1306N|KIAA0430_ENST00000551742.1_Missense_Mutation_p.D1618N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1618					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGGGAGTCGTCGGTCAGGCGG	0.652																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(4852-4854)Gac>Aac		KIAA0430							47.0	56.0	53.0					16																	15692843		2073	4181	6254	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15692843C>T	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.4852G>A	16.37:g.15692843C>T	ENSP00000379654:p.Asp1618Asn					KIAA0430_ENST00000551742.1_Missense_Mutation_p.D1618N|KIAA0430_ENST00000602337.1_Missense_Mutation_p.D1615N|KIAA0430_ENST00000540441.2_Missense_Mutation_p.D1453N|KIAA0430_ENST00000344181.3_Missense_Mutation_p.D1306N|KIAA0430_ENST00000548025.1_Missense_Mutation_p.D1615N	p.D1618N	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			26	5058	-			1617					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.4852G>A	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	3.408	-0.120791	0.06838	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.38	1.75	0.24633	.	1.286210	0.04479	N	0.377418	T	0.13713	0.0332	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.24977	-1.0145	9	0.02654	T	1	.	7.5437	0.27753	0.0:0.2704:0.0:0.7296	.	1617;1615;1614;1617	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	N	1618;1453;1558;1306;1615;1618;1484	.	ENSP00000315718:D1558N	D	-	1	0	KIAA0430	15600344	0.050000	0.20438	0.188000	0.23233	0.951000	0.60555	0.634000	0.24614	0.111000	0.17947	-0.345000	0.07892	GAC		0.652	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		14	47	0	0	0	1	0	14	47				
TTN	7273	broad.mit.edu	37	2	179433158	179433158	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr2:179433158C>T	ENST00000591111.1	-	276	73002	c.72778G>A	c.(72778-72780)Gat>Aat	p.D24260N	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23333N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16961N|TTN_ENST00000460472.2_Missense_Mutation_p.D16836N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D25901N|TTN_ENST00000342175.6_Missense_Mutation_p.D17028N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24260	Fibronectin type-III 76. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGACGTCATCAAATTTAACA	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(77701-77703)Gat>Aat		titin							122.0	107.0	112.0					2																	179433158		1882	4112	5994	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433158C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72778G>A	2.37:g.179433158C>T	ENSP00000465570:p.Asp24260Asn					TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24260N|TTN_ENST00000359218.5_Missense_Mutation_p.D16961N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D17028N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16836N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23333N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.D25901N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	77925	-			24260			Fibronectin type-III 88.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.77701G>A		.	.	.	.	.	.	.	.	.	.	C	16.25	3.070474	0.55539	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70780	0.3263	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.947;0.947;0.947;0.979	T	0.70483	-0.4859	9	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	16836;16961;17028;24260	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	23333;16836;17028;16961;16834	ENSP00000343764:D23333N;ENSP00000434586:D16836N;ENSP00000340554:D17028N;ENSP00000352154:D16961N	ENSP00000340554:D17028N	D	-	1	0	TTN	179141404	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.093000	0.71422	2.854000	0.98071	0.655000	0.94253	GAT		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	36	0	0	0	1	0	9	36				
HEG1	57493	broad.mit.edu	37	3	124746348	124746348	+	Missense_Mutation	SNP	G	G	A	rs200253057		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:124746348G>A	ENST00000311127.4	-	3	681	c.614C>T	c.(613-615)tCa>tTa	p.S205L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	205					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						AAGACTTTCTGAGGCTGAAAA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		21150	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.(613-615)tCa>tTa		heart development protein with EGF-like domains 1		G	LEU/SER	0,3690		0,0,1845	47.0	43.0	44.0		614	-8.7	0.0	3		44	1,8181		0,1,4090	no	missense	HEG1	NM_020733.1	145	0,1,5935	AA,AG,GG		0.0122,0.0,0.0084	benign	205/1382	124746348	1,11871	1845	4091	5936	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124746348G>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.614C>T	3.37:g.124746348G>A	ENSP00000311502:p.Ser205Leu						p.S205L	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN			3	681	-			205					Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.614C>T	CCDS46898.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	0.552	-0.848879	0.02651	0.0	1.22E-4	ENSG00000173706	ENST00000311127	D	0.86694	-2.16	5.07	-8.73	0.00841	.	.	.	.	.	T	0.59702	0.2213	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59573	-0.7429	9	0.02654	T	1	.	9.116	0.36758	0.1934:0.3461:0.4606:0.0	.	205;205	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	L	205	ENSP00000311502:S205L	ENSP00000311502:S205L	S	-	2	0	HEG1	126229038	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-1.108000	0.03313	-1.564000	0.01678	-0.806000	0.03193	TCA		0.423	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		12	29	0	0	0	1	0	12	29				
LAMA1	284217	broad.mit.edu	37	18	7012122	7012122	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr18:7012122G>A	ENST00000389658.3	-	24	3472	c.3379C>T	c.(3379-3381)Cct>Tct	p.P1127S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1127	Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTGCACTGAGGACCAAAGACA	0.517																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(3379-3381)Cct>Tct		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						42.0	42.0	42.0					18																	7012122		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7012122G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3379C>T	18.37:g.7012122G>A	ENSP00000374309:p.Pro1127Ser						p.P1127S	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			24	3472	-		Colorectal(10;0.172)	1127			Laminin EGF-like 13.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3379C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.331368	0.01298	.	.	ENSG00000101680	ENST00000389658	T	0.60920	0.15	5.9	5.9	0.94986	EGF-like, laminin (4);	0.356856	0.25272	N	0.031871	T	0.38983	0.1061	N	0.17901	0.54	0.09310	N	1	B	0.15141	0.012	B	0.15870	0.014	T	0.15435	-1.0437	10	0.18710	T	0.47	.	9.3597	0.38188	0.0716:0.0:0.7838:0.1446	.	1127	P25391	LAMA1_HUMAN	S	1127	ENSP00000374309:P1127S	ENSP00000374309:P1127S	P	-	1	0	LAMA1	7002122	0.000000	0.05858	0.811000	0.32455	0.010000	0.07245	0.693000	0.25497	2.783000	0.95769	0.637000	0.83480	CCT		0.517	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		19	21	0	0	0	1	0	19	21				
KIAA1524	57650	broad.mit.edu	37	3	108278852	108278852	+	Silent	SNP	C	C	T			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr3:108278852C>T	ENST00000295746.8	-	15	1927	c.1851G>A	c.(1849-1851)gtG>gtA	p.V617V	KIAA1524_ENST00000491772.1_Silent_p.V458V|KIAA1524_ENST00000487834.1_5'Flank	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	617					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGATATTCTCACATCACAAA	0.254																																						ENST00000295746.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1849-1851)gtG>gtA		KIAA1524							89.0	86.0	87.0					3																	108278852		2200	4299	6499	SO:0001819	synonymous_variant	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108278852C>T	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1851G>A	3.37:g.108278852C>T						KIAA1524_ENST00000491772.1_Silent_p.V458V	p.V617V	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN			15	1927	-			617					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Silent	SNP	ENST00000295746.8	37	c.1851G>A	CCDS33812.1																																																																																				0.254	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		5	35	0	0	0	1	0	5	35				
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1501-1506)caa>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148706_45148708delTGC	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1503_1505delGCA	13.37:g.45148715_45148717delTGC	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	1993_1995	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	507			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1503_1505delGCA	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		8	98						8	98	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138376	20138376	+	RNA	DEL	G	G	-	rs542749146|rs374461730|rs57620493		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:20138376delG	ENST00000548261.1	+	0	391																											ACAaaagaaagaaagaaagaa	0.388																																						ENST00000548261.1																			0																																																			0							g.chr14:20138376delG																													14.37:g.20138376delG														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			3	4						3	4	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		7	271						7	271	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183626	+	RNA	DEL	TT	TT	-	rs537660277|rs5818322|rs10617579	byFrequency	TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr16:81183625_81183626delTT	ENST00000525539.1	-	0	4553				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACtttttttttttt	0.465														3562	0.711262	0.6044	0.7637	5008	,	,		18089	0.625		0.831	False		,,,				2504	0.7843					ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183625_81183626delTT	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183635_81183636delTT						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	4553	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000525539.1	37																																																																																						0.465	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			3	3						3	3	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	440452							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			4	5						4	5	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-BB-A5HU-01A-11D-A28R-08	TCGA-BB-A5HU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7f0cb9f-e525-44b3-a405-8b211dd44b8a	6b63db96-19a4-4904-9cb2-b4f584de603d	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			2	4						2	4	---	---	---	---
