#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
SHC3	53358	broad.mit.edu	37	9	91727511	91727511	+	Missense_Mutation	SNP	T	T	C	rs200962607		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:91727511T>C	ENST00000375835.4	-	2	811	c.505A>G	c.(505-507)Atg>Gtg	p.M169V	RP11-82L18.2_ENST00000429700.1_RNA|SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	169	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGAGACCTCATTGAGCGCAGA	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		19619	0.001		0.0	False		,,,				2504	0.0					ENST00000375835.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						c.(505-507)Atg>Gtg		SHC (Src homology 2 domain containing) transforming protein 3							108.0	101.0	104.0					9																	91727511		2203	4299	6502	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91727511T>C	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.505A>G	9.37:g.91727511T>C	ENSP00000364995:p.Met169Val					SHC3_ENST00000375830.1_5'UTR	p.M169V	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN			2	811	-			169			PID.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.505A>G	CCDS6681.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	19.75	3.885554	0.72410	.	.	ENSG00000148082	ENST00000375835	T	0.14391	2.51	4.96	4.96	0.65561	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43433	0.1247	M	0.89840	3.065	0.80722	D	1	D	0.62365	0.991	D	0.81914	0.995	T	0.52064	-0.8625	10	0.87932	D	0	-18.8731	12.2544	0.54615	0.0:0.0:0.0:1.0	.	169	Q92529	SHC3_HUMAN	V	169	ENSP00000364995:M169V	ENSP00000364995:M169V	M	-	1	0	SHC3	90917331	1.000000	0.71417	0.970000	0.41538	0.983000	0.72400	5.743000	0.68655	2.099000	0.63709	0.482000	0.46254	ATG		0.413	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		32	61	0	0	0	1	0	32	61				
MYOM1	8736	broad.mit.edu	37	18	3188882	3188882	+	Missense_Mutation	SNP	C	C	T	rs200770047		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr18:3188882C>T	ENST00000356443.4	-	4	968	c.635G>A	c.(634-636)aGg>aAg	p.R212K	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K|MYOM1_ENST00000400569.3_Missense_Mutation_p.R212K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	212	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R212K(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTGGACTGCCTGGATGCCGT	0.517																																						ENST00000400569.3																			1	Substitution - Missense(1)	p.R212K(1)	endometrium(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(634-636)aGg>aAg		myomesin 1							260.0	242.0	248.0					18																	3188882		2044	4187	6231	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3188882C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.635G>A	18.37:g.3188882C>T	ENSP00000348821:p.Arg212Lys					MYOM1_ENST00000356443.4_Missense_Mutation_p.R212K|MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K	p.R212K			P52179	MYOM1_HUMAN			4	968	-			212			6 X 6 AA tandem repeats.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.635G>A	CCDS45824.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	2.966	-0.213546	0.06140	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.45668	1.03;1.04;0.89	3.23	0.752	0.18398	.	0.084010	0.41097	N	0.000942	T	0.14830	0.0358	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28808	-1.0032	10	0.05351	T	0.99	.	4.9448	0.13984	0.0:0.2653:0.0:0.7347	.	212;212	P52179-2;P52179	.;MYOM1_HUMAN	K	212	ENSP00000348821:R212K;ENSP00000383413:R212K;ENSP00000261606:R212K	ENSP00000261606:R212K	R	-	2	0	MYOM1	3178882	0.789000	0.28775	0.018000	0.16275	0.000000	0.00434	1.455000	0.35190	0.165000	0.19558	-1.097000	0.02148	AGG		0.517	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		3	61	0	0	0	1	0	3	61				
CIB1	10519	broad.mit.edu	37	15	90774627	90774627	+	Missense_Mutation	SNP	G	G	A	rs147405990	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr15:90774627G>A	ENST00000328649.6	-	4	469	c.308C>T	c.(307-309)aCg>aTg	p.T103M	GDPGP1_ENST00000558017.1_5'Flank	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	103	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to growth factor stimulus (GO:0071363)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to tumor necrosis factor (GO:0071356)|cytoplasmic microtubule organization (GO:0031122)|double-strand break repair (GO:0006302)|endomitotic cell cycle (GO:0007113)|extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|platelet formation (GO:0030220)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of male germ cell proliferation (GO:2000256)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell division (GO:0051302)|regulation of cell proliferation (GO:0042127)|response to ischemia (GO:0002931)|spermatid development (GO:0007286)|thrombopoietin-mediated signaling pathway (GO:0038163)	cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|protein anchor (GO:0043495)|Ras GTPase binding (GO:0017016)			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GATGTCTGGCGTGGCTGTGTC	0.572																																						ENST00000328649.6																			0				lung(1)|prostate(1)	2						c.(307-309)aCg>aTg		calcium and integrin binding 1 (calmyrin)		G	MET/THR	0,4398		0,0,2199	111.0	91.0	98.0		308	4.3	1.0	15	dbSNP_134	98	4,8592	3.7+/-12.6	0,4,4294	no	missense	CIB1	NM_006384.3	81	0,4,6493	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging	103/192	90774627	4,12990	2199	4298	6497	SO:0001583	missense	10519				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding	g.chr15:90774627G>A	U82226	CCDS10360.1, CCDS73781.1	15q25.3-q26	2013-01-10			ENSG00000185043	ENSG00000185043		"""EF-hand domain containing"""	16920	protein-coding gene	gene with protein product		602293				9030514, 10826701	Standard	NM_006384		Approved	SIP2-28, CALMYRIN, CIB, KIP	uc031qtq.1	Q99828	OTTHUMG00000149808	ENST00000328649.6:c.308C>T	15.37:g.90774627G>A	ENSP00000333873:p.Thr103Met						p.T103M	NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)		4	469	-	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		103			EF-hand 1.		B5BU40|H6WJF3|O00693|O00735|Q6IB49|Q96J54|Q99971	Missense_Mutation	SNP	ENST00000328649.6	37	c.308C>T	CCDS10360.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192836	0.78902	0.0	4.65E-4	ENSG00000185043	ENST00000328649	T	0.10192	2.9	4.35	4.35	0.52113	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.36744	0.0978	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36768	-0.9734	10	0.72032	D	0.01	-23.257	16.0477	0.80731	0.0:0.0:1.0:0.0	.	103	Q99828	CIB1_HUMAN	M	103	ENSP00000333873:T103M	ENSP00000333873:T103M	T	-	2	0	CIB1	88575631	1.000000	0.71417	0.995000	0.50966	0.770000	0.43624	8.942000	0.92970	2.254000	0.74563	0.563000	0.77884	ACG		0.572	CIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313419.1			18	7	0	0	0	1	0	18	7				
METTL14	57721	broad.mit.edu	37	4	119626790	119626790	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr4:119626790G>A	ENST00000388822.5	+	10	1047	c.880G>A	c.(880-882)Gga>Aga	p.G294R	METTL14_ENST00000506780.1_Missense_Mutation_p.G256R			Q9HCE5	MET14_HUMAN	methyltransferase like 14	294					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GGGGATCAAAGGAACTGTGAA	0.388																																						ENST00000388822.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						c.(880-882)Gga>Aga		methyltransferase like 14							159.0	156.0	157.0					4																	119626790		2203	4300	6503	SO:0001583	missense	57721					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	g.chr4:119626790G>A	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.880G>A	4.37:g.119626790G>A	ENSP00000373474:p.Gly294Arg					METTL14_ENST00000506780.1_Missense_Mutation_p.G256R	p.G294R			Q9HCE5	MTL14_HUMAN			10	1047	+			294					A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	c.880G>A	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	G	32	5.179006	0.94846	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.50277	0.75;0.75	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81597	-0.0860	10	0.87932	D	0	-12.0111	20.0938	0.97831	0.0:0.0:1.0:0.0	.	256;294	D6RBL4;Q9HCE5	.;MTL14_HUMAN	R	294;256	ENSP00000373474:G294R;ENSP00000424111:G256R	ENSP00000373474:G294R	G	+	1	0	METTL14	119846238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.757000	0.94681	0.585000	0.79938	GGA		0.388	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	NM_020961		10	56	0	0	0	1	0	10	56				
LATS2	26524	broad.mit.edu	37	13	21557518	21557518	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr13:21557518G>A	ENST00000382592.4	-	5	2732	c.2327C>T	c.(2326-2328)aCt>aTt	p.T776I	LATS2_ENST00000542899.1_Missense_Mutation_p.T776I	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AATGGCCAAAGTCAGCTCTGC	0.502																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(2326-2328)aCt>aTt		large tumor suppressor kinase 2							125.0	109.0	114.0					13																	21557518		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21557518G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.2327C>T	13.37:g.21557518G>A	ENSP00000372035:p.Thr776Ile					LATS2_ENST00000542899.1_Missense_Mutation_p.T776I	p.T776I	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	5	2732	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	776			Protein kinase.			Missense_Mutation	SNP	ENST00000382592.4	37	c.2327C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762413	0.49468	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.07021	3.23;3.23	5.05	5.05	0.67936	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.05686	0.0149	N	0.01109	-1.01	0.80722	D	1	P	0.42123	0.771	P	0.47528	0.549	T	0.60255	-0.7299	10	0.34782	T	0.22	.	18.6639	0.91481	0.0:0.0:1.0:0.0	.	776	Q9NRM7	LATS2_HUMAN	I	776	ENSP00000372035:T776I;ENSP00000441817:T776I	ENSP00000372035:T776I	T	-	2	0	LATS2	20455518	1.000000	0.71417	0.957000	0.39632	0.997000	0.91878	7.755000	0.85180	2.633000	0.89246	0.555000	0.69702	ACT		0.502	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			3	47	0	0	0	1	0	3	47				
ATRN	8455	broad.mit.edu	37	20	3615007	3615007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr20:3615007C>T	ENST00000262919.5	+	26	3981	c.3913C>T	c.(3913-3915)Caa>Taa	p.Q1305*		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1305					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GAAGATCAAACAAAGTTGTTG	0.443																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(3913-3915)Caa>Taa		attractin							136.0	121.0	126.0					20																	3615007		2203	4300	6503	SO:0001587	stop_gained	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3615007C>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3913C>T	20.37:g.3615007C>T	ENSP00000262919:p.Gln1305*						p.Q1305*	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN			26	3981	+			1305					A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Nonsense_Mutation	SNP	ENST00000262919.5	37	c.3913C>T	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	43	10.408364	0.99399	.	.	ENSG00000088812	ENST00000262919	.	.	.	5.81	5.81	0.92471	.	0.056059	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.7485	18.8499	0.92224	0.0:1.0:0.0:0.0	.	.	.	.	X	1305	.	ENSP00000262919:Q1305X	Q	+	1	0	ATRN	3563007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.468000	0.80943	2.736000	0.93811	0.655000	0.94253	CAA		0.443	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		17	46	0	0	0	1	0	17	46				
IGHG4	3503	broad.mit.edu	37	14	106091267	106091267	+	RNA	SNP	C	C	T	rs587753333		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr14:106091267C>T	ENST00000390543.2	-	0	626							P01861	IGHG4_HUMAN	immunoglobulin heavy constant gamma 4 (G4m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CGATGGAGGACGGGAGGCCTT	0.612													N|||	1	0.000199681	0.0008	0.0	5008	,	,		25778	0.0		0.0	False		,,,				2504	0.0					ENST00000390543.2																			0																				260.0	332.0	308.0					14																	106091267		2155	4271	6426			0							g.chr14:106091267C>T	K01316		14q32.33	2012-10-02			ENSG00000211892	ENSG00000211892		"""Immunoglobulins / IGH locus"""	5528	other	immunoglobulin gene		147130					Standard	NG_001019		Approved			P01861	OTTHUMG00000152481		14.37:g.106091267C>T														0	626	-									RNA	SNP	ENST00000390543.2	37																																																																																						0.612	IGHG4-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326390.1	NG_001019		128	362	0	0	0	1	0	128	362				
NR2F1	7025	broad.mit.edu	37	5	92929289	92929289	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:92929289C>T	ENST00000327111.3	+	3	2700	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	338					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGTCGGATGCGGCCCACATC	0.592																																						ENST00000327111.3																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1012-1014)gCg>gTg		nuclear receptor subfamily 2, group F, member 1							70.0	79.0	76.0					5																	92929289		2203	4300	6503	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92929289C>T	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1013C>T	5.37:g.92929289C>T	ENSP00000325819:p.Ala338Val					NR2F1_ENST00000506162.1_3'UTR	p.A338V	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	3	2700	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	338						Missense_Mutation	SNP	ENST00000327111.3	37	c.1013C>T	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	C	8.028	0.761144	0.15914	.	.	ENSG00000175745	ENST00000327111	D	0.96365	-3.99	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.360994	0.30219	N	0.010135	D	0.90013	0.6882	N	0.02842	-0.48	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	D	0.84686	0.0720	10	0.16420	T	0.52	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	338	P10589	COT1_HUMAN	V	338	ENSP00000325819:A338V	ENSP00000325819:A338V	A	+	2	0	NR2F1	92955045	0.951000	0.32395	1.000000	0.80357	0.986000	0.74619	2.198000	0.42705	2.941000	0.99782	0.655000	0.94253	GCG		0.592	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654		4	201	0	0	0	1	0	4	201				
LCT	3938	broad.mit.edu	37	2	136569943	136569943	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:136569943T>A	ENST00000264162.2	-	7	2301	c.2291A>T	c.(2290-2292)aAt>aTt	p.N764I	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	764	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ATCAAAGAGATTTTCACTTTC	0.433																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(2290-2292)aAt>aTt		lactase							106.0	108.0	107.0					2																	136569943		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136569943T>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.2291A>T	2.37:g.136569943T>A	ENSP00000264162:p.Asn764Ile						p.N764I	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	2301	-			764			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.2291A>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	T	7.046	0.563435	0.13498	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.33438	1.41	5.14	2.73	0.32206	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.492126	0.22976	N	0.053367	T	0.31327	0.0793	L	0.48362	1.52	0.09310	N	1	B	0.26708	0.157	B	0.37650	0.255	T	0.32428	-0.9907	10	0.54805	T	0.06	-6.0318	9.5089	0.39065	0.0:0.1457:0.0:0.8543	.	764	P09848	LPH_HUMAN	I	764;196	ENSP00000264162:N764I	ENSP00000264162:N764I	N	-	2	0	LCT	136286413	0.925000	0.31364	0.005000	0.12908	0.212000	0.24457	4.769000	0.62300	0.986000	0.38683	0.533000	0.62120	AAT		0.433	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		19	160	0	0	0	1	0	19	160				
HOMER1	9456	broad.mit.edu	37	5	78752755	78752755	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:78752755G>A	ENST00000334082.6	-	2	1534	c.92C>T	c.(91-93)gCa>gTa	p.A31V	HOMER1_ENST00000508576.1_Missense_Mutation_p.A31V|HOMER1_ENST00000282260.6_Missense_Mutation_p.A31V|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	31	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CACAGTAACTGCATGCTTGCT	0.423																																						ENST00000334082.6																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(91-93)gCa>gTa		homer homolog 1 (Drosophila)							222.0	212.0	215.0					5																	78752755		1912	4125	6037	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78752755G>A	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.92C>T	5.37:g.78752755G>A	ENSP00000334382:p.Ala31Val					HOMER1_ENST00000282260.6_Missense_Mutation_p.A31V|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.A31V	p.A31V	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	2	1534	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	31			WH1.		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.92C>T	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328874	0.81690	.	.	ENSG00000152413	ENST00000334082;ENST00000508576;ENST00000282260	D;D;D	0.98747	-5.11;-5.11;-5.11	5.72	5.72	0.89469	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	M	0.90595	3.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.973;0.996;0.995	D	0.99153	1.0859	10	0.87932	D	0	-11.8663	19.879	0.96888	0.0:0.0:1.0:0.0	.	31;31;31	Q86YM7-2;Q86YM7-3;Q86YM7	.;.;HOME1_HUMAN	V	31	ENSP00000334382:A31V;ENSP00000426651:A31V;ENSP00000282260:A31V	ENSP00000282260:A31V	A	-	2	0	HOMER1	78788511	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.062000	0.89475	2.695000	0.91970	0.655000	0.94253	GCA		0.423	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		4	206	0	0	0	1	0	4	206				
HIST1H2BB	3018	broad.mit.edu	37	6	26043725	26043725	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:26043725C>T	ENST00000357905.2	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGATGAGATGCCGGTGTCGGG	0.547																																						ENST00000357905.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(160-162)gGc>gAc		histone cluster 1, H2bb							194.0	188.0	190.0					6																	26043725		2203	4300	6503	SO:0001583	missense	3018				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26043725C>T	AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.161G>A	6.37:g.26043725C>T	ENSP00000350580:p.Gly54Asp						p.G54D	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN			1	160	-			54					Q4KN36	Missense_Mutation	SNP	ENST00000357905.2	37	c.161G>A	CCDS4575.1	.	.	.	.	.	.	.	.	.	.	c	11.23	1.578593	0.28180	.	.	ENSG00000196226	ENST00000357905	T	0.69435	-0.4	5.08	5.08	0.68730	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000016	D	0.82770	0.5109	M	0.93150	3.385	0.58432	D	0.99999	P	0.42161	0.772	P	0.56700	0.804	D	0.86555	0.1837	10	0.87932	D	0	.	17.8155	0.88632	0.0:1.0:0.0:0.0	.	54	P33778	H2B1B_HUMAN	D	54	ENSP00000350580:G54D	ENSP00000350580:G54D	G	-	2	0	HIST1H2BB	26151704	1.000000	0.71417	0.578000	0.28575	0.003000	0.03518	7.779000	0.85648	2.498000	0.84270	0.467000	0.42956	GGC		0.547	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062		5	234	0	0	0	1	0	5	234				
NDUFAF4	29078	broad.mit.edu	37	6	97344686	97344686	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:97344686A>T	ENST00000316149.7	-	2	253	c.174T>A	c.(172-174)gaT>gaA	p.D58E	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	58					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						GCAGCTTTTCATCTTTACGAG	0.333																																						ENST00000316149.7																			0				large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						c.(172-174)gaT>gaA		NADH dehydrogenase (ubiquinone) complex I, assembly factor 4							152.0	152.0	152.0					6																	97344686		2203	4300	6503	SO:0001583	missense	29078				mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding	g.chr6:97344686A>T	AF161474	CCDS5037.1	6q16.3	2012-10-12	2012-05-08	2009-03-18	ENSG00000123545	ENSG00000123545		"""Mitochondrial respiratory chain complex assembly factors"""	21034	protein-coding gene	gene with protein product		611776	"""chromosome 6 open reading frame 66"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4"""	C6orf66		11042152, 18179882	Standard	NM_014165		Approved	HSPC125, bA22L21.1, My013, HRPAP20	uc003pow.3	Q9P032	OTTHUMG00000015246	ENST00000316149.7:c.174T>A	6.37:g.97344686A>T	ENSP00000358272:p.Asp58Glu					NDUFAF4_ENST00000489477.1_5'UTR	p.D58E	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN			2	253	-			58					B2R4J5	Missense_Mutation	SNP	ENST00000316149.7	37	c.174T>A	CCDS5037.1	.	.	.	.	.	.	.	.	.	.	A	14.22	2.470737	0.43942	.	.	ENSG00000123545	ENST00000316149	D	0.85258	-1.96	3.93	2.76	0.32466	.	0.110120	0.64402	D	0.000010	D	0.88366	0.6417	M	0.88775	2.98	0.43527	D	0.995802	D	0.56746	0.977	P	0.61132	0.884	D	0.88117	0.2829	10	0.72032	D	0.01	.	7.5506	0.27796	0.8008:0.0:0.1992:0.0	.	58	Q9P032	NDUF4_HUMAN	E	58	ENSP00000358272:D58E	ENSP00000358272:D58E	D	-	3	2	NDUFAF4	97451407	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	0.673000	0.25203	0.676000	0.31285	0.455000	0.32223	GAT		0.333	NDUFAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041567.1	NM_014165		10	143	0	0	0	1	0	10	143				
SLC35A3	23443	broad.mit.edu	37	1	100477024	100477024	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr1:100477024G>A	ENST00000370155.3	+	5	961	c.569G>A	c.(568-570)gGg>gAg	p.G190E	SLC35A3_ENST00000370153.1_Missense_Mutation_p.G232E|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G190E|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_Missense_Mutation_p.G190E	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	190					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)	p.G190E(1)		biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		GGCTTTGCTGGGGTTTACTTT	0.338																																					Ovarian(7;298 356 944 2149 6911)	ENST00000465289.1																			1	Substitution - Missense(1)	p.G190E(1)	lung(1)	biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11						c.(568-570)gGg>gAg		solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3							71.0	73.0	73.0					1																	100477024		2203	4300	6503	SO:0001583	missense	23443				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	g.chr1:100477024G>A	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.569G>A	1.37:g.100477024G>A	ENSP00000359174:p.Gly190Glu					SLC35A3_ENST00000370153.1_Missense_Mutation_p.G232E|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370155.3_Missense_Mutation_p.G190E|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G190E	p.G190E	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)	5	961	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	190					A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	ENST00000370155.3	37	c.569G>A	CCDS762.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596862	0.86953	.	.	ENSG00000117620	ENST00000370155;ENST00000465289;ENST00000427993;ENST00000370153;ENST00000422078	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.47	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.88551	0.3116	10	0.87932	D	0	-24.9865	16.3773	0.83410	0.0:0.1319:0.8681:0.0	.	190;231;190	Q9BSB7;Q9Y2D2-2;Q9Y2D2	.;.;S35A3_HUMAN	E	190;190;190;232;190	ENSP00000359174:G190E;ENSP00000418527:G190E;ENSP00000414947:G190E;ENSP00000359172:G232E;ENSP00000401679:G190E	ENSP00000359172:G232E	G	+	2	0	SLC35A3	100249612	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	9.809000	0.99208	1.310000	0.45006	0.585000	0.79938	GGG		0.338	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000029783.1	NM_012243		12	25	0	0	0	1	0	12	25				
RTP3	83597	broad.mit.edu	37	3	46542360	46542360	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr3:46542360G>A	ENST00000296142.3	+	2	1242	c.670G>A	c.(670-672)Gtg>Atg	p.V224M		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	224					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CATTGTTATCGTGGTGATTGT	0.378																																						ENST00000296142.3																			0				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10						c.(670-672)Gtg>Atg		receptor (chemosensory) transporter protein 3							52.0	53.0	52.0					3																	46542360		2194	4285	6479	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542360G>A	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.670G>A	3.37:g.46542360G>A	ENSP00000296142:p.Val224Met						p.V224M	NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	1242	+			224					A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.670G>A	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	G	9.321	1.058059	0.19987	.	.	ENSG00000163825	ENST00000296142	T	0.21932	1.98	2.21	-2.07	0.07276	.	1.944740	0.03547	N	0.224821	T	0.18215	0.0437	N	0.24115	0.695	0.09310	N	1	D	0.64830	0.994	P	0.46543	0.52	T	0.28996	-1.0026	10	0.87932	D	0	-1.0098	7.3249	0.26549	0.5319:0.0:0.4681:0.0	.	224	Q9BQQ7	RTP3_HUMAN	M	224	ENSP00000296142:V224M	ENSP00000296142:V224M	V	+	1	0	RTP3	46517364	0.000000	0.05858	0.001000	0.08648	0.115000	0.19883	-0.670000	0.05256	-0.638000	0.05509	0.563000	0.77884	GTG		0.378	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		16	54	0	0	0	1	0	16	54				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	32	0	0	0	1	0	23	32				
XRCC5	7520	broad.mit.edu	37	2	216977761	216977761	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:216977761A>G	ENST00000392133.3	+	4	505	c.44A>G	c.(43-45)gAc>gGc	p.D15G	XRCC5_ENST00000392132.2_Missense_Mutation_p.D15G			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	15				MDV -> YSY (in Ref. 10; AA sequence). {ECO:0000305}.	brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CTGTGTATGGACGTGGGCTTT	0.408								Non-homologous end-joining																														ENST00000392133.3																			0				endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(43-45)gAc>gGc	Non-homologous end-joining	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)							173.0	167.0	169.0					2																	216977761		2203	4300	6503	SO:0001583	missense	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:216977761A>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.44A>G	2.37:g.216977761A>G	ENSP00000375978:p.Asp15Gly					XRCC5_ENST00000392132.2_Missense_Mutation_p.D15G	p.D15G			P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	4	505	+		Renal(323;0.0328)	15	MDV -> YSY (in Ref. 10; AA sequence).				A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	ENST00000392133.3	37	c.44A>G	CCDS2402.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.975282	0.74360	.	.	ENSG00000079246	ENST00000392133;ENST00000392132;ENST00000417391	T;T	0.66280	-0.2;-0.2	5.12	5.12	0.69794	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.79587	0.4471	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82778	-0.0289	10	0.87932	D	0	.	14.249	0.66007	1.0:0.0:0.0:0.0	.	15	P13010	XRCC5_HUMAN	G	15;15;2	ENSP00000375978:D15G;ENSP00000375977:D15G	ENSP00000375977:D15G	D	+	2	0	XRCC5	216686006	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	8.486000	0.90451	2.150000	0.67090	0.533000	0.62120	GAC		0.408	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		54	70	0	0	0	1	0	54	70				
COL4A4	1286	broad.mit.edu	37	2	227886828	227886828	+	Silent	SNP	C	C	T	rs75398993	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:227886828C>T	ENST00000396625.3	-	44	4359	c.4152G>A	c.(4150-4152)gcG>gcA	p.A1384A	COL4A4_ENST00000329662.7_Silent_p.A1381A	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1384	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCATGCCTGGCGCCCCAGGAA	0.567													C|||	11	0.00219649	0.0083	0.0	5008	,	,		13441	0.0		0.0	False		,,,				2504	0.0					ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(4150-4152)gcG>gcA		collagen, type IV, alpha 4		C		28,3740		0,28,1856	128.0	135.0	133.0		4152	-7.2	0.7	2	dbSNP_132	133	0,8200		0,0,4100	no	coding-synonymous	COL4A4	NM_000092.4		0,28,5956	TT,TC,CC		0.0,0.7431,0.234		1384/1691	227886828	28,11940	1884	4100	5984	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227886828C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4152G>A	2.37:g.227886828C>T						COL4A4_ENST00000329662.7_Silent_p.A1381A	p.A1384A	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	44	4359	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1384			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.4152G>A	CCDS42828.1																																																																																				0.567	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		79	168	0	0	0	1	0	79	168				
AKAP2	11217	broad.mit.edu	37	9	112918685	112918685	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:112918685G>A	ENST00000259318.7	+	3	2596	c.2389G>A	c.(2389-2391)Gga>Aga	p.G797R	AKAP2_ENST00000374525.1_Missense_Mutation_p.G886R|AKAP2_ENST00000555236.1_Missense_Mutation_p.G1028R|AKAP2_ENST00000482335.1_Intron|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.G1028R|AKAP2_ENST00000434623.2_Missense_Mutation_p.G886R|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G1028R|AKAP2_ENST00000510514.5_Missense_Mutation_p.G1028R	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	797										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGAGGCTGCCGGAACCCAGCG	0.507																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(3082-3084)Gga>Aga									68.0	74.0	72.0					9																	112918685		2203	4300	6503	SO:0001583	missense	0						enzyme binding	g.chr9:112918685G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2389G>A	9.37:g.112918685G>A	ENSP00000259318:p.Gly797Arg					AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000374525.1_Missense_Mutation_p.G886R|AKAP2_ENST00000510514.5_Missense_Mutation_p.G1028R|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G1028R|AKAP2_ENST00000434623.2_Missense_Mutation_p.G886R|AKAP2_ENST00000555236.1_Missense_Mutation_p.G1028R|AKAP2_ENST00000259318.7_Missense_Mutation_p.G797R	p.G1028R	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			9	3262	+			797					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.3082G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655273	0.88056	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000259318	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.48	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	L	0.56769	1.78	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.999;1.0;1.0	T	0.53507	-0.8429	10	0.54805	T	0.06	-23.9329	15.0969	0.72242	0.0:0.0:0.8574:0.1426	.	797;886;887;1028;1028	Q9Y2D5;Q9Y2D5-7;B1ALY1;Q9Y2D5-6;Q9Y2D5-4	AKAP2_HUMAN;.;.;.;.	R	1028;1028;1028;1028;886;886;797	ENSP00000363654:G1028R;ENSP00000305861:G1028R;ENSP00000451476:G1028R;ENSP00000421522:G1028R;ENSP00000404782:G886R;ENSP00000363649:G886R;ENSP00000259318:G797R	ENSP00000259318:G797R	G	+	1	0	PALM2-AKAP2;AKAP2	111958506	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.051000	0.93849	1.430000	0.47334	0.655000	0.94253	GGA		0.507	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		13	59	0	0	0	1	0	13	59				
VWA3A	146177	broad.mit.edu	37	16	22161160	22161160	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr16:22161160G>A	ENST00000389398.5	+	29	3133	c.3037G>A	c.(3037-3039)Gtg>Atg	p.V1013M	VWA3A_ENST00000563755.1_Missense_Mutation_p.V115M|VWA3A_ENST00000389397.4_Missense_Mutation_p.V115M	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1013	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGACACGCTGGTGGAGACCAC	0.557																																						ENST00000389397.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(343-345)Gtg>Atg		von Willebrand factor A domain containing 3A							34.0	35.0	34.0					16																	22161160		1992	4153	6145	SO:0001583	missense	146177					extracellular region		g.chr16:22161160G>A	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3037G>A	16.37:g.22161160G>A	ENSP00000374049:p.Val1013Met					VWA3A_ENST00000563755.1_Missense_Mutation_p.V115M|VWA3A_ENST00000389398.5_Missense_Mutation_p.V1013M	p.V115M			A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	30	3205	+			1013					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.343G>A	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.038742	0.35989	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.08008	3.14;3.14	5.57	4.62	0.57501	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	T	0.18593	0.0446	M	0.84156	2.68	0.45239	D	0.998242	B;P	0.38597	0.211;0.639	B;B	0.43701	0.428;0.319	T	0.01027	-1.1476	10	0.45353	T	0.12	.	12.4507	0.55675	0.0816:0.0:0.9184:0.0	.	1013;115	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	M	1013;115;636	ENSP00000374049:V1013M;ENSP00000374048:V115M	ENSP00000299840:V636M	V	+	1	0	VWA3A	22068661	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	5.327000	0.65881	1.348000	0.45733	-0.137000	0.14449	GTG		0.557	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			5	14	0	0	0	1	0	5	14				
SLC12A7	10723	broad.mit.edu	37	5	1057736	1057736	+	Missense_Mutation	SNP	G	G	A	rs199620140	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:1057736G>A	ENST00000264930.5	-	22	2919	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	959					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGTGTGGGACGCGGTGTTCCT	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		12731	0.001		0.001	False		,,,				2504	0.0					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(2875-2877)gCg>gTg		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)	G	VAL/ALA	0,4406		0,0,2203	90.0	92.0	91.0		2876	3.2	0.0	5		91	1,8597	1.2+/-3.3	0,1,4298	no	missense	SLC12A7	NM_006598.2	64	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	959/1084	1057736	1,13003	2203	4299	6502	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1057736G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2876C>T	5.37:g.1057736G>A	ENSP00000264930:p.Ala959Val						p.A959V	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		22	2919	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		959					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2876C>T	CCDS34129.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.903	1.207353	0.22205	0.0	1.16E-4	ENSG00000113504	ENST00000264930	T	0.44083	0.93	3.23	3.23	0.37069	.	0.471167	0.21963	U	0.066570	T	0.39009	0.1062	M	0.63428	1.95	0.48236	D	0.999619	B	0.25048	0.117	B	0.17433	0.018	T	0.32587	-0.9901	10	0.32370	T	0.25	.	13.3398	0.60538	0.0:0.0:1.0:0.0	.	959	Q9Y666	S12A7_HUMAN	V	959	ENSP00000264930:A959V	ENSP00000264930:A959V	A	-	2	0	SLC12A7	1110736	0.977000	0.34250	0.013000	0.15412	0.023000	0.10783	6.562000	0.73960	1.532000	0.49169	0.313000	0.20887	GCG		0.662	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		17	175	0	0	0	1	0	17	175				
CSAG4	100130935	broad.mit.edu	37	X	151896231	151896231	+	RNA	SNP	A	A	G			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chrX:151896231A>G	ENST00000361201.4	-	0	499					NR_073432.1				CSAG family, member 4 (pseudogene)											endometrium(2)|kidney(2)|lung(1)	5						GAGTGGCTGGATAGTGTTGGC	0.517																																						ENST00000361201.4																			0				endometrium(2)|kidney(2)|lung(1)	5																																														0							g.chrX:151896231A>G	BC013171		Xq28	2014-01-21	2012-04-19		ENSG00000242599	ENSG00000242599			20923	pseudogene	pseudogene			"""CSAG family, member 4"""				Standard	NR_073432		Approved				OTTHUMG00000022646		X.37:g.151896231A>G								NR_073432.1						0	499	-									RNA	SNP	ENST00000361201.4	37																																																																																						0.517	CSAG4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058758.2			3	12	0	0	0	1	0	3	12				
ZFP36L1	677	broad.mit.edu	37	14	69256928	69256928	+	Silent	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr14:69256928G>A	ENST00000439696.2	-	2	640	c.339C>T	c.(337-339)agC>agT	p.S113S	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.S113S	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	113					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCTTGTAGCGGCTGGAGTTGA	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(337-339)agC>agT		ZFP36 ring finger protein-like 1							63.0	64.0	64.0					14																	69256928		2203	4300	6503	SO:0001819	synonymous_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256928G>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.339C>T	14.37:g.69256928G>A			OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000336440.3_Silent_p.S113S|ZFP36L1_ENST00000555997.1_3'UTR	p.S113S	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	640	-			113					Q13851	Silent	SNP	ENST00000439696.2	37	c.339C>T	CCDS9791.1																																																																																				0.672	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			4	170	0	0	0	1	0	4	170				
CRHR2	1395	broad.mit.edu	37	7	30693212	30693212	+	Missense_Mutation	SNP	C	C	T	rs199502493	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr7:30693212C>T	ENST00000471646.1	-	12	1517	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.R353H|CRHR2_ENST00000348438.4_Missense_Mutation_p.R394H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	367					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.R367H(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACGGCTGAGCGCACCTGTGG	0.642													C|||	3	0.000599042	0.0	0.0014	5008	,	,		16499	0.002		0.0	False		,,,				2504	0.0					ENST00000471646.1																			1	Substitution - Missense(1)	p.R367H(1)	stomach(1)	breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1099-1101)cGc>cAc		corticotropin releasing hormone receptor 2							93.0	81.0	85.0					7																	30693212		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30693212C>T		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.1100G>A	7.37:g.30693212C>T	ENSP00000418722:p.Arg367His					CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000348438.4_Missense_Mutation_p.R394H|CRHR2_ENST00000341843.4_Missense_Mutation_p.R353H	p.R367H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			12	1517	-			367					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.1100G>A	CCDS5429.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	C	19.07	3.756228	0.69648	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843	T;T;T	0.58358	0.34;0.34;0.34	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.73651	0.3614	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	P;D;D;P	0.72982	0.87;0.979;0.969;0.87	T	0.78994	-0.1984	10	0.87932	D	0	.	15.1361	0.72566	0.0:1.0:0.0:0.0	.	366;394;353;367	B3SXT0;Q13324-2;Q13324-3;Q13324	.;.;.;CRFR2_HUMAN	H	367;394;353	ENSP00000418722:R367H;ENSP00000340943:R394H;ENSP00000344304:R353H	ENSP00000344304:R353H	R	-	2	0	CRHR2	30659737	1.000000	0.71417	0.973000	0.42090	0.013000	0.08279	7.753000	0.85153	2.236000	0.73375	0.563000	0.77884	CGC		0.642	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			11	54	0	0	0	1	0	11	54				
SVEP1	79987	broad.mit.edu	37	9	113238566	113238566	+	Silent	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:113238566G>A	ENST00000401783.2	-	14	2853	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	SVEP1_ENST00000374461.1_Silent_p.D816D|SVEP1_ENST00000302728.8_Silent_p.D839D|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.D816D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	839					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGTCAATGTCCTCTGCAT	0.373																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(2515-2517)gaC>gaT		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							129.0	127.0	128.0					9																	113238566		1866	4104	5970	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113238566G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2517C>T	9.37:g.113238566G>A						SVEP1_ENST00000374461.1_Silent_p.D816D|SVEP1_ENST00000374469.1_Silent_p.D816D|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.D839D	p.D839D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			14	2853	-			839					Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.2517C>T	CCDS48004.1																																																																																				0.373	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				20	101	0	0	0	1	0	20	101				
FAM172A	83989	broad.mit.edu	37	5	93386527	93386527	+	Nonsense_Mutation	SNP	A	A	C			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:93386527A>C	ENST00000395965.3	-	4	360	c.218T>G	c.(217-219)tTa>tGa	p.L73*	FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.L27*|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.L27*	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	73						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TATGTGTCTTAACTGTCCCTC	0.328																																						ENST00000395965.3																			0				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(217-219)tTa>tGa		family with sequence similarity 172, member A							125.0	127.0	126.0					5																	93386527		2203	4300	6503	SO:0001587	stop_gained	83989					endoplasmic reticulum|extracellular region		g.chr5:93386527A>C		CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.218T>G	5.37:g.93386527A>C	ENSP00000379294:p.Leu73*					FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.L27*|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.L27*	p.L73*	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN			4	360	-			73					B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Nonsense_Mutation	SNP	ENST00000395965.3	37	c.218T>G	CCDS4069.1	.	.	.	.	.	.	.	.	.	.	A	38	6.711079	0.97780	.	.	ENSG00000113391	ENST00000395965;ENST00000505869;ENST00000509163	.	.	.	5.35	5.35	0.76521	.	0.074230	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.1575	14.6179	0.68562	1.0:0.0:0.0:0.0	.	.	.	.	X	73;27;27	.	ENSP00000379294:L73X	L	-	2	0	FAM172A	93412283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.368000	0.90115	2.152000	0.67230	0.533000	0.62120	TTA		0.328	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254100.3	NM_032042		62	72	0	0	0	1	0	62	72				
CIC	23152	broad.mit.edu	37	19	42791869	42791869	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr19:42791869T>C	ENST00000575354.2	+	5	795	c.755T>C	c.(754-756)cTg>cCg	p.L252P	CIC_ENST00000572681.2_Missense_Mutation_p.L1161P|CIC_ENST00000160740.3_Missense_Mutation_p.L252P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	252					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)				TACCACGACCTGGCCTTCCAG	0.617			"""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.(3481-3483)cTg>cCg		capicua transcriptional repressor							76.0	67.0	70.0					19																	42791869		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791869T>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.755T>C	19.37:g.42791869T>C	ENSP00000458663:p.Leu252Pro					CIC_ENST00000160740.3_Missense_Mutation_p.L252P|CIC_ENST00000575354.2_Missense_Mutation_p.L252P	p.L1161P			Q96RK0	CIC_HUMAN			6	3550	+		Prostate(69;0.00682)	252			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3482T>C	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.483492	0.44147	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.84844	0.5562	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88142	0.2845	8	0.87932	D	0	-7.7221	11.626	0.51145	0.0:0.0:0.0:1.0	.	252	Q96RK0	CIC_HUMAN	P	252	.	ENSP00000160740:L252P	L	+	2	0	CIC	47483709	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.364000	0.79526	1.853000	0.53794	0.454000	0.30748	CTG		0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	16	0	0	0	1	0	18	16				
MID2	11043	broad.mit.edu	37	X	107084062	107084062	+	Missense_Mutation	SNP	G	G	A	rs373511106		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chrX:107084062G>A	ENST00000262843.6	+	2	715	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MID2_ENST00000443968.2_Missense_Mutation_p.R56H	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	56					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.R36H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTGCCCATCGCATTTTGGTA	0.517																																						ENST00000262843.6																			1	Substitution - Missense(1)	p.R36H(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(166-168)cGc>cAc		midline 2		G	HIS/ARG,HIS/ARG	0,3835		0,0,0,1632,571	170.0	150.0	157.0		167,167	5.7	1.0	X		157	1,6727		0,0,1,2428,1871	no	missense,missense	MID2	NM_012216.3,NM_052817.2	29,29	0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095	probably-damaging,probably-damaging	56/736,56/706	107084062	1,10562	2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084062G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.167G>A	X.37:g.107084062G>A	ENSP00000262843:p.Arg56His					MID2_ENST00000443968.2_Missense_Mutation_p.R56H	p.R56H	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			2	715	+			56					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.167G>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204492	0.79127	0.0	1.49E-4	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	T;T;T	0.79749	-1.3;-1.3;-1.3	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.058171	0.64402	D	0.000001	D	0.84502	0.5486	L	0.31752	0.955	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.949	D	0.86026	0.1510	10	0.66056	D	0.02	.	16.1582	0.81680	0.0:0.0:1.0:0.0	.	56;56	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	H	36;56;56	ENSP00000410730:R36H;ENSP00000262843:R56H;ENSP00000413976:R56H	ENSP00000262843:R56H	R	+	2	0	MID2	106970718	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.962000	0.87912	2.506000	0.84524	0.600000	0.82982	CGC		0.517	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		77	62	0	0	0	1	0	77	62				
PCDHGB4	8641	broad.mit.edu	37	5	140769051	140769051	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:140769051G>A	ENST00000519479.1	+	1	1600	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	534	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCCCGCGACCAGGGCTC	0.682																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1600-1602)Gac>Aac									32.0	38.0	36.0					5																	140769051		2044	4200	6244	SO:0001583	missense	0							g.chr5:140769051G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1600G>A	5.37:g.140769051G>A	ENSP00000428288:p.Asp534Asn					PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.D534N	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1600	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1600G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	36	5.665296	0.96745	.	.	ENSG00000253953	ENST00000519479	T	0.79940	-1.32	5.05	5.05	0.67936	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.93700	0.7987	H	0.97291	3.975	0.42048	D	0.991108	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.96029	0.9015	9	0.87932	D	0	.	18.4161	0.90571	0.0:0.0:1.0:0.0	.	534;534	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	N	534	ENSP00000428288:D534N	ENSP00000428288:D534N	D	+	1	0	PCDHGB4	140749235	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.313000	0.96297	2.503000	0.84419	0.563000	0.77884	GAC		0.682	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		12	31	0	0	0	1	0	12	31				
TOX	9760	broad.mit.edu	37	8	59750659	59750659	+	Nonsense_Mutation	SNP	A	A	C			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr8:59750659A>C	ENST00000361421.1	-	5	1125	c.905T>G	c.(904-906)tTa>tGa	p.L302*		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	302						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTCTTCTCCTAAACCGTCCCA	0.483																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(904-906)tTa>tGa		thymocyte selection-associated high mobility group box							101.0	100.0	100.0					8																	59750659		2203	4300	6503	SO:0001587	stop_gained	9760					nucleus	DNA binding	g.chr8:59750659A>C		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.905T>G	8.37:g.59750659A>C	ENSP00000354842:p.Leu302*						p.L302*	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	1125	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	302					Q96AV5	Nonsense_Mutation	SNP	ENST00000361421.1	37	c.905T>G	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	A	39	7.519028	0.98332	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	.	.	.	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.769	0.78149	1.0:0.0:0.0:0.0	.	.	.	.	X	302;60	.	.	L	-	2	0	TOX	59913213	1.000000	0.71417	0.987000	0.45799	0.885000	0.51271	9.339000	0.96797	2.118000	0.64928	0.482000	0.46254	TTA		0.483	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		43	45	0	0	0	1	0	43	45				
FMN2	56776	broad.mit.edu	37	1	240371406	240371406	+	Silent	SNP	T	T	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr1:240371406T>A	ENST00000319653.9	+	5	3524	c.3294T>A	c.(3292-3294)ccT>ccA	p.P1098P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1098	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCTCCGCCCCCTC	0.731																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3292-3294)ccT>ccA		formin 2							6.0	8.0	7.0					1																	240371406		1990	4044	6034	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371406T>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3294T>A	1.37:g.240371406T>A							p.P1098P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3524	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1098			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3294T>A	CCDS31069.2																																																																																				0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	19	0	0	0	1	0	5	19				
MAP1A	4130	broad.mit.edu	37	15	43819305	43819305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr15:43819305G>A	ENST00000300231.5	+	4	6084	c.5634G>A	c.(5632-5634)tgG>tgA	p.W1878*	MAP1A_ENST00000382031.1_Nonsense_Mutation_p.W2116*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.W1878*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1878					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCTTCTCTTGGGGCACAGCCG	0.662																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(6346-6348)tgG>tgA		microtubule-associated protein 1A	Estramustine(DB01196)						37.0	43.0	41.0					15																	43819305		1957	4161	6118	SO:0001587	stop_gained	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43819305G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5634G>A	15.37:g.43819305G>A	ENSP00000300231:p.Trp1878*					MAP1A_ENST00000300231.5_Nonsense_Mutation_p.W1878*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.W1878*	p.W2116*			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	6379	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1878					O95643|Q12973|Q15882|Q9UJT4	Nonsense_Mutation	SNP	ENST00000300231.5	37	c.6348G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	47	13.318538	0.99734	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	.	.	.	4.88	4.88	0.63580	.	0.000000	0.31834	N	0.006983	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9862	9.048	0.36358	0.0976:0.0:0.9024:0.0	.	.	.	.	X	2116;1878;1878	.	ENSP00000300231:W1878X	W	+	3	0	MAP1A	41606597	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	3.593000	0.54001	2.537000	0.85549	0.563000	0.77884	TGG		0.662	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	26	0	0	0	1	0	4	26				
EPHB4	2050	broad.mit.edu	37	7	100421309	100421309	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr7:100421309G>T	ENST00000358173.3	-	3	836	c.368C>A	c.(367-369)gCc>gAc	p.A123D	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.A123D|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	123	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAGGGCCGTGGCCGTGTCCGC	0.647																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(367-369)gCc>gAc		EPH receptor B4							54.0	53.0	53.0					7																	100421309		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100421309G>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.368C>A	7.37:g.100421309G>T	ENSP00000350896:p.Ala123Asp					EPHB4_ENST00000360620.3_Missense_Mutation_p.A123D|EPHB4_ENST00000477446.1_5'UTR	p.A123D	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			3	836	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		123					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.368C>A	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	g	16.60	3.168074	0.57476	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.10382	2.88;2.88	5.23	5.23	0.72850	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.53938	D	0.000052	T	0.27765	0.0683	L	0.48260	1.515	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.925;0.999;0.999;1.0	T	0.00601	-1.1650	10	0.72032	D	0.01	.	16.2845	0.82712	0.0:0.0:1.0:0.0	.	123;123;123;123;123	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	D	123	ENSP00000353833:A123D;ENSP00000350896:A123D	ENSP00000350896:A123D	A	-	2	0	EPHB4	100259245	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	7.887000	0.87295	2.452000	0.82932	0.556000	0.70494	GCC		0.647	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		28	37	1	0	2.61193e-14	1	2.67267e-14	28	37				
CPAMD8	27151	broad.mit.edu	37	19	17015067	17015067	+	Missense_Mutation	SNP	C	C	T	rs565062781		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr19:17015067C>T	ENST00000443236.1	-	32	4392	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1407						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGTGCATTTCGCTGCTGGGA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		12748	0.0		0.0	False		,,,				2504	0.001					ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4360-4362)cGa>cAa		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							34.0	36.0	35.0					19																	17015067		2002	4156	6158	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17015067C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4361G>A	19.37:g.17015067C>T	ENSP00000402505:p.Arg1454Gln						p.R1454Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			32	4392	-			1407					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4361G>A	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.53|14.53	2.563704|2.563704	0.45694|0.45694	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000443236|ENST00000291440	.|.	.|.	.|.	3.02|3.02	0.786|0.786	0.18590|0.18590	.|Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.53867|0.53867	0.1823|0.1823	L|L	0.45051|0.45051	1.395|1.395	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|P	.|0.57468	.|0.821	T|T	0.51553|0.51553	-0.8691|-0.8691	5|9	.|0.72032	.|D	.|0.01	.|.	8.2466|8.2466	0.31693|0.31693	0.0:0.7964:0.0:0.2036|0.0:0.7964:0.0:0.2036	.|.	.|1407	.|Q8IZJ3	.|CPMD8_HUMAN	K|Q	1465|1454	.|.	.|ENSP00000291440:R1454Q	E|R	-|-	1|2	0|0	CPAMD8|CPAMD8	16876067|16876067	1.000000|1.000000	0.71417|0.71417	0.342000|0.342000	0.25602|0.25602	0.575000|0.575000	0.36095|0.36095	3.513000|3.513000	0.53414|0.53414	-0.074000|-0.074000	0.12820|0.12820	0.456000|0.456000	0.33151|0.33151	GAA|CGA		0.652	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		5	22	0	0	0	1	0	5	22				
UTRN	7402	broad.mit.edu	37	6	144835835	144835835	+	Missense_Mutation	SNP	G	G	A	rs115466543	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:144835835G>A	ENST00000367545.3	+	36	5123	c.5123G>A	c.(5122-5124)cGc>cAc	p.R1708H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1708	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAATGTCCGCGATCAAGCC	0.413													G|||	6	0.00119808	0.0	0.0	5008	,	,		16579	0.006		0.0	False		,,,				2504	0.0					ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(5122-5124)cGc>cAc		utrophin							141.0	143.0	142.0					6																	144835835		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144835835G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5123G>A	6.37:g.144835835G>A	ENSP00000356515:p.Arg1708His						p.R1708H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	36	5123	+		Ovarian(120;0.218)	1708			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.5123G>A	CCDS34547.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	16.30	3.085381	0.55861	.	.	ENSG00000152818	ENST00000367545	T	0.50277	0.75	5.34	4.47	0.54385	.	0.148977	0.31156	N	0.008159	T	0.28532	0.0706	L	0.49126	1.545	0.80722	D	1	B	0.18310	0.027	B	0.19946	0.027	T	0.14783	-1.0460	10	0.42905	T	0.14	.	14.2611	0.66085	0.0719:0.0:0.9281:0.0	.	1708	P46939	UTRO_HUMAN	H	1708	ENSP00000356515:R1708H	ENSP00000356515:R1708H	R	+	2	0	UTRN	144877528	1.000000	0.71417	0.771000	0.31576	0.993000	0.82548	4.245000	0.58734	1.398000	0.46701	0.655000	0.94253	CGC		0.413	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			29	156	0	0	0	1	0	29	156				
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			0							g.chr3:195400918_195400919insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	10						6	10	---	---	---	---
HIST1H1E	3008	broad.mit.edu	37	6	26156983	26156984	+	Frame_Shift_Del	DEL	AG	AG	-	rs200272831		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:26156983_26156984delAG	ENST00000304218.3	+	1	425_426	c.365_366delAG	c.(364-366)aagfs	p.K122fs	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	122					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGGCTAAAAAGGCAGGCGCGG	0.639																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(364-366)afs		histone cluster 1, H1e																																				SO:0001589	frameshift_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156983_26156984delAG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.365_366delAG	6.37:g.26156983_26156984delAG	ENSP00000307705:p.Lys122fs						p.K122fs	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	425_426	+			122					Q4VB25	Frame_Shift_Del	DEL	ENST00000304218.3	37	c.365_366delAG	CCDS4586.1																																																																																				0.639	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		7	45						7	45	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs147271628|rs34427285|rs35266724|rs34222232	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.69														955	0.190695	0.1808	0.3184	5008	,	,		11493	0.0565		0.2356	False		,,,				2504	0.2055					ENST00000298532.2																			2	Deletion - In frame(2)	p.S542delS(2)	prostate(1)|central_nervous_system(1)	biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(1624-1626)del		small nuclear RNA activating complex, polypeptide 4, 190kDa																																				SO:0001651	inframe_deletion	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139277995_139277997delGCT	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1624_1626delAGC	9.37:g.139278004_139278006delGCT	ENSP00000298532:p.Ser542del						p.S542del	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	15	1992_1994	-		Myeloproliferative disorder(178;0.0511)	542						In_Frame_Del	DEL	ENST00000298532.2	37	c.1624_1626delAGC	CCDS6998.1																																																																																				0.690	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		6	7						6	7	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29337651	29337652	+	lincRNA	INS	-	-	CAGAG	rs140530121|rs375360483	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr16:29337651_29337652insCAGAG	ENST00000398878.3	+	0	724							Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		CCCCGTTCACACCTGTTTCCTC	0.599														198	0.0395367	0.0507	0.0259	5008	,	,		15880	0.001		0.0527	False		,,,				2504	0.0603					ENST00000398878.3																			0																																																			0							g.chr16:29337651_29337652insCAGAG	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29337651_29337652insCAGAG														0	724	+									RNA	INS	ENST00000398878.3	37																																																																																						0.599	SNX29P2-202	KNOWN	basic	lincRNA	lincRNA		NR_002939		6	11						6	11	---	---	---	---
WWC3	55841	broad.mit.edu	37	X	10085617	10085617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chrX:10085617delG	ENST00000380861.4	+	11	1909	c.1518delG	c.(1516-1518)atgfs	p.M506fs	WWC3_ENST00000454666.1_Frame_Shift_Del_p.M506fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	506					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTCGGCTATGGGGGACGAAG	0.721																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.(1516-1518)atfs		WWC family member 3							6.0	7.0	7.0					X																	10085617		2130	4182	6312	SO:0001589	frameshift_variant	55841							g.chrX:10085617delG	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1518delG	X.37:g.10085617delG	ENSP00000370242:p.Met506fs					WWC3_ENST00000454666.1_Frame_Shift_Del_p.M506fs	p.M506fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			11	1909	+			506					A8KA96|Q659C1|Q9BTQ1	Frame_Shift_Del	DEL	ENST00000380861.4	37	c.1518delG	CCDS14136.1																																																																																				0.721	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691		2	4						2	4	---	---	---	---
